small intestine disorder

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SNIT1_HUMAN Uncharacterized protein encoded by SND1-IT1 (sprot)


peripheral primitive neuroectodermal tumor


hypertrichosis-acromegaloid facial appearance syndrome


Hearing abnormality

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Bietti crystalline corneoretinal dystrophy


microphthalmia with brain and digit anomalies


precursor T-cell acute lymphoblastic leukemia


CCL4_HUMAN C-C motif chemokine 4 (sprot)


very long chain acyl-CoA dehydrogenase deficiency


hereditary neuropathy with liability to pressure palsies


familial cold autoinflammatory syndrome 3


GPHRA_HUMAN Golgi pH regulator A (sprot)


inborn disorder of pyrimidine metabolism


precursor B-cell acute lymphoblastic leukemia


combined hepatocellular carcinoma and cholangiocarcinoma


CDR1_HUMAN Cerebellar degeneration-related antigen 1 (sprot)


X-linked intellectual disability-macrocephaly-macroorchidism syndrome


maternal uniparental disomy of chromosome 16


ASCL5_HUMAN Achaete-scute homolog 5 (sprot)


generalized epilepsy with febrile seizures plus, type 1


congenital fibrosis of extraocular muscles


hereditary diffuse gastric adenocarcinoma


mesial temporal lobe epilepsy with hippocampal sclerosis


posttransplant acute limbic encephalitis


squamous cell carcinoma of floor of mouth


Varicella zoster vaccine (live/attenuated)


frontotemporal dementia and/or amyotrophic lateral sclerosis 6


GVIN1_HUMAN Interferon-induced very large GTPase 1 (sprot)


diffuse infiltrative lymphocytosis syndrome


cystic leukoencephalopathy without megalencephaly


mucopolysaccharidosis type 2, attenuated form


progressive familial intrahepatic cholestasis


idiopathic mast cell activation syndrome


MGAT2-congenital disorder of glycosylation


congenital plasminogen activator inhibitor type 1 deficiency


thyroid gland undifferentiated (anaplastic) carcinoma


hereditary myopathy with lactic acidosis due to ISCU deficiency


qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan


TBC3A_HUMAN TBC1 domain family member 3 (sprot)


SG1C1_HUMAN Secretoglobin family 1C member 1 (sprot)


telangiectasia macularis eruptiva perstans


congenital diarrhea 5 with tufting enteropathy


primary intraosseous squamous cell carcinoma


polyhydramnios, megalencephaly, and symptomatic epilepsy


autosomal recessive intermediate Charcot-Marie-Tooth disease


ectodermal dysplasia-cutaneous syndactyly syndrome


adult-onset autosomal dominant demyelinating leukodystrophy


deficiency in anterior pituitary function - variable immunodeficiency syndrome


horizontal gaze palsy with progressive scoliosis


isolated growth hormone deficiency type II


DVLP1_HUMAN Putative segment polarity protein dishevelled homolog DVL1P1 (sprot)


poorly differentiated thyroid gland carcinoma


atypical childhood epilepsy with centrotemporal spikes


rosette-forming glioneuronal tumor of fourth ventricule


malignant pineal area germ cell neoplasm


arrhythmogenic cardiomyopathy with wooly hair and keratoderma


progressive supranuclear palsy-corticobasal syndrome


X-linked myopathy with excessive autophagy


spondylometaphyseal dysplasia, Kozlowski type


AHSA2_HUMAN Putative activator of 90 kDa heat shock protein ATPase homolog 2 (sprot)


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


isolated congenital hypogonadotropic hypogonadism


autosomal recessive nonsyndromic hearing loss 29


Vibrio cholerae CVD 103-HgR strain live antigen


carbamoyl phosphate synthetase I deficiency disease


Nijmegen breakage syndrome-like disorder


HS71B_HUMAN Heat shock 70 kDa protein 1B (sprot)


polycystic kidney disease 3 with or without polycystic liver disease


OFCC1_HUMAN Orofacial cleft 1 candidate gene 1 protein (sprot)


HECD4_HUMAN Probable E3 ubiquitin-protein ligase HECTD4 (sprot)


mitochondrial oxidative phosphorylation disorder


gastric adenocarcinoma and proximal polyposis of the stomach


autosomal recessive nonsyndromic hearing loss 9


early-onset generalized limb-onset dystonia


von Willebrand disease (hereditary or acquired)


autosomal recessive nonsyndromic hearing loss 30


hypoxanthine guanine phosphoribosyltransferase partial deficiency


autosomal recessive limb-girdle muscular dystrophy type 2T


hypercalcemic type ovarian small cell carcinoma


autosomal recessive Parkinson disease 14


CHMP3_HUMAN Charged multivesicular body protein 3 (sprot)


muscular dystrophy-dystroglycanopathy, type A


myopathy, myofibrillar, 9, with early respiratory failure


ocular melanoma with extraocular extension


acute myeloid leukemia with t(9;11)(p22;q23)


autosomal dominant nonsyndromic hearing loss 22


obesity due to congenital leptin deficiency


BMI1_HUMAN Polycomb complex protein BMI-1 (sprot)


hematopoietic and lymphoid system neoplasm


autosomal recessive distal renal tubular acidosis


maternal uniparental disomy of chromosome 20


progesterone-receptor negative breast cancer


diffuse idiopathic pulmonary neuroendocrine cell hyperplasia


CXXC4_HUMAN CXXC-type zinc finger protein 4 (sprot)


DLGP2_HUMAN Disks large-associated protein 2 (sprot)


osteopathia striata with cranial sclerosis


putative ubiquitin carboxyl-terminal hydrolase 41 (human)


chronic lymphocytic leukemia/small lymphocytic lymphoma


childhood cerebellar astrocytic neoplasm


primary cutaneous follicle center lymphoma


TDH_HUMAN Inactive L-threonine 3-dehydrogenase, mitochondrial (sprot)


ovarian endometrioid adenocarcinoma with squamous differentiation


hereditary hypophosphatemic rickets with hypercalciuria


parotid gland carcinoma ex pleomorphic adenoma


autosomal recessive spinocerebellar ataxia 14


X-linked intellectual disability with marfanoid habitus


intellectual disability, autosomal dominant 1


oligoarticular juvenile idiopathic arthritis


Charcot-Marie-Tooth disease axonal type 2H


glycogen storage disease due to GLUT2 deficiency


inclusion body myopathy with Paget disease of bone and frontotemporal dementia


thiamine-responsive maple syrup urine disease


visual impairment and progressive phthisis bulbi


childhood central nervous system germinoma


maxillary sinus adenoid cystic carcinoma


multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome


hereditary hyperferritinemia with congenital cataracts


hereditary sensory and autonomic neuropathy


autosomal dominant Charcot-Marie-Tooth disease type 2K


refractory anemia with excess blasts in transformation


multisystemic smooth muscle dysfunction syndrome


cutaneous T-cell lymphoma-associated antigen 1 isoform 2 (human)


susceptibility to familial cutaneous melanoma


recurrent infections associated with rare immunoglobulin isotypes deficiency


frontonasal dysplasia with alopecia and genital anomaly


cholesterol-ester transfer protein deficiency


acquired idiopathic inflammatory myopathy


colon mucosa-associated lymphoid tissue lymphoma


growth hormone-producing pituitary gland adenoma


autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome


autosomal recessive nonsyndromic hearing loss 12


partial deletion of the long arm of chromosome 7


cone dystrophy with supernormal rod response


MYZAP_HUMAN Myocardial zonula adherens protein (sprot)


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


low grade fibromyxoid sarcoma with giant collagen rosettes


autosomal recessive nonsyndromic hearing loss 26


autosomal recessive spinocerebellar ataxia 20


autosomal recessive ataxia due to ubiquinone deficiency


POTED_HUMAN POTE ankyrin domain family member D (sprot)


mucinous tubular and spindle renal cell carcinoma


synchronous multifocal osteogenic sarcoma


X-linked intellectual disability, Cabezas type


hennekam lymphangiectasia-lymphedema syndrome 3


syndromic X-linked intellectual disability Siderius type


polyarticular juvenile idiopathic arthritis


Hodgkin's lymphoma, lymphocytic depletion


inherited glutathione synthetase deficiency


autosomal recessive centronuclear myopathy


salivary gland carcinoma ex pleomorphic adenoma


short stature-wormian bones-dextrocardia syndrome


solid pseudopapillary neoplasm of the pancreas


respiratory syncytial virus infectious disease


ectodermal dysplasia-syndactyly syndrome 1


autosomal recessive hydrocephalus due to congenital stenosis of aqueduct of Sylvius


