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: C0241726
Disease: Delayed ability to walk
Delayed ability to walk 		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: C0085584
Disease: Encephalopathies
Encephalopathies 		group 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: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		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: C0151786
Disease: Muscle Weakness
Muscle Weakness 		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: C0162297
Disease: Respiratory arrest
Respiratory arrest 		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: 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: 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: 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: 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: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.110 None 1.000 0 0 2019 2019