geroderma osteodysplastica

biolink:Disease biolink:DiseaseOrPhenotypicFeature biolink:BiologicalEntity biolink:ThingWithTaxon biolink:NamedThing


protein arginine methyltransferase NDUFAF7, mitochondrial isoform 1 (human)


oculocerebrofacial syndrome, Kaufman type


plasma alpha-L-fucosidase isoform h1 (human)


cystic fibrosis transmembrane conductance regulator isoform 1 (human)


respiratory syncytial virus infectious disease


lanosterol 14-alpha demethylase isoform 1 (human)


ubiquitin carboxyl-terminal hydrolase 28 isoform h1 (human)


cationic amino acid transporter 2 isoform h3 (human)


transmembrane protein 132A isoform h2 (human)


RNA polymerase II-associated protein 3 isoform h1 (human)


polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly


trafficking protein particle complex subunit 6A isoform h2 (human)


spermatogenesis-associated protein 20 isoform h2 (human)


cell adhesion molecule CEACAM7 isoform h2a (human)


rhomboid domain-containing protein 2 isoform h1 (human)


oxysterol-binding protein-related protein 7 isoform h1 (human)


attention deficit hyperactivity disorder, inattentive type


STARD3 N-terminal-like protein isoform h1 (human)


HLA class II histocompatibility antigen gamma chain isoform hp45 (human)


AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome


Ran-binding protein 9 isoform h1 (human)


adult acute respiratory distress syndrome


myalgic encephalomeyelitis/chronic fatigue syndrome


COVID-19–associated multisystem inflammatory syndrome in children


monoclonal gammopathy of uncertain significance


diffuse infiltrative lymphocytosis syndrome


monocytopenia with susceptibility to infections


inborn disorder of cobalamin metabolism and transport


human betaherpesvirus 5 infectious disease


benign female reproductive system neoplasm


nasal cavity and paranasal sinus lethal midline granuloma


glutaminyl-peptide cyclotransferase-like protein isoform h1 (human)


indolethylamine N-methyltransferase isoform h1 (human)


DNA excision repair protein ERCC-1 isoform h3 (human)


hereditary breast ovarian cancer syndrome


heme A synthase COX15 isoform h1 (human)


COX deficiency, benign infantile mitochondrial myopathy


sensory ataxic neuropathy, dysarthria, and ophthalmoparesis


membrane-spanning 4-domains subfamily A member 12 isoform h1 (human)


RANBP2-like and GRIP domain-containing protein 5/6 isoform h1 (human)


autosomal recessive inherited pseudoxanthoma elasticum


autosomal dominant polycystic liver disease


metaphyseal chondrodysplasia, Jansen type


RB1-inducible coiled-coil protein 1 isoform h1 (human)


phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform h1 (human)


congenital hypotrichosis with juvenile macular dystrophy


cleft lip/palate-ectodermal dysplasia syndrome


autosomal recessive dyskeratosis congenita 2


chondroitin sulfate glucuronyltransferase isoform h1 (human)


inclusion body myopathy with Paget disease of bone and frontotemporal dementia


multiple acyl-CoA dehydrogenase deficiency


tetratricopeptide repeat protein 17 isoform 1 (human)


methylthioribose-1-phosphate isomerase isoform 1 (human)


terminal osseous dysplasia-pigmentary defects syndrome


proteasome subunit alpha type-4 isoform 1 (human)


RIPOR family member 3 isoform h1 (human)


zona pellucida-binding protein 1 isoform 1 (human)


intervertebral disk degenerative disorder


microcephalic osteodysplastic dysplasia, Saul-Wilson type


preterm premature rupture of the membranes


tumor necrosis factor receptor superfamily member 17 isoform h1 (human)


intellectual disability, autosomal dominant 3


THAP domain-containing protein 3 isoform h1 (human)


cerebellar dysfunction with variable cognitive and behavioral abnormalities


replication factor C subunit 2 isoform h1 (human)


protein phosphatase 1 regulatory subunit 3F isoform h1 (human)


hypotonia, ataxia, and delayed development syndrome


combined oxidative phosphorylation defect type 21


Rho guanine nucleotide exchange factor 5 isoform h1 (human)


tolloid-like protein 1 isoform h1 (human)


autosomal recessive nonsyndromic hearing loss 63


arrhythmogenic right ventricular cardiomyopathy


catecholaminergic polymorphic ventricular tachycardia


familial isolated arrhythmogenic ventricular dysplasia, biventricular form


central nervous system organ benign neoplasm


cyclic AMP-responsive element-binding protein 3-like protein 3 isoform h1 (human)


histone deacetylase 7 isoform h5 (human)


chromosome 17q23.1-q23.2 deletion syndrome


B-cell receptor CD22 isoform hCD22-beta (human)


zinc finger Y-chromosomal protein isoform h1 (human)


46,XX testicular disorder of sex development


potassium voltage-gated channel subfamily KQT member 1 isoform 1 (human)


Noonan syndrome with multiple lentigines


multiple congenital anomalies due to 14q32.2 maternally expressed gene defect


OTU domain-containing protein 5 isoform h1 (human)


intellectual disability, autosomal dominant 24


lissencephaly 9 with complex brainstem malformation


LIM and cysteine-rich domains protein 1 isoform 1 (human)


26S proteasome regulatory subunit 6B isoform 1 (human)


hypogonadotropic hypogonadism 22 with or without anosmia


intellectual disability-sparse hair-brachydactyly syndrome


kinesin-like protein KIF22 isoform h1 (human)


cell adhesion molecule CEACAM1 isoform h1 (human)


forkhead box protein J2 isoform hFOXJ2.L (human)


tumor necrosis factor receptor superfamily member 1A isoform 1 (human)


TNF receptor 1-associated periodic fever syndrome


hyperimmunoglobulinemia D with periodic fever


autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive


autoinflammatory syndrome, familial, Behcet-like 1


golgin subfamily A member 5 isoform h1 (human)


cadherin EGF LAG seven-pass G-type receptor 3 isoform h1 (human)


serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit beta isoform isoform hBeta-1 (human)


glycogen phosphorylase, muscle form isoform 1 (human)


multiple congenital anomalies-hypotonia-seizures syndrome


follistatin-related protein 3 isoform h1 (human)


ephrin type-A receptor 8 isoform h1 (human)


pachytene checkpoint protein 2 homolog isoform 1 (human)


tubulinyl-Tyr carboxypeptidase 1 isoform h1 (human)


developmental delay and seizures with or without movement abnormalities


3-hydroxyacyl-CoA dehydrogenase type-2 isoform h1 (human)


chromosome 3q29 microduplication syndrome


neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures


fibroblast growth factor 4 isoform h1 (human)


beta-galactoside alpha-2,6-sialyltransferase 1 isoform h1 (human)


developmental and epileptic encephalopathy 98


E3 ubiquitin-protein ligase makorin-2 isoform 1 (human)


tumor necrosis factor receptor superfamily member 16 isoform h1 (human)


indifference to pain, congenital, autosomal dominant


disintegrin and metalloproteinase domain-containing protein 7 isoform h1 (human)


tyrosine-protein phosphatase non-receptor type 18 isoform h1 (human)


combined oxidative phosphorylation deficiency


carbonic anhydrase 12 isoform h1 (human)


congenital bilateral absence of vas deferens


dual specificity mitogen-activated protein kinase kinase 5 isoform B (human)


phosphatidylinositol-3-phosphate phosphatase MTMR7 isoform 1 (human)


cyclin-dependent kinase 13 isoform h1 (human)


congenital heart defects, dysmorphic facial features, and intellectual developmental disorder


developmental delay with short stature, dysmorphic facial features, and sparse hair 1


syndactyly-telecanthus-anogenital and renal malformations syndrome


cerebellar atrophy, visual impairment, and psychomotor retardation;


NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 4 isoform 1 (human)


combined oxidative phosphorylation defect type 7


fatal multiple mitochondrial dysfunctions syndrome


endoplasmic reticulum lectin 1 isoform 1 (human)


chloride intracellular channel protein 5 isoform h2 (human)


malignant hyperthermia, susceptibility to, 1


neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies


prolyl endopeptidase FAP isoform h1 (human)


facioscapulohumeral muscular dystrophy 2


STE20-related kinase adapter protein beta isoform 1 (human)


polyhydramnios, megalencephaly, and symptomatic epilepsy


procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 isoform h1 (human)


succinyl-CoA:3-ketoacid coenzyme A transferase 1, mitochondrial isoform 1 (human)


paired immunoglobulin-like type 2 receptor alpha isoform h1 (human)


RNA polymerase I-specific transcription initiation factor RRN3 isoform h1 (human)


2-acylglycerol O-acyltransferase 2 isoform 1 (human)


eukaryotic translation initiation factor 2-alpha kinase 1 isoform h1 (human)


mammalian ependymin-related protein 1 isoform h1 (human)


centromere/kinetochore protein zw10 homolog isoform 1 (human)


integrin beta-4 isoform hBeta-4C (human)


protein phosphatase 1 regulatory subunit 15A isoform h1 (human)


thyroid receptor-interacting protein 6 isoform h1 (human)


disintegrin and metalloproteinase domain-containing protein 11 isoform Long (human)


systemic primary carnitine deficiency disease


cholesteryl ester transfer protein isoform h1 (human)


transcription factor AP-2 gamma isoform h1 (human)


epidermal growth factor receptor kinase substrate 8-like protein 1 isoform h1 (human)


protein-glutamine gamma-glutamyltransferase 6 isoform h1 (human)


Ral GTPase-activating protein subunit alpha-2 isoform h1 (human)


blepharophimosis - intellectual disability syndrome, SBBYS type


tRNA (adenine(58)-N(1))-methyltransferase non-catalytic subunit TRM6 isoform h1 (human)


lymphocyte activation gene 3 protein isoform h1 (human)


ubiquitin thioesterase OTUB2 isoform 1 (human)


golgin subfamily A member 3 isoform h1 (human)


Golgi apparatus protein 1 isoform h2 (human)


uveal coloboma-cleft lip and palate-intellectual disability


beta-alanine-activating enzyme isoform h1 (human)


dihydrolipoyl dehydrogenase, mitochondrial isoform h1 (human)


ATP-binding cassette sub-family C member 6 isoform h1 (human)


hereditary arterial and articular multiple calcification syndrome


vitamin K-dependent clotting factors, combined deficiency of, type 1


vitamin K deficiency hemorrhagic disease


coiled-coil domain-containing protein 80 isoform h1 (human)


HAUS augmin-like complex subunit 4 isoform 1 (human)


protein-glutamine gamma-glutamyltransferase K isoform h1 (human)


protein unc-13 homolog D isoform h1 (human)


keratin, type I cytoskeletal 23 isoform 1 (human)


autosomal dominant polycystic kidney disease


Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency


kelch-like protein 20 isoform h1 (human)


deoxyhypusine synthase isoform Long (human)


Ras-related protein Rab-26 isoform h1 (human)


26S proteasome non-ATPase regulatory subunit 5 isoform 1 (human)


intellectual disability, autosomal dominant 22


mitogen-activated protein kinase 13 isoform 1 (human)


proline-rich transmembrane protein 1 isoform 1 (human)


circadian rhythm sleep disorder, delayed sleep phase type


NAD-dependent protein deacetylase sirtuin-1 isoform h1 (human)


transforming growth factor beta receptor type 3 isoform 1 (human)


congenital dyserythropoietic anemia type 3


congenital dyserythropoietic anemia type 4


myeloid zinc finger 1 isoform hMZF1A (human)


vertebral anomalies and variable endocrine and T-cell dysfunction


very-long-chain enoyl-CoA reductase isoform 1 (human)


lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome


mucosal addressin cell adhesion molecule 1 isoform 1 (human)


mitogen-activated protein kinase 12 isoform 1 (human)


chromosome 22q11.2 microduplication syndrome


agammaglobulinemia 2, autosomal recessive


splicing factor 3A subunit 1 isoform h1 (human)


Ubl carboxyl-terminal hydrolase 18 isoform h1 (human)


Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency


small nuclear ribonucleoprotein Sm D3 isoform 1 (human)


mitogen-activated protein kinase 1 isoform 1 (human)


hereditary hyperferritinemia with congenital cataracts


phosphoinositide-3-kinase-interacting protein 1 isoform h1 (human)


ankyrin repeat domain-containing protein 54 isoform h1 (human)


meiotic recombination protein DMC1/LIM15 homolog isoform 1 (human)


X-box-binding protein 1 isoform 1 (human)


hyperpigmentation with or without hypopigmentation, familial progressive


Ras-like protein family member 10A isoform 1 (human)


TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 isoform h1 (human)


patatin-like phospholipase domain-containing protein 5 isoform h1 (human)


