FHL1, four and a half LIM domains 1, 2273

N. diseases: 195; N. variants: 22
Disease: Scapuloperoneal myopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs122458140
rs122458140
Entrez Id: 2273
Gene Symbol: FHL1
FHL1
CUI: C2931268
Disease:
Scapuloperoneal myopathy 		0.010 GeneticVariation BEFREE We previously generated a knock-in mouse model that has the same mutation (c.365 G > C, p.W122S) as human X-SM patients. 30260394 2019