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: 1294
Gene Symbol: COL7A1
COL7A1 		collagen type VII alpha 1 chain 0.545 0.808 2.4E-40
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease 0.100 None 0 2
Entrez Id: 727857
Gene Symbol: BHLHA9
BHLHA9 		basic helix-loop-helix family member a9 0.644 0.269 0.30
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease 0.100 None 0 1
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B 		OTU deubiquitinase 6B 0.659 0.538 1.3E-07
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease 0.100 None 0 1
Entrez Id: 374654
Gene Symbol: KIF7
KIF7 		kinesin family member 7 0.528 0.731 2.3E-22
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		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: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease 0.100 None 0 1
Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2 		activator of transcription and developmental regulator AUTS2 0.569 0.846 1.00
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease 0.100 None 0 1
Entrez Id: 2121
Gene Symbol: EVC
EVC 		EvC ciliary complex subunit 1 0.587 0.577 3.5E-25
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		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: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease 0.100 None 0 1
Entrez Id: 1400
Gene Symbol: CRMP1
CRMP1 		collapsin response mediator protein 1 0.525 0.808 0.99
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease 0.100 None 0 1
Entrez Id: 1387
Gene Symbol: CREBBP
CREBBP 		CREB binding protein 0.428 0.808 1.00
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease 0.100 None 0 1
Entrez Id: 90381
Gene Symbol: TICRR
TICRR 		TOPBP1 interacting checkpoint and replication regulator 0.769 0.423 7.2E-14
CUI: C0265660
Disease: Syndactyly of the toes
Syndactyly of the toes 		disease 0.100 None 0 1