Source: ORPHANET

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11
CUI: C0796070
Disease: MICROPHTHALMIA, SYNDROMIC 7
MICROPHTHALMIA, SYNDROMIC 7 		0.720 GermlineCausalMutation ORPHANET Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. 25772934

2015
Entrez Id: 54539
Gene Symbol: NDUFB11
NDUFB11
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.400 GeneticVariation ORPHANET A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016