EDA, ectodysplasin A, 1896

N. diseases: 150; N. variants: 83
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs132630319
rs132630319
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs132630319
rs132630319
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs132630321
rs132630321
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs132630321
rs132630321
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs879255551
rs879255551
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs879255552
rs879255552
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		T 0.800 CausalMutation CLINVAR
dbSNP: rs879255611
rs879255611
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1970757
Disease:
Tooth Agenesis, Selective, X-Linked, 1 		A 0.800 CausalMutation CLINVAR
dbSNP: rs132630317
rs132630317
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		A 0.710 CausalMutation CLINVAR
dbSNP: rs1057520742
rs1057520742
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1064793105
rs1064793105
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		0.700 GeneticVariation UNIPROT
dbSNP: rs1131692034
rs1131692034
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0266037
Disease:
Peg-shaped teeth 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692034
rs1131692034
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1844606
Disease:
Periorbital hyperpigmentation 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692034
rs1131692034
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0020608
Disease:
Hypodontia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692034
rs1131692034
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1836542
Disease:
Depressed nasal bridge 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692034
rs1131692034
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0263490
Disease:
Brittle hair 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692034
rs1131692034
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692034
rs1131692034
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0553721
Disease:
Diminished sweating 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692034
rs1131692034
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1706004
Disease:
Anhydrotic Ectodermal Dysplasias 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692034
rs1131692034
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0221354
Disease:
Frontal bossing 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692034
rs1131692034
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0423757
Disease:
Thin skin 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692034
rs1131692034
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C4282407
Disease:
Sparse and thin eyebrow 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692034
rs1131692034
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C4721530
Disease:
Congenital hypotrichia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692034
rs1131692034
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0151908
Disease:
Dry skin 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1131692034
rs1131692034
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C1843300
Disease:
Sparse eyelashes 		A 0.700 CausalMutation CLINVAR
dbSNP: rs132630308
rs132630308
Entrez Id: 1896
Gene Symbol: EDA
EDA
CUI: C0162359
Disease:
Christ-Siemens-Touraine syndrome 		C 0.700 CausalMutation CLINVAR