Christ-Siemens-Touraine Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0162359
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Genes

43 genes associated with the disease Christ-Siemens-Touraine Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACACA acetyl-CoA carboxylase alpha
BMS1 BMS1 ribosome biogenesis factor
CD38 CD38 molecule
CDC42 cell division cycle 42
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCR4 chemokine (C-X-C motif) receptor 4
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EFNB1 ephrin-B1
EGFR epidermal growth factor receptor
ELANE elastase, neutrophil expressed
FAS Fas cell surface death receptor
FN1 fibronectin 1
G6PD glucose-6-phosphate dehydrogenase
GFI1 growth factor independent 1 transcription repressor
GH1 growth hormone 1
GJB6 gap junction protein, beta 6, 30kDa
GOLPH3 golgi phosphoprotein 3 (coat-protein)
HAND2 heart and neural crest derivatives expressed 2
IFNG interferon, gamma
IFNGR1 interferon gamma receptor 1
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
KDF1 keratinocyte differentiation factor 1
KRT19 keratin 19, type I
LEF1 lymphoid enhancer-binding factor 1
LTB lymphotoxin beta (TNF superfamily, member 3)
MADCAM1 mucosal vascular addressin cell adhesion molecule 1
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NR4A3 nuclear receptor subfamily 4, group A, member 3
ORAI1 ORAI calcium release-activated calcium modulator 1
PGK1 phosphoglycerate kinase 1
PKP1 plakophilin 1
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
STAT1 signal transducer and activator of transcription 1, 91kDa
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TNF tumor necrosis factor
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
WNT10A wingless-type MMTV integration site family, member 10A