DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Multiple congenital anomalies ×

Variant: rs1555564175 ×

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:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.

27670155

2017

dbSNP:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.

26507355

2016

dbSNP:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

25790162

2016

dbSNP:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.

24266672

2015

dbSNP:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model.

26118977

2015

dbSNP:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome.

25735261

2015

dbSNP:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.

24470203

2014

dbSNP:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

"""Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype."

23239648

2013

dbSNP:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.

23879989

2013

dbSNP:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.

22305528

2012

dbSNP:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

22541558

2012

dbSNP:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Clinical application of exome sequencing in undiagnosed genetic conditions.

22581936

2012

dbSNP:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

23188108

2012

dbSNP:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome?

19921636

2009

dbSNP:

rs1555564175

EFTUD2

CUI:	C0000772
Disease:	Multiple congenital anomalies

Multiple congenital anomalies

0.700

CausalMutation

CLINVAR

A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.

16760738

2006