Source: CLINVAR

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: 100529211
Gene Symbol: TMEM256-PLSCR3
TMEM256-PLSCR3 		TMEM256-PLSCR3 readthrough (NMD candidate) 0.861 0.154 5.9E-03
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		disease 0.100 None 0 1
Entrez Id: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		disease 0.100 None 0 2
Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A 		dual specificity tyrosine phosphorylation regulated kinase 1A 0.533 0.769 1.00
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		disease 0.100 None 0 1
Entrez Id: 254863
Gene Symbol: TMEM256
TMEM256 		transmembrane protein 256 0.861 0.154 6.1E-04
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		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: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		disease 0.100 None 0 1
Entrez Id: 341640
Gene Symbol: FREM2
FREM2 		FRAS1 related extracellular matrix 2 0.566 0.577 3.6E-11
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		disease 0.100 None 0 1
Entrez Id: 4621
Gene Symbol: MYH3
MYH3 		myosin heavy chain 3 0.563 0.654 6.7E-21
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		disease 0.100 None 0 2
Entrez Id: 79641
Gene Symbol: ROGDI
ROGDI 		rogdi atypical leucine zipper 0.663 0.462 2.6E-09
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		disease 0.100 None 0 2