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: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C4310634
Disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES 		disease 0.700 None 1.000 0 6 2016 2016
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0752202
Disease: Childhood Onset Dystonias
Childhood Onset Dystonias 		disease 0.110 None 1.000 0 6 2016 2016
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0029124
Disease: Optic Atrophy
Optic Atrophy 		disease 0.110 None 1.000 0 6 2016 2016
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		phenotype 0.100 None 1.000 1 1 2018 2018
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease 0.100 None 0 1
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C4023011
Disease: Craniofacial dystonia
Craniofacial dystonia 		disease 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C4024926
Disease: Focal T2 hyperintense basal ganglia lesion
Focal T2 hyperintense basal ganglia lesion 		phenotype 0.100 None 0 1
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype 0.100 None 0 1
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		disease 0.100 None 0 1
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0008489
Disease: Chorea
Chorea 		phenotype 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		disease 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0027066
Disease: Myoclonus
Myoclonus 		phenotype 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype 0.100 None 0 0
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease 0.100 None 0 1
Entrez Id: 51102
Gene Symbol: MECR
MECR 		mitochondrial trans-2-enoyl-CoA reductase 0.736 0.385 2.2E-05
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype 0.100 None 0 0