hypohidrotic ectodermal dysplasia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A monogenic disease that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). (Human Disease Ontology, DOID_14793)
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Genes

45 genes co-occuring with the disease hypohidrotic ectodermal dysplasia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
EDARADD EDAR-associated death domain 2.93936
EDA ectodysplasin A 2.73624
EDAR ectodysplasin A receptor 2.01477
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma 1.81284
EDA2R ectodysplasin A2 receptor 1.74369
WNT10A wingless-type MMTV integration site family, member 10A 1.21782
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase 1.16863
PAX9 paired box 9 1.10931
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2 1.0627
BACE1 beta-site APP-cleaving enzyme 1 0.994439
FURIN furin (paired basic amino acid cleaving enzyme) 0.952856
TNFRSF19 tumor necrosis factor receptor superfamily, member 19 0.935799
AXIN2 axin 2 0.922974
MSX1 msh homeobox 1 0.90321
TNF tumor necrosis factor 0.890488
SOSTDC1 sclerostin domain containing 1 0.853221
UNG uracil-DNA glycosylase 0.771661
DKK4 dickkopf WNT signaling pathway inhibitor 4 0.714811
PKP1 plakophilin 1 0.695504
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta 0.652089
SHH sonic hedgehog 0.639463
TSN translin 0.62728
ICOSLG inducible T-cell co-stimulator ligand 0.610057
PTCH2 patched 2 0.604591
MBTPS2 membrane-bound transcription factor peptidase, site 2 0.60342
AICDA activation-induced cytidine deaminase 0.581217
SGOL1 shugoshin-like 1 (S. pombe) 0.573439
PGK1 phosphoglycerate kinase 1 0.542379
APPL1 adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 0.516494
FRS2 fibroblast growth factor receptor substrate 2 0.509959
MYL2 myosin, light chain 2, regulatory, cardiac, slow 0.459751
ATP7A ATPase, Cu++ transporting, alpha polypeptide 0.42739
RIPK1 receptor (TNFRSF)-interacting serine-threonine kinase 1 0.358183
CD40LG CD40 ligand 0.346777
RELB v-rel avian reticuloendotheliosis viral oncogene homolog B 0.340906
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A 0.273664
AMBP alpha-1-microglobulin/bikunin precursor 0.267622
CXCL11 chemokine (C-X-C motif) ligand 11 0.261245
FGF1 fibroblast growth factor 1 (acidic) 0.245747
STS steroid sulfatase (microsomal), isozyme S 0.235964
GOLPH3 golgi phosphoprotein 3 (coat-protein) 0.222822
HLA-C major histocompatibility complex, class I, C 0.222479
BIRC2 baculoviral IAP repeat containing 2 0.222136
HEXB hexosaminidase B (beta polypeptide) 0.220766
SH2D1A SH2 domain containing 1A 0.173571