Source: ORPHANET

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: 1749
Gene Symbol: DLX5
DLX5 		distal-less homeobox 5 0.604 0.692 0.22
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		disease 0.530 None 1.000 1 0 2002 2014
Entrez Id: 1750
Gene Symbol: DLX6
DLX6 		distal-less homeobox 6 0.659 0.615 0.92
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		disease 0.520 None 1.000 1 0 2002 2017
Entrez Id: 8626
Gene Symbol: TP63
TP63 		tumor protein p63 0.362 0.769 1.00
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		disease 0.500 None 1.000 1 0 2000 2019
Entrez Id: 7979
Gene Symbol: SEM1
SEM1 		SEM1 26S proteasome complex subunit 0.633 0.538 1.8E-02
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		disease 0.340 None 1.000 1 0 1994 2012
Entrez Id: 7480
Gene Symbol: WNT10B
WNT10B 		Wnt family member 10B 0.576 0.654 3.6E-04
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		disease 0.300 None 1.000 2 0 2008 2010
Entrez Id: 8945
Gene Symbol: BTRC
BTRC 		beta-transducin repeat containing E3 ubiquitin protein ligase 0.601 0.731 1.2E-02
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		disease 0.300 None 1.000 2 0 2006 2013
Entrez Id: 58513
Gene Symbol: EPS15L1
EPS15L1 		epidermal growth factor receptor pathway substrate 15 like 1 0.743 0.385 1.00
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		disease 0.300 None 1.000 1 0 2018 2018