1-acylglycerol-3-phosphate O-acyltransferase PNPLA3 isoform h1 (human)


metabolic dysfunction-associated steatotic liver disease


metabolic dysfunction and alcohol associated liver disease


macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss


eukaryotic translation initiation factor 3 subunit D isoform 1 (human)


lethal(3)malignant brain tumor-like protein 2 isoform h1 (human)


chondroadherin-like protein isoform h1 (human)


midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis


polyamine deacetylase HDAC10 isoform h1 (human)


receptor-interacting serine/threonine-protein kinase 3 isoform h1 (human)


poly(A) polymerase alpha isoform h1 (human)


congenital generalized lipodystrophy type 2


A0A8C8KBR5_HUMAN AP-4 complex subunit sigma-1 (trembl)


DNA polymerase epsilon subunit 2 isoform 1 (human)


X-linked intellectual disability, van Esch type


son of sevenless homolog 2 isoform h1 (human)


Noonan syndrome-like disorder with loose anagen hair


glycogen phosphorylase, liver form isoform h1 (human)


neurodegenerative syndrome due to cerebral folate transport deficiency


proteasome subunit alpha type-3 isoform 1 (human)


proteasome-associated autoinflammatory syndrome 2


proteasome-associated autoinflammatory syndrome 3


proteasome-associated autoinflammatory syndrome 4


proteasome-associated autoinflammatory syndrome 5


sterile alpha motif domain-containing protein 15 isoform h1 (human)


hereditary sensory and autonomic neuropathy


activator of 90 kDa heat shock protein ATPase homolog 1 isoform 1 (human)


Ras and Rab interactor 3 isoform h1 (human)


polyadenylate-binding protein 2 isoform 1 (human)


central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease


embryonal Fyn-associated substrate isoform hEfs1 (human)


cyclin-dependent kinase 2-interacting protein isoform 1 (human)


phosphoenolpyruvate carboxykinase [GTP], mitochondrial isoform 1 (human)


breast cancer metastasis-suppressor 1-like protein isoform 1 (human)


1,25-dihydroxyvitamin D(3) 24-hydroxylase, mitochondrial isoform 1 (human)


zinc finger protein 64 isoform 1 (human)


Myb-related protein B isoform h1 (human)


Sal-like protein 4 isoform hSALL4A (human)


mitochondrial proton-transporting ATP synthase complex deficiency


solute carrier organic anion transporter family member 4A1 isoform h1 (human)


baculoviral IAP repeat-containing protein 7 isoform 2 (human)


RING finger protein 37 isoform h1 (human)


casein kinase II subunit alpha isoform 1 (human)


ADP-ribose glycohydrolase MACROD2 isoform h2 (human)


short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2


fermitin family homolog 1 isoform 1 (human)


mitochondrial tRNA methylthiotransferase CDK5RAP1 isoform h3 (human)


combined oxidative phosphorylation defect type 26


adenosylhomocysteinase isoform 1 (human)


purine nucleoside phosphorylase deficiency


phosphatidylinositol glycan anchor biosynthesis class U protein isoform 1 (human)


developmental and epileptic encephalopathy, 77


adipocyte plasma membrane-associated protein isoform h1 (human)


Charcot-Marie-Tooth disease axonal type 2P


isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial isoform 1 (human)


solute carrier family 25 member 43 isoform 1 (human)


26S proteasome non-ATPase regulatory subunit 10 isoform h1 (human)


membrane-associated progesterone receptor component 1 isoform 1 (human)


NTF2-related export protein 2 isoform h3 (human)


glycine receptor subunit alpha-2 isoform Alpha-2* (human)


chronic atrial and intestinal dysrhythmia


coagulation factor IX isoform h1 (human)


leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy


leukodystrophy, hypomyelinating, 19, transient infantile


A-type voltage-gated potassium channel KCND1 isoform h1 (human)


UBP11_HUMAN Ubiquitin carboxyl-terminal hydrolase 11 (sprot)


retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations


brain small vessel disease 1 with or without ocular anomalies


potassium-transporting ATPase alpha chain 2 isoform h2 (human)


chronic intestinal vascular insufficiency


celiac artery stenosis from compression by median arcuate ligament of diaphragm


endonuclease III-like protein 1 isoform h1 (human)


72 kDa type IV collagenase isoform 1 (human)


phagosome assembly factor 1 isoform h1 (human)


X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia


lethal congenital contracture syndrome 1


ADP-ribosylation factor-like protein 2-binding protein isoform 1 (human)


nasopharyngeal type undifferentiated carcinoma


partitioning defective 6 homolog alpha isoform 1 (human)


U6 snRNA phosphodiesterase 1 isoform h1 (human)


cilia- and flagella-associated protein 263 isoform 1 (human)


B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)


N-lysine methyltransferase SETD6 isoform h1 (human)


sphingomyelin phosphodiesterase 3 isoform h1 (human)


combined oxidative phosphorylation defect type 30


lysosomal phospholipase A and acyltransferase isoform h1 (human)


fatty acid 2-hydroxylase isoform 1 (human)


protein disulfide-isomerase A2 isoform h1 (human)


DNA-3-methyladenine glycosylase isoform h1 (human)


cortical dysplasia-focal epilepsy syndrome


nucleoside diphosphate kinase, mitochondrial isoform h1 (human)


peroxisomal 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing] isoform 1 (human)


E3 ubiquitin-protein ligase CHIP isoform h1 (human)


rhomboid-related protein 1 isoform h1 (human)


palmoplantar keratoderma-esophageal carcinoma syndrome


autosomal recessive limb-girdle muscular dystrophy type 2A


ubiquitin carboxyl-terminal hydrolase 31 isoform h1 (human)


TOX high mobility group box family member 3 isoform h1 (human)


Myc-associated zinc finger protein isoform h2 (human)


CDP-diacylglycerol--inositol 3-phosphatidyltransferase isoform 1 (human)


sodium-dependent noradrenaline transporter isoform h2 (human)


SLC6A3-related dopamine transporter deficiency syndrome


MAX gene-associated protein isoform h1 (human)


methionyl-tRNA formyltransferase, mitochondrial isoform h1 (human)


combined oxidative phosphorylation defect type 15


leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome


combined oxidative phosphorylation defect type 24


Ras-like protein family member 12 isoform 1 (human)


protein-glutamine gamma-glutamyltransferase 5 isoform Long (human)


GA-binding protein subunit beta-1 isoform 1 (human)


autosomal recessive nonsyndromic hearing loss 12


growth hormone insensitivity with immune dysregulation 1, autosomal recessive


AN1-type zinc finger protein 1 isoform 1 (human)


receptor-interacting serine/threonine-protein kinase 2 isoform h1 (human)


2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing], mitochondrial isoform 1 (human)


tissue-type plasminogen activator isoform h1 (human)


autosomal recessive nonsyndromic hearing loss 77


ganglioside-induced differentiation-associated protein 1 isoform 1 (human)


primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection


ossification of the posterior longitudinal ligament of the spine


myotubularin-related protein 9 isoform h1 (human)


Charcot-Marie-Tooth disease axonal type 2O


glutathione reductase, mitochondrial isoform Mitochondrial (human)


neurofilament medium polypeptide isoform h1 (human)


retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome


RNA polymerase II-associated factor 1 homolog isoform h1 (human)


cytochrome P450 4F3 isoform hCYP4F3A (human)


heterogeneous nuclear ribonucleoprotein L isoform h1 (human)


CLK4-associating serine/arginine rich protein isoform h1 (human)


peroxisomal membrane protein 11C isoform 1 (human)


vesicular glutamate transporter 1 isoform 1 (human)


STING-associated vasculopathy with onset in infancy


autoimmune interstitial lung disease-arthritis syndrome


immunodeficiency 65, susceptibility to viral infections


Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency


46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency


obesity due to congenital leptin deficiency


TBC1 domain family member 17 isoform h1 (human)


uncharacterized protein C19orf44 isoform h1 (human)


excitatory amino acid transporter 4 isoform h1 (human)


alveolar capillary dysplasia with misalignment of pulmonary veins


tubulin-folding cofactor B isoform 1 (human)


mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant


severe combined immunodeficiency due to DNA-PKcs deficiency


amyloid beta precursor like protein 1 isoform h2 (human)


juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome


B-cell antigen receptor complex-associated protein alpha chain isoform h1 (human)


lens fiber membrane intrinsic protein isoform h2 (human)


cell adhesion molecule CEACAM5 isoform h1 (human)


pigmented paravenous retinochoroidal atrophy


idiopathic peripheral autonomic neuropathy


developmental and epileptic encephalopathy, 73


erythropoietin receptor isoform EPOR-F (human)


deoxyribonuclease-2-alpha isoform h1 (human)


X-linked central congenital hypothyroidism with late-onset testicular enlargement


arrestin domain-containing protein 2 isoform 1 (human)


intellectual disability, autosomal dominant 41


cartilage oligomeric matrix protein isoform 1 (human)


BOS complex subunit TMEM147 isoform 1 (human)


developmental and epileptic encephalopathy 6B


developmental and epileptic encephalopathy, 5


upstream stimulatory factor 2 isoform USF2A (human)


ETS domain-containing transcription factor ERF isoform h1 (human)


hepatocyte growth factor isoform 1 (human)


autosomal recessive nonsyndromic hearing loss 14


GTP-binding protein 10 isoform h1 (human)


tissue factor pathway inhibitor 2 isoform h1 (human)


short chain acyl-CoA dehydrogenase deficiency


HMG box-containing protein 1 isoform h1 (human)


pro-FMRFamide-related neuropeptide VF isoform h1 (human)


cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies


beta-1,3-N-acetylglucosaminyltransferase lunatic fringe isoform h1 (human)


persistent hyperplastic primary vitreous


microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability


sn-1-specific diacylglycerol lipase ABHD11 isoform h1 (human)


nucleotide-binding oligomerization domain-containing protein 1 isoform 1 (human)


immunodeficiency 11b with atopic dermatitis


aminoacyl tRNA synthase complex-interacting multifunctional protein 2 isoform 1 (human)


RNA-binding protein 28 isoform h1 (human)


plasminogen activator inhibitor 1 isoform 1 (human)


centrosomal protein of 41 kDa isoform 1 (human)


autosomal recessive nonsyndromic hearing loss 103


zinc finger protein 862 isoform h1 (human)


mesoderm-specific transcript homolog protein isoform h1 (human)


maternal uniparental disomy of chromosome 20


adipocyte enhancer-binding protein 1 isoform h1 (human)


synaptobrevin homolog YKT6 isoform 1 (human)


CAP-Gly domain-containing linker protein 2 isoform h1 (human)


congenital fibrosis of extraocular muscles


zinc finger protein 688 isoform h1 (human)


charged multivesicular body protein 5 isoform 1 (human)


ribitol-5-phosphate transferase FKTN isoform 1 (human)


autosomal recessive polycystic kidney disease


endothelial differentiation-related factor 1 isoform 1 (human)


autosomal recessive nonsyndromic hearing loss 33


autosomal recessive nonsyndromic hearing loss 79


autosomal dominant nonsyndromic hearing loss 50


probable helicase senataxin isoform h1 (human)


familial isolated deficiency of vitamin E


B-cell linker protein isoform h1 (human)


arginyl-tRNA--protein transferase 1 isoform hATE1-1 (human)


DnaJ homolog subfamily C member 12 isoform a (human)


aromatic L-amino acid decarboxylase deficiency


GTP cyclohydrolase I deficiency with hyperphenylalaninemia


peptidyl-prolyl cis-trans isomerase F, mitochondrial isoform h1 (human)


ATP-dependent RNA helicase DHX33 isoform h1 (human)


FMR1-interacting protein NUFIP2 isoform h1 (human)


granulocyte colony-stimulating factor isoform Long (human)


autosomal dominant nonsyndromic hearing loss 41


Golgi apparatus membrane protein TVP23 homolog C isoform h1 (human)


ribosomal protein S6 kinase beta-1 isoform Alpha I (human)


N-acetylglucosaminyl-phosphatidylinositol de-N-acetylase isoform 1 (human)


mitochondrial 2-oxoglutarate/malate carrier protein isoform 1 (human)


dexamethasone-induced Ras-related protein 1 isoform h1 (human)


combined oxidative phosphorylation deficiency 33


Golgi SNAP receptor complex member 1 isoform 1 (human)


PAT complex subunit CCDC47 isoform 1 (human)


craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome


developmental and epileptic encephalopathy, 11


probable ATP-dependent RNA helicase DDX5 isoform 1 (human)


acid-sensing ion channel 2 isoform 2 (human)


histone acetyltransferase KAT2A isoform h1 (human)


ABI gene family member 3 isoform h1 (human)


immunodeficiency 72 with autoinflammation


histone deacetylase 5 isoform h3 (human)


dual specificity protein phosphatase 3 isoform 1 (human)


Klippel-Feil syndrome 2, autosomal recessive


hepatic leukemia factor isoform 1 (human)


Ran guanine nucleotide release factor isoform h1 (human)


hypotonia, infantile, with psychomotor retardation and characteristic facies 3


autoimmune disorder of peripheral nervous system


BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 2 isoform 1 (human)


ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1 isoform h1 (human)


cytosol aminopeptidase isoform 1 (human)


gonadotropin-releasing hormone receptor isoform h1 (human)


nuclear factor NF-kappa-B p105 subunit isoform 2 (human)


thiamine-responsive megaloblastic anemia syndrome


autosomal dominant optic atrophy plus syndrome


H/ACA ribonucleoprotein complex subunit 1 isoform h1 (human)


short-rib thoracic dysplasia 8 with or without polydactyly


cytokine-dependent hematopoietic cell linker isoform h1 (human)


facioscapulohumeral muscular dystrophy 1


transcription factor PU.1 isoform h2 (human)


dipeptidyl peptidase 1 isoform h1 (human)


cytotoxic and regulatory T-cell molecule isoform h1 (human)


coiled-coil domain-containing protein 86 isoform h1 (human)


pyruvate dehydrogenase protein X component, mitochondrial isoform h1 (human)


diacylglycerol O-acyltransferase 2 isoform 1 (human)


Y-box-binding protein 3 isoform h1 (human)


solute carrier family 25 member 3 isoform A (human)


DNA-directed RNA polymerase III subunit RPC2 isoform 1 (human)


P-selectin glycoprotein ligand 1 isoform h2 (human)


acid-sensing ion channel 1 isoform h1 (human)


BTB/POZ domain-containing adapter for CUL3-mediated RhoA degradation protein 3 isoform h1 (human)


granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 1


intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism


cleft palate with or without ankyloglossia, X-linked


zinc finger protein GLI1 isoform h1 (human)


postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome


leukotriene A-4 hydrolase isoform 1 (human)


KICSTOR complex protein ITFG2 isoform h1 (human)


autosomal recessive nonsyndromic hearing loss 27


proline-rich protein 4 isoform h1 (human)


protein mono-ADP-ribosyltransferase PARP11 isoform h1 (human)


RAD51-associated protein 1 isoform 1 (human)


G-protein coupled receptor family C group 5 member D isoform h1 (human)


tumor necrosis factor receptor superfamily member 3 isoform h1 (human)


2-oxoglutarate and iron-dependent oxygenase domain-containing protein 2 isoform h1 (human)


congenital vitamin K-dependent coagulation factors deficiency


diffuse idiopathic skeletal hyperostosis


autosomal dominant nonsyndromic hearing loss 9


nuclear pore complex protein Nup107 isoform h1 (human)


CCR4-NOT transcription complex subunit 2 isoform 1 (human)


KRR1 small subunit processome component homolog isoform h1 (human)


combined oxidative phosphorylation defect type 9


guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-3 isoform 1 (human)


cholinephosphotransferase 1 isoform h1 (human)


ubiquitin carboxyl-terminal hydrolase 5 isoform Long (human)


triosephosphate isomerase isoform h2 (human)


homeobox protein NANOG isoform h1 (human)


N-acylneuraminate cytidylyltransferase isoform h1 (human)


SLC35A1-congenital disorder of glycosylation


C-type lectin domain family 4 member A isoform h1 (human)


intellectual disability, autosomal dominant 5


single-stranded DNA cytosine deaminase isoform 1 (human)


Ras-related protein Rab-35 isoform 1 (human)


FGFR1 oncogene partner 2 isoform 1 (human)


iodotyrosine deiodinase 1 isoform h4 (human)


radial spoke head protein 4 homolog A isoform h1 (human)


androgen-dependent TFPI-regulating protein isoform h2 (human)


choline transporter-like protein 4 isoform h1 (human)


tubby-related protein 1 isoform h1 (human)


mitogen-activated protein kinase 14 isoform CSBP1 (human)


phosphatidylinositol-glycan-specific phospholipase D isoform h1 (human)


acyl-coenzyme A thioesterase 13 isoform 1 (human)


zinc finger and BTB domain-containing protein 24 isoform h1 (human)


immunodeficiency-centromeric instability-facial anomalies syndrome


hepatic veno-occlusive disease-immunodeficiency syndrome


protein unc-93 homolog A isoform h1 (human)


inflammatory poikiloderma with hair abnormalities and acral keratoses


TATA-box-binding protein isoform h1 (human)


5-hydroxymethyl-dUMP N-hydrolase isoform h1 (human)


cell cycle control protein 50A isoform h1 (human)


cerebellar ataxia, intellectual disability, and dysequilibrium


laminin subunit alpha-4 isoform h1 (human)


combined immunodeficiency due to ORAI1 deficiency


NAD-capped RNA hydrolase NUDT12 isoform 1 (human)


Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency


leucyl-cystinyl aminopeptidase isoform 1 (human)


alanine--glyoxylate aminotransferase 2, mitochondrial isoform h1 (human)


mitochondrial DNA depletion syndrome 3 (hepatocerebral type)


CMP-N-acetylneuraminate-poly-alpha-2,8-sialyltransferase isoform 1 (human)


autosomal recessive nonsyndromic hearing loss 23


S-phase kinase-associated protein 1 isoform 1 (human)


nuclear pore complex protein Nup155 isoform h1 (human)


glucocorticoid receptor isoform hAlpha-2 (human)


primary pigmented nodular adrenocortical disease


E3 ubiquitin-protein ligase TRIM23 isoform Alpha (human)


arginine--tRNA ligase, cytoplasmic isoform Complexed (human)


homeobox protein CDX-1 isoform h1 (human)


vesicle transport protein SEC20 isoform h3 (human)


zinc finger MYND domain-containing protein 10 isoform 1 (human)


spondylometaphyseal dysplasia-cone-rod dystrophy syndrome


DNA mismatch repair protein Mlh1 isoform h1 (human)


peroxisomal bifunctional enzyme isoform h1 (human)


6-phosphofructo-2-kinase/fructose-2,6-bisphosphatase 4 isoform 1 (human)


GATOR1 complex protein NPRL2 isoform 1 (human)


MORC family CW-type zinc finger protein 1 isoform h1 (human)


uridine 5'-monophosphate synthase isoform h1 (human)


inherited glutathione synthetase deficiency


kelch-like protein 18 isoform h1 (human)


serine/threonine-protein kinase Nek4 isoform h1 (human)


interferon-induced, double-stranded RNA-activated protein kinase isoform 1 (human)


DAZ-associated protein 1 isoform h1 (human)


HEAT repeat-containing protein 5B isoform h1 (human)


microtubule-associated protein RP/EB family member 3 isoform 1 (human)


DNA mismatch repair protein Msh2 isoform h1 (human)


tissue factor pathway inhibitor isoform Alpha (human)


natural resistance-associated macrophage protein 1 isoform h1 (human)


receptor expression-enhancing protein 6 isoform h2 (human)


NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial isoform h1 (human)


Polycomb group RING finger protein 1 isoform 1 (human)


chromosome 15q13.3 microdeletion syndrome


inward rectifier potassium channel 13 isoform 1 (human)


vitamin K-dependent gamma-carboxylase isoform 1 (human)


autosomal recessive nonsyndromic hearing loss 88


normophosphatemic familial tumoral calcinosis


interleukin-1 receptor-like 1 isoform A (human)


ALG12-congenital disorder of glycosylation


protein phosphatase 1 regulatory subunit 7 isoform 1 (human)


vitamin K-dependent protein C isoform 1 (human)


Golgi reassembly-stacking protein 2 isoform h1 (human)


homeobox protein DLX-2 isoform h1 (human)


neutral amino acid transporter A isoform 1 (human)


Bosch-Boonstra-Schaaf optic atrophy syndrome


hypogonadotropic hypogonadism 2 with or without anosmia


DNA mismatch repair protein Msh6 isoform GTBP-N (human)


H(+)/Cl(-) exchange transporter 6 isoform h1 (human)


diffuse leptomeningeal glioneuronal tumor


rosette-forming glioneuronal tumor of fourth ventricule


transcription elongation factor A N-terminal and central domain-containing protein 2 isoform h1 (human)


methylosome protein WDR77 isoform 1 (human)


migration and invasion-inhibitory protein isoform h1 (human)


nucleotide sugar transporter SLC35D1 isoform h1 (human)


PR domain zinc finger protein 2 isoform h1 (human)


regulator of G-protein signaling 2 isoform 1 (human)


tryptophan--tRNA ligase, mitochondrial isoform 1 (human)


combined oxidative phosphorylation deficiency 52


succinic semialdehyde dehydrogenase deficiency


prolyl 3-hydroxylase 1 isoform h3 (human)


thiamine transporter 1 isoform h1 (human)


vesicle-associated membrane protein 4 isoform 1 (human)


sodium/glucose cotransporter 4 isoform h2 (human)


calmodulin-regulated spectrin-associated protein 2 isoform h1 (human)


bifunctional purine biosynthesis protein ATIC isoform h1 (human)


filamin-A-interacting protein 1 isoform h1 (human)


tRNA-specific adenosine deaminase 2 isoform 1 (human)


polyamine-modulated factor 1-binding protein 1 isoform h2 (human)


dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit 2 isoform 1 (human)


retinoic acid receptor responder protein 1 isoform h2 (human)


lipid droplet-associated hydrolase isoform h1 (human)


autosomal recessive nonsyndromic hearing loss 44


RNA polymerase II elongation factor ELL2 isoform h1 (human)


coiled-coil domain-containing protein 92 isoform h1 (human)


maturity-onset diabetes of the young type 9


AarF domain-containing protein kinase 1 isoform h2 (human)


autosomal recessive ataxia due to ubiquinone deficiency


intraflagellar transport protein 43 homolog isoform h2 (human)


acyl-coenzyme A thioesterase 2, mitochondrial isoform h1 (human)


choline/ethanolamine transporter FLVCR2 isoform h1 (human)


transforming growth factor beta-3 isoform 1 (human)


poly(A) polymerase gamma isoform h1 (human)


peroxisome biogenesis disorder 11A (Zellweger)


quinone oxidoreductase PIG3 isoform h1 (human)


transmembrane protein 214 isoform h1 (human)


neurodegeneration with brain iron accumulation


hypertelorism, microtia, facial clefting syndrome


Arf-GAP with Rho-GAP domain, ANK repeat and PH domain-containing protein 3 isoform 1 (human)


protocadherin beta-14 isoform h1 (human)


protocadherin beta-12 isoform h1 (human)


paired mesoderm homeobox protein 1 isoform 1 (human)


PDZ domain-containing protein 11 isoform 1 (human)


NudC domain-containing protein 1 isoform h1 (human)


coiled-coil domain-containing protein 77 isoform h1 (human)


Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome


ETS-related transcription factor Elf-1 isoform h1 (human)


dolichyl-phosphate beta-glucosyltransferase isoform h1 (human)


dual specificity protein phosphatase 4 isoform h1 (human)


TAR DNA-binding protein 43 isoform 1 (human)


homeobox protein DLX-4 isoform h1 (human)


inactive serine/threonine-protein kinase TEX14 isoform h1 (human)


condensin complex subunit 2 isoform h1 (human)


NKG2-D type II integral membrane protein isoform h1 (human)


pyridine nucleotide-disulfide oxidoreductase domain-containing protein 1 isoform h1 (human)


epidermolysis bullosa simplex 5B, with muscular dystrophy


methylmalonic aciduria and homocystinuria type cblF


N-alpha-acetyltransferase 50 isoform 1 (human)


peroxisomal membrane protein PEX16 isoform h2 (human)


DEP domain-containing protein 7 isoform 1 (human)


autosomal dominant palmoplantar keratoderma and congenital alopecia


growth hormone secretagogue receptor type 1 isoform h1A (human)


tumor necrosis factor ligand superfamily member 10 isoform 1 (human)


ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis


glutathione S-transferase mu 2 isoform h1 (human)


activin receptor type-2A isoform 1 (human)


receptor-type tyrosine-protein kinase FLT3 isoform h1 (human)


UAP56-interacting factor isoform h1 (human)


intellectual disability, autosomal dominant 48


congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay


mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency


combined oxidative phosphorylation deficiency 35


clathrin light chain A isoform Brain (human)


Charcot-Marie-Tooth disease axonal type 2CC


combined immunodeficiency due to moesin deficiency


zinc finger CCCH-type antiviral protein 1 isoform h1 (human)


aldo-keto reductase family 1 member D1 isoform h1 (human)


obesity due to prohormone convertase I deficiency


pancreatic hypoplasia-diabetes-congenital heart disease syndrome


E3 SUMO-protein ligase EGR2 isoform Long (human)


primary cilium assembly protein FAM149B1 isoform h1 (human)


uracil-DNA glycosylase isoform h2 (human)


intraflagellar transport protein 81 homolog isoform CDV-1R (human)


osteopathia striata with cranial sclerosis


ATP-dependent RNA helicase DDX39A isoform 1 (human)


adhesion G protein-coupled receptor E5 isoform h1 (human)


emopamil-binding protein-like isoform 1 (human)


copper-transporting ATPase 2 isoform h1 (human)


zinc finger CCCH domain-containing protein 13 isoform h1 (human)


dual specificity calcium/calmodulin-dependent 3',5'-cyclic nucleotide phosphodiesterase 1B isoform hPDE1B1 (human)


alopecia - intellectual disability syndrome


T-cell immunodeficiency, congenital alopecia, and nail dystrophy


prolow-density lipoprotein receptor-related protein 1 isoform h1 (human)


homeobox protein Hox-C6 isoform 1 (human)


protein transport protein Sec61 subunit alpha isoform 1 isoform 1 (human)


