Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777450
rs587777450
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0220666
Disease:
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		T 0.800 CausalMutation CLINVAR Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014
dbSNP: rs587777450
rs587777450
Entrez Id: 63895
Gene Symbol: PIEZO2
PIEZO2
CUI: C0220666
Disease:
ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA 		0.800 GeneticVariation UNIPROT Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5. 24726473 2014