Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
0.700 CausalMutation CLINVAR
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
0.700 CausalMutation CLINVAR
Syndactyly of fingers
CUI: C0221352
Disease: Syndactyly of fingers
0.700 CausalMutation CLINVAR
Macular degeneration
CUI: C0024437
Disease: Macular degeneration
0.700 CausalMutation CLINVAR
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
0.700 CausalMutation CLINVAR
Underdeveloped nasal alae
CUI: C1834055
Disease: Underdeveloped nasal alae
0.700 CausalMutation CLINVAR
Narrow forehead
CUI: C1839758
Disease: Narrow forehead
0.700 CausalMutation CLINVAR
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
0.700 CausalMutation CLINVAR
Aplasia/Hypoplasia of the cerebellar vermis
CUI: C1855676
Disease: Aplasia/Hypoplasia of the cerebellar vermis
0.700 CausalMutation CLINVAR
Penile hypospadias
CUI: C1691215
Disease: Penile hypospadias
0.700 CausalMutation CLINVAR
Hypoplasia of corpus callosum
CUI: C0344482
Disease: Hypoplasia of corpus callosum
0.700 CausalMutation CLINVAR
Long palpebral fissure
CUI: C1849340
Disease: Long palpebral fissure
0.700 CausalMutation CLINVAR
Prominent nasal bridge
CUI: C1854113
Disease: Prominent nasal bridge
0.700 CausalMutation CLINVAR
Enlarged cisterna magna
CUI: C1853377
Disease: Enlarged cisterna magna
0.700 CausalMutation CLINVAR