MAGA9_HUMAN Melanoma-associated antigen 9 (sprot)


telomere-associated protein RIF1 isoform h1 (human)


intellectual developmental disorder, X-linked, syndromic, Pilorge type


tetratricopeptide repeat protein 21B isoform h1 (human)


activin receptor type-1C isoform 1 (human)


proton-coupled amino acid transporter 1 isoform h1 (human)


choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome


C4b-binding protein beta chain isoform h1 (human)


chondroitin sulfate synthase 2 isoform h1 (human)


1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase gamma-1 isoform h2 (human)


serine/arginine-rich splicing factor 6 isoform hSRP55-1 (human)


sulfite oxidase deficiency due to molybdenum cofactor deficiency


E3 ubiquitin-protein ligase RNF114 isoform h1 (human)


X-linked lissencephaly with abnormal genitalia


interleukin-9 receptor isoform h1 (human)


combined malonic and methylmalonic acidemia


hormone-sensitive lipase isoform h1 (human)


butyrophilin subfamily 3 member A3 isoform h1 (human)


sodium-dependent phosphate transport protein 1 isoform h1 (human)


combined oxidative phosphorylation defect type 8


combined oxidative phosphorylation defect type 20


triggering receptor expressed on myeloid cells 1 isoform h1 (human)


collagen alpha-1(XXI) chain isoform h1 (human)


translocon-associated protein subunit alpha isoform h1 (human)


ER membrane protein complex subunit 3 isoform 1 (human)


katanin p60 ATPase-containing subunit A-like 2 isoform h2 (human)


severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome


combined immunodeficiency due to ZAP70 deficiency


aspartate aminotransferase, mitochondrial isoform 1 (human)


congenital disorder of deglycosylation 1


armadillo repeat-containing protein 7 isoform 1 (human)


nuclear pore complex protein Nup85 isoform 1 (human)


5'(3')-deoxyribonucleotidase, cytosolic type isoform h1 (human)


protein misato homolog 1 isoform h1 (human)


encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1


lysophospholipid acyltransferase 7 isoform h1 (human)


LIRB3_HUMAN Leukocyte immunoglobulin-like receptor subfamily B member 3 (sprot)


combined immunodeficiency due to OX40 deficiency


THO complex subunit 2 isoform h1 (human)


SH2 domain-containing protein 3A isoform h1 (human)


cilia- and flagella-associated protein 61 isoform h1 (human)


M-phase inducer phosphatase 2 isoform h3 (human)


autosomal recessive nonsyndromic hearing loss 48


lysosome-associated membrane glycoprotein 5 isoform 1 (human)


transducin-like enhancer protein 6 isoform h1 (human)


autoimmune disorder of gastrointestinal tract


BOS complex subunit NCLN isoform 1 (human)


PITH domain-containing protein 1 isoform 1 (human)


protein farnesyltransferase subunit beta isoform 1 (human)


RNA-binding protein Raly isoform h2 (human)


congenital myopathy 4B, autosomal recessive


SUMO-activating enzyme subunit 2 isoform h1 (human)


hematopoietic cell signal transducer isoform h1 (human)


keratin, type I cytoskeletal 13 isoform h1 (human)


ADP-ribosylation factor-like protein 2 isoform 1 (human)


testis-specific serine kinase substrate isoform h1 (human)


leucine-rich repeat transmembrane protein FLRT1 isoform h2 (human)


Max-like protein X isoform Gamma (human)


X-linked intellectual disability-psychosis-macroorchidism syndrome


serine/threonine-protein kinase WNK4 isoform h1 (human)


heat shock protein 75 kDa, mitochondrial isoform h1 (human)


SURP and G-patch domain-containing protein 1 isoform h1 (human)


probable ATP-dependent RNA helicase DDX49 isoform h1 (human)


autosomal recessive distal spinal muscular atrophy 1


beclin 1-associated autophagy-related key regulator isoform 1 (human)


disks large-associated protein 5 isoform h1 (human)


pleckstrin homology domain-containing family G member 3 isoform h1 (human)


cancer/testis antigen 2 isoform hLAGE-1B (human)


apoptosis-associated speck-like protein containing a CARD isoform h1 (human)


14 kDa phosphohistidine phosphatase isoform h1 (human)


TNF receptor-associated factor 2 isoform 1 (human)


zinc finger protein 317 isoform h2 (human)


kinesin-like protein KIF17 isoform h1 (human)


jupiter microtubule associated homolog 2 isoform 1 (human)


FAD-linked sulfhydryl oxidase ALR isoform h1 (human)


autosomal recessive nonsyndromic hearing loss 86


autosomal recessive nonsyndromic hearing loss 74


Ras-related protein Rab-40C isoform 1 (human)


vacuolar fusion protein MON1 homolog B isoform h1 (human)


eukaryotic translation initiation factor 3 subunit K isoform 1 (human)


tubulin alpha-4A chain isoform 1 (human)


neonatal intrahepatic cholestasis due to citrin deficiency


tyrosine-protein phosphatase non-receptor type 12 isoform h1 (human)


serine/threonine/tyrosine-interacting-like protein 1 isoform h1 (human)


peroxisomal ATPase PEX1 isoform h1 (human)


3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome


gamma-tubulin complex component 6 isoform h1 (human)


small G protein signaling modulator 3 isoform h1 (human)


seizure 6-like protein isoform h4 (human)


subepithelial mucinous corneal dystrophy


combined immunodeficiency due to MALT1 deficiency


Cdc42 effector protein 1 isoform h1 (human)


coiled-coil domain-containing protein 117 isoform h1 (human)


leukemia inhibitory factor isoform 1 (human)


congenital stationary night blindness autosomal dominant 3


striatin-interacting protein 2 isoform h1 (human)


NAD-dependent protein deacetylase sirtuin-2 isoform 1 (human)


synaptosomal-associated protein 23 isoform hSNAP-23a (human)


retinal dehydrogenase 2 isoform 1 (human)


small kinetochore-associated protein isoform h1 (human)


ceroid-lipofuscinosis neuronal protein 6 isoform h1 (human)


methyl-CpG-binding domain protein 4 isoform h1 (human)


isolated growth hormone deficiency type II


tryptophan 5-hydroxylase 1 isoform 1 (human)


zinc finger protein 232 isoform Long (human)


mannose-P-dolichol utilization defect 1 protein isoform h1 (human)


multiple congenital anomalies-hypotonia-seizures syndrome 1


queuine tRNA-ribosyltransferase catalytic subunit 1 isoform 1 (human)


poly [ADP-ribose] polymerase 2 isoform h1 (human)


hepatocyte nuclear factor 3-alpha isoform h1 (human)


Ras-related protein Rap-1b isoform 1 (human)


serotonin N-acetyltransferase isoform h2 (human)


Rho guanine nucleotide exchange factor 6 isoform h1 (human)


VCY1_HUMAN Testis-specific basic protein Y 1 (sprot)


RNA-binding motif protein, Y chromosome, family 1 member F/J isoform h1 (human)


deleted in azoospermia-like isoform h2 (human)


MAP kinase-interacting serine/threonine-protein kinase 2 isoform h1 (human)


alpha/beta hydrolase domain-containing protein 17A isoform h2 (human)


zinc finger CCCH domain-containing protein 14 isoform 1 (human)


cyclic nucleotide-gated channel beta-1 isoform hRCNC2B (human)


zinc finger FYVE domain-containing protein 26 isoform h1 (human)


multiple mitochondrial dysfunctions syndrome 6


sodium leak channel NALCN isoform 1 (human)


congenital contractures of the limbs and face, hypotonia, and developmental delay


dedicator of cytokinesis protein 7 isoform h6 (human)


probable ATP-dependent RNA helicase DHX40 isoform 1 (human)


multiple epidermal growth factor-like domains protein 8 isoform h1 (human)


structure-specific endonuclease subunit SLX1 isoform h1 (human)


complex cortical dysplasia with other brain malformations


a disintegrin and metalloproteinase with thrombospondin motifs 2 isoform LpNPI (human)


cytosolic iron-sulfur assembly component 3 isoform 1 (human)


HBA_HUMAN Hemoglobin subunit alpha (sprot)


CCA tRNA nucleotidyltransferase 1, mitochondrial isoform 1 (human)


corneal dystrophy-perceptive deafness syndrome


electrogenic sodium bicarbonate cotransporter 4 isoform h1 (human)


ribonucleoside-diphosphate reductase subunit M2 B isoform 1 (human)


tudor domain-containing protein 1 isoform h3 (human)


mediator of RNA polymerase II transcription subunit 17 isoform 1 (human)


sex comb on midleg-like protein 2 isoform h1 (human)


tumor susceptibility gene 101 protein isoform h1 (human)


uncharacterized protein KIAA0930 isoform h2 (human)


microcephaly 3, primary, autosomal recessive


microcephalic primordial dwarfism due to ZNF335 deficiency


inactive peptidyl-prolyl cis-trans isomerase FKBP6 isoform 1 (human)


actin-related protein 3C isoform h1 (human)


protocadherin gamma-A12 isoform h1 (human)


autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome


NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2 isoform h1 (human)


MHC class I polypeptide-related sequence B isoform h1 (human)


potassium voltage-gated channel subfamily A member 5 isoform 1 (human)


probable inactive allantoicase isoform h1 (human)


bone marrow stromal antigen 2 isoform h1 (human)


long-chain fatty acid transport protein 1 isoform 1 (human)


harmonin-binding protein USHBP1 isoform h1 (human)


NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial isoform 1 (human)


zinc finger protein 764 isoform h1 (human)


transient receptor potential cation channel subfamily M member 4 isoform h1 (human)


neuron-specific vesicular protein calcyon isoform h1 (human)


motor neuron and pancreas homeobox protein 1 isoform h1 (human)


zinc finger protein 337 isoform h1 (human)


centrosomal protein of 85 kDa isoform h1 (human)


laminin subunit alpha-5 isoform h1 (human)


NEDD8-conjugating enzyme Ubc12 isoform 1 (human)


transcription intermediary factor 1-beta isoform h1 (human)


leukoencephalopathy with vanishing white matter


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5


coiled-coil domain-containing protein 62 isoform h1 (human)


huntingtin-interacting protein 1-related protein isoform 1 (human)


suppressor of SWI4 1 homolog isoform h1 (human)


severe X-linked mitochondrial encephalomyopathy


shiftless antiviral inhibitor of ribosomal frameshifting protein isoform h1 (human)


sodium- and chloride-dependent creatine transporter 1 isoform 1 (human)


mixed receptive-expressive language disorder


posterior polymorphous corneal dystrophy 1


posterior polymorphous corneal dystrophy 3


nucleotide sugar transporter SLC35D2 isoform h1 (human)


BPI fold-containing family B member 1 isoform h1 (human)


RNA-binding protein 39 isoform 1 (human)


acetyl-coenzyme A synthetase, cytoplasmic isoform h2 (human)


multinodular and vacuolating neuronal tumor


V-type proton ATPase subunit E 1 isoform 1 (human)


ER membrane protein complex subunit 8 isoform h1 (human)


genetic suppressor element 1 isoform h1 (human)


selective pituitary resistance to thyroid hormone


iron-sulfur clusters transporter ABCB7, mitochondrial isoform h2 (human)


small ribosomal subunit protein mS25 isoform h1 (human)


uncharacterized protein C3orf20 isoform h1 (human)


glycogen storage disease due to phosphoglycerate kinase 1 deficiency


PDZ and LIM domain protein 4 isoform h1 (human)


receptor activity-modifying protein 2 isoform h1 (human)


amine oxidase [copper-containing] 2 isoform h1 (human)


glucose-6-phosphatase catalytic subunit 1 isoform 1 (human)


protocadherin alpha-C1 isoform Long (human)


protocadherin gamma-A3 isoform h1 (human)


NEDD4 family-interacting protein 1 isoform 1 (human)


exocyst complex component 4 isoform h1 (human)


FLYWCH-type zinc finger-containing protein 1 isoform h1 (human)


homeobox protein BarH-like 1 isoform 1 (human)


retinoic acid receptor alpha isoform 1 (human)


protein phosphatase 1 regulatory subunit 1B isoform h1 (human)


flavin-containing monooxygenase 5 isoform 1 (human)


5'-AMP-activated protein kinase subunit beta-2 isoform h1 (human)


