PMM2, phosphomannomutase 2, 5373

N. diseases: 214; N. variants: 82
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338703
rs80338703
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
A 0.820 CausalMutation CLINVAR
dbSNP: rs78290141
rs78290141
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
T 0.810 CausalMutation CLINVAR
dbSNP: rs104894526
rs104894526
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
T 0.800 CausalMutation CLINVAR
dbSNP: rs104894530
rs104894530
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
C 0.800 CausalMutation CLINVAR
dbSNP: rs104894531
rs104894531
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
G 0.800 CausalMutation CLINVAR
dbSNP: rs104894532
rs104894532
Entrez Id: 5373;25880
Gene Symbol: PMM2;TMEM186
PMM2;TMEM186
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
A 0.800 CausalMutation CLINVAR
dbSNP: rs104894534
rs104894534
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
C 0.800 CausalMutation CLINVAR
dbSNP: rs141498002
rs141498002
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
A 0.800 GeneticVariation CLINVAR
dbSNP: rs200503569
rs200503569
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
0.800 GeneticVariation UNIPROT
dbSNP: rs80338702
rs80338702
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
C 0.800 CausalMutation CLINVAR
dbSNP: rs80338704
rs80338704
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
G 0.800 CausalMutation CLINVAR
dbSNP: rs80338705
rs80338705
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
T 0.800 CausalMutation CLINVAR
dbSNP: rs80338706
rs80338706
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
G 0.800 CausalMutation CLINVAR
dbSNP: rs80338708
rs80338708
Entrez Id: 5373;100130283
Gene Symbol: PMM2;LOC100130283
PMM2;LOC100130283
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
T 0.800 CausalMutation CLINVAR
dbSNP: rs1057517110
rs1057517110
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
C 0.720 CausalMutation CLINVAR
dbSNP: rs755008774
rs755008774
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
C 0.720 GeneticVariation CLINVAR
dbSNP: rs28936415
rs28936415
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0282577
Disease:
Congenital Disorders of Glycosylation
A 0.710 CausalMutation CLINVAR
dbSNP: rs104894533
rs104894533
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
G 0.700 CausalMutation CLINVAR
dbSNP: rs1057516372
rs1057516372
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516757
rs1057516757
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
AG 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516815
rs1057516815
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516886
rs1057516886
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057516943
rs1057516943
Entrez Id: 5373;25880
Gene Symbol: PMM2;TMEM186
PMM2;TMEM186
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517117
rs1057517117
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1057517183
rs1057517183
Entrez Id: 5373
Gene Symbol: PMM2
PMM2
CUI: C0349653
Disease:
Congenital disorder of glycosylation type 1A
A 0.700 GeneticVariation CLINVAR