TPP1, tripeptidyl peptidase 1, 1200

N. diseases: 151; N. variants: 73
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1836474
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 7 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 1 6 0.710 None 1.000 1 6 2013 2013
CUI: C1859828
Disease: Increased extraneuronal autofluorescent lipopigment
Increased extraneuronal autofluorescent lipopigment 		phenotype Finding 2 0.100 None 0
CUI: C1850451
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 1
CEROID LIPOFUSCINOSIS, NEURONAL, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 3 86 0.020 None 1.000 2 2016 2017
CUI: C4021781
Disease: Abnormal nervous system electrophysiology
Abnormal nervous system electrophysiology 		phenotype Pathologic Function 3 0.100 None 0
CUI: C1291230
Disease: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA Dehydrogenase Deficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 4 3 0.010 None 1.000 1 2000 2000
CUI: C1850041
Disease: Facial hirsutism
Facial hirsutism 		phenotype Finding 4 2 0.100 None 0 1
CUI: C1834207
Disease: Ceroid Lipofuscinosis, Neuronal, Parry Type
Ceroid Lipofuscinosis, Neuronal, Parry Type 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 5 2 0.300 None 1.000 2 1999 2001
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
CEROID LIPOFUSCINOSIS, NEURONAL, 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 6 66 1.000 None 1.000 60 66 1997 2019
CUI: C3273225
Disease: Hereditary Neurodegenerative Disorder
Hereditary Neurodegenerative Disorder 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 0.010 None 1.000 1 2014 2014
CUI: C1836852
Disease: Curvilinear intracellular accumulation of autofluorescent lipopigment storage material
Curvilinear intracellular accumulation of autofluorescent lipopigment storage material 		phenotype Finding 6 0.100 None 0
CUI: C0423083
Disease: Hypermetric saccades
Hypermetric saccades 		phenotype Finding 7 0.100 None 0
CUI: C1851400
Disease: Facial Hypertrichosis
Facial Hypertrichosis 		phenotype Skin and Connective Tissue Diseases Finding 8 2 0.100 None 0 2
CUI: C4025728
Disease: Increased neuronal autofluorescent lipopigment
Increased neuronal autofluorescent lipopigment 		phenotype Finding 8 0.100 None 0
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy 		disease Disease or Syndrome 9 7 0.100 None 0 3
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 10 9 0.010 None 1.000 1 2012 2012
CUI: C0347959
Disease: Lactic acidemia
Lactic acidemia 		phenotype Disease or Syndrome 12 0.010 None 1.000 1 1998 1998
CUI: C0278184
Disease: Scanning speech
Scanning speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 0.100 None 0
CUI: C0022797
Disease: Adult Neuronal Ceroid Lipofuscinosis
Adult Neuronal Ceroid Lipofuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 16 9 0.500 None 1.000 4 1999 2008
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 16 1 0.010 None 1.000 1 2014 2014
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 17 33 0.010 None 1.000 1 2014 2014
CUI: C0268274
Disease: Gangliosidoses, GM2
Gangliosidoses, GM2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 18 5 0.010 None 1.000 1 2001 2001
CUI: C1836392
Disease: Dysmetric saccades
Dysmetric saccades 		phenotype Finding 18 0.100 None 0
CUI: C0022340
Disease: Late-Infantile Neuronal Ceroid Lipfuscinosis
Late-Infantile Neuronal Ceroid Lipfuscinosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 19 4 0.800 limited 1.000 71 3 1993 2019
CUI: C1843885
Disease: Progressive gait ataxia
Progressive gait ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 21 3 0.100 None 0
CUI: C1855685
Disease: Undetectable electroretinogram
Undetectable electroretinogram 		phenotype Finding 21 0.100 None 0