RNA-binding protein FUS isoform Long (human)


zinc finger protein 132 isoform h1 (human)


THAP domain-containing protein 1 isoform h1 (human)


DnaJ homolog subfamily B member 1 isoform 1 (human)


break repair meiotic recombinase recruitment factor 1 isoform h2 (human)


hereditary nonpolyposis colorectal cancer type 7


E3 ubiquitin-protein ligase TRIM21 isoform h1 (human)


Bernard-Soulier syndrome, type A2, autosomal dominant


WD repeat-containing protein 7 isoform h1 (human)


sodium- and chloride-dependent GABA transporter 3 isoform h1 (human)


nuclear pore membrane glycoprotein 210 isoform h1 (human)


3-keto-steroid reductase/17-beta-hydroxysteroid dehydrogenase 7 isoform h1 (human)


dynein heavy chain domain-containing protein 1 isoform h1 (human)


protein EFR3 homolog A isoform h1 (human)


small ribosomal subunit protein mS39 isoform h1 (human)


period circadian protein homolog 2 isoform h1 (human)


receptor-type tyrosine-protein phosphatase epsilon isoform h1 (human)


selenocysteine-specific elongation factor isoform h1 (human)


G-rich sequence factor 1 isoform h1 (human)


hepatoencephalopathy due to combined oxidative phosphorylation defect type 1


combined oxidative phosphorylation deficiency 39


combined oxidative phosphorylation defect type 4


E3 ubiquitin-protein ligase TRIM47 isoform h1 (human)


lysine-specific demethylase 6B isoform h1 (human)


C-type lectin domain family 10 member A isoform h1 (human)


bromodomain-containing protein 8 isoform h1 (human)


GTPase Era, mitochondrial isoform HERA-A (human)


60S ribosome subunit biogenesis protein NIP7 homolog isoform 1 (human)


telomeric repeat-binding factor 2 isoform h1 (human)


synaptosomal-associated protein 25 isoform 1 (human)


Ras and Rab interactor 2 isoform h1 (human)


combined oxidative phosphorylation defect type 11


2-(3-amino-3-carboxypropyl)histidine synthase subunit 2 isoform 1 (human)


developmental delay with short stature, dysmorphic facial features, and sparse hair


severe combined immunodeficiency due to CTPS1 deficiency


nuclear autoantigenic sperm protein isoform h1 (human)


polyadenylate-binding protein 1-like isoform h1 (human)


autosomal dominant nonsyndromic hearing loss 5


dimethylglycine dehydrogenase, mitochondrial isoform h1 (human)


S-methylmethionine--homocysteine S-methyltransferase BHMT2 isoform 1 (human)


AP-3 complex subunit beta-1 isoform h1 (human)


SUMO-specific isopeptidase USPL1 isoform h1 (human)


RING finger protein 17 isoform h1 (human)


phosphatidylethanolamine N-methyltransferase isoform 2 (human)


E3 ubiquitin-protein ligase RNF128 isoform 1 (human)


histone-lysine N-methyltransferase KMT5C isoform h1 (human)


Hsp70-binding protein 1 isoform h1 (human)


phospholipase A and acyltransferase 4 isoform h1 (human)


spondyloepiphyseal dysplasia, nishimura type


phosphatidylinositol 4-kinase alpha isoform h1 (human)


E3 ubiquitin-protein ligase makorin-1 isoform h1 (human)


actin-related protein 3B isoform 1 (human)


Charcot-Marie-Tooth disease X-linked recessive 3


myotubularin-related protein 13 isoform h1 (human)


[F-actin]-monooxygenase MICAL2 isoform h1 (human)


Ras-related protein R-Ras2 isoform 1 (human)


store-operated calcium entry-associated regulatory factor isoform h1 (human)


combined immunodeficiency due to STIM1 deficiency


dual specificity protein phosphatase 26 isoform 1 (human)


protein unc-79 homolog isoform h2 (human)


cation channel sperm-associated auxiliary subunit beta isoform 1 (human)


intellectual developmental disorder with short stature and behavioral abnormalities


elongator complex protein 3 isoform 1 (human)


autosomal dominant nonsyndromic hearing loss 28


methyl-CpG-binding domain protein 2 isoform h1 (human)


G2/mitotic-specific cyclin-B1 isoform h1 (human)


von Hippel-Lindau disease tumor suppressor isoform 1 (human)


ER degradation-enhancing alpha-mannosidase-like protein 1 isoform h1 (human)


neural cell adhesion molecule L1-like protein isoform h2 (human)


diphthine--ammonia ligase isoform 1 (human)


thyrotropin subunit beta isoform 1 (human)


Ehlers-Danlos syndrome, hypermobility type


E3 ubiquitin-protein ligase TRIM45 isoform 1 (human)


ADP-ribosylation factor 3 isoform 1 (human)


sodium-coupled neutral amino acid symporter 2 isoform h1 (human)


kinase D-interacting substrate of 220 kDa isoform h1 (human)


UMP-CMP kinase 2, mitochondrial isoform h1 (human)


asparagine--tRNA ligase, cytoplasmic isoform h1 (human)


gastrin-releasing peptide isoform h1 (human)


RAB11-binding protein RELCH isoform h2 (human)


histamine H4 receptor isoform h1 (human)


CDK5 and ABL1 enzyme substrate 1 isoform h1 (human)


epithelial membrane protein 1 isoform h1 (human)


Ras-related and estrogen-regulated growth inhibitor isoform 1 (human)


DNA damage-binding protein 2 isoform h1 (human)


glutamate carboxypeptidase 2 isoform hPSMA-1 (human)


polyhomeotic-like protein 2 isoform h1 (human)


terminal uridylyltransferase 4 isoform h3 (human)


pre-mRNA-splicing factor 38A isoform 1 (human)


cobalamin binding intrinsic factor isoform 1 (human)


centrosomal protein of 135 kDa isoform 1 (human)


platelet-derived growth factor receptor alpha isoform 1 (human)


cilium assembly protein DZIP1 isoform h1 (human)


basic immunoglobulin-like variable motif-containing protein isoform h1 (human)


adenomatous polyposis coli protein isoform h1A (human)


disintegrin and metalloproteinase domain-containing protein 19 isoform B (human)


pyridoxine-dependent epilepsy caused by ALDH7A1 mutant


T-box transcription factor TBX3 isoform II (human)


partial duplication of the long arm of chromosome 4


2'-5'-oligoadenylate synthase-like protein isoform hp56 (human)


gamma-secretase-activating protein isoform h1 (human)


calcium-independent phospholipase A2-gamma isoform 1 (human)


combined oxidative phosphorylation defect type 27


origin recognition complex subunit 3 isoform h2 (human)


T-B+ severe combined immunodeficiency due to gamma chain deficiency


granulomatous disease, chronic, X-linked


severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency


RNA cytidine acetyltransferase isoform h1 (human)


anti-Muellerian hormone type-2 receptor isoform 1 (human)


cyclin-dependent kinase 4 isoform 1 (human)


melanoma and neural system tumor syndrome


alpha-globin transcription factor CP2 isoform 1 (human)


autosomal dominant nonsyndromic hearing loss 2A


serine protease HTRA2, mitochondrial isoform 1 (human)


T-complex protein 1 subunit eta isoform 1 (human)


vertebral hypersegmentation and orofacial anomalies


N-acetylglucosamine-6-sulfatase isoform h1 (human)


E3 ubiquitin-protein ligase Mdm2 isoform h11 (human)


transmembrane protein 231 isoform h1 (human)


cytoplasmic dynein 1 light intermediate chain 2 isoform 1 (human)


pecanex-like protein 2 isoform h1 (human)


regulator of G-protein signaling 8 isoform h2 (human)


N-acetylneuraminate lyase isoform 1 (human)


Sp110 nuclear body protein isoform h6 (human)


acetylcholine receptor subunit delta isoform 1 (human)


ubiquitin carboxyl-terminal hydrolase 37 isoform h1 (human)


eukaryotic translation initiation factor 4E type 2 isoform 1 (human)


DNA repair protein REV1 isoform h1 (human)


malignant adrenal gland pheochromocytoma


tumor necrosis factor receptor superfamily member EDAR isoform 1 (human)


mitochondrial 10-formyltetrahydrofolate dehydrogenase isoform 1 (human)


DNA damage-regulated autophagy modulator protein 1 isoform 1 (human)


thrombospondin type-1 domain-containing protein 1 isoform h1 (human)


mediator of RNA polymerase II transcription subunit 4 isoform 1 (human)


conserved oligomeric Golgi complex subunit 3 isoform h1 (human)


insulin-like growth factor 2 mRNA-binding protein 3 isoform 1 (human)


ER lumen protein-retaining receptor 2 isoform 1 (human)


FAST kinase domain-containing protein 4 isoform h1 (human)


probable ATP-dependent RNA helicase DDX56 isoform h1 (human)


checkpoint protein HUS1 isoform 1 (human)


unconventional myosin-Ig isoform h1 (human)


protein tweety homolog 3 isoform h1 (human)


5-formyltetrahydrofolate cyclo-ligase isoform h1 (human)


iron-responsive element-binding protein 2 isoform h1 (human)


calcium and integrin-binding family member 2 isoform 1 (human)


serine/arginine-rich splicing factor 1 isoform ASF-1 (human)


congenital lactic acidosis, Saguenay-Lac-Saint-Jean type


fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3


testis-expressed protein 2 isoform h2 (human)


Fanconi anemia group J protein isoform h1 (human)


histone acetyltransferase KAT7 isoform 1 (human)


NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 5, mitochondrial isoform 1 (human)


TRAF family member-associated NF-kappa-B activator isoform Long (human)


BTB/POZ domain-containing protein KCTD3 isoform h1 (human)


interleukin-1 receptor antagonist protein isoform 3 (human)


coiled-coil domain-containing protein 115 isoform 1 (human)


heparan-sulfate 6-O-sulfotransferase 1 isoform 1 (human)


UDP-glucose:glycoprotein glucosyltransferase 1 isoform h1 (human)


glycophorin-C isoform Glycophorin-C (human)


hypogonadotropic hypogonadism 15 with or without anosmia


J3KN16_HUMAN Proteasome adapter and scaffold protein ECM29 (trembl)


Ras-specific guanine nucleotide-releasing factor RalGPS1 isoform h1 (human)


mitochondrial complex II deficiency, nuclear type 1


disabled homolog 2-interacting protein isoform 5 (human)


proteasome subunit beta type-7 isoform 1 (human)


phosducin-like protein isoform 1 (human)


E3 ubiquitin-protein ligase RNF38 isoform h1 (human)


Rho family-interacting cell polarization regulator 2 isoform h1 (human)


kinesin light chain 4 isoform h3 (human)


kinesin-like protein KIF13A isoform h1 (human)


tubulointerstitial nephritis antigen isoform h1 (human)


receptor-interacting serine/threonine-protein kinase 1 isoform 1 (human)


complex cortical dysplasia with other brain malformations 7


psoriasis susceptibility 1 candidate gene 1 protein isoform h1 (human)


general transcription factor IIH subunit 4 isoform h1 (human)


POU domain, class 5, transcription factor 1 isoform 1 (human)


E3 ubiquitin-protein ligase RNF144B isoform h1 (human)


HLA class I histocompatibility antigen, alpha chain F isoform h3 (human)


putative uncharacterized protein C6orf52 isoform h1 (human)


52 kDa repressor of the inhibitor of the protein kinase isoform Long (human)


solute carrier organic anion transporter family member 5A1 isoform h1 (human)


ubiquitin carboxyl-terminal hydrolase 2 isoform h1 (human)


5-hydroxytryptamine receptor 3B isoform h1 (human)


ferredoxin-fold anticodon-binding domain-containing protein 1 isoform h1 (human)


POU domain, class 2, transcription factor 3 isoform h2 (human)


corticosterone methyloxidase type 1 deficiency


kinesin-like protein KIF23 isoform h1 (human)


HAUS augmin-like complex subunit 2 isoform h1 (human)


gamma-tubulin complex component 4 isoform 1 (human)


regulator of microtubule dynamics protein 3 isoform h1 (human)


1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase beta-2 isoform h1 (human)


disintegrin and metalloproteinase domain-containing protein 10 isoform h1 (human)


Charcot-Marie-Tooth disease axonal type 2N


GTP cyclohydrolase 1 feedback regulatory protein isoform 1 (human)


autosomal dominant nonsyndromic hearing loss 68


breast cancer anti-estrogen resistance protein 3 isoform h1 (human)


tubulin polyglutamylase TTLL7 isoform h1 (human)


kynurenine--oxoglutarate transaminase 3 isoform 1 (human)


Rho GTPase-activating protein 29 isoform h1 (human)


intraflagellar transport protein 172 homolog isoform 1 (human)


amino acid transporter heavy chain SLC3A1 isoform A (human)


calcium homeostasis modulator protein 2 isoform 1 (human)


exocyst complex component 6 isoform h1 (human)


lariat debranching enzyme isoform h1 (human)


