CCL27_HUMAN C-C motif chemokine 27 (sprot)


GBRR3_HUMAN Gamma-aminobutyric acid receptor subunit rho-3 (sprot)


CSPP1_HUMAN Centrosome and spindle pole-associated protein 1 (sprot)


IL2RB_HUMAN Interleukin-2 receptor subunit beta (sprot)


EVC_HUMAN EvC complex member EVC (sprot)


S3TC2_HUMAN SH3 domain and tetratricopeptide repeat-containing protein 2 (sprot)


sporadic adult-onset ataxia of unknown etiology


TEX15_HUMAN Testis-expressed protein 15 (sprot)


C2CD3_HUMAN C2 domain-containing protein 3 (sprot)


EXOS1_HUMAN Exosome complex component CSL4 (sprot)


MBD5_HUMAN Methyl-CpG-binding domain protein 5 (sprot)


PHF11_HUMAN PHD finger protein 11 (sprot)


MFD4A_HUMAN Major facilitator superfamily domain-containing protein 4A (sprot)


NCOA3_HUMAN Nuclear receptor coactivator 3 (sprot)


RGR_HUMAN RPE-retinal G protein-coupled receptor (sprot)


IP3KA_HUMAN Inositol-trisphosphate 3-kinase A (sprot)


DUX4_HUMAN Double homeobox protein 4 (sprot)


asparaginase erwinia chrysanthemi, recombinant-rywn


SCAR3_HUMAN Scavenger receptor class A member 3 (sprot)


GDF9_HUMAN Growth/differentiation factor 9 (sprot)


AHR_HUMAN Aryl hydrocarbon receptor (sprot)


PS1C2_HUMAN Psoriasis susceptibility 1 candidate gene 2 protein (sprot)


LHX8_HUMAN LIM/homeobox protein Lhx8 (sprot)


IKBB_HUMAN NF-kappa-B inhibitor beta (sprot)


PRAM8_HUMAN PRAME family member 8 (sprot)


X-linked myopathy with postural muscle atrophy


CIC_HUMAN Protein capicua homolog (sprot)


PLPR2_HUMAN Phospholipid phosphatase-related protein type 2 (sprot)


NALD2_HUMAN N-acetylated-alpha-linked acidic dipeptidase 2 (sprot)


TPBG_HUMAN Trophoblast glycoprotein (sprot)


ACKR3_HUMAN Atypical chemokine receptor 3 (sprot)


fragile X-associated tremor/ataxia syndrome


autosomal recessive polycystic kidney disease


PTGIS_HUMAN Prostacyclin synthase (sprot)


COPA1_HUMAN Collagen alpha-1(XXV) chain (sprot)


fetal and neonatal alloimmune thrombocytopenia


STP2_HUMAN Nuclear transition protein 2 (sprot)


CD47_HUMAN Leukocyte surface antigen CD47 (sprot)


VGLU3_HUMAN Vesicular glutamate transporter 3 (sprot)


PRP19_HUMAN Pre-mRNA-processing factor 19 (sprot)


GTPB3_HUMAN tRNA modification GTPase GTPBP3, mitochondrial (sprot)


DYL2_HUMAN Dynein light chain 2, cytoplasmic (sprot)


ALG3_HUMAN Dol-P-Man:Man(5)GlcNAc(2)-PP-Dol alpha-1,3-mannosyltransferase (sprot)


GSH1_HUMAN Glutamate--cysteine ligase catalytic subunit (sprot)


GLIS2_HUMAN Zinc finger protein GLIS2 (sprot)


attention deficit hyperactivity disorder, inattentive type


ST65G_HUMAN STAGA complex 65 subunit gamma (sprot)


TM158_HUMAN Transmembrane protein 158 (sprot)


GLGB_HUMAN 1,4-alpha-glucan-branching enzyme (sprot)


CHD5_HUMAN Chromodomain-helicase-DNA-binding protein 5 (sprot)


acute myeloid leukemia by FAB classification


CTSR1_HUMAN Cation channel sperm-associated protein 1 (sprot)


HNF1B_HUMAN Hepatocyte nuclear factor 1-beta (sprot)


NSA2_HUMAN Ribosome biogenesis protein NSA2 homolog (sprot)


congenital disorder of glycosylation type 1E


autosomal recessive nonsyndromic hearing loss 15


GPX7_HUMAN Glutathione peroxidase 7 (sprot)


ARF3_HUMAN ADP-ribosylation factor 3 (sprot)


AKAP8_HUMAN A-kinase anchor protein 8 (sprot)


RT22_HUMAN 28S ribosomal protein S22, mitochondrial (sprot)


RU2B_HUMAN U2 small nuclear ribonucleoprotein B'' (sprot)


