Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74435397
rs74435397
Entrez Id: 10436
Gene Symbol: EMG1
EMG1
CUI: C1859405
Disease:
Bowen-Conradi syndrome 		0.820 GeneticVariation BEFREE The Nep1 (Emg1) SPOUT-class methyltransferase is an essential ribosome assembly factor and the human Bowen-Conradi syndrome (BCS) is caused by a specific Nep1(D86G) mutation. 20972225 2011
dbSNP: rs74435397
rs74435397
Entrez Id: 10436
Gene Symbol: EMG1
EMG1
CUI: C1859405
Disease:
Bowen-Conradi syndrome 		0.820 GeneticVariation UNIPROT Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. 19463982 2009
dbSNP: rs74435397
rs74435397
Entrez Id: 10436
Gene Symbol: EMG1
EMG1
CUI: C1859405
Disease:
Bowen-Conradi syndrome 		0.820 GeneticVariation BEFREE We identified variant NM_006331.6:c.400A-->G, p.D86G in the 18S ribosome assembly protein EMG1 as the probable cause of BCS. 19463982 2009
dbSNP: rs74435397
rs74435397
Entrez Id: 10436
Gene Symbol: EMG1
EMG1
CUI: C1859405
Disease:
Bowen-Conradi syndrome 		G 0.820 CausalMutation CLINVAR
dbSNP: rs12580543
rs12580543
Entrez Id: 716;10162;10436
Gene Symbol: C1S;LPCAT3;EMG1
C1S;LPCAT3;EMG1
CUI: C1281901
Disease:
Fatty acid measurement 		C 0.700 GeneticVariation GWASCAT A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study. 25500335 2015