TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119455954
rs119455954
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800 GeneticVariation UNIPROT
dbSNP: rs121908200
rs121908200
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
G 0.800 CausalMutation CLINVAR
dbSNP: rs28940573
rs28940573
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
A 0.800 CausalMutation CLINVAR
dbSNP: rs398122959
rs398122959
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1836474
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
C 0.800 CausalMutation CLINVAR
dbSNP: rs765380155
rs765380155
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
0.800 GeneticVariation UNIPROT
dbSNP: rs765380155
rs765380155
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
T 0.800 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1850041
Disease:
Facial hirsutism
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1836830
Disease:
Developmental regression
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1845847
Disease:
Coarse facial features
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0036572
Disease:
Seizures
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0042798
Disease:
Low Vision
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0235946
Disease:
Cerebral atrophy
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0026106
Disease:
Mild Mental Retardation
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1851400
Disease:
Facial Hypertrichosis
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C4021219
Disease:
Multifocal epileptiform discharges
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0557874
Disease:
Global developmental delay
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C4025860
Disease:
Hearing abnormality
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516264
rs1057516264
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C0740279
Disease:
Cerebellar atrophy
TC 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516319
rs1057516319
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516366
rs1057516366
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CA 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516511
rs1057516511
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516579
rs1057516579
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
TG 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516667
rs1057516667
Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1876161
Disease:
CEROID LIPOFUSCINOSIS, NEURONAL, 2
G 0.700 GeneticVariation CLINVAR