AN18B_HUMAN Ankyrin repeat domain-containing protein 18B (sprot)


posterior polymorphous corneal dystrophy 3


TMM75_HUMAN Putative protein encoded by LINC02912 (sprot)


Decreased circulating renin concentration


relapsed/refractory diffuse large B-cell lymphoma


periodic fever, immunodeficiency, and thrombocytopenia syndrome


PM2P2_HUMAN Putative postmeiotic segregation increased 2-like protein 2 (sprot)


congenital dyserythropoietic anemia type 3


rapidly involuting congenital hemangioma


bladder inflammatory myofibroblastic tumor


intellectual disability, autosomal dominant 5


combined pituitary hormone deficiencies, genetic form


attenuated familial adenomatous polyposis


neurometabolic disorder due to serine deficiency


infantile-onset ascending hereditary spastic paralysis


pure or complex hereditary spastic paraplegia


interstitial granulomatous dermatitis with arthritis


severe dermatitis-multiple allergies-metabolic wasting syndrome


well-differentiated fetal adenocarcinoma of the lung


ALG11-congenital disorder of glycosylation


congenital generalized lipodystrophy type 3


DSCR8_HUMAN Down syndrome critical region protein 8 (sprot)


spondylometaphyseal dysplasia, Sedaghatian type


hypertrophic osteoarthropathy, primary, autosomal recessive, 2


frontotemporal dementia with motor neuron disease


short stature-brachydactyly-obesity-global developmental delay syndrome


GNRR2_HUMAN Putative gonadotropin-releasing hormone II receptor (sprot)


eosinophilic granulomatosis with polyangiitis


congenital fiber-type disproportion myopathy


TCAM2_HUMAN TIR domain-containing adapter molecule 2 (sprot)


brachydactyly-elbow wrist dysplasia syndrome


mitochondrial trifunctional protein deficiency


partially involuting congenital hemangioma


Abnormal morphology of the vestibule of the inner ear


epidermolysis bullosa simplex 1C, localized


SERHL_HUMAN Serine hydrolase-like protein (sprot)


neurodevelopmental disorder with involuntary movements


Rab GTPase-activating protein 1-like, isoform 10 (human)


X-linked dominant hypophosphatemic rickets


well differentiated papillary mesothelioma


pineal parenchymal tumor of intermediate differentiation


enthesitis-related juvenile idiopathic arthritis


short chain acyl-CoA dehydrogenase deficiency


central nervous system infectious disorder


ectodermal dysplasia and immune deficiency


qualitative or quantitative defects of gamma-sarcoglycan


glycogen storage disease due to lactate dehydrogenase M-subunit deficiency


ALK-positive anaplastic large cell lymphoma


ZBTB3_HUMAN Zinc finger and BTB domain-containing protein 3 (sprot)


epithelioid malignant peripheral nerve sheath tumor


Pelizaeus-Merzbacher disease, transitional form


PRB4_HUMAN Basic salivary proline-rich protein 4 (sprot)


encephalopathy due to mitochondrial and peroxisomal fission defect


duodenal neuroendocrine tumor, well differentiated, low or intermediate grade


amyotrophic lateral sclerosis type 2, juvenile


progressive familial intrahepatic cholestasis type 2


Increased circulating immunoglobulin concentration


extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor


hereditary papillary renal cell carcinoma


autosomal dominant nocturnal frontal lobe epilepsy


Recombinant Bacterial ACE2 Receptors-like Enzyme


Ehlers-Danlos syndrome, arthrochalasia type


obesity due to melanocortin 4 receptor deficiency


syndromic X-linked intellectual disability Snyder type


small intestinal neuroendocrine tumor G1


cerebellar ataxia, intellectual disability, and dysequilibrium


F215A_HUMAN Uncharacterized protein FAM215A (sprot)


TSPO gene translation product isoform PBR-S (human)


familial thoracic aortic aneurysm and aortic dissection


craniofacial dysplasia - osteopenia syndrome


epidermolysis bullosa simplex superficialis


autosomal dominant nonsyndromic hearing loss 6


congenital generalized lipodystrophy type 2


Noonan syndrome-like disorder with loose anagen hair 2


mitochondrial complex III deficiency nuclear type 5


methylmalonic aciduria and homocystinuria


autosomal recessive severe congenital neutropenia


IGHG4_HUMAN Immunoglobulin heavy constant gamma 4 (sprot)


porphyria due to ALA dehydratase deficiency


alpha thalassemia-intellectual disability syndrome type 1


myelodysplastic syndrome with single lineage dysplasia


bile duct mucinous cystic neoplasm with an associated invasive carcinoma


fatal multiple mitochondrial dysfunctions syndrome


pyoderma gangrenosum-acne-suppurative hidradenitis syndrome


duodenal gastrin-producing neuroendocrine tumor


X-linked mixed hearing loss with perilymphatic gusher


X-linked Emery-Dreifuss muscular dystrophy


macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome


sickle cell-hemoglobin c disease syndrome


polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly


salivary gland basal cell adenocarcinoma


ceroid lipofuscinosis, neuronal, 4 (Kufs type)


TIAF1_HUMAN Putative TGFB1-induced anti-apoptotic factor 1 (sprot)


progressive pseudorheumatoid arthropathy of childhood


lamina-associated polypeptide 2 isoform alpha (human)


congenital muscular dystrophy-infantile cataract-hypogonadism syndrome


distal hereditary motor neuropathy type 7


X-linked lymphoproliferative disease due to XIAP deficiency


X-linked intellectual disability-psychosis-macroorchidism syndrome


HILS1_HUMAN Putative histone H1.9 (sprot)


febrile infection-related epilepsy syndrome


WIT1_HUMAN Putative Wilms tumor upstream neighbor 1 gene protein (sprot)


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome


intellectual disability, autosomal dominant 24


autism spectrum disorder due to AUTS2 deficiency


posterior polymorphous corneal dystrophy 1


familial juvenile hyperuricemic nephropathy type 2


biliary atresia with splenic malformation syndrome


congenital insensitivity to pain-hypohidrosis syndrome


Hodgkin's lymphoma, lymphocytic-histiocytic predominance


subcutaneous panniculitis-like T-cell lymphoma


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


congenital myopathy 2a, typical, autosomal dominant


retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations


idiopathic chronic eosinophilic pneumonia


recessive dystrophic epidermolysis bullosa


autosomal recessive nonsyndromic hearing loss 1A


encephalopathy due to hydroxykynureninuria


SDIM1_HUMAN Stress-responsive DNAJB4-interacting membrane protein 1 (sprot)


cystic partially differentiated nephroblastoma


Phosphoaminophosphonic acid guanylate ester


short-rib thoracic dysplasia 9 with or without polydactyly


renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusions


mitochondrial DNA depletion syndrome 7 (hepatocerebral type)


desmin-related myopathy with Mallory body-like inclusions


simian acquired immunodeficiency syndrome


isolated growth hormone deficiency type III


SPNXA_HUMAN Sperm protein associated with the nucleus on the X chromosome A (sprot)


rhizomelic chondrodysplasia punctata type 3


multiple acyl-CoA dehydrogenase deficiency


autosomal recessive nonsyndromic hearing loss 97


fatty acid hydroxylase-associated neurodegeneration


transitional cell carcinoma of the corpus uteri


autosomal recessive limb-girdle muscular dystrophy type 2D


severe nonproliferative diabetic retinopathy


autosomal dominant nonsyndromic hearing loss 51


temporomandibular joint dysfunction syndrome


diffuse large B-cell lymphoma of the central nervous system


CAR17_HUMAN Putative caspase recruitment domain-containing protein 17P (sprot)


mitochondrial myopathy-lactic acidosis-deafness syndrome


monoclonal gammopathy of uncertain significance


primary cutaneous T-cell non-Hodgkin lymphoma


partial deletion of the long arm of chromosome 13


combined oxidative phosphorylation deficiency 19


maturity-onset diabetes of the young type 2


COG8-congenital disorder of glycosylation


myopathy, lactic acidosis, and sideroblastic anemia


congenital hypotrichosis with juvenile macular dystrophy


congenital pulmonary airway malformation


polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG


drug-induced autoimmune hemolytic anemia


PLAC4_HUMAN Placenta-specific protein 4 (sprot)