TBCD8_HUMAN TBC1 domain family member 8 (sprot)


MRM2_HUMAN rRNA methyltransferase 2, mitochondrial (sprot)


HXB13_HUMAN Homeobox protein Hox-B13 (sprot)


GPX6_HUMAN Glutathione peroxidase 6 (sprot)


alveolar capillary dysplasia with misalignment of pulmonary veins


CO6A6_HUMAN Collagen alpha-6(VI) chain (sprot)


developmental and epileptic encephalopathy, 9


DUS12_HUMAN Dual specificity protein phosphatase 12 (sprot)


LYPA1_HUMAN Acyl-protein thioesterase 1 (sprot)


S22A3_HUMAN Solute carrier family 22 member 3 (sprot)


ZC12B_HUMAN Probable ribonuclease ZC3H12B (sprot)


PAR3_HUMAN Proteinase-activated receptor 3 (sprot)


GPS2_HUMAN G protein pathway suppressor 2 (sprot)


PO3F3_HUMAN POU domain, class 3, transcription factor 3 (sprot)


MIA2_HUMAN Melanoma inhibitory activity protein 2 (sprot)


CEND_HUMAN Cell cycle exit and neuronal differentiation protein 1 (sprot)


FLVC1_HUMAN Feline leukemia virus subgroup C receptor-related protein 1 (sprot)


BN3D2_HUMAN RNA 5'-monophosphate methyltransferase (sprot)


NCAM2_HUMAN Neural cell adhesion molecule 2 (sprot)


HNRH3_HUMAN Heterogeneous nuclear ribonucleoprotein H3 (sprot)


PTPS_HUMAN 6-pyruvoyl tetrahydrobiopterin synthase (sprot)


BMF_HUMAN Bcl-2-modifying factor (sprot)


congenital myopathy with excess of thin filaments


PPARG_HUMAN Peroxisome proliferator-activated receptor gamma (sprot)


IP3KC_HUMAN Inositol-trisphosphate 3-kinase C (sprot)


DKK3_HUMAN Dickkopf-related protein 3 (sprot)


MASTR_HUMAN MEF2-activating motif and SAP domain-containing transcriptional regulator (sprot)


GTDC1_HUMAN Glycosyltransferase-like domain-containing protein 1 (sprot)


SRTD4_HUMAN SERTA domain-containing protein 4 (sprot)


RHOC_HUMAN Rho-related GTP-binding protein RhoC (sprot)


IMP1L_HUMAN Mitochondrial inner membrane protease subunit 1 (sprot)


STAU1_HUMAN Double-stranded RNA-binding protein Staufen homolog 1 (sprot)


LEGL_HUMAN Galectin-related protein (sprot)


RPF1_HUMAN Ribosome production factor 1 (sprot)


CDK9_HUMAN Cyclin-dependent kinase 9 (sprot)


ZPR1_HUMAN Zinc finger protein ZPR1 (sprot)


autosomal dominant spondylocostal dysostosis


GP1BA_HUMAN Platelet glycoprotein Ib alpha chain (sprot)


SIK1_HUMAN Serine/threonine-protein kinase SIK1 (sprot)


TMX3_HUMAN Protein disulfide-isomerase TMX3 (sprot)


ZBT20_HUMAN Zinc finger and BTB domain-containing protein 20 (sprot)


S26A8_HUMAN Testis anion transporter 1 (sprot)


V1AR_HUMAN Vasopressin V1a receptor (sprot)


EZH2_HUMAN Histone-lysine N-methyltransferase EZH2 (sprot)


indolent primary cutaneous B-cell lymphoma


DYDC2_HUMAN DPY30 domain-containing protein 2 (sprot)


AP2A_HUMAN Transcription factor AP-2-alpha (sprot)


R7BP_HUMAN Regulator of G-protein signaling 7-binding protein (sprot)


UD19_HUMAN UDP-glucuronosyltransferase 1A9 (sprot)


SAMD7_HUMAN Sterile alpha motif domain-containing protein 7 (sprot)


SP9_HUMAN Transcription factor Sp9 (sprot)


KAT2A_HUMAN Histone acetyltransferase KAT2A (sprot)


MINT_HUMAN Msx2-interacting protein (sprot)


SYLC_HUMAN Leucine--tRNA ligase, cytoplasmic (sprot)


INSL5_HUMAN Insulin-like peptide INSL5 (sprot)


SLIT3_HUMAN Slit homolog 3 protein (sprot)


CR3L2_HUMAN Cyclic AMP-responsive element-binding protein 3-like protein 2 (sprot)


GSTM4_HUMAN Glutathione S-transferase Mu 4 (sprot)


UBP21_HUMAN Ubiquitin carboxyl-terminal hydrolase 21 (sprot)


