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: 2643
Gene Symbol: GCH1
GCH1 		GTP cyclohydrolase 1 0.511 0.846 0.90
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype 0.400 None 1.000 0 1 2007 2007
Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1 		presenilin 1 0.469 0.846 0.97
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype 0.120 None 1.000 1 1 2002 2014
Entrez Id: 2629
Gene Symbol: GBA
GBA 		glucosylceramidase beta 0.500 0.808 1.4E-06
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype 0.110 None 1.000 0 2 2010 2010
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3 		ASXL transcriptional regulator 3 0.590 0.577 1.00
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1 		chloride voltage-gated channel 1 0.641 0.423 3.3E-20
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype 0.100 None 0 1
Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1 		G protein subunit alpha o1 0.523 0.808 0.99
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype 0.100 None 0 1
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A 		sodium voltage-gated channel alpha subunit 8 0.510 0.731 1.00
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype 0.100 None 0 1
Entrez Id: 7507
Gene Symbol: XPA
XPA 		XPA, DNA damage recognition and repair factor 0.520 0.846 7.9E-05
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		phenotype 0.100 None 0 2