rs181109321, TTPA

N. diseases: 17
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Clinodactyly of fingers
CUI: C0265610
Disease: Clinodactyly of fingers
0.700 GeneticVariation CLINVAR
Microstomia
CUI: C0026034
Disease: Microstomia
0.700 GeneticVariation CLINVAR
Weight decreased
CUI: C1262477
Disease: Weight decreased
0.700 GeneticVariation CLINVAR
Hammer Toe
CUI: C1136179
Disease: Hammer Toe
0.700 GeneticVariation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 GeneticVariation CLINVAR
Posteriorly rotated ear
CUI: C0431478
Disease: Posteriorly rotated ear
0.700 GeneticVariation CLINVAR
Ataxia with vitamin E deficiency
CUI: C1848533
Disease: Ataxia with vitamin E deficiency
0.700 GeneticVariation CLINVAR
Hallux Valgus
CUI: C0018536
Disease: Hallux Valgus
0.700 GeneticVariation CLINVAR
Dysarthria
CUI: C0013362
Disease: Dysarthria
0.700 GeneticVariation CLINVAR
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
0.700 GeneticVariation CLINVAR
obsolete Abnormal heart morphology
CUI: C4021866
Disease: obsolete Abnormal heart morphology
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 GeneticVariation CLINVAR
Fatigue
CUI: C0015672
Disease: Fatigue
0.700 GeneticVariation CLINVAR
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
0.700 GeneticVariation CLINVAR
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
0.010 GeneticVariation BEFREE A 14-year-old male patient presented with ataxia and mental symptoms caused by a homozygous (552G-->A) alpha-tocopherol transfer protein mutation. 9931538 1999
Ataxia
CUI: C0004134
Disease: Ataxia
0.010 GeneticVariation BEFREE A 14-year-old male patient presented with ataxia and mental symptoms caused by a homozygous (552G-->A) alpha-tocopherol transfer protein mutation. 9931538 1999