BRCA1-associated RING domain protein 1 isoform h1 (human)


spinal muscular atrophy-progressive myoclonic epilepsy syndrome


peptidyl-prolyl cis-trans isomerase G isoform h1 (human)


E3 ubiquitin-protein ligase HECW2 isoform h1 (human)


congenital stationary night blindness 2A


acetylcholine receptor subunit alpha isoform 2 (human)


posterior polymorphous corneal dystrophy


solute carrier family 49 member 4 isoform h1 (human)


guanylyl cyclase-activating protein 3 isoform h1 (human)


oxysterol-binding protein-related protein 8 isoform h1 (human)


integrator complex subunit 13 isoform h1 (human)


ATP-binding cassette sub-family C member 9 isoform hSUR2B (human)


histidine ammonia-lyase isoform 1 (human)


cyclin-dependent kinase 17 isoform 1 (human)


interleukin-1 receptor-associated kinase 3 isoform 1 (human)


CDK-activating kinase assembly factor MAT1 isoform 1 (human)


G1/S-specific cyclin-D2 isoform h1 (human)


encephalopathy due to hydroxykynureninuria


arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome


anomalous left coronary artery from the pulmonary artery


26S proteasome regulatory subunit 4 isoform h1 (human)


peptidylprolyl isomerase domain and WD repeat-containing protein 1 isoform 1 (human)


developmental and epileptic encephalopathy, 54


pregnancy zone protein isoform h1 (human)


C-type lectin domain family 2 member D isoform h2 (human)


dynein axonemal heavy chain 3 isoform h1 (human)


NUAK family SNF1-like kinase 1 isoform 1 (human)


lysophospholipid acyltransferase 5 isoform 1 (human)


ubiquitin-conjugating enzyme E2 K isoform 1 (human)


NEDD4-binding protein 2 isoform h1 (human)


krueppel-like factor 3 isoform h1 (human)


TBC1 domain family member 1 isoform h1 (human)


lysine-specific demethylase 9 isoform h1 (human)


serine/threonine-protein phosphatase 2A 56 kDa regulatory subunit alpha isoform isoform 1 (human)


TNF receptor-associated factor 5 isoform 1 (human)


serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit gamma isoform 1 (human)


proteasome subunit alpha type-6 isoform 1 (human)


ubiquitin carboxyl-terminal hydrolase 22 isoform 1 (human)


B9 domain-containing protein 1 isoform 1 (human)


methylsterol monooxygenase 1 isoform 1 (human)


H(+)/Cl(-) exchange transporter 3 isoform h2 (human)


little elongation complex subunit 2 isoform h1 (human)


nuclear receptor ROR-alpha isoform h2 (human)


G patch domain-containing protein 2-like isoform h1 (human)


protein O-mannosyl-transferase 2 isoform 1 (human)


protein O-mannosyl-transferase TMEM260 isoform h1 (human)


AP-5 complex subunit mu-1 isoform 1 (human)


Leber congenital amaurosis with early-onset deafness


E3 ubiquitin-protein ligase RNF138 isoform 1 (human)


ubiquitin carboxyl-terminal hydrolase 14 isoform h1 (human)


ADP-ribosylation factor-like protein 1 isoform h1 (human)


autosomal dominant nonsyndromic hearing loss 25


protoheme IX farnesyltransferase, mitochondrial isoform h1 (human)


tumor necrosis factor receptor superfamily member 13B isoform h1 (human)


RIMS-binding protein 2 isoform h1 (human)


bifunctional apoptosis regulator isoform 1 (human)


cyclin-dependent kinase 2-associated protein 1 isoform h1 (human)


scavenger receptor class B member 1 isoform 1 (human)


sodium-dependent serotonin transporter isoform 1 (human)


26S proteasome non-ATPase regulatory subunit 11 isoform 1 (human)


serine/threonine-protein kinase TAO1 isoform 1 (human)


BTB/POZ domain-containing protein 1 isoform h1 (human)


aldehyde dehydrogenase, mitochondrial isoform h1 (human)


endoplasmic reticulum resident protein 29 isoform h1 (human)


N-alpha-acetyltransferase 25, NatB auxiliary subunit isoform 1 (human)


neuronal acetylcholine receptor subunit beta-4 isoform h1 (human)


alanine--tRNA ligase, cytoplasmic isoform 1 (human)


protein VAC14 homolog isoform h1 (human)


hereditary diffuse gastric adenocarcinoma


transmembrane 9 superfamily member 1 isoform h1 (human)


bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 1 isoform 1 (human)


casein kinase I isoform alpha isoform h2 (human)


platelet-derived growth factor receptor beta isoform 1 (human)


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2


anaphase-promoting complex subunit 5 isoform h1 (human)


alacrima, achalasia, and intellectual disability syndrome


cholesterol 24-hydroxylase isoform 1 (human)


guanine nucleotide-binding protein subunit beta-5 isoform 1 (human)


gnb5-related intellectual disability-cardiac arrhythmia syndrome


unconventional myosin-Vc isoform h1 (human)


AP-4 complex subunit epsilon-1 isoform h1 (human)


eukaryotic translation initiation factor 3 subunit J isoform h1 (human)


gamma-secretase subunit APH-1B isoform 1 (human)


alpha- and gamma-adaptin-binding protein p34 isoform 1 (human)


protein mono-ADP-ribosyltransferase PARP16 isoform h3 (human)


Ras-related protein Rab-11A isoform 1 (human)


sodium/potassium/calcium exchanger 1 isoform h1 (human)


serine beta-lactamase-like protein LACTB, mitochondrial isoform h1 (human)


vascular endothelial growth factor receptor 3 isoform 1 (human)


gamma-tubulin complex component 3 isoform h1 (human)


RNA-binding protein 25 isoform h1 (human)


C-Jun-amino-terminal kinase-interacting protein 4 isoform 1 (human)


alpha-sarcoglycan isoform SGCA-1 (human)


methionine--tRNA ligase, cytoplasmic isoform h1 (human)


cyclic AMP-dependent transcription factor ATF-1 isoform h1 (human)


microtubule-associated tumor suppressor 1 isoform h1 (human)


dextro-looped transposition of the great arteries


autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity


twisted gastrulation protein homolog 1 isoform h1 (human)


ankyrin repeat domain-containing protein 12 isoform h1 (human)


centrosomal protein of 76 kDa isoform 1 (human)


retinoblastoma-like protein 2 isoform 1 (human)


lysophosphatidylcholine acyltransferase 2 isoform 1 (human)


WD repeat domain phosphoinositide-interacting protein 1 isoform 1 (human)


GATOR2 complex protein WDR59 isoform 1 (human)


mitochondrial fission regulator 1 isoform h1 (human)


mothers against decapentaplegic homolog 7 isoform 1 (human)


mothers against decapentaplegic homolog 2 isoform Long (human)


DnaJ homolog subfamily B member 6 isoform A (human)


vasoactive intestinal polypeptide receptor 2 isoform h1 (human)


voltage-gated inwardly rectifying potassium channel KCNH2 isoform A (human)


SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 isoform 1 (human)


histone-lysine N-methyltransferase 2C isoform h1 (human)


translocating chain-associated membrane protein 1 isoform 1 (human)


neuronal ceroid lipofuscinosis 8 northern epilepsy variant


myeloid cell surface antigen CD33 isoform hCD33M (human)


PIH1 domain-containing protein 1 isoform 1 (human)


retinoid-inducible serine carboxypeptidase isoform 1 (human)


vacuole membrane protein 1 isoform 1 (human)


E3 ubiquitin-protein ligase TRIM37 isoform h1 (human)


membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase isoform h1 (human)


lipase maturation factor 1 isoform h1 (human)


Rab11 family-interacting protein 3 isoform h1 (human)


chromosome transmission fidelity protein 18 homolog isoform h1 (human)


rhizomelic chondrodysplasia punctata type 1


trichomegaly-retina pigmentary degeneration-dwarfism syndrome


interleukin-12 receptor subunit beta-2 isoform h1 (human)


Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency


E3 ubiquitin-protein ligase MGRN1 isoform h2 (human)


chitobiosyldiphosphodolichol beta-mannosyltransferase isoform h1 (human)


multiple congenital anomalies-hypotonia-seizures syndrome 2


DnaJ homolog subfamily A member 3, mitochondrial isoform 1 (human)


WD repeat and SOCS box-containing protein 1 isoform 1 (human)


autosomal recessive nonsyndromic hearing loss 62


TNF receptor-associated factor 4 isoform 1 (human)


regulator of G-protein signaling 9 isoform h1 (human)


intellectual disability, autosomal dominant 42


Charcot-Marie-Tooth disease dominant intermediate F


band 3 anion transport protein isoform 1 (human)


cysteine-rich secretory protein LCCL domain-containing 2 isoform h1 (human)


malonyl-CoA decarboxylase, mitochondrial isoform Mitochondrial (human)


isolated growth hormone deficiency type IB


dynein axonemal heavy chain 9 isoform h1 (human)


combined immunodeficiency due to GINS1 deficiency


solute carrier family 12 member 2 isoform 1 (human)


membrane-associated phosphatidylinositol transfer protein 3 isoform 1 (human)


guanine nucleotide-binding protein G(o) subunit alpha isoform Alpha-2 (human)


neurodevelopmental disorder with involuntary movements


ubiquinone biosynthesis protein COQ9, mitochondrial isoform h1 (human)


neuroendocrine convertase 2 isoform h1 (human)


double zinc ribbon and ankyrin repeat-containing protein 1 isoform h1 (human)


autosomal dominant childhood-onset proximal spinal muscular atrophy


serine palmitoyltransferase 1 isoform 1 (human)


Na(+)/H(+) exchange regulatory cofactor NHE-RF1 isoform 1 (human)


TYRO protein tyrosine kinase-binding protein isoform h1 (human)


RNA-binding protein 42 isoform h1 (human)


vesicle-associated membrane protein 7 isoform h2 (human)


G1/S-specific cyclin-E1 isoform E1L (human)


Ras-related protein Rab-2A isoform 1 (human)


cerebral cavernous malformations 2 protein-like isoform h2 (human)


apoptotic chromatin condensation inducer in the nucleus isoform h1 (human)


LIM domain-containing protein ajuba isoform h1 (human)


telomerase protein component 1 isoform h1 (human)


PH domain leucine-rich repeat-containing protein phosphatase 1 isoform h1 (human)


EF-hand calcium-binding domain-containing protein 6 isoform h1 (human)


complete androgen insensitivity syndrome


cadherin EGF LAG seven-pass G-type receptor 1 isoform h1 (human)


phosphatidylinositol 3-kinase regulatory subunit gamma isoform 1 (human)


ribosomal protein S6 kinase alpha-6 isoform h1 (human)


CDP-diacylglycerol--glycerol-3-phosphate 3-phosphatidyltransferase, mitochondrial isoform h1 (human)


glutamine-rich protein 2 isoform h1 (human)


MAU2 chromatid cohesion factor homolog isoform h1 (human)


probable E3 ubiquitin-protein ligase MID2 isoform h1 (human)


nuclear protein AMMECR1 isoform h1 (human)


Ras-related GTP-binding protein B isoform 1 (human)


MAP/microtubule affinity-regulating kinase 4 isoform 1 (human)


transcription factor E2F3 isoform 1 (human)


potassium voltage-gated channel subfamily KQT member 4 isoform 1 (human)


Ras GTPase-activating protein 4 isoform h1 (human)


actin-related protein 2/3 complex subunit 1A isoform 1 (human)


dipeptidyl peptidase 9 isoform h2 (human)


zinc finger RNA-binding protein 2 isoform h1 (human)


transcription factor E2-alpha isoform hE12 (human)


46,XY disorder of sex development due to testicular 17,20-desmolase deficiency


GRB2-associated-binding protein 1 isoform h2 (human)


mitogen-activated protein kinase 3 isoform 1 (human)


phytanoyl-CoA dioxygenase, peroxisomal isoform 1 (human)


VPS10 domain-containing receptor SorCS1 isoform h1 (human)


mitogen-activated protein kinase kinase kinase 8 isoform 1 (human)


enhancer of polycomb homolog 1 isoform h1 (human)


poly(A) RNA polymerase, mitochondrial isoform h1 (human)


scavenger receptor class F member 1 isoform h1 (human)


telomerase-binding protein EST1A isoform h1 (human)


megalencephalic leukoencephalopathy with subcortical cysts


leukodystrophy, hypomyelinating, 26, with chondrodysplasia


2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform h4 (human)


RNA N(6)-adenosine-methyltransferase METTL16 isoform h1 (human)


long-chain fatty acid transport protein 5 isoform h1 (human)


phospholipid-transporting ATPase ABCA7 isoform h1 (human)


alpha-1B-glycoprotein isoform h1 (human)


intellectual disability, autosomal dominant 51


Ras-related protein Rab-36 isoform h1 (human)


protein kinase C theta type isoform 1 (human)


