MCCC2, methylcrotonoyl-CoA carboxylase 2, 64087

N. diseases: 50; N. variants: 50
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551505
Disease: Methylcrotonyl-CoA carboxylase deficiency
Methylcrotonyl-CoA carboxylase deficiency 		0.020 GeneticVariation disease BEFREE Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency: population heterogeneity of MCCA and MCCB mutations and impact on risk assessment. 16835865 2006
CUI: C4551505
Disease: Methylcrotonyl-CoA carboxylase deficiency
Methylcrotonyl-CoA carboxylase deficiency 		0.020 GeneticVariation disease BEFREE A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency. 22264772 2012
CUI: C0221765
Disease: Chronic schizophrenia
Chronic schizophrenia 		0.010 GeneticVariation disease BEFREE People diagnosed with chronic schizophrenia (n = 821) were assessed with the MCCB and PANSS, and rated by high contact informants with SLOF. 30029051 2018
CUI: C1864399
Disease: Peroxisome Biogenesis Disorder, Complementation Group 7
Peroxisome Biogenesis Disorder, Complementation Group 7 		0.010 GeneticVariation disease BEFREE Two MCCB missense mutations and one splicing defect mutation leading to early MCC beta truncation were found in CGB patients. 11170888 2001
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 Biomarker disease CTD_human
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1859499
Disease: 3-methylcrotonyl CoA carboxylase 2 deficiency
3-methylcrotonyl CoA carboxylase 2 deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		0.520 Biomarker disease CLINGEN Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency. 17968484 2007
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		0.520 Biomarker disease CLINGEN 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening. 27601257 2016
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		0.520 Biomarker disease CLINGEN The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency. 11181649 2001
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		0.520 Biomarker disease CLINGEN 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. 22642865 2012
CUI: C0268600
Disease: 3-methylcrotonyl CoA carboxylase 1 deficiency
3-methylcrotonyl CoA carboxylase 1 deficiency 		0.520 Biomarker disease CLINGEN The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism. 11170888 2001
CUI: C0268579
Disease: Propionic acidemia
Propionic acidemia 		0.110 Biomarker disease HPO
CUI: C0002170
Disease: Alopecia
Alopecia 		0.100 Biomarker disease HPO
CUI: C0009421
Disease: Comatose
Comatose 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.100 Biomarker disease HPO
CUI: C0022638
Disease: Ketosis
Ketosis 		0.100 Biomarker disease HPO
CUI: C0023380
Disease: Lethargy
Lethargy 		0.100 Biomarker phenotype HPO
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		0.100 Biomarker group HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0.100 Biomarker phenotype HPO
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		0.100 Biomarker phenotype HPO
CUI: C0036508
Disease: Seborrheic dermatitis
Seborrheic dermatitis 		0.100 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.100 Biomarker phenotype HPO