nephrotic syndrome of childhood - steroid sensitive


radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome


KCRU_HUMAN Creatine kinase U-type, mitochondrial (sprot)


progesterone-receptor positive breast cancer


Noonan syndrome with multiple lentigines


autosomal recessive distal spinal muscular atrophy 1


arrhythmogenic right ventricular cardiomyopathy


SLX1_HUMAN Structure-specific endonuclease subunit SLX1 (sprot)


nasopharyngeal type undifferentiated carcinoma


intellectual disability, X-linked, syndromic, Bain type


cerebrofacial arteriovenous metameric syndrome


hereditary sensory and autonomic neuropathy type 7


intervertebral disk degenerative disorder


juvenile type testicular granulosa cell tumor


spinocerebellar ataxia, autosomal recessive 23


idiopathic hypersomnia without long sleep time


PGM1-congenital disorder of glycosylation


Dianzani autoimmune lymphoproliferative disease


early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome


cleft lip/palate-ectodermal dysplasia syndrome


congenital disorder of glycosylation, type IAA


autosomal recessive proximal renal tubular acidosis


congenital fibrosis of extraocular muscles type 1


T-cell large granular lymphocyte leukemia


autosomal recessive nonsyndromic hearing loss 59


X-linked hypohidrotic ectodermal dysplasia


CL3L1_HUMAN C-C motif chemokine 3-like 1 (sprot)


developmental and epileptic encephalopathy, 39


PI4P2_HUMAN Putative phosphatidylinositol 4-kinase alpha-like protein P2 (sprot)


autoimmune disorder of central nervous system


non-functional pancreatic neuroendocrine tumor


rheumatoid factor-negative juvenile idiopathic arthritis


Pelizaeus-Merzbacher disease, classic form


benign recurrent intrahepatic cholestasis


autosomal dominant cerebellar ataxia, deafness and narcolepsy


multilocular clear cell renal cell carcinoma


skeletal dysplasia-intellectual disability syndrome


congenital hypothalamic hamartoma syndrome


spinal cord primitive neuroectodermal tumor


familial juvenile hyperuricemic nephropathy type 1


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


chronic inflammatory demyelinating polyradiculoneuropathy


fibrosis, neurodegeneration, and cerebral angiomatosis


cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome


autosomal recessive limb-girdle muscular dystrophy type 2C


digestive system neuroendocrine neoplasm


autosomal dominant nonsyndromic hearing loss 36


prolactin-producing pituitary gland carcinoma


SSF1_HUMAN Suppressor of SWI4 1 homolog (sprot)


IGHG1_HUMAN Immunoglobulin heavy constant gamma 1 (sprot)


CENPS_HUMAN Centromere protein S (sprot)


autosomal recessive nonsyndromic hearing loss 3


intellectual developmental disorder with dysmorphic facies and ptosis


central nervous system melanocytic neoplasm


HS902_HUMAN Heat shock protein HSP 90-alpha A2 (sprot)


Ewing sarcoma/peripheral primitive neuroectodermal tumor


glycogen storage disease due to glucose-6-phosphatase deficiency type IA


undifferentiated connective tissue syndrome


rhabdoid tumor predisposition syndrome 2


autosomal dominant childhood-onset proximal spinal muscular atrophy


lethal arthrogryposis-anterior horn cell disease syndrome


LRRC7_HUMAN Leucine-rich repeat-containing protein 7 (sprot)


combined deficiency of factor V and factor VIII


autosomal recessive nonsyndromic hearing loss 2


distal hereditary motor neuropathy type 2


CCZ1_HUMAN Vacuolar fusion protein CCZ1 homolog (sprot)


gastric mucosa-associated lymphoid tissue lymphoma


autosomal recessive inherited pseudoxanthoma elasticum


myeloid neoplasm associated with FGFR1 rearrangement


myelodysplastic syndrome with excess blasts


autosomal dominant nonsyndromic hearing loss 17


hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1


IGHM_HUMAN Immunoglobulin heavy constant mu (sprot)


short rib-polydactyly syndrome, Majewski type


acute inflammatory demyelinating polyradiculoneuropathy


congenital generalized lipodystrophy type 1


generalized galactose epimerase deficiency


body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency


ALG6-congenital disorder of glycosylation 1C


KRA23_HUMAN Keratin-associated protein 2-3 (sprot)


autosomal dominant medullary cystic kidney disease with or without hyperuricemia


carnitine palmitoyltransferase II deficiency


autosomal dominant distal renal tubular acidosis


complete androgen insensitivity syndrome


autoinflammation with arthritis and dyskeratosis


thyroid hormone resistance, generalized, autosomal recessive


succinyl-CoA:3-ketoacid CoA transferase deficiency


microcephalic osteodysplastic dysplasia, Saul-Wilson type


autosomal recessive nonsyndromic hearing loss 8


isolated focal cortical dysplasia type IIa


hematopoietic and lymphoid cell neoplasm


PTTG3_HUMAN Putative pituitary tumor-transforming gene 3 protein (sprot)


KAAG1_HUMAN Kidney-associated antigen 1 (sprot)


zinc-responsive necrolytic acral erythema


diffuse nonepidermolytic palmoplantar keratoderma


DEF1_HUMAN Neutrophil defensin 1 (sprot)


spondyloepiphyseal dysplasia with congenital joint dislocations


NPY4R_HUMAN Neuropeptide Y receptor type 4 (sprot)


neurodegeneration with brain iron accumulation 6


Langerhans cell histiocytosis specific to childhood


ISY1_HUMAN Pre-mRNA-splicing factor ISY1 homolog (sprot)


chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids


KI3L3_HUMAN Killer cell immunoglobulin-like receptor 3DL3 (sprot)


epidermolysis bullosa simplex due to plakophilin deficiency


autosomal recessive limb-girdle muscular dystrophy type 2I


chronic thromboembolic pulmonary hypertension


yolk sac tumor of central nervous system


progressive myoclonic epilepsy with dystonia


Japanese encephalitis virus strain sa 14-14-2 antigen (formaldehyde inactivated)


progressive encephalopathy with leukodystrophy due to DECR deficiency


intracranial primitive neuroectodermal tumor


autosomal recessive limb-girdle muscular dystrophy type 2H


maturity-onset diabetes of the young type 8


progressive relapsing multiple sclerosis


familial hemophagocytic lymphohistiocytosis 2


inborn mitochondrial metabolism disorder


OR3A4_HUMAN Putative olfactory receptor 3A4 (sprot)


myeloid neoplasm associated with PDGFRA rearrangement


dopa-responsive dystonia due to sepiapterin reductase deficiency


renal tubular acidosis, distal, 3, with or without sensorineural hearing loss


autosomal dominant nonsyndromic hearing loss 4B


AN32C_HUMAN Putative uncharacterized protein ANP32CP (sprot)


neuronopathy, distal hereditary motor, autosomal recessive 4


polyarticular juvenile rheumatoid arthritis


ABC3A_HUMAN DNA dC->dU-editing enzyme APOBEC-3A (sprot)


mitochondrial DNA depletion syndrome 6 (hepatocerebral type)


CATR1_HUMAN CATR tumorigenic conversion 1 protein (sprot)


early-onset myopathy with fatal cardiomyopathy


primary melanoma of the central nervous system


PTPRQ_HUMAN Phosphatidylinositol phosphatase PTPRQ (sprot)


melanoma, cutaneous malignant, susceptibility to, 2


DIRC1_HUMAN Disrupted in renal carcinoma protein 1 (sprot)


torsin-1A-interacting protein 2 isoform IFRG15 (human)


muscular dystrophy-dystroglycanopathy type B5


sinoatrial node dysfunction and deafness


TNF receptor 1-associated periodic fever syndrome


spondyloepiphyseal dysplasia with metatarsal shortening


autosomal recessive spinocerebellar ataxia 10


HSFX1_HUMAN Heat shock transcription factor, X-linked (sprot)


acute generalized exanthematous pustulosis


splenic diffuse red pulp small B-cell lymphoma


celiac disease-epilepsy-cerebral calcification syndrome


enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor


progeroid features-hepatocellular carcinoma predisposition syndrome


paternal uniparental disomy of chromosome 13


restless legs syndrome, susceptibility to, 6


disseminated superficial actinic porokeratosis


primary mediastinal large B-cell lymphoma


familial isolated hypoparathyroidism due to agenesis of parathyroid gland


acute myeloid leukemia with t(6;9)(p23;q34)


