Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		disease 1.000 None 1.000 39 52 1997 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		disease 0.710 None 1.000 0 6 2013 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
Neuronal Ceroid-Lipofuscinoses 		disease 0.700 None 0.968 19 23 1991 2019
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.130 None 1.000 4 10 1998 2013
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		disease 0.110 None 1.000 0 4 2014 2014
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1839364
Disease: Progressive visual loss
Progressive visual loss 		phenotype 0.100 None 0 2
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1845847
Disease: Coarse facial features
Coarse facial features 		phenotype 0.100 None 0 2
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1850041
Disease: Facial hirsutism
Facial hirsutism 		phenotype 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1851400
Disease: Facial Hypertrichosis
Facial Hypertrichosis 		phenotype 0.100 None 0 2
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1853241
Disease: Flat face
Flat face 		phenotype 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 2
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy 		disease 0.100 None 0 3
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		phenotype 0.100 None 0 2
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C4022738
Disease: Neurodevelopmental delay
Neurodevelopmental delay 		phenotype 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		disease 0.100 None 0 2
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C1836830
Disease: Developmental regression
Developmental regression 		disease 0.100 None 0 6
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.100 None 0 4
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		disease 0.100 None 0 2
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0042798
Disease: Low Vision
Low Vision 		disease 0.100 None 0 2
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		phenotype 0.100 None 0 2
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0241210
Disease: Speech Delay
Speech Delay 		disease 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		phenotype 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		phenotype 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		disease 0.100 None 0 1
Entrez Id: 1200
Gene Symbol: TPP1
TPP1 		tripeptidyl peptidase 1 0.551 0.808 6.3E-07
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 2