rs1555528356, ANKRD11

N. diseases: 13
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Shortening of all phalanges of fingers
CUI: C4023133
Disease: Shortening of all phalanges of fingers
0.700 GeneticVariation CLINVAR
Prominent fingertip pads
CUI: C1835807
Disease: Prominent fingertip pads
0.700 GeneticVariation CLINVAR
KBG syndrome
CUI: C0220687
Disease: KBG syndrome
0.700 GeneticVariation CLINVAR
Brachydactyly
CUI: C0221357
Disease: Brachydactyly
0.700 GeneticVariation CLINVAR
Thin lips
CUI: C0578038
Disease: Thin lips
0.700 GeneticVariation CLINVAR
Excessive tearing
CUI: C0152227
Disease: Excessive tearing
0.700 GeneticVariation CLINVAR
Broad forehead
CUI: C1849089
Disease: Broad forehead
0.700 GeneticVariation CLINVAR
Atrioventricular Septal Defect
CUI: C1389018
Disease: Atrioventricular Septal Defect
0.700 GeneticVariation CLINVAR
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
0.700 GeneticVariation CLINVAR
Long philtrum
CUI: C1865014
Disease: Long philtrum
0.700 GeneticVariation CLINVAR
Macrostomia
CUI: C0024433
Disease: Macrostomia
0.700 GeneticVariation CLINVAR
Low set ears
CUI: C0239234
Disease: Low set ears
0.700 GeneticVariation CLINVAR
Broad eyebrow
CUI: C1856121
Disease: Broad eyebrow
0.700 GeneticVariation CLINVAR