rs1567564042, MYH3

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Multiple Pterygium Syndrome, Autosomal Dominant
CUI: C1867440
Disease: Multiple Pterygium Syndrome, Autosomal Dominant
0.700 CausalMutation CLINVAR
Short neck
CUI: C0521525
Disease: Short neck
0.700 CausalMutation CLINVAR
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 CausalMutation CLINVAR
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
CUI: C1848934
Disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
0.700 CausalMutation CLINVAR
Neck webbing
CUI: C0221217
Disease: Neck webbing
0.700 CausalMutation CLINVAR
Dysmorphism
CUI: C1737329
Disease: Dysmorphism
0.700 CausalMutation CLINVAR