rs869025222, RARB

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
MICROPHTHALMIA, SYNDROMIC 12
CUI: C3809803
Disease: MICROPHTHALMIA, SYNDROMIC 12
0.700 GeneticVariation CLINVAR Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment. 27120018 2016
Dystonia
CUI: C0013421
Disease: Dystonia
0.700 GeneticVariation CLINVAR
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
0.700 GeneticVariation CLINVAR
Breath-holding spell
CUI: C0476287
Disease: Breath-holding spell
0.700 GeneticVariation CLINVAR
Severe gastroesophageal reflux
CUI: C1857946
Disease: Severe gastroesophageal reflux
0.700 GeneticVariation CLINVAR
Microphthalmos
CUI: C0026010
Disease: Microphthalmos
0.700 GeneticVariation CLINVAR
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
0.700 GeneticVariation CLINVAR
Patent ductus arteriosus
CUI: C0013274
Disease: Patent ductus arteriosus
0.700 GeneticVariation CLINVAR
Congenital malrotation of intestine
CUI: C0221210
Disease: Congenital malrotation of intestine
0.700 GeneticVariation CLINVAR