Gene: TMEM126A ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84233
Gene Symbol: TMEM126A
TMEM126A 		0.160 GeneticVariation disease BEFREE Here we report two novel variants in the TMEM126A gene from non-Maghreb individuals, both found in affected individuals with an arOA phenotype. 30961538 2019
Entrez Id: 84233
Gene Symbol: TMEM126A
TMEM126A 		0.160 GeneticVariation disease BEFREE Autosomal-recessive optic neuropathies are rare blinding conditions related to retinal ganglion cell (RGC) and optic-nerve degeneration, for which only mutations in TMEM126A and ACO2 are known. 26593267 2015
Entrez Id: 84233
Gene Symbol: TMEM126A
TMEM126A 		0.160 GeneticVariation disease BEFREE Additional loci and genes (OPA2, OPA6 and OPA7) are responsible for X-linked or recessive optic atrophy. 22776096 2012
Entrez Id: 84233
Gene Symbol: TMEM126A
TMEM126A 		0.160 GeneticVariation disease BEFREE TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy. 22815638 2012
Entrez Id: 84233
Gene Symbol: TMEM126A
TMEM126A 		0.160 Biomarker disease BEFREE We describe the first detailed phenotyping of patients with autosomal recessive TMEM126A-associated optic atrophy and auditory neuropathy. 20405026 2010
Entrez Id: 84233
Gene Symbol: TMEM126A
TMEM126A 		0.160 GeneticVariation disease BEFREE TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy. 19327736 2009
Entrez Id: 84233
Gene Symbol: TMEM126A
TMEM126A 		0.160 Biomarker disease HPO