Source: ALL

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C4551486
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 		disease 0.300 strong 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C2931577
Disease: Basaran Yilmaz syndrome
Basaran Yilmaz syndrome 		disease 0.300 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C1389016
Disease: ATRIOVENTRICULAR CANAL DEFECT
ATRIOVENTRICULAR CANAL DEFECT 		disease 0.300 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C1389018
Disease: Atrioventricular Septal Defect
Atrioventricular Septal Defect 		disease 0.300 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C1865014
Disease: Long philtrum
Long philtrum 		phenotype 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		phenotype 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C4020952
Disease: Fingernail dysplasia
Fingernail dysplasia 		disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0265610
Disease: Clinodactyly of fingers
Clinodactyly of fingers 		disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C4021020
Disease: Non-midline cleft lip
Non-midline cleft lip 		disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0265881
Disease: Congenital hypoplasia of aortic arch
Congenital hypoplasia of aortic arch 		disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C4021254
Disease: Cutaneous finger syndactyly
Cutaneous finger syndactyly 		disease 0.100 None 0 1
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0020678
Disease: Hypotrichosis
Hypotrichosis 		disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0263490
Disease: Brittle hair
Brittle hair 		disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C1865702
Disease: Joint contracture of the 5th finger
Joint contracture of the 5th finger 		disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C1868085
Disease: Craniofacial hyperostosis
Craniofacial hyperostosis 		phenotype 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		phenotype 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0024636
Disease: Malocclusion
Malocclusion 		disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0239234
Disease: Low set ears
Low set ears 		disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0239676
Disease: High forehead
High forehead 		phenotype 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0240182
Disease: Leukonychia
Leukonychia 		phenotype 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C0240340
Disease: Microdontia (disorder)
Microdontia (disorder) 		disease 0.100 None 0 0
Entrez Id: 2697
Gene Symbol: GJA1
GJA1 		gap junction protein alpha 1 0.393 0.885 0.16
CUI: C1865992
Disease: Short hallux
Short hallux 		phenotype 0.100 None 0 0