DisGeNET - a database of gene-disease associations

Source: CLINVAR

Disease: Multiple congenital anomalies ×

Variant: rs1341894581 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1341894581

ECEL1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

ECEL1 mutation causes fetal arthrogryposis multiplex congenita.

25708584

2015

dbSNP:

rs1341894581

ECEL1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Distal arthrogryposis type 5D with novel clinical features and compound heterozygous mutations in ECEL1.

24782201

2014

dbSNP:

rs1341894581

ECEL1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Distal arthrogryposis type 5D with a novel ECEL1 gene mutation.

25099528

2014

dbSNP:

rs1341894581

ECEL1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

23236030

2013

dbSNP:

rs1341894581

ECEL1

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Mutations in ECEL1 cause distal arthrogryposis type 5D.

23261301

2013