Source: CURATED

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: 55863
Gene Symbol: TMEM126B
TMEM126B 		transmembrane protein 126B 0.716 0.385 1.9E-04
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.300 None 1.000 2 0 2016 2016
Entrez Id: 51300
Gene Symbol: TIMMDC1
TIMMDC1 		translocase of inner mitochondrial membrane domain containing 1 0.653 0.538 1.1E-08
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 60528
Gene Symbol: ELAC2
ELAC2 		elaC ribonuclease Z 2 0.670 0.346 1.7E-20
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.300 strong 1.000 1 0 2016 2016
Entrez Id: 4716
Gene Symbol: NDUFB10
NDUFB10 		NADH:ubiquinone oxidoreductase subunit B10 0.729 0.308 4.8E-03
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.300 None 1.000 1 0 2017 2017
Entrez Id: 4537
Gene Symbol: ND3
ND3 		NADH dehydrogenase, subunit 3 (complex I) 0.604 0.654
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		disease 0.300 None 1.000 1 0 2004 2004