4,5-Heptadienoic acid, 7-(3-hydroxy-2-(3-hydroxy-4-phenoxy-1-butenyl)-5-oxocyclopentyl)-, methyl ester


KDM8_HUMAN Bifunctional peptidase and arginyl-hydroxylase JMJD5 (sprot)


FITM2_HUMAN Acyl-coenzyme A diphosphatase FITM2 (sprot)


PPR1B_HUMAN Protein phosphatase 1 regulatory subunit 1B (sprot)


ZDHC8_HUMAN Palmitoyltransferase ZDHHC8 (sprot)


estrogen-receptor negative breast cancer


GNL1_HUMAN Guanine nucleotide-binding protein-like 1 (sprot)


CALL5_HUMAN Calmodulin-like protein 5 (sprot)


FMO1_HUMAN Dimethylaniline monooxygenase [N-oxide-forming] 1 (sprot)


HACE1_HUMAN E3 ubiquitin-protein ligase HACE1 (sprot)


KCRM_HUMAN Creatine kinase M-type (sprot)


medium chain acyl-CoA dehydrogenase deficiency


S27A2_HUMAN Long-chain fatty acid transport protein 2 (sprot)


ZC3H3_HUMAN Zinc finger CCCH domain-containing protein 3 (sprot)


INSI1_HUMAN Insulin-induced gene 1 protein (sprot)


FERM1_HUMAN Fermitin family homolog 1 (sprot)


CK096_HUMAN Uncharacterized protein C11orf96 (sprot)


PRD15_HUMAN PR domain zinc finger protein 15 (sprot)


CNIH1_HUMAN Protein cornichon homolog 1 (sprot)


RSH6A_HUMAN Radial spoke head protein 6 homolog A (sprot)


A4GAT_HUMAN Lactosylceramide 4-alpha-galactosyltransferase (sprot)


RNF10_HUMAN RING finger protein 10 (sprot)


TTL12_HUMAN Tubulin--tyrosine ligase-like protein 12 (sprot)


SNP23_HUMAN Synaptosomal-associated protein 23 (sprot)


MMP15_HUMAN Matrix metalloproteinase-15 (sprot)


SMYD5_HUMAN Histone-lysine N-trimethyltransferase SMYD5 (sprot)


SCLT1_HUMAN Sodium channel and clathrin linker 1 (sprot)


PDLI1_HUMAN PDZ and LIM domain protein 1 (sprot)


ZNF32_HUMAN Zinc finger protein 32 (sprot)


PCDGI_HUMAN Protocadherin gamma-B6 (sprot)


SRA1_HUMAN Steroid receptor RNA activator 1 (sprot)


NOS1_HUMAN Nitric oxide synthase, brain (sprot)


Carbamic acid, N-[(1S)-1-[[[(1S)-1-formyl-2-(2-oxo-3-pyrrolidinyl)ethyl]amino]carbonyl]-3-methylbutyl]-, phenylmethyl ester


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


ELP4_HUMAN Elongator complex protein 4 (sprot)


UDB15_HUMAN UDP-glucuronosyltransferase 2B15 (sprot)


GBG2_HUMAN Guanine nucleotide-binding protein G(I)/G(S)/G(O) subunit gamma-2 (sprot)


ARAF_HUMAN Serine/threonine-protein kinase A-Raf (sprot)


AT8A1_HUMAN Phospholipid-transporting ATPase IA (sprot)


YBOX1_HUMAN Y-box-binding protein 1 (sprot)


SPAS1_HUMAN Spermatogenesis-associated serine-rich protein 1 (sprot)


GP135_HUMAN G-protein coupled receptor 135 (sprot)


hereditary pulmonary alveolar proteinosis


RAB3I_HUMAN Rab-3A-interacting protein (sprot)


M1IP1_HUMAN Mid1-interacting protein 1 (sprot)


ERVV1_HUMAN Endogenous retrovirus group V member 1 Env polyprotein (sprot)


ZEB1_HUMAN Zinc finger E-box-binding homeobox 1 (sprot)


RT12_HUMAN 28S ribosomal protein S12, mitochondrial (sprot)


MED19_HUMAN Mediator of RNA polymerase II transcription subunit 19 (sprot)


RASF9_HUMAN Ras association domain-containing protein 9 (sprot)


CRTC1_HUMAN CREB-regulated transcription coactivator 1 (sprot)


BGH3_HUMAN Transforming growth factor-beta-induced protein ig-h3 (sprot)


ST20_HUMAN Suppressor of tumorigenicity 20 protein (sprot)


KLH10_HUMAN Kelch-like protein 10 (sprot)


ARI1B_HUMAN AT-rich interactive domain-containing protein 1B (sprot)


