Genetic Diseases, Inborn Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Similar Terms
Downloads & Tools

Genes

88 genes associated with the Genetic Diseases, Inborn phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ANOS1 anosmin 1
APOE apolipoprotein E
ASPA aspartoacylase
BLM Bloom syndrome, RecQ helicase-like
BRCA1 breast cancer 1, early onset
C6ORF10 chromosome 6 open reading frame 10
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CAPN10 calpain 10
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DLK1 delta-like 1 homolog (Drosophila)
EDNRA endothelin receptor type A
EFNA4 ephrin-A4
EFNB1 ephrin-B1
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EPHA2 EPH receptor A2
ERCC8 excision repair cross-complementation group 8
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
F9 coagulation factor IX
FAM20C family with sequence similarity 20, member C
FANCC Fanconi anemia, complementation group C
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR1 fibroblast growth factor receptor 1
FGFR3 fibroblast growth factor receptor 3
GBA glucosidase, beta, acid
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GNRHR gonadotropin-releasing hormone receptor
HDC histidine decarboxylase
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-C major histocompatibility complex, class I, C
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
ICAM1 intercellular adhesion molecule 1
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
IL12RB2 interleukin 12 receptor, beta 2
IL1RN interleukin 1 receptor antagonist
IRF6 interferon regulatory factor 6
JAK2 Janus kinase 2
KISS1R KISS1 receptor
LAMA1 laminin, alpha 1
LMX1B LIM homeobox transcription factor 1, beta
LPA lipoprotein, Lp(a)
LRP2 low density lipoprotein receptor-related protein 2
LTA lymphotoxin alpha
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MCOLN1 mucolipin 1
MRAP melanocortin 2 receptor accessory protein
MT-TK tRNA
MT-TL1 tRNA
MT-TL2 tRNA
MT-TV tRNA
MUC5B mucin 5B, oligomeric mucus/gel-forming
MYP11 myopia 11 (high grade, autosomal dominant)
MYP2 myopia 2 (high grade, autosomal dominant)
NAT2 N-acetyltransferase 2 (arylamine N-acetyltransferase)
NGFR nerve growth factor receptor
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NOS2 nitric oxide synthase 2, inducible
NPR3 natriuretic peptide receptor 3
NRG1 neuregulin 1
PDGFD platelet derived growth factor D
PRCP prolylcarboxypeptidase (angiotensinase C)
PRDM9 PR domain containing 9
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
SCN5A sodium channel, voltage gated, type V alpha subunit
SELE selectin E
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
TAC3 tachykinin 3
TACR3 tachykinin receptor 3
TAS2R38 taste receptor, type 2, member 38
TBXAS1 thromboxane A synthase 1 (platelet)
TNF tumor necrosis factor
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TNFSF14 tumor necrosis factor (ligand) superfamily, member 14
TNNI3 troponin I type 3 (cardiac)
TP53 tumor protein p53
TWIST1 twist family bHLH transcription factor 1