Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397515431
rs397515431
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		C 0.700 CausalMutation CLINVAR
dbSNP: rs797045551
rs797045551
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		C 0.700 CausalMutation CLINVAR
dbSNP: rs863224868
rs863224868
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs879253727
rs879253727
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		C 0.700 CausalMutation CLINVAR
dbSNP: rs794729651
rs794729651
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		CA 0.700 CausalMutation CLINVAR
dbSNP: rs1135401812
rs1135401812
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1555564126
rs1555564126
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1837218
Disease:
Cleft palate, isolated 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555564126
rs1555564126
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0424503
Disease:
Dysmorphic facies 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555564126
rs1555564126
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C4281993
Disease:
Neonatal respiratory distress 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555564126
rs1555564126
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0018818
Disease:
Ventricular Septal Defects 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555564126
rs1555564126
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555564126
rs1555564126
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1860816
Disease:
Preauricular skin tag 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555564126
rs1555564126
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0020224
Disease:
Polyhydramnios 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555564126
rs1555564126
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1846460
Disease:
Abnormality of the outer ear 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555564126
rs1555564126
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1386048
Disease:
Intrauterine retardation 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs797045550
rs797045550
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C1864652
Disease:
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		G 0.700 CausalMutation CLINVAR
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 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
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. 25735261 2015
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 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: C0432072
Disease:
Dysmorphic features 		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: C0432072
Disease:
Dysmorphic features 		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: C0432072
Disease:
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 25790162 2016
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