TNIP1_HUMAN TNFAIP3-interacting protein 1 (sprot)


DNJC1_HUMAN DnaJ homolog subfamily C member 1 (sprot)


HMBX1_HUMAN Homeobox-containing protein 1 (sprot)


partial deletion of the long arm of chromosome 11


TREM2_HUMAN Triggering receptor expressed on myeloid cells 2 (sprot)


CALRL_HUMAN Calcitonin gene-related peptide type 1 receptor (sprot)


LY66D_HUMAN Lymphocyte antigen 6 complex locus protein G6d (sprot)


GCNT4_HUMAN Beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase 4 (sprot)


NSUN2_HUMAN RNA cytosine C(5)-methyltransferase NSUN2 (sprot)


COMD6_HUMAN COMM domain-containing protein 6 (sprot)


FUT6_HUMAN 4-galactosyl-N-acetylglucosaminide 3-alpha-L-fucosyltransferase FUT6 (sprot)


SPG17_HUMAN Sperm-associated antigen 17 (sprot)


ASB7_HUMAN Ankyrin repeat and SOCS box protein 7 (sprot)


PON2_HUMAN Serum paraoxonase/arylesterase 2 (sprot)


KAT2B_HUMAN Histone acetyltransferase KAT2B (sprot)


RASF5_HUMAN Ras association domain-containing protein 5 (sprot)


CHERP_HUMAN Calcium homeostasis endoplasmic reticulum protein (sprot)


COFA1_HUMAN Collagen alpha-1(XV) chain (sprot)


EFCB5_HUMAN EF-hand calcium-binding domain-containing protein 5 (sprot)


KKCC1_HUMAN Calcium/calmodulin-dependent protein kinase kinase 1 (sprot)


IMB1_HUMAN Importin subunit beta-1 (sprot)


myelodysplastic syndrome with multilineage dysplasia


OVOL1_HUMAN Putative transcription factor Ovo-like 1 (sprot)


sickle cell-beta-thalassemia disease syndrome


RDH14_HUMAN Retinol dehydrogenase 14 (sprot)


PA2GD_HUMAN Group IID secretory phospholipase A2 (sprot)


IFT20_HUMAN Intraflagellar transport protein 20 homolog (sprot)


DSCR9_HUMAN Down syndrome critical region protein 9 (sprot)


TPPC4_HUMAN Trafficking protein particle complex subunit 4 (sprot)


FABP7_HUMAN Fatty acid-binding protein, brain (sprot)


KIZ_HUMAN Centrosomal protein kizuna (sprot)


EIF1_HUMAN Eukaryotic translation initiation factor 1 (sprot)


APBP2_HUMAN Amyloid protein-binding protein 2 (sprot)


FMO2_HUMAN Flavin-containing monooxygenase 2 (sprot)


DAAF1_HUMAN Dynein axonemal assembly factor 1 (sprot)


VPS51_HUMAN Vacuolar protein sorting-associated protein 51 homolog (sprot)


hematopoietic and lymphoid system neoplasm


CP131_HUMAN Centrosomal protein of 131 kDa (sprot)


FUBP1_HUMAN Far upstream element-binding protein 1 (sprot)


Carbamic acid, (5-(2-deoxy-beta-D-erythro-pentofuranosyl)-1,4,5,6-tetrahydro-4-oxo-1,3,5-triazin-2-yl)-, heptyl ester


RDH16_HUMAN Retinol dehydrogenase 16 (sprot)


SPT13_HUMAN Spermatogenesis-associated protein 13 (sprot)


PLPR1_HUMAN Phospholipid phosphatase-related protein type 1 (sprot)


GGTL1_HUMAN Glutathione hydrolase light chain 1 (sprot)


PDE3B_HUMAN cGMP-inhibited 3',5'-cyclic phosphodiesterase 3B (sprot)


EHD4_HUMAN EH domain-containing protein 4 (sprot)


MAGC1_HUMAN Melanoma-associated antigen C1 (sprot)


FITM1_HUMAN Fat storage-inducing transmembrane protein 1 (sprot)


MED23_HUMAN Mediator of RNA polymerase II transcription subunit 23 (sprot)


S11IP_HUMAN Serine/threonine-protein kinase 11-interacting protein (sprot)


HMGX3_HUMAN HMG domain-containing protein 3 (sprot)


BATF3_HUMAN Basic leucine zipper transcriptional factor ATF-like 3 (sprot)


MICA1_HUMAN [F-actin]-monooxygenase MICAL1 (sprot)


STYL2_HUMAN Serine/threonine/tyrosine-interacting-like protein 2 (sprot)


NXNL1_HUMAN Nucleoredoxin-like protein 1 (sprot)


IF16_HUMAN Gamma-interferon-inducible protein 16 (sprot)