Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.400 GeneticVariation CLINVAR

Entrez Id: 5663
Gene Symbol: PSEN1
PSEN1
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.120 GeneticVariation CLINVAR A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961

2014
Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.110 GeneticVariation CLINVAR

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.110 SusceptibilityMutation CLINVAR

Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 CausalMutation CLINVAR

Entrez Id: 2775
Gene Symbol: GNAO1
GNAO1
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 GeneticVariation CLINVAR

Entrez Id: 1180
Gene Symbol: CLCN1
CLCN1
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 CausalMutation CLINVAR

Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 CausalMutation CLINVAR

Entrez Id: 7507
Gene Symbol: XPA
XPA
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.100 GeneticVariation CLINVAR