Source: INFERRED

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: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C4540171
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE IX
3-METHYLGLUTACONIC ACIDURIA, TYPE IX 		disease 0.700 None 1.000 0 2 2017 2019
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C3696376
Disease: 3-Methylglutaconic Aciduria
3-Methylglutaconic Aciduria 		disease 0.120 None 1.000 0 0 2017 2019
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.110 None 1.000 0 0 2019 2019
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype 0.100 None 1.000 12 1 2000 2017
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C1854882
Disease: Absent speech
Absent speech 		phenotype 0.100 None 0 0
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		phenotype 0.100 None 0 2
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C1852373
Disease: Mitochondrial encephalopathy
Mitochondrial encephalopathy 		disease 0.100 None 0 2
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C1850573
Disease: Slender build
Slender build 		phenotype 0.100 None 0 0
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C1849489
Disease: Increased serum alanine
Increased serum alanine 		phenotype 0.100 None 0 2
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		disease 0.100 None 0 2
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		disease 0.100 None 0 2
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		disease 0.100 None 0 2
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C4023125
Disease: Decreased activity of mitochondrial ATP synthase complex
Decreased activity of mitochondrial ATP synthase complex 		phenotype 0.100 None 0 0
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C4024705
Disease: Decreased activity of mitochondrial complex II
Decreased activity of mitochondrial complex II 		phenotype 0.100 None 0 2
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C4024923
Disease: Diffuse white matter abnormalities
Diffuse white matter abnormalities 		disease 0.100 None 0 0
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C4551584
Disease: Brain atrophy
Brain atrophy 		disease 0.100 None 0 2
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C1836440
Disease: Increased serum lactate
Increased serum lactate 		phenotype 0.100 None 0 0
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia 		phenotype 0.100 None 0 2
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		phenotype 0.100 None 0 0
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C0009024
Disease: Clonus
Clonus 		phenotype 0.100 None 0 0
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		disease 0.100 None 0 0
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype 0.100 None 0 0
Entrez Id: 92609
Gene Symbol: TIMM50
TIMM50 		translocase of inner mitochondrial membrane 50 0.678 0.500 1.8E-03
CUI: C0038220
Disease: Status Epilepticus
Status Epilepticus 		disease 0.100 None 0 0