TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 Biomarker disease GENOMICS_ENGLAND
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		1.000 Biomarker disease CTD_human
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		0.710 CausalMutation disease CLINVAR
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		0.710 Biomarker disease CTD_human
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0036572
Disease: Seizures
Seizures 		0.130 CausalMutation phenotype CLINVAR
CUI: C0036572
Disease: Seizures
Seizures 		0.130 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.110 Biomarker phenotype HPO
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.110 GeneticVariation disease CLINVAR
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.110 Biomarker disease HPO
CUI: C0012569
Disease: Diplopia
Diplopia 		0.100 Biomarker phenotype HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 GeneticVariation disease CLINVAR
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation disease CLINVAR
CUI: C0027066
Disease: Myoclonus
Myoclonus 		0.100 Biomarker phenotype HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.100 Biomarker phenotype HPO
CUI: C0035304
Disease: Retinal Degeneration
Retinal Degeneration 		0.100 Biomarker phenotype HPO
CUI: C0042798
Disease: Low Vision
Low Vision 		0.100 GeneticVariation disease CLINVAR