rs1554901898, TPP1

N. diseases: 12
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Hearing abnormality
CUI: C4025860
Disease: Hearing abnormality
0.700 GeneticVariation CLINVAR
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
0.700 GeneticVariation CLINVAR
Mild Mental Retardation
CUI: C0026106
Disease: Mild Mental Retardation
0.700 GeneticVariation CLINVAR
Facial Hypertrichosis
CUI: C1851400
Disease: Facial Hypertrichosis
0.700 GeneticVariation CLINVAR
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
0.700 GeneticVariation CLINVAR
Seizures
CUI: C0036572
Disease: Seizures
0.700 GeneticVariation CLINVAR
Low Vision
CUI: C0042798
Disease: Low Vision
0.700 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Multifocal epileptiform discharges
CUI: C4021219
Disease: Multifocal epileptiform discharges
0.700 GeneticVariation CLINVAR
Coarse facial features
CUI: C1845847
Disease: Coarse facial features
0.700 GeneticVariation CLINVAR
Developmental regression
CUI: C1836830
Disease: Developmental regression
0.700 GeneticVariation CLINVAR
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.700 GeneticVariation CLINVAR