GHR, growth hormone receptor, 2690

N. diseases: 10; N. variants: 31
Disease: Disproportionate short-limb short stature ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs143814221
rs143814221
Entrez Id: 2690
Gene Symbol: GHR
GHR
CUI: C1849937
Disease:
Disproportionate short-limb short stature 		C 0.700 CausalMutation CLINVAR