rs557849165, MYH3

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
CUI: C1848934
Disease: SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME
0.700 CausalMutation CLINVAR
Klippel-Feil Syndrome
CUI: C0022738
Disease: Klippel-Feil Syndrome
0.700 CausalMutation CLINVAR
Multiple Pterygium Syndrome, Autosomal Dominant
CUI: C1867440
Disease: Multiple Pterygium Syndrome, Autosomal Dominant
0.700 CausalMutation CLINVAR
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
0.700 CausalMutation CLINVAR
Neck webbing
CUI: C0221217
Disease: Neck webbing
0.700 CausalMutation CLINVAR
Syndactyly of fingers
CUI: C0221352
Disease: Syndactyly of fingers
0.700 CausalMutation CLINVAR
Short neck
CUI: C0521525
Disease: Short neck
0.700 CausalMutation CLINVAR
Fused cervical vertebrae
CUI: C3887527
Disease: Fused cervical vertebrae
0.700 CausalMutation CLINVAR
Dysmorphism
CUI: C1737329
Disease: Dysmorphism
0.700 CausalMutation CLINVAR