TMEM126B, transmembrane protein 126B, 55863

N. diseases: 56; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4748830
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 		0.600 Biomarker disease GENOMICS_ENGLAND Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. 27374774 2016
CUI: C4748830
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. 27374773 2016
CUI: C4748830
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 		0.600 GeneticVariation disease UNIPROT Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. 27374774 2016
CUI: C4748830
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 		0.600 GeneticVariation disease UNIPROT Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. 27374773 2016
CUI: C4748830
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29 		0.600 CausalMutation disease CLINVAR
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 GermlineCausalMutation disease ORPHANET Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. 27374773 2016
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.300 GermlineCausalMutation disease ORPHANET Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. 27374774 2016
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.110 Biomarker phenotype BEFREE Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency. 27374773 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.110 GeneticVariation group BEFREE Here, we describe the clinical, biochemical, and molecular findings in six cases of mitochondrial disease from four unrelated families affected by biallelic (c.635G>T [p.Gly212Val] and/or c.401delA [p.Asn134Ilefs(∗)2]) TMEM126B variants. 27374774 2016
CUI: C0751651
Disease: Mitochondrial Diseases
Mitochondrial Diseases 		0.110 CausalMutation group CLINVAR Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype. 27374774 2016
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		0.110 Biomarker phenotype HPO
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		0.100 Biomarker phenotype HPO
CUI: C0004134
Disease: Ataxia
Ataxia 		0.100 Biomarker phenotype HPO
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		0.100 Biomarker disease HPO
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.100 Biomarker disease HPO
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.100 Biomarker group HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		0.100 Biomarker disease HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO