GCH1, GTP cyclohydrolase 1, 2643

N. diseases: 254; N. variants: 66
Disease: Muscle Rigidity ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.400 Biomarker phenotype CTD_human Dopa-responsive infantile hypokinetic rigid syndrome due to dominant guanosine triphosphate cyclohydrolase 1 deficiency. 17368676 2007
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.400 Biomarker phenotype HPO
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity 		0.400 GeneticVariation phenotype CLINVAR