WD repeat-containing protein 37 isoform h1 (human)


phospholipid phosphatase-related protein type 5 isoform 1 (human)


autosomal dominant nonsyndromic hearing loss 1


integral membrane protein DGCR2/IDD isoform h1 (human)


chromosome 22q11.2 deletion syndrome, distal


ubiquitin recognition factor in ER-associated degradation protein 1 isoform Short (human)


mediator of RNA polymerase II transcription subunit 15 isoform h1 (human)


splicing regulator ARVCF isoform Long (human)


microprocessor complex subunit DGCR8 isoform 1 (human)


protein phosphatase 1F isoform h1 (human)


ADP-ribosylation factor GTPase-activating protein 3 isoform h1 (human)


protein kinase C and casein kinase substrate in neurons protein 2 isoform 1 (human)


EH domain-containing protein 2 isoform 1 (human)


T-lymphocyte surface antigen Ly-9 isoform h1 (human)


paired box protein Pax-8 isoform 1 (human)


potassium channel subfamily K member 6 isoform h1 (human)


bromodomain-containing protein 4 isoform A (human)


leukoencephalopathy, diffuse hereditary, with spheroids 1


mediator of RNA polymerase II transcription subunit 26 isoform h1 (human)


COMM domain-containing protein 9 isoform 1 (human)


protein kinase C gamma type isoform 1 (human)


protein phosphatase 1 regulatory subunit 12C isoform h1 (human)


calvarial doughnut lesions-bone fragility syndrome


plasma membrane calcium-transporting ATPase 3 isoform XB (human)


prolyl 4-hydroxylase subunit alpha-1 isoform 2 (human)


vacuolar protein sorting-associated protein 26A isoform 1 (human)


ATP-dependent RNA helicase DDX25 isoform h1 (human)


FAD-dependent oxidoreductase domain-containing protein 1 isoform h1 (human)


combined oxidative phosphorylation deficiency 44


sialate O-acetylesterase isoform h1 (human)


tall stature-scoliosis-macrodactyly of the great toes syndrome


autosomal recessive agammaglobulinemia 1


oxysterol-binding protein-related protein 5 isoform h1 (human)


CB1 cannabinoid receptor-interacting protein 1 isoform 1 (human)


autosomal dominant nonsyndromic hearing loss 10


TATA box-binding protein-associated factor RNA polymerase I subunit B isoform h1 (human)


E3 ubiquitin-protein ligase PDZRN3 isoform h1 (human)


chordin-like protein 2 isoform h2 (human)


DNA polymerase delta subunit 3 isoform h1 (human)


U5 small nuclear ribonucleoprotein 40 kDa protein isoform h1 (human)


enoyl-[acyl-carrier-protein] reductase, mitochondrial isoform 1 (human)


CLIP-associating protein 1 isoform h1 (human)


band 4.1-like protein 5 isoform h1 (human)


hypophosphatemic rickets, X-linked recessive


S1 RNA-binding domain-containing protein 1 isoform h1 (human)


formin-binding protein 4 isoform h1 (human)


NADH dehydrogenase [ubiquinone] iron-sulfur protein 3, mitochondrial isoform h1 (human)


1-aminocyclopropane-1-carboxylate synthase-like protein 1 isoform h1 (human)


charged multivesicular body protein 2b isoform 1 (human)


eIF-2-alpha kinase GCN2 isoform h1 (human)


leukocyte tyrosine kinase receptor isoform hLambda P2 (human)


zinc finger protein 106 isoform h1 (human)


charged multivesicular body protein 3 isoform h1 (human)


combined oxidative phosphorylation deficiency 51


macrophage-capping protein isoform h1 (human)


mitogen-activated protein kinase kinase kinase kinase 3 isoform 1 (human)


vesicle transport protein USE1 isoform h1 (human)


signal transducing adapter molecule 2 isoform h1 (human)


growth factor receptor-bound protein 14 isoform h1 (human)


vascular endothelial growth factor receptor 2 isoform 1 (human)


E3 ubiquitin-protein ligase LNX isoform h1 (human)


tumor necrosis factor receptor superfamily member 8 isoform h1 (human)


kinesin-like protein KIF1B isoform 2 (human)


general transcription factor 3C polypeptide 3 isoform h1 (human)


coenzyme Q-binding protein COQ10 homolog B, mitochondrial isoform h1 (human)


ubiquitin carboxyl-terminal hydrolase 13 isoform h1 (human)


transcription initiation factor TFIID subunit 12 isoform hTAFII20 (human)


sodium/hydrogen exchanger 1 isoform h1 (human)


EH domain-binding protein 1 isoform h1 (human)


chemokine-like factor isoform h2 (human)


intraflagellar transport protein 46 homolog isoform h2 (human)


coatomer subunit delta isoform 1 (human)


cell surface glycoprotein MUC18 isoform h1 (human)


FERM, ARHGEF and pleckstrin domain-containing protein 2 isoform h1 (human)


diacylglycerol kinase delta isoform h2 (human)


EF-hand domain-containing protein D1 isoform h1 (human)


DnaJ homolog subfamily C member 10 isoform 1 (human)


deoxyguanosine kinase, mitochondrial isoform 1 (human)


lysyl oxidase homolog 3 isoform h1 (human)


histone acetyltransferase type B catalytic subunit isoform A (human)


cyclic AMP-dependent transcription factor ATF-2 isoform 1 (human)


laminin subunit gamma-2 isoform Long (human)


tRNA N6-adenosine threonylcarbamoyltransferase, mitochondrial isoform 1 (human)


DNA annealing helicase and endonuclease ZRANB3 isoform h1 (human)


aspartate--tRNA ligase, cytoplasmic isoform 1 (human)


AT-rich interactive domain-containing protein 4B isoform h1 (human)


popeye domain-containing protein 2 isoform h1 (human)


T-lymphocyte activation antigen CD80 isoform h1 (human)


thioredoxin domain-containing protein 9 isoform 1 (human)


interleukin-1 receptor-like 2 isoform h1 (human)


interleukin-18 receptor accessory protein isoform h1 (human)


elongation factor G, mitochondrial isoform h2 (human)


DNA topoisomerase 2-beta isoform hBeta-2 (human)


14-3-3 protein epsilon isoform 1 (human)


probable E3 ubiquitin-protein ligase HERC6 isoform h1 (human)


bifunctional heparan sulfate N-deacetylase/N-sulfotransferase 4 isoform 1 (human)


disintegrin and metalloproteinase domain-containing protein 23 isoform Alpha (human)


1-phosphatidylinositol 3-phosphate 5-kinase isoform h1 (human)


short-rib thoracic dysplasia 11 with or without polydactyly


cGMP-dependent protein kinase 2 isoform 1 (human)


Ras-GEF domain-containing family member 1B isoform 1 (human)


recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome


glycine receptor subunit beta isoform h1 (human)


Rap guanine nucleotide exchange factor 2 isoform h1 (human)


folliculin-interacting protein 2 isoform h1 (human)


max dimerization protein 1 isoform h1 (human)


fibroblast growth factor 2 isoform h1 (human)


BBSome complex member BBS7 isoform 1 (human)


bridge-like lipid transfer protein family member 1 isoform h1 (human)


retinoblastoma-binding protein 5 isoform 1 (human)


PHD and RING finger domain-containing protein 1 isoform h1 (human)


Ras-related protein Rab-17 isoform h1 (human)


familial cold autoinflammatory syndrome 2


thyroid hormone receptor alpha isoform Alpha-2 (human)


26S proteasome non-ATPase regulatory subunit 3 isoform h1 (human)


V-type proton ATPase 116 kDa subunit a 1 isoform h3 (human)


signal transducer and activator of transcription 3 isoform 1 (human)


F-box/LRR-repeat protein 20 isoform 1 (human)


RNA cytosine C(5)-methyltransferase NSUN2 isoform h1 (human)


histone-lysine N-methyltransferase MECOM isoform 4 (human)


DNA (cytosine-5)-methyltransferase 3A isoform h1 (human)


DnaJ homolog subfamily C member 27 isoform 1 (human)


Fos-related antigen 2 isoform h1 (human)


endosomal/lysosomal proton channel TMEM175 isoform h1 (human)


phospholipid phosphatase 1 isoform h2 (human)


tenosynovial giant cell tumor, diffuse type


solute carrier family 2, facilitated glucose transporter member 9 isoform h1 (human)


PR domain zinc finger protein 5 isoform h1 (human)


peroxisome proliferator-activated receptor gamma coactivator 1-alpha isoform h1 (human)


lysosome membrane protein 2 isoform 1 (human)


general vesicular transport factor p115 isoform h2 (human)


high affinity cAMP-specific and IBMX-insensitive 3',5'-cyclic phosphodiesterase 8B isoform h1 (human)


solute carrier family 12 member 7 isoform 1 (human)


succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform 1 (human)


programmed cell death protein 6 isoform 1 (human)


centrosomal protein of 72 kDa isoform h1 (human)


sodium/hydrogen exchanger 3 isoform h1 (human)


5'-3' exoribonuclease 1 isoform h1 (human)


alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase A isoform 1 (human)


tyrosine-protein kinase ZAP-70 isoform 1 (human)


serine/threonine-protein phosphatase 2A regulatory subunit B'' subunit alpha isoform PR130 (human)


centrosomal protein of 70 kDa isoform h1 (human)


acyl-CoA dehydrogenase family member 11 isoform h1 (human)


transcription factor SOX-30 isoform h1 (human)


ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 2 isoform h1 (human)


diacylglycerol kinase gamma isoform h1 (human)


mitogen-activated protein kinase kinase kinase 13 isoform h1 (human)


DEP domain-containing protein 1B isoform 1 (human)


A0A7I2PE23_HUMAN DNA excision repair protein ERCC-8 (trembl)


uncharacterized protein CFAP92 isoform h1 (human)


atrial natriuretic peptide receptor 3 isoform h1 (human)


versican core protein isoform hV0 (human)


cytoplasmic polyadenylation element-binding protein 4 isoform 1 (human)


F-box/WD repeat-containing protein 11 isoform C (human)


Crouzon syndrome-acanthosis nigricans syndrome


excitatory amino acid transporter 1 isoform h1 (human)


SMC5-SMC6 complex localization factor protein 1 isoform h1 (human)


centromere-associated protein E isoform h1 (human)


lymphoid enhancer-binding factor 1 isoform h1 (human)


pre-pro-epidermal growth factor isoform h1 (human)


ankyrin repeat domain-containing protein 7 isoform h1 (human)


dynein regulatory complex protein 9 isoform h1 (human)


PEST proteolytic signal-containing nuclear protein isoform 1 (human)


transient receptor potential cation channel subfamily V member 5 isoform h1 (human)


ATP-binding cassette sub-family B member 6 isoform h1 (human)


peroxisomal trans-2-enoyl-CoA reductase isoform 1 (human)


cyclin-dependent kinase-like 3 isoform h1 (human)


AF4/FMR2 family member 4 isoform h1 (human)


mediator of RNA polymerase II transcription subunit 20 isoform 1 (human)


cAMP-responsive element modulator isoform h14 (human)


amyloid-beta A4 precursor protein-binding family A member 1 isoform h1 (human)


phosphatidylinositol 4-phosphate 5-kinase type-1 beta isoform h1 (human)


UDP-glucuronosyltransferase 2B10 isoform h1 (human)


suppressor of tumorigenicity 7 protein isoform h1 (human)


transcription factor EC isoform h1 (human)


peroxiredoxin-5, mitochondrial isoform Mitochondrial (human)


DNA polymerase alpha subunit B isoform h1 (human)


galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 1 (human)


ubiquitin carboxyl-terminal hydrolase 4 isoform h1 (human)


cAMP-dependent protein kinase type II-alpha regulatory subunit isoform h1 (human)


sterol regulatory element-binding protein cleavage-activating protein isoform h1 (human)


chloride channel protein 2 isoform h1 (human)


2-aminomuconic semialdehyde dehydrogenase isoform 1 (human)


carnitine O-palmitoyltransferase 1, liver isoform isoform 1 (human)


V-type proton ATPase 116 kDa subunit a 3 isoform Long (human)


disintegrin and metalloproteinase domain-containing protein 2 isoform h1 (human)


tRNA-dihydrouridine(20a/20b) synthase [NAD(P)+]-like isoform h1 (human)


phosphatidylcholine translocator ABCB4 isoform h1 (human)


disintegrin and metalloproteinase domain-containing protein 22 isoform h1 (human)


protein DBF4 homolog A isoform h1 (human)


eukaryotic translation initiation factor 4H isoform Long (human)


disintegrin and metalloproteinase domain-containing protein 28 isoform h1 (human)


acetyl-CoA acetyltransferase, mitochondrial isoform h1 (human)


ELMO domain-containing protein 1 isoform h1 (human)


mismatch repair endonuclease PMS2 isoform h1 (human)


