Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Temporal hypotrichosis
CUI: C4025316
Disease: Temporal hypotrichosis
0.700 GeneticVariation CLINVAR
Absent fifth toenail
CUI: C4021892
Disease: Absent fifth toenail
0.700 GeneticVariation CLINVAR
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
0.700 GeneticVariation CLINVAR
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
0.700 GeneticVariation CLINVAR
Fullness of paranasal tissue
CUI: C4021065
Disease: Fullness of paranasal tissue
0.700 GeneticVariation CLINVAR
Irregularly spaced teeth
CUI: C1845878
Disease: Irregularly spaced teeth
0.700 GeneticVariation CLINVAR
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
0.700 GeneticVariation CLINVAR
Autistic Disorder
CUI: C0004352
Disease: Autistic Disorder
0.700 GeneticVariation CLINVAR
Short distal phalanx of the 5th finger
CUI: C1836674
Disease: Short distal phalanx of the 5th finger
0.700 GeneticVariation CLINVAR
Macrostomia
CUI: C0024433
Disease: Macrostomia
0.700 GeneticVariation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 GeneticVariation CLINVAR
Gait, Unsteady
CUI: C0231686
Disease: Gait, Unsteady
0.700 GeneticVariation CLINVAR
Anteverted nostril
CUI: C1840077
Disease: Anteverted nostril
0.700 GeneticVariation CLINVAR
MENTAL RETARDATION, AUTOSOMAL DOMINANT 27
CUI: C4014528
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 27
0.700 GeneticVariation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
Low set ears
CUI: C0239234
Disease: Low set ears
0.700 GeneticVariation CLINVAR
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 GeneticVariation CLINVAR
Overbite
CUI: C1305740
Disease: Overbite
0.700 GeneticVariation CLINVAR