Disease: Multiple congenital anomalies ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555564006
rs1555564006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. 27670155 2017
dbSNP: rs1555564175
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 0.700 CausalMutation CLINVAR Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. 27670155 2017
dbSNP: rs1555564006
rs1555564006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 25790162 2016
dbSNP: rs1555564006
rs1555564006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. 26507355 2016
dbSNP: rs1555564175
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 0.700 CausalMutation CLINVAR Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. 26507355 2016
dbSNP: rs1555564175
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 0.700 CausalMutation CLINVAR Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 25790162 2016
dbSNP: rs1555564006
rs1555564006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. 26118977 2015
dbSNP: rs1555564006
rs1555564006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. 25735261 2015
dbSNP: rs1555564006
rs1555564006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 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
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 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
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 0.700 CausalMutation CLINVAR EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. 26118977 2015
dbSNP: rs1555564175
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 0.700 CausalMutation CLINVAR Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. 25735261 2015
dbSNP: rs1555564006
rs1555564006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. 24470203 2014
dbSNP: rs1555564175
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 0.700 CausalMutation CLINVAR Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. 24470203 2014
dbSNP: rs1555564006
rs1555564006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR """Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype." 23239648 2013
dbSNP: rs1555564006
rs1555564006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 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
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 0.700 CausalMutation CLINVAR """Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype." 23239648 2013
dbSNP: rs1555564175
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 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: rs1555564006
rs1555564006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. 22305528 2012
dbSNP: rs1555564006
rs1555564006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936 2012
dbSNP: rs1555564006
rs1555564006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. 23188108 2012
dbSNP: rs1555564006
rs1555564006
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		T 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs1555564175
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 0.700 CausalMutation CLINVAR Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. 22305528 2012
dbSNP: rs1555564175
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 0.700 CausalMutation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs1555564175
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0000772
Disease:
Multiple congenital anomalies 		GA 0.700 CausalMutation CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936 2012