lissencephaly with cerebellar hypoplasia


paternal uniparental disomy of chromosome 7


pulmonary non-tuberculous mycobacterial infection


syndromic X-linked intellectual disability 5


rhabdoid tumor predisposition syndrome 1


AIDS-related primary central nervous system lymphoma


syndromic X-linked intellectual disability Lubs type


epidermolysis bullosa simplex 5B, with muscular dystrophy


autosomal recessive hypophosphatemic rickets


rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome


spondyloepimetaphyseal dysplasia, Missouri type


anti-neutrophil cytoplasmic antibody-associated vasculitis


breast mucosa-associated lymphoid tissue lymphoma


GUC1A_HUMAN Guanylyl cyclase-activating protein 1 (sprot)


minor salivary gland adenoid cystic carcinoma


methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency


long chain 3-hydroxyacyl-CoA dehydrogenase deficiency


generalized junctional epidermolysis bullosa non-Herlitz type


congenital stationary night blindness 1B


cholesterol biosynthetic process disease


cervical squamous intraepithelial neoplasia


Charcot-Marie-Tooth disease X-linked dominant 1


free sialic acid storage disease, infantile form


paternal uniparental disomy of chromosome 14


junctional epidermolysis bullosa with pyloric atresia


febrile ulceronecrotic Mucha-Habermann disease


Trichomonas vaginitis urogenital infection


Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome


HS71A_HUMAN Heat shock 70 kDa protein 1A (sprot)


blepharophimosis - intellectual disability syndrome, SBBYS type


Ehlers-Danlos syndrome, spondylodysplastic type


neuronal ceroid lipofuscinosis 8 northern epilepsy variant


familial hemophagocytic lymphohistiocytosis 3


autoimmune lymphoproliferative syndrome type 4


undifferentiated high grade pleomorphic sarcoma of bone


multiple system atrophy, parkinsonian type


non-syndromic X-linked intellectual disability


isolated thyrotropin-releasing hormone deficiency


liver inflammatory myofibroblastic tumor


Abnormal curvature of the vertebral column


malignant tumor of extrahepatic bile duct


trichomegaly-retina pigmentary degeneration-dwarfism syndrome


succinic semialdehyde dehydrogenase deficiency


epilepsy, childhood absence, susceptibility to, 1


chronic lymphoproliferative disorder of NK-cells


combined immunodeficiency due to DOCK8 deficiency


MPDU1-congenital disorder of glycosylation


familial atypical multiple mole melanoma syndrome


multiple mitochondrial dysfunctions syndrome 2


nodular lymphocyte predominant Hodgkin lymphoma


autosomal recessive limb-girdle muscular dystrophy type 2B


mixed epithelial stromal tumor of the kidney


maternal uniparental disomy of chromosome 22


autosomal dominant nonsyndromic hearing loss 9


combined pulmonary fibrosis-emphysema syndrome


T-cell/histiocyte rich large B cell lymphoma


hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency


skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome


central nervous system primitive neuroectodermal neoplasm


esophageal small cell neuroendocrine carcinoma


autosomal recessive spinocerebellar ataxia 7


PMM2-congenital disorder of glycosylation


bilateral acute depigmentation of the iris


familial isolated deficiency of vitamin E


paternal uniparental disomy of chromosome 20


congenital cataracts-facial dysmorphism-neuropathy syndrome


multiple congenital anomalies-hypotonia-seizures syndrome 1


DSCR4_HUMAN Down syndrome critical region protein 4 (sprot)


IGHA2_HUMAN Immunoglobulin heavy constant alpha 2 (sprot)


epidermolysis bullosa simplex 5C, with pyloric atresia


aldosterone-producing adrenal cortex adenoma


TVA29_HUMAN T cell receptor alpha variable 29/delta variable 5 (sprot)


LPAL2_HUMAN Putative apolipoprotein(a)-like protein 2 (sprot)


familial or sporadic hemiplegic migraine


IgG4-related dacryoadenitis and sialadenitis


mixed epithelial/mesenchymal metaplastic breast carcinoma


46,XY ovotesticular disorder of sex development


hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration


immunodeficiency due to a late component of complement deficiency


congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency


acyl-CoA binding domain containing protein 5 deficiency


carbon monoxide-induced delayed encephalopathy


FOXO6_HUMAN Forkhead box protein O6 (sprot)


MYCP1_HUMAN Putative myc-like protein MYCLP1 (sprot)


autosomal recessive nonsyndromic hearing loss 74


autosomal recessive nonsyndromic hearing loss 23


autosomal recessive nonsyndromic hearing loss 42


SMN_HUMAN Survival motor neuron protein (sprot)


congenital dyserythropoietic anemia type 1


familial focal epilepsy with variable foci


catecholaminergic polymorphic ventricular tachycardia


constitutional megaloblastic anemia with severe neurologic disease


autosomal dominant polycystic liver disease


deaf blind hypopigmentation syndrome, Yemenite type


CTG1B_HUMAN Cancer/testis antigen 1 (sprot)


classic or attenuated familial adenomatous polyposis


obesity due to pro-opiomelanocortin deficiency


congenital stationary night blindness autosomal dominant 3


striatal degeneration, autosomal dominant


well-differentiated thymic neuroendocrine carcinoma


PRPC_HUMAN Salivary acidic proline-rich phosphoprotein 1/2 (sprot)


Curly hair - acral keratoderma - caries syndrome


maternal uniparental disomy of chromosome 1


chronic intestinal vascular insufficiency


muscular dystrophy-dystroglycanopathy type B6


circadian rhythm sleep disorder, delayed sleep phase type


autosomal recessive sideroblastic anemia


autosomal dominant hypophosphatemic rickets


immunoglobulin G4-related sclerosing disease


benign concentric annular macular dystrophy


keratosis follicularis spinulosa decalvans


colon small cell neuroendocrine carcinoma


autosomal recessive nonsyndromic hearing loss 28


Charcot-Marie-Tooth disease X-linked recessive 5


food protein-induced enterocolitis syndrome


BIRC8_HUMAN Baculoviral IAP repeat-containing protein 8 (sprot)


adult acute respiratory distress syndrome


digestive system neuroendocrine tumor, grade 1/2


PAX4_HUMAN Paired box protein Pax-4 (sprot)


inherited fatty acid metabolism disorder


DUX4C_HUMAN Double homeobox protein 4C (sprot)


neurodegeneration with brain iron accumulation


congenital bilateral aplasia of vas deferens from CFTR mutation


ALG3-congenital disorder of glycosylation


metaphyseal chondrodysplasia, Jansen type


gastric neuroendocrine tumor, well differentiated, low or intermediate grade


solid pseudopapillary carcinoma of pancreas


familial partial lipodystrophy, Dunnigan type


ST1A3_HUMAN Sulfotransferase 1A3 (sprot)


Bordetella pertussis filamentous hemagglutinin vaccine, inactivated


B-cell childhood acute lymphoblastic leukemia


congenital merosin-deficient muscular dystrophy 1A


SG11A_HUMAN Sperm-associated antigen 11A (sprot)


CSAG2_HUMAN Chondrosarcoma-associated gene 2/3 protein (sprot)


hereditary leiomyomatosis and renal cell cancer


pyruvate carboxylase deficiency, severe neonatal type


KCQ1D_HUMAN KCNQ1 downstream neighbor protein (sprot)


GATA2 deficiency with susceptibility to MDS/AML


anterior cutaneous nerve entrapment syndrome


Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis


X-linked congenital stationary night blindness


syndromic X-linked intellectual disability Hedera type


idiopathic malabsorption due to bile acid synthesis defects


autosomal dominant centronuclear myopathy


congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome


congenital bilateral absence of vas deferens


purine nucleoside phosphorylase deficiency


primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma


methylmalonic aciduria and homocystinuria type cblC


childhood central nervous system germ cell tumor


autosomal recessive epidermolytic ichthyosis


NXF2_HUMAN Nuclear RNA export factor 2 (sprot)


GGT2_HUMAN Inactive glutathione hydrolase 2 (sprot)


MDS2_HUMAN Myelodysplastic syndrome 2 translocation-associated protein (sprot)


autosomal recessive spinocerebellar ataxia 16


PGSF1_HUMAN Putative uncharacterized protein encoded by MIR7-3HG (sprot)


