ECEL1, endothelin converting enzyme like 1, 9427

N. diseases: 60; N. variants: 21
Disease: Distal arthrogryposis type 5D ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1341894581
rs1341894581
Entrez Id: 9427
Gene Symbol: ECEL1
ECEL1
CUI: C3554415
Disease:
Distal arthrogryposis type 5D 		C 0.700 CausalMutation CLINVAR