DisGeNET - a database of gene-disease associations

3-methylcrotonyl CoA carboxylase 2 deficiency, C1859499

Gene: MCCC2 ×

Source: UNIPROT ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs119103220

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs119103221

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs119103222

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs119103223

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs119103224

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs119103225

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs1257849672

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs139852818

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs140806722

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs142887940

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs1443551700

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs1450515408

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs1459143051

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs150327768

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs1554134065

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs277995

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs535519604

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs547662164

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs750782118

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs752866557

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs754741111

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs760420191

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs769558016

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs771440617

MCCC2

0.700

GeneticVariation

UNIPROT

3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.

27601257

2016

dbSNP:

rs119103220

MCCC2

0.700

GeneticVariation

UNIPROT

Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.

25382614

2015