COVID-19–associated multisystem inflammatory syndrome in children


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


inherited glutathione metabolism disease


pediatric acute respiratory distress syndrome


CD006_HUMAN Uncharacterized protein encoded by LINC01587 (sprot)


TVB79_HUMAN T cell receptor beta variable 7-9 (sprot)


SSX6_HUMAN Putative protein SSX6 (sprot)


MPI-congenital disorder of glycosylation


global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome


chronic relapsing inflammatory optic neuropathy


spondyloepimetaphyseal dysplasia, Strudwick type


syndactyly-telecanthus-anogenital and renal malformations syndrome


scapuloperoneal spinal muscular atrophy, autosomal dominant


diffuse idiopathic skeletal hyperostosis


sarcomatoid penile squamous cell carcinoma


adenosine monophosphate deaminase deficiency


Abnormality of the autonomic nervous system


primary familial polycythemia due to EPO receptor mutation


MAGA9_HUMAN Melanoma-associated antigen 9 (sprot)


TNI3K_HUMAN Serine/threonine-protein kinase TNNI3K (sprot)


acute myeloblastic leukemia without maturation


IGKC_HUMAN Immunoglobulin kappa constant (sprot)


Disproportionate short-limb short stature


childhood central nervous system primitive neuroectodermal neoplasm


unilateral multicystic dysplastic kidney


NBL1_HUMAN Neuroblastoma suppressor of tumorigenicity 1 (sprot)


microcephalic osteodysplastic primordial dwarfism type II


autoimmune polyendocrine syndrome type 1


sensory ataxic neuropathy, dysarthria, and ophthalmoparesis


hereditary sensory and autonomic neuropathy type 6


circadian rhythm sleep disorder, shift work type


autosomal recessive limb-girdle muscular dystrophy type 2E


autosomal recessive limb-girdle muscular dystrophy type 2A


RIPK4_HUMAN Receptor-interacting serine/threonine-protein kinase 4 (sprot)


deafness with labyrinthine aplasia, microtia, and microdontia


short-rib thoracic dysplasia 6 with or without polydactyly


autosomal dominant hypohidrotic ectodermal dysplasia


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


CLLU1_HUMAN Chronic lymphocytic leukemia up-regulated protein 1 (sprot)


TRBC2_HUMAN T cell receptor beta constant 2 (sprot)


autosomal recessive nonsyndromic hearing loss 31


corneal dystrophy-perceptive deafness syndrome


TRBC1_HUMAN T cell receptor beta constant 1 (sprot)


anomalous left coronary artery from the pulmonary artery


combined oxidative phosphorylation deficiency


undifferentiated embryonal sarcoma of the liver


heritable pulmonary arterial hypertension


thymic large cell neuroendocrine carcinoma


autosomal recessive nonsyndromic hearing loss 35


thyroid gland spindle cell tumor with thymus-like differentiation


growth hormone-producing pituitary gland neoplasm


trigonocephaly-short stature-developmental delay syndrome


ossification of the posterior longitudinal ligament of the spine


SLC35A2-congenital disorder of glycosylation


respiratory distress syndrome in premature infants


catecholaminergic polymorphic ventricular tachycardia 1


major salivary gland adenoid cystic carcinoma


genetic developmental and epileptic encephalopathy


therapy related acute myeloid leukemia and myelodysplastic syndrome


nodular sclerosis classical Hodgkin lymphoma


sinus histiocytosis with massive lymphadenopathy


TSPY1_HUMAN Testis-specific Y-encoded protein 1 (sprot)


functional pancreatic neuroendocrine tumor


benign female reproductive system neoplasm


autosomal recessive limb-girdle muscular dystrophy type 2P


acute myeloid leukemia with minimal differentiation


3,5-Dimethyl-1-(3-Nitrophenyl)-1h-Pyrazole-4-Carboxylic Acid Ethyl Ester


chronic enteropathy associated with SLCO2A1 gene


SMA5O_HUMAN SMAD5 antisense gene protein 1 (sprot)


congenital nonspherocytic hemolytic anemia


developmental and epileptic encephalopathy 94


acute myeloid leukemia with multilineage dysplasia


progressive familial intrahepatic cholestasis type 1


neonatal diabetes mellitus with congenital hypothyroidism


acquired thrombotic thrombocytopenic purpura


hypomagnesemia, seizures, and intellectual disability


patterned dystrophy of the retinal pigment epithelium


rheumatoid factor-positive polyarticular juvenile idiopathic arthritis


drug rash with eosinophilia and systemic symptoms


autosomal recessive congenital cerebellar ataxia


adult central nervous system germ cell tumor


low phospholipid associated cholelithiasis


idiopathic pulmonary arterial hypertension


pharyngeal-cervical-brachial variant of Guillain-Barre syndrome


Ras-related protein Rab-34 isoform NARR (human)


polymicrogyria with optic nerve hypoplasia


developmental and epileptic encephalopathy, 11


Noonan syndrome-like disorder with loose anagen hair


qualitative or quantitative defects of alpha-dystroglycan


hypogonadotropic hypogonadism 16 with or without anosmia


autosomal recessive multiple pterygium syndrome


T-cell childhood acute lymphocytic leukemia


spondyloepimetaphyseal dysplasia with multiple dislocations


squamous cell carcinoma of the oral tongue


megalencephalic leukoencephalopathy with subcortical cysts


XAGE1_HUMAN X antigen family member 1 (sprot)


familial hemophagocytic lymphohistiocytosis 5


KIF28_HUMAN Kinesin-like protein KIF28P (sprot)


TV23C_HUMAN Golgi apparatus membrane protein TVP23 homolog C (sprot)


central retinal vein occlusion with macular edema


amyotrophic lateral sclerosis-parkinsonism-dementia complex


cerebral primitive neuroectodermal tumor


CLCL1_HUMAN Putative C-type lectin-like domain family 1 (sprot)


rhizomelic chondrodysplasia punctata type 1


infiltrating bladder urothelial carcinoma


Epstein-Barr virus-associated gastric carcinoma


hypertrophic osteoarthropathy, primary, autosomal recessive, 1


infantile-onset X-linked spinal muscular atrophy


chromosome 17q11.2 deletion syndrome, 1.4Mb


mucoepidermoid carcinoma of submandibular gland


Influenza B virus B/Phuket/3073/2013 antigen (UV, formaldehyde inactivated)


HAP40_HUMAN 40-kDa huntingtin-associated protein (sprot)


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


hereditary disorder of connective tissue


TRGV3_HUMAN T cell receptor gamma variable 3 (sprot)


hereditary thrombocytopenia and hematologic cancer predisposition syndrome


hemolytic anemia due to pyrimidine 5' nucleotidase deficiency


autosomal recessive nonsyndromic hearing loss 67


short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome


MEF2B_HUMAN Myocyte-specific enhancer factor 2B (sprot)


breast fibrocystic change, proliferative type


familial encephalopathy with neuroserpin inclusion bodies


ocular albinism with late-onset sensorineural deafness


multicentric osteolysis, nodulosis, and arthropathy


ASB3_HUMAN Ankyrin repeat and SOCS box protein 3 (sprot)


estrogen-receptor positive breast cancer


Hirschsprung disease, cardiac defects, and autonomic dysfunction


B-cell lymphoma, unclassifiable, with features intermediate between diffuse large b-cell lymphoma and classical Hodgkin lymphoma


familial hemophagocytic lymphohistiocytosis 4


self-limited epilepsy with centrotemporal spikes


SIG16_HUMAN Sialic acid-binding Ig-like lectin 16 (sprot)


developmental defect during embryogenesis


chronic recurrent multifocal osteomyelitis


Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type


congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency


squamous cell carcinoma of buccal mucosa


posterior polymorphous corneal dystrophy


non-arteritic anterior ischemic optic neuropathy


BAGE2_HUMAN B melanoma antigen 2 (sprot)


mature T-cell and NK-cell non-Hodgkin lymphoma


congenital hereditary endothelial dystrophy of cornea


CDY1_HUMAN Testis-specific chromodomain protein Y 1 (sprot)


congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency


multiple system atrophy, cerebellar type


methylmalonic aciduria and homocystinuria type cblF


primary cutaneous anaplastic large cell lymphoma


primary central nervous system vasculitis


Abnormality of extrapyramidal motor function


hereditary breast ovarian cancer syndrome


CRYAA_HUMAN Alpha-crystallin A chain (sprot)


autoimmune pulmonary alveolar proteinosis


PLCX2_HUMAN PI-PLC X domain-containing protein 2 (sprot)


