Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906877
rs387906877
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		0.800 GeneticVariation UNIPROT Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. 22305528 2012
dbSNP: rs387906879
rs387906879
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		0.800 GeneticVariation UNIPROT Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. 22305528 2012
dbSNP: rs387906877
rs387906877
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1057518932
rs1057518932
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0557874
Disease:
Global developmental delay 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057518932
rs1057518932
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0036572
Disease:
Seizures 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057520673
rs1057520673
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Clinical application of exome sequencing in undiagnosed genetic conditions. 22581936 2012
dbSNP: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 22541558 2012
dbSNP: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation 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: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. 16760738 2006
dbSNP: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly. 24266672 2015
dbSNP: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. 22305528 2012
dbSNP: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. 23879989 2013
dbSNP: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 25790162 2016
dbSNP: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR """Mandibulofacial dysostosis with microcephaly"" caused by EFTUD2 mutations: expanding the phenotype." 23239648 2013
dbSNP: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. 23188108 2012
dbSNP: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. 24470203 2014
dbSNP: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. 26507355 2016
dbSNP: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. 26118977 2015
dbSNP: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. 25735261 2015
dbSNP: rs1085307457
rs1085307457
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		A 0.700 GeneticVariation CLINVAR Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. 27670155 2017
dbSNP: rs387906878
rs387906878
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		A 0.700 CausalMutation CLINVAR
dbSNP: rs879253725
rs879253725
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		A 0.700 CausalMutation CLINVAR
dbSNP: rs879253728
rs879253728
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		A 0.700 CausalMutation CLINVAR
dbSNP: rs387906879
rs387906879
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		C 0.800 CausalMutation CLINVAR