Golgi to ER traffic protein 4 homolog isoform 1 (human)


heterogeneous nuclear ribonucleoprotein H3 isoform h1 (human)


cell division cycle and apoptosis regulator protein 1 isoform h1 (human)


BMP/retinoic acid-inducible neural-specific protein 1 isoform 1 (human)


target of rapamycin complex 2 subunit MAPKAP1 isoform 1 (human)


general transcription factor IIH subunit 1 isoform h1 (human)


secretion-regulating guanine nucleotide exchange factor isoform h1 (human)


BLOC-2 complex member HPS5 isoform h1 (human)


foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome


voltage-gated potassium channel KCNC1 isoform h2 (human)


phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha isoform h1 (human)


FHF complex subunit HOOK-interacting protein 1B isoform h2 (human)


insulin-degrading enzyme isoform 1 (human)


TATA-binding protein-associated factor 172 isoform h1 (human)


cytoplasmic polyadenylation element-binding protein 3 isoform h1 (human)


death domain-associated protein 6 isoform 1 (human)


glycosyltransferase 8 domain-containing protein 1 isoform 1 (human)


RNA-binding protein 6 isoform h1 (human)


inter-alpha-trypsin inhibitor heavy chain H4 isoform h1 (human)


slit homolog 1 protein isoform h1 (human)


death-inducer obliterator 1 isoform h4 (human)


pre-mRNA-processing factor 6 isoform 1 (human)


sodium/glucose cotransporter 1 isoform h1 (human)


polyglutamylase complex subunit TTLL1 isoform A (human)


mitochondrial fission process protein 1 isoform 1 (human)


POZ-, AT hook-, and zinc finger-containing protein 1 isoform h1 (human)


thyrotroph embryonic factor isoform h1 (human)


voltage-dependent L-type calcium channel subunit alpha-1C isoform h11 (human)


basic helix-loop-helix ARNT-like protein 2 isoform h1 (human)


1-phosphatidylinositol 4,5-bisphosphate phosphodiesterase zeta-1 isoform h1 (human)


killer cell lectin-like receptor subfamily G member 1 isoform h1 (human)


congenital total pulmonary venous return anomaly


E3 ubiquitin-protein ligase MARCHF9 isoform h1 (human)


glioma pathogenesis-related protein 1 isoform h1 (human)


leucine-rich repeat-containing G-protein coupled receptor 5 isoform 1 (human)


cleavage and polyadenylation specificity factor subunit 6 isoform h2 (human)


sodium-dependent neutral amino acid transporter B(0)AT2 isoform h1 (human)


protein O-mannosyl-transferase TMTC3 isoform h2 (human)


lamina-associated polypeptide 2 isoform alpha (human)


solute carrier family 15 member 4 isoform h1 (human)


cyclin-dependent kinase 2 isoform h1 (human)


RISC-loading complex subunit TARBP2 isoform h1 (human)


pro-FMRFamide-related neuropeptide FF isoform h1 (human)


cysteine sulfinic acid decarboxylase isoform h3 (human)


receptor tyrosine-protein kinase erbB-3 isoform h1 (human)


extended synaptotagmin-1 isoform h2 (human)


Rho-related GTP-binding protein RhoF isoform h1 (human)


GTP-binding protein REM 2 isoform h1 (human)


Bietti crystalline corneoretinal dystrophy


TERF1-interacting nuclear factor 2 isoform h1 (human)


fat storage-inducing transmembrane protein 1 isoform 1 (human)


Fanconi anemia group M protein isoform h1 (human)


L-2-hydroxyglutarate dehydrogenase, mitochondrial isoform h1 (human)


Jun dimerization protein 2 isoform h2 (human)


inositol-tetrakisphosphate 1-kinase isoform h1 (human)


thyroid receptor-interacting protein 11 isoform h1 (human)


branched-chain keto acid dehydrogenase kinase deficiency


infantile hypertrophic cardiomyopathy due to MRPL44 deficiency


ER membrane protein complex subunit 4 isoform 1 (human)


dual oxidase maturation factor 1 isoform h2 (human)


zinc finger protein 280D isoform h1 (human)


sorbitol dehydrogenase isoform 1 (human)


LysM and putative peptidoglycan-binding domain-containing protein 2 isoform h1 (human)


long-chain fatty acid transport protein 2 isoform 1 (human)


fibroblast growth factor 7 isoform 1 (human)


histidine decarboxylase isoform h1 (human)


myocardial zonula adherens protein isoform 1 (human)


COMM domain-containing protein 4 isoform 1 (human)


ubiquitin-conjugating enzyme E2 Q2 isoform h1 (human)


Bcl-2-related protein A1 isoform h1 (human)


cholesterol side-chain cleavage enzyme, mitochondrial isoform h1 (human)


BBSome complex member BBS4 isoform h1 (human)


transcription factor PML isoform 1 (human)


a disintegrin and metalloproteinase with thrombospondin motifs 17 isoform h1 (human)


autosomal recessive congenital ichthyosis


WD repeat-containing protein 93 isoform h1 (human)


brain dopamine-serotonin vesicular transport disease


CREB-regulated transcription coactivator 3 isoform 1 (human)


mandibulofacial dysostosis with alopecia


elongation factor-like GTPase 1 isoform h1 (human)


autosomal recessive nonsyndromic hearing loss 22


pre-mRNA-splicing factor ATP-dependent RNA helicase PRP16 isoform h1 (human)


peroxisomal coenzyme A diphosphatase NUDT7 isoform h1 (human)


CKLF-like MARVEL transmembrane domain-containing protein 2 isoform h1 (human)


zinc finger CCHC domain-containing protein 14 isoform h1 (human)


adenosine deaminase domain-containing protein 2 isoform h2 (human)


NADH dehydrogenase [ubiquinone] 1 beta subcomplex subunit 10 isoform h1 (human)


dynein regulatory complex subunit 4 isoform 1 (human)


nuclear receptor corepressor 1 isoform h1 (human)


COP9 signalosome complex subunit 3 isoform 1 (human)


phosphoribosyl pyrophosphate synthase-associated protein 2 isoform 1 (human)


Charcot-Marie-Tooth disease X-linked recessive 5


protein unc-45 homolog B isoform 1 (human)


small G protein signaling modulator 2 isoform h2 (human)


rhomboid-related protein 3 isoform 1 (human)


sperm acrosome membrane-associated protein 3 isoform h1 (human)


ATP-binding cassette sub-family A member 10 isoform h1 (human)


agenesis of corpus callosum, cardiac, ocular, and genital syndrome


inositol monophosphatase 2 isoform h1 (human)


zinc transporter ZIP6 isoform h1 (human)


polypeptide N-acetylgalactosaminyltransferase 1 isoform 1 (human)


putative Polycomb group protein ASXL3 isoform h1 (human)


GRB2-associated and regulator of MAPK protein 1 isoform h1 (human)


N-acetyltransferase ESCO1 isoform h1 (human)


transcription factor GATA-6 isoform h1 (human)


NPC intracellular cholesterol transporter 1 isoform h1 (human)


zinc finger MYND domain-containing protein 15 isoform h3 (human)


asialoglycoprotein receptor 1 isoform hH1a (human)


cellular tumor antigen p53 isoform 1 (human)


protein tweety homolog 2 isoform h1 (human)


E3 ubiquitin ligase RNF157 isoform h1 (human)


centrosomal protein of 131 kDa isoform h1 (human)


E3 SUMO-protein ligase CBX4 isoform h1 (human)


E3 ubiquitin-protein ligase ARK2C isoform h1 (human)


zinc finger CCHC domain-containing protein 2 isoform h1 (human)


receptor tyrosine-protein kinase erbB-2 isoform h1 (human)


insulin-like growth factor-binding protein 4 isoform h1 (human)


zinc transporter ZIP3 isoform h1 (human)


A0AB56DNF6_HUMAN PR domain zinc finger protein 15 (trembl)


ATP-dependent 6-phosphofructokinase, liver type isoform 1 (human)


X-linked intellectual disability-short stature-overweight syndrome


calcium and integrin-binding family member 3 isoform h1 (human)


doublesex- and mab-3-related transcription factor C2 isoform h1 (human)


arthrogryposis multiplex congenita 2, neurogenic type


2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial isoform h1 (human)


nonsense-mediated mRNA decay factor SMG9 isoform 1 (human)


pregnancy-specific beta-1-glycoprotein 9 isoform h1 (human)


recombinase activating gene 1 deficiency


combined immunodeficiency with skin granulomas


progesterone-receptor positive breast cancer


interferon alpha/beta receptor 1 isoform h1 (human)


SIK1_HUMAN Serine/threonine-protein kinase SIK1 (sprot)


microcephaly, growth deficiency, seizures, and brain malformations


DNA (cytosine-5)-methyltransferase 3-like isoform h2 (human)


N-terminal kinase-like protein isoform h1 (human)


SUMO-activating enzyme subunit 1 isoform h1 (human)


evolutionarily conserved signaling intermediate in Toll pathway, mitochondrial isoform h1 (human)


multidrug and toxin extrusion protein 1 isoform h1 (human)


kelch domain-containing protein 4 isoform h1 (human)


testicular acid phosphatase isoform h1 (human)


histone-lysine N-methyltransferase PRDM16 isoform h1 (human)


Rho guanine nucleotide exchange factor 19 isoform h1 (human)


6-phosphogluconate dehydrogenase, decarboxylating isoform 1 (human)


serine/threonine-protein kinase PLK4 isoform h1 (human)


tubulointerstitial nephritis antigen-like isoform h1 (human)


choline transporter-like protein 3 isoform h1 (human)


formin-binding protein 1-like isoform 1 (human)


autosomal recessive spinocerebellar ataxia 2


proteasome subunit alpha type-5 isoform 1 (human)


primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency


mitochondrial pyruvate carrier deficiency


low affinity immunoglobulin gamma Fc region receptor II-a isoform h1 (human)


Fc receptor-like protein 4 isoform h1 (human)


myocyte-specific enhancer factor 2D isoform hMEF2DAB (human)


exopolyphosphatase PRUNE1 isoform h1 (human)


histone-lysine N-methyltransferase SETDB1 isoform h1 (human)


pogo transposable element with ZNF domain isoform h1 (human)


Golgi phosphoprotein 3-like isoform 1 (human)


COG7-congenital disorder of glycosylation


voltage-gated delayed rectifier potassium channel KCNH1 isoform 2 (human)


eukaryotic translation initiation factor 2D isoform h1 (human)


cyclic AMP-responsive element-binding protein 3-like protein 4 isoform h1 (human)


low molecular weight phosphotyrosine protein phosphatase isoform 2 (human)


splicing regulator SDE2 isoform h1 (human)


multiple myeloma tumor-associated protein 2 isoform h1 (human)


V-type proton ATPase subunit C 2 isoform 1 (human)


ATP-binding cassette sub-family G member 8 isoform h1 (human)


WD repeat-containing and planar cell polarity effector protein fritz homolog isoform h1 (human)


heart defect - tongue hamartoma - polysyndactyly syndrome


vacuolar protein sorting-associated protein 54 isoform 1 (human)


regenerating islet-derived protein 3-gamma isoform h1 (human)


C-type lectin domain family 4 member F isoform h1 (human)


homeobox protein Meis1 isoform 1 (human)


facioscapulohumeral muscular dystrophy 3, digenic


small ribosomal subunit protein uS5m isoform h1 (human)


RNA/RNP complex-1-interacting phosphatase isoform h3 (human)


Ras-related protein Ral-B isoform h1 (human)


cyclic nucleotide-gated channel alpha-3 isoform 1 (human)


glucosylceramide transporter ABCA12 isoform h1 (human)


formylglycine-generating enzyme isoform h1 (human)


transcription cofactor HES-6 isoform 1 (human)


Ras-related protein Rab-5A isoform 1 (human)


carboxy-terminal domain RNA polymerase II polypeptide A small phosphatase 1 isoform 1 (human)


anion exchange protein 3 isoform h3 (human)


autosomal recessive nonsyndromic hearing loss 4


probable hydrolase PNKD isoform 1 (human)


CTD small phosphatase-like protein isoform 1 (human)


leucine-rich repeats and immunoglobulin-like domains protein 1 isoform h1 (human)


inter-alpha-trypsin inhibitor heavy chain H1 isoform h1 (human)


leucine-rich repeat and transmembrane domain-containing protein 1 isoform h1 (human)


congenital fiber-type disproportion myopathy


protein canopy homolog 2 isoform h1 (human)


zinc finger protein with KRAB and SCAN domains 7 isoform h1 (human)


palmitoyl-protein thioesterase ABHD10, mitochondrial isoform h1 (human)


phospholipase A1 member A isoform 1 (human)


cilia- and flagella-associated protein 91 isoform h7 (human)


V-type proton ATPase catalytic subunit A isoform 1 (human)


cytosolic 10-formyltetrahydrofolate dehydrogenase isoform h3 (human)


aminomethyltransferase, mitochondrial isoform 1 (human)


syntaxin-binding protein 5-like isoform h1 (human)