rs797045283, ARID1B

N. diseases: 11
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
0.700 CausalMutation CLINVAR
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
0.700 CausalMutation CLINVAR
Torticollis
CUI: C0040485
Disease: Torticollis
0.700 CausalMutation CLINVAR
Premature Birth
CUI: C0151526
Disease: Premature Birth
0.700 CausalMutation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 CausalMutation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 CausalMutation CLINVAR
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
0.700 CausalMutation CLINVAR
Congenital talipes calcaneovalgus
CUI: C4551629
Disease: Congenital talipes calcaneovalgus
0.700 CausalMutation CLINVAR
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
0.700 CausalMutation CLINVAR
Strawberry nevus of skin
CUI: C0206733
Disease: Strawberry nevus of skin
0.700 CausalMutation CLINVAR