UPF1, UPF1 RNA helicase and ATPase, 5976

N. diseases: 38; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs374016704
rs374016704
Entrez Id: 2657;5976;10715
Gene Symbol: GDF1;UPF1;CERS1
GDF1;UPF1;CERS1
CUI: C3151221
Disease:
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 		0.800 GeneticVariation UNIPROT Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 28991257 2017
dbSNP: rs374016704
rs374016704
Entrez Id: 2657;5976;10715
Gene Symbol: GDF1;UPF1;CERS1
GDF1;UPF1;CERS1
CUI: C3151221
Disease:
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 		0.800 GeneticVariation UNIPROT Loss-of-function mutations in growth differentiation factor-1 (GDF1) are associated with congenital heart defects in humans. 17924340 2007
dbSNP: rs374016704
rs374016704
Entrez Id: 2657;5976;10715
Gene Symbol: GDF1;UPF1;CERS1
GDF1;UPF1;CERS1
CUI: C3151221
Disease:
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 		G 0.800 CausalMutation CLINVAR
dbSNP: rs374016704
rs374016704
Entrez Id: 2657;5976;10715
Gene Symbol: GDF1;UPF1;CERS1
GDF1;UPF1;CERS1
CUI: C3178805
Disease:
Heterotaxy Syndrome 		G 0.700 GeneticVariation CLINVAR Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands. 28991257 2017
dbSNP: rs374016704
rs374016704
Entrez Id: 2657;5976;10715
Gene Symbol: GDF1;UPF1;CERS1
GDF1;UPF1;CERS1
CUI: C3178805
Disease:
Heterotaxy Syndrome 		G 0.700 GeneticVariation CLINVAR Clinical application of whole-exome sequencing across clinical indications. 26633542 2016
dbSNP: rs374016704
rs374016704
Entrez Id: 2657;5976;10715
Gene Symbol: GDF1;UPF1;CERS1
GDF1;UPF1;CERS1
CUI: C0018798
Disease:
Congenital Heart Defects 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs753643819
rs753643819
Entrez Id: 2657;5976;10715
Gene Symbol: GDF1;UPF1;CERS1
GDF1;UPF1;CERS1
CUI: C0175707
Disease:
Asplenia Syndrome 		C 0.700 CausalMutation CLINVAR
dbSNP: rs768027510
rs768027510
Entrez Id: 2657;5976;10715
Gene Symbol: GDF1;UPF1;CERS1
GDF1;UPF1;CERS1
CUI: C3178805
Disease:
Heterotaxy Syndrome 		C 0.700 GeneticVariation CLINVAR