ECE2_HUMAN Endothelin-converting enzyme 2 (sprot)


intravascular papillary endothelial hyperplasia


autosomal dominant nonsyndromic hearing loss 5


pulmonary alveolar proteinosis with hypogammaglobulinemia


Ehlers-Danlos syndrome, hypermobility type


familial infantile bilateral striatal necrosis


acinar prostate adenocarcinoma, signet ring variant


facial onset sensory and motor neuronopathy


IGHG3_HUMAN Immunoglobulin heavy constant gamma 3 (sprot)


twin reversal arterial perfusion syndrome


autosomal dominant nonsyndromic hearing loss 15


congenital disorder of glycosylation type I


congenital hereditary endothelial dystrophy type I


pneumonia caused by gram negative bacteria


Abnormal posterior cranial fossa morphology


toxocara canis infection (canine roundworms)


infantile convulsions and choreoathetosis


autosomal recessive congenital ichthyosis 4B


isolated growth hormone deficiency type IB


autoimmune interstitial lung disease-arthritis syndrome


cerebrofacial arteriovenous metameric syndrome type 1


hypogonadotropic hypogonadism 24 without anosmia


SERF1_HUMAN Small EDRK-rich factor 1 (sprot)


RBM14_HUMAN RNA-binding protein 14 (sprot)


atypical hemolytic-uremic syndrome with anti-factor H antibodies


hereditary motor and sensory neuropathy type 6


homocystinuria due to methylene tetrahydrofolate reductase deficiency


CBS_HUMAN Cystathionine beta-synthase (sprot)


neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures


MAFIP_HUMAN MaFF-interacting protein (sprot)


language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia


congenital isolated adrenocorticotropic hormone deficiency


acute myeloblastic leukemia with maturation


carnitine palmitoyl transferase 1A deficiency


OPSG_HUMAN Medium-wave-sensitive opsin 1 (sprot)


autosomal dominant nonsyndromic hearing loss 28


cervical large cell neuroendocrine carcinoma


pterin-4 alpha-carbinolamine dehydratase 1 deficiency


coloboma of macula-brachydactyly type B syndrome


X-linked sideroblastic anemia with ataxia


neuronopathy, distal hereditary motor, type 5A


SOLH2_HUMAN Spermatogenesis- and oogenesis-specific basic helix-loop-helix-containing protein 2 (sprot)


human papillomavirus-related squamous cell carcinoma


neurodegeneration with brain iron accumulation 5


primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma


pancreatic intraductal papillary-mucinous neoplasm with low grade dysplasia


mixed somatotroph-lactotroph pituitary gland adenoma


attention deficit hyperactivity disorder, inattentive type


hepatic veno-occlusive disease-immunodeficiency syndrome


X-linked congenital generalized hypertrichosis


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


cutaneous undifferentiated pleomorphic sarcoma


thyroid gland papillary and follicular carcinoma


CT452_HUMAN Cancer/testis antigen family 45 member A2 (sprot)


hypothyroidism due to TSH receptor mutations


PAK6_HUMAN Serine/threonine-protein kinase PAK 6 (sprot)


NPIB3_HUMAN Nuclear pore complex-interacting protein family member B3 (sprot)


congenital myasthenic syndrome with tubular aggregates


melanoma and neural system tumor syndrome


hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome


familial partial lipodystrophy, Kobberling type


ALK-negative anaplastic large cell lymphoma


calcium-activated chloride channel regulator family member 3 (human)


early-onset autosomal dominant Alzheimer disease


autosomal dominant polycystic kidney disease


mucopolysaccharidosis type 2, severe form


progressive familial intrahepatic cholestasis type 3


qualitative or quantitative defects of alpha-sarcoglycan


small intestinal mucosa-associated lymphoid tissue lymphoma


neuronopathy, distal hereditary motor, autosomal recessive


L3R2A_HUMAN Putative uncharacterized protein encoded by LINC00312 (sprot)


progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome


secondary hyperparathyroidism of renal origin


autosomal recessive spondylocostal dysostosis


congenital generalized lipodystrophy type 4


SFTA3_HUMAN Surfactant-associated protein 3 (sprot)


neuronopathy, distal hereditary motor, autosomal recessive 8


tenosynovial giant cell tumor, diffuse type


eosinophilic variant of chromophobe renal cell carcinoma


nodular regenerative hyperplasia of the liver


glycogen storage disease due to glycogen branching enzyme deficiency


atypical chronic myeloid leukemia, BCR-ABL1 negative


juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome


corticosteroid-sensitive aseptic abscess syndrome


IFNA1_HUMAN Interferon alpha-1/13 (sprot)


holoprosencephaly-radial heart renal anomalies syndrome


CC4L_HUMAN C-C motif chemokine 4-like (sprot)


facioscapulohumeral muscular dystrophy 2


autosomal recessive congenital ichthyosis 11


primary pigmented nodular adrenocortical disease


congenital dyserythropoietic anemia type 4


SCNM1_HUMAN Sodium channel modifier 1 (sprot)


autosomal recessive nonsyndromic hearing loss 53


stapes ankylosis with broad thumbs and toes


FCGRB_HUMAN Putative high affinity immunoglobulin gamma Fc receptor IB (sprot)


autosomal recessive limb-girdle muscular dystrophy type 2G


murine acquired immunodeficiency syndrome


Anti-Myeloma Monoclonal Antibody-DM4 Immunoconjugate BT-062


psoriasis-related juvenile idiopathic arthritis


hereditary sensory and autonomic neuropathy type 2


autosomal dominant Emery-Dreifuss muscular dystrophy


CTGE4_HUMAN cTAGE family member 4 (sprot)


acute megakaryoblastic leukemia in down syndrome


porcine postweaning multisystemic wasting syndrome


qualitative or quantitative defects of dystrophin


congenital reticular ichthyosiform erythroderma


medullomyoblastoma with myogenic differentiation


Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly


microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability


Langerhans cell histiocytosis specific to adulthood


maternally-inherited diabetes and deafness


T-cell immunodeficiency, congenital alopecia, and nail dystrophy


Human blood group H type 1 trisaccharide


nephrogenic syndrome of inappropriate antidiuresis


autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation


acromesomelic dysplasia 2C, Hunter-Thompson type


acromesomelic dysplasia 1, Maroteaux type


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


hereditary sensory and autonomic neuropathy type 5


isolated thyroid-stimulating hormone deficiency


adult-onset foveomacular vitelliform dystrophy


Pseudomonas aeruginosa infectious disease


inherited focal segmental glomerulosclerosis


peripheral T-cell lymphoma, not otherwise specified


pseudoxanthoma elasticum (inherited or acquired)


renal pelvis/ureter urothelial carcinoma


COG5-congenital disorder of glycosylation


short stature-optic atrophy-Pelger-Huët anomaly syndrome


non-functioning pituitary gland neoplasm


progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1


osteosarcoma arising in bone Paget disease


acute motor and sensory axonal neuropathy


NAT8B_HUMAN N-acetyltransferase 8B (sprot)


steroid-responsive encephalopathy associated with autoimmune thyroiditis


combined hamartoma of the retina and retinal pigment epithelium


congenital anomaly of cardiovascular system


SRRM3_HUMAN Serine/arginine repetitive matrix protein 3 (sprot)


TRAC_HUMAN T cell receptor alpha chain constant (sprot)


autoimmune lymphoproliferative syndrome type 2B


blepharophimosis - intellectual disability syndrome, Ohdo type


hypereosinophilia of undetermined significance


primary cutaneous marginal zone B-cell lymphoma


classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency


normophosphatemic familial tumoral calcinosis


Anti-mesothelin antibody-drug conjugate BAY 94-9343


undifferentiated carcinoma of nasopharynx


autosomal recessive hypohidrotic ectodermal dysplasia


congenital thrombotic thrombocytopenic purpura


DPAGT1-congenital disorder of glycosylation


ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3


generalized epilepsy with febrile seizures plus


neuroendocrine secretory protein 55 isoform Nesp55 (human)


GCYB2_HUMAN Guanylate cyclase soluble subunit beta-2 (sprot)


acute myeloid leukemia with t(8;16)(p11;p13) translocation


craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome


generalized resistance to thyroid hormone


HCP5_HUMAN HLA class I histocompatibility antigen protein P5 (sprot)


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


arteritic anterior ischemic optic neuropathy


congenital dyserythropoietic anemia type 2


COG7-congenital disorder of glycosylation


supratentorial primitive neuroectodermal tumor


autosomal recessive nonsyndromic hearing loss 101


malignant migrating partial seizures of infancy


neuroendocrine cell hyperplasia of infancy


central nervous system anaplastic large cell lymphoma


autosomal dominant deafness - onychodystrophy syndrome


thiamine-responsive megaloblastic anemia syndrome


hantavirus hemorrhagic fever with renal syndrome


X-linked hydrocephalus with stenosis of the aqueduct of Sylvius


congenital erosive and vesicular dermatosis


high-grade neuroendocrine carcinoma of the cervix uteri


FNTB_HUMAN Protein farnesyltransferase subunit beta (sprot)


partial deletion of the short arm of chromosome 1


Abnormal cardiovascular system morphology


NXF5_HUMAN Nuclear RNA export factor 5 (sprot)


non-acquired combined pituitary hormone deficiency


congenital short bowel syndrome, autosomal recessive


autosomal recessive nonsyndromic hearing loss 4


megalencephalic leukoencephalopathy with subcortical cysts 1


late infantile neuronal ceroid lipofuscinosis


hyperammonemia due to N-acetylglutamate synthase deficiency


hereditary sensory and autonomic neuropathy type 1


multiple sclerosis, susceptibility to, 4


autosomal recessive nonsyndromic hearing loss 21


acute posterior multifocal placoid pigment epitheliopathy


primary intraosseous venous malformation


LATH_HUMAN Putative BPIFA4P protein (sprot)


digestive system mixed adenoneuroendocrine carcinoma


calcitonin gene-related peptide 1 (human)


SAC31_HUMAN SAC3 domain-containing protein 1 (sprot)


autosomal dominant nonsyndromic hearing loss


anti-glomerular basement membrane disease


maternal uniparental disomy of chromosome 4


autosomal recessive limb-girdle muscular dystrophy


glycogen storage disorder due to hepatic glycogen synthase deficiency


goiter, multinodular 1, with or without Sertoli-Leydig cell tumors


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


Charcot-Marie-Tooth disease axonal type 2C


neonatal severe primary hyperparathyroidism


cerebellar atrophy, developmental delay, and seizures


PPARG-related familial partial lipodystrophy


benign adult familial myoclonic epilepsy


tubulointerstitial nephritis and uveitis syndrome


CF218_HUMAN Putative uncharacterized protein encoded by LINC00518 (sprot)


leukoencephalopathy with calcifications and cysts


ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome


extragonadal nonseminomatous germ cell tumor


Covid-19 Coronavirus Artificial Antigen Presenting Cell Vaccine


inherited bleeding disorder, platelet-type


GOR_HUMAN Putative exonuclease GOR (sprot)


circadian rhythm sleep disorder, jet lag type


autosomal dominant progressive external ophthalmoplegia


PRY_HUMAN PTPN13-like protein, Y-linked (sprot)


congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome


STING-associated vasculopathy with onset in infancy


multiple mitochondrial dysfunctions syndrome 1


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


IGHD_HUMAN Immunoglobulin heavy constant delta (sprot)


acute myeloid leukemia with mutated NPM1


maternal uniparental disomy of chromosome 14


progeria-short stature-pigmented nevi syndrome


monocytopenia with susceptibility to infections


autosomal recessive nonsyndromic hearing loss 16


autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive


monoclonal mast cell activation syndrome


HBA_HUMAN Hemoglobin subunit alpha (sprot)


neonatal intrahepatic cholestasis due to citrin deficiency


cyclin-dependent kinase inhibitor 2A isoform h5 (human)


muscular dystrophy, limb-girdle, autosomal dominant


autosomal recessive spinocerebellar ataxia 12


idiopathic steroid-sensitive nephrotic syndrome


spondylometaphyseal dysplasia-cone-rod dystrophy syndrome


UBP11_HUMAN Ubiquitin carboxyl-terminal hydrolase 11 (sprot)


multiple sclerosis, susceptibility to, 2


autoimmune disease, susceptibility to, 2


chronic myelogenous leukemia, BCR-ABL1 positive


hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism


hyperimmunoglobulinemia D with periodic fever


Hermansky-Pudlak syndrome with pulmonary fibrosis


pigmented paravenous retinochoroidal atrophy


U17LO_HUMAN Ubiquitin carboxyl-terminal hydrolase 17-like protein 24 (sprot)


46,XX ovotesticular disorder of sex development


nasal cavity and paranasal sinus carcinoma


sarcomatoid squamous cell skin carcinoma


microcephaly, seizures, and developmental delay


punctate palmoplantar keratoderma type III


transient hypogammaglobulinemia of infancy


subepithelial mucinous corneal dystrophy


mixed lobular and ductal breast carcinoma


autosomal recessive primary microcephaly


vitamin K deficiency hemorrhagic disease


ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia


sterile multifocal osteomyelitis with periostitis and pustulosis


CGB3_HUMAN Choriogonadotropin subunit beta 3 (sprot)


autosomal dominant intermediate Charcot-Marie-Tooth disease


MAGA2_HUMAN Melanoma-associated antigen 2 (sprot)


autoimmune disorder of the nervous system


megaconial type congenital muscular dystrophy


neuronopathy, distal hereditary motor, autosomal dominant


ALG2-congenital disorder of glycosylation


X-linked syndromic intellectual disability


light and heavy chain deposition disease


neonatal ichthyosis-sclerosing cholangitis syndrome


facioscapulohumeral muscular dystrophy 1


pulmonary type ovarian small cell carcinoma


helicoid peripapillary chorioretinal degeneration


methicillin-resistant staphylococcus aureus infectious disease


epilepsy, partial, with pericentral spikes


circadian rhythm sleep disorder, advanced sleep phase type


intellectual disability-sparse hair-brachydactyly syndrome


MIT family translocation renal cell carcinoma


mesoaxial synostotic syndactyly with phalangeal reduction


systemic primary carnitine deficiency disease


congenital nephrotic syndrome, Finnish type


tenosynovial giant cell tumor, localized type


familial hemophagocytic lymphohistiocytosis type 1


pulmonary large cell neuroendocrine carcinoma


myelodysplastic syndrome with ring sideroblasts


combined malonic and methylmalonic acidemia


gallbladder small cell neuroendocrine carcinoma


gastric small cell neuroendocrine carcinoma


microcephalic primordial dwarfism, Alazami type


clear cell papillary renal cell carcinoma


severe early-childhood-onset retinal dystrophy


idiopathic macular telangiectasia type 1


combined immunodeficiency due to CD3gamma deficiency


ankyloblepharon-ectodermal defects-cleft lip/palate syndrome


APRG1_HUMAN APRG1 tumor suppressor candidate (sprot)


Charcot-Marie-Tooth disease dominant intermediate C


FXL21_HUMAN Putative F-box/LRR-repeat protein 21 (sprot)


myasthenia gravis with thymus hyperplasia


autoimmune disease, susceptibility to, 4


pancreatic intraductal papillary-mucinous neoplasm


CMAH_HUMAN Inactive cytidine monophosphate-N-acetylneuraminic acid hydroxylase (sprot)


distal myopathy with anterior tibial onset


familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis


IGHA1_HUMAN Immunoglobulin heavy constant alpha 1 (sprot)


malignant Sertoli-Leydig cell tumor of ovary


MCHL1_HUMAN Putative pro-MCH-like protein 1 (sprot)


mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations


U2AFL_HUMAN U2 small nuclear ribonucleoprotein auxiliary factor 35 kDa subunit-related protein 1 (sprot)


pyruvate dehydrogenase E3-binding protein deficiency


IG2AS_HUMAN Putative insulin-like growth factor 2 antisense gene protein (sprot)


aniridia-cerebellar ataxia-intellectual disability syndrome


VCY2_HUMAN Testis-specific basic protein Y 2 (sprot)


myalgic encephalomeyelitis/chronic fatigue syndrome


DNA-directed RNA polymerase II subunit GRINL1A isoform 6 (human)


chronic atrial and intestinal dysrhythmia


small intestine neuroendocrine tumor, well differentiated, low or intermediate grade


