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: 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
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: 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: rs1555564175
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		GA 0.700 CausalMutation CLINVAR Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. 27670155 2017
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: Mutation and Database Update. 26507355 2016
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: 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 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: rs1555564175
rs1555564175
Entrez Id: 9343
Gene Symbol: EFTUD2
EFTUD2
CUI: C0432072
Disease:
Dysmorphic features 		GA 0.700 CausalMutation 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 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 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: 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: 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: 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