DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Cole Carpenter syndrome ×

Gene: SEC24D ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	9871
Gene Symbol:	SEC24D

SEC24D

CUI:	C1862178
Disease:	Cole Carpenter syndrome

Cole Carpenter syndrome

0.610

GeneticVariation

BEFREE

We will report a patient with compound heterozygous variants of SEC24D causing Cole-Carpenter syndrome type 2.

30462379

2018

Entrez Id:	9871
Gene Symbol:	SEC24D

SEC24D

CUI:	C1862178
Disease:	Cole Carpenter syndrome

Cole Carpenter syndrome

0.610

Biomarker

GENOMICS_ENGLAND

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.

25683121

2015

Entrez Id:	9871
Gene Symbol:	SEC24D

SEC24D

CUI:	C1862178
Disease:	Cole Carpenter syndrome

Cole Carpenter syndrome

0.610

GermlineCausalMutation

ORPHANET

Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta.

25683121

2015

Entrez Id:	9871
Gene Symbol:	SEC24D

SEC24D

CUI:	C1862178
Disease:	Cole Carpenter syndrome

Cole Carpenter syndrome

0.610

Biomarker

CTD_human