TAAR3_HUMAN Putative trace amine-associated receptor 3 (sprot)


metastatic malignant neoplasm in the eye


cardiomyopathy, familial hypertrophic 27


ALG8-congenital disorder of glycosylation


selective pituitary resistance to thyroid hormone


malignant adrenal gland pheochromocytoma


autosomal dominant rhegmatogenous retinal detachment


self-limited epilepsy with autonomic seizures


MOGS-congenital disorder of glycosylation


permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome


medulloblastoma with extensive nodularity


Cushing syndrome due to macronodular adrenal hyperplasia


autoimmune encephalopathy with parasomnia and obstructive sleep apnea


dystrophic epidermolysis bullosa pruriginosa


immunodeficiency-centromeric instability-facial anomalies syndrome


chondrodysplasia with joint dislocations, gPAPP type


congenital muscular dystrophy due to LMNA mutation


capillary malformation-arteriovenous malformation syndrome


agenesis of the corpus callosum with peripheral neuropathy


hereditary thrombophilia due to congenital protein C deficiency


frontotemporal dementia and/or amyotrophic lateral sclerosis 1


neuropathy, hereditary sensory and autonomic, type 2A


lung combined large cell neuroendocrine carcinoma


hypertelorism-preauricular sinus-punctual pits-deafness syndrome


ENK6_HUMAN Endogenous retrovirus group K member 6 Env polyprotein (sprot)


acute myeloid leukemia with 11q23 abnormalities


pyruvate dehydrogenase E1-alpha deficiency


aromatic L-amino acid decarboxylase deficiency


autosomal recessive nonsyndromic hearing loss 7


facial dysmorphism-immunodeficiency-livedo-short stature syndrome


hearing loss, mixed conductive-sensorineural


SG11B_HUMAN Sperm-associated antigen 11B (sprot)


metabolic dysfunction-associated steatotic liver disease


thyroid gland diffuse large B-cell lymphoma


congenital disorder of glycosylation type II


isolated focal cortical dysplasia type II


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2


3-(4-HYDROXYPHENYL)-4,5-DIHYDRO-5-ISOXAZOLE-ACETIC ACID METHYL ESTER


multiple self-healing squamous epithelioma


autosomal recessive congenital ichthyosis


spondyloepimetaphyseal dysplasia, sponastrime type


autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)


persistent hyperplastic primary vitreous


major salivary gland mucoepidermoid carcinoma


hereditary angioedema with C1Inh deficiency


interstitial lung disease specific to childhood


Charcot-Marie-Tooth disease axonal type 2P


continuous spikes and waves during sleep


juvenile amyotrophic lateral sclerosis with dementia


hereditary cryohydrocytosis with reduced stomatin


autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency


cortical dysplasia-focal epilepsy syndrome


short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome


non-classic congenital adrenal hyperplasia


branched-chain keto acid dehydrogenase kinase deficiency


RM45_HUMAN Large ribosomal subunit protein mL45 (sprot)


Crouzon syndrome-acanthosis nigricans syndrome


autosomal recessive nonsyndromic hearing loss 77


PMF1_HUMAN Polyamine-modulated factor 1 (sprot)


autoimmune disorder of peripheral nervous system


urinary bladder small cell neuroendocrine carcinoma


GALT4_HUMAN Polypeptide N-acetylgalactosaminyltransferase 4 (sprot)


autosomal recessive congenital ichthyosis 2


glycogen storage disease type 1 due to SLC37A4 mutation


mucoepidermoid carcinoma of parotid gland


infantile neuronal ceroid lipofuscinosis


X-linked distal spinal muscular atrophy type 3


HSFY1_HUMAN Heat shock transcription factor, Y-linked (sprot)


MAGD4_HUMAN Melanoma-associated antigen D4 (sprot)


mandibuloacral dysplasia with type B lipodystrophy


Alagille syndrome due to a JAG1 point mutation


Ehlers-Danlos syndrome, musculocontractural type


gaze palsy, familial horizontal, with progressive scoliosis 1


myopathy, lactic acidosis, and sideroblastic anemia 2


secondary progressive multiple sclerosis


Epstein-Barr virus-associated lymphoproliferative disorder


lissencephaly with cerebellar hypoplasia type A


autosomal dominant nonsyndromic hearing loss 10


multiple cutaneous and mucosal venous malformations


autosomal dominant auditory neuropathy 1


T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency


Yersinia pseudotuberculosis infectious disease


spinocerebellar ataxia, autosomal recessive, with axonal neuropathy


punctate palmoplantar keratoderma type 1


homocystinuria without methylmalonic aciduria


CES1P_HUMAN Putative inactive carboxylesterase 4 (sprot)


multiple sclerosis, susceptibility to, 3


muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4


autosomal dominant nonsyndromic hearing loss 44


gnb5-related intellectual disability-cardiac arrhythmia syndrome


nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome


primary cutaneous peripheral T-cell lymphoma not otherwise specified


colorectal diffuse large B-cell lymphoma


autoimmune lymphoproliferative syndrome type 2A


Bcl-2-binding component 3 isoform 2 (human)


primary cutaneous diffuse large B-cell lymphoma, Leg type


long chain acyl-CoA dehydrogenase deficiency


congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency


progressive encephalomyelitis with rigidity and myoclonus


KRIP1_HUMAN Putative protein KRIP1 (sprot)


growth delay due to insulin-like growth factor type 1 deficiency


autosomal recessive nonsyndromic hearing loss 49


reversible cerebral vasoconstriction syndrome


LUZP6_HUMAN Leucine zipper protein 6 (sprot)


thrombocytopenia due to immune destruction


LCN9_HUMAN Epididymal-specific lipocalin-9 (sprot)


catecholaminergic polymorphic ventricular tachycardia 2


Charcot-Marie-Tooth disease X-linked recessive 4


arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome


LMNA-related cardiocutaneous progeria syndrome


familial acute necrotizing encephalopathy


porcine reproductive and respiratory syndrome


progressive bifocal chorioretinal atrophy


autosomal dominant epilepsy with auditory features


peroxisome biogenesis disorder 1A (Zellweger)


inborn disorder of amino acid metabolism


acute encephalopathy with biphasic seizures and late reduced diffusion


testicular non-seminomatous germ cell tumor


squamous cell carcinoma of the corpus uteri


neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade


punctate palmoplantar keratoderma type 2


macular dystrophy with central cone involvement


parietal foramina with cleidocranial dysplasia


maturity-onset diabetes of the young type 1


thyroid gland mucosa-associated lymphoid tissue lymphoma


ACHA7_HUMAN Neuronal acetylcholine receptor subunit alpha-7 (sprot)


sporadic adult-onset ataxia of unknown etiology


TEX15_HUMAN Testis-expressed protein 15 (sprot)


X-linked myopathy with postural muscle atrophy


Shiga toxin-associated hemolytic uremic syndrome


fragile X-associated tremor/ataxia syndrome


autosomal recessive polycystic kidney disease


fetal and neonatal alloimmune thrombocytopenia


acute myeloid leukemia by FAB classification


congenital disorder of glycosylation type 1E


autosomal recessive nonsyndromic hearing loss 15


alveolar capillary dysplasia with misalignment of pulmonary veins


developmental and epileptic encephalopathy, 9


autosomal dominant spondylocostal dysostosis


SIK1_HUMAN Serine/threonine-protein kinase SIK1 (sprot)


indolent primary cutaneous B-cell lymphoma


estrogen-receptor negative breast cancer


medium chain acyl-CoA dehydrogenase deficiency


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


hereditary pulmonary alveolar proteinosis


ST20_HUMAN Suppressor of tumorigenicity 20 protein (sprot)


partial deletion of the long arm of chromosome 11


myelodysplastic syndrome with multilineage dysplasia


sickle cell-beta-thalassemia disease syndrome


DSCR9_HUMAN Down syndrome critical region protein 9 (sprot)


EC 3.5.1.98 (histone deacetylase) inhibitor


nicotinic acetylcholine receptor agonist


glucagon-like peptide-1 receptor agonist


yellow fever virus strain 17D-204 live antigen


Recombinant human alpha 1-antitrypsin (raat)


Allogenic bone marrow-derived mesenchymal stem cells


antihemophilic factor (recombinant) pegylated


coagulation factor IX (recombinant), glycopegylated


Meningococcal polysaccharide vaccine group A


O-raffinose cross-linked human hemoglobin


Bacillus calmette-guerin substrain danish 1331 live antigen


parathyroid hormone-related peptide (1-36)


obsolete disorder of genitourinary system