DisGeNET - a database of gene-disease associations

Metaphyseal chondrodysplasia Schmid type, C0265289

Source: ALL

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:

rs111033544

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

15880705

2005

dbSNP:

rs111033545

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

15880705

2005

dbSNP:

rs111033546

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

15880705

2005

dbSNP:

rs111033549

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

15880705

2005

dbSNP:

rs111033550

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

15880705

2005

dbSNP:

rs111033551

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

15880705

2005

dbSNP:

rs111033552

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

15880705

2005

dbSNP:

rs111033553

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

15880705

2005

dbSNP:

rs111033554

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

15880705

2005

dbSNP:

rs111033555

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia.

15880705

2005

dbSNP:

rs111033544

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

9852679

1998

dbSNP:

rs111033545

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

9852679

1998

dbSNP:

rs111033546

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

9852679

1998

dbSNP:

rs111033549

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

9852679

1998

dbSNP:

rs111033550

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

9852679

1998

dbSNP:

rs111033551

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

9852679

1998

dbSNP:

rs111033552

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

9852679

1998

dbSNP:

rs111033553

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

9852679

1998

dbSNP:

rs111033554

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

9852679

1998

dbSNP:

rs111033555

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia.

9852679

1998

dbSNP:

rs111033544

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.

9067753

1997

dbSNP:

rs111033545

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.

9067753

1997

dbSNP:

rs111033546

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.

9067753

1997

dbSNP:

rs111033549

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.

9067753

1997

dbSNP:

rs111033550

COL10A1 ; NT5DC1

0.800

GeneticVariation

UNIPROT

Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia.

9067753

1997