Ectodermal Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Ectodermal dysplasia is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. (Human Phenotype Ontology, HP_0000968)
External Link https://www.disgenet.org/browser/0/1/0/C1720965
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Genes

86 genes associated with the disease Ectodermal Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACACA acetyl-CoA carboxylase alpha
ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7
ASCC1 activating signal cointegrator 1 complex subunit 1
AXIN2 axin 2
BMS1 BMS1 ribosome biogenesis factor
CALM1 calmodulin 1 (phosphorylase kinase, delta)
CALM2 calmodulin 2 (phosphorylase kinase, delta)
CALM3 calmodulin 3 (phosphorylase kinase, delta)
CAMKMT calmodulin-lysine N-methyltransferase
CD38 CD38 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CDC42 cell division cycle 42
CDH3 cadherin 3, type 1, P-cadherin (placental)
CHUK conserved helix-loop-helix ubiquitous kinase
CKAP4 cytoskeleton-associated protein 4
CLPB ClpB homolog, mitochondrial AAA ATPase chaperonin
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYBB cytochrome b-245, beta polypeptide
DHX40 DEAH (Asp-Glu-Ala-His) box polypeptide 40
DLX3 distal-less homeobox 3
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DSP desmoplakin
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EGF epidermal growth factor
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FN1 fibronectin 1
FNDC3A fibronectin type III domain containing 3A
FOXI2 forkhead box I2
GCA grancalcin, EF-hand calcium binding protein
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
HOXC13 homeobox C13
IFNG interferon, gamma
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
ITCH itchy E3 ubiquitin protein ligase
ITGB4 integrin, beta 4
JAG2 jagged 2
KDF1 keratinocyte differentiation factor 1
KLF4 Kruppel-like factor 4 (gut)
KREMEN1 kringle containing transmembrane protein 1
KRIT1 KRIT1, ankyrin repeat containing
KRT14 keratin 14, type I
KRT19 keratin 19, type I
KRT74 keratin 74, type II
KRT85 keratin 85, type II
LYZ lysozyme
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MBTPS2 membrane-bound transcription factor peptidase, site 2
NCF1 neutrophil cytosolic factor 1
NECTIN1 nectin cell adhesion molecule 1
NECTIN4 nectin cell adhesion molecule 4
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NLRP1 NLR family, pyrin domain containing 1
NR2C2 nuclear receptor subfamily 2, group C, member 2
ODC1 ornithine decarboxylase 1
ORAI1 ORAI calcium release-activated calcium modulator 1
PAX9 paired box 9
PERP PERP, TP53 apoptosis effector
PKP1 plakophilin 1
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RHOA ras homolog family member A
RPE65 retinal pigment epithelium-specific protein 65kDa
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SNAI1 snail family zinc finger 1
STIM1 stromal interaction molecule 1
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TNF tumor necrosis factor
TP63 tumor protein p63
TRAF3 TNF receptor-associated factor 3
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TSPEAR thrombospondin-type laminin G domain and EAR repeats
TWIST2 twist family bHLH transcription factor 2
UVRAG UV radiation resistance associated
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WNT10A wingless-type MMTV integration site family, member 10A