NOTCH2, notch receptor 2, 4853

N. diseases: 384; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033632
rs111033632
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1857761
Disease:
Alagille Syndrome 2
T 0.800 CausalMutation CLINVAR
dbSNP: rs111033632
rs111033632
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs1325403451
rs1325403451
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553193485
rs1553193485
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553193507
rs1553193507
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553193507
rs1553193507
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0151526
Disease:
Premature Birth
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553193574
rs1553193574
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs1553193977
rs1553193977
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs1557801639
rs1557801639
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
C 0.700 CausalMutation CLINVAR
dbSNP: rs1557802353
rs1557802353
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs1557804111
rs1557804111
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1857761
Disease:
Alagille Syndrome 2
A 0.700 GeneticVariation CLINVAR
dbSNP: rs312262793
rs312262793
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs312262794
rs312262794
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs312262795
rs312262795
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs312262798
rs312262798
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C1857761
Disease:
Alagille Syndrome 2
T 0.700 CausalMutation CLINVAR
dbSNP: rs312262798
rs312262798
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome
T 0.700 CausalMutation CLINVAR
dbSNP: rs312262799
rs312262799
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome
G 0.700 CausalMutation CLINVAR
dbSNP: rs312262800
rs312262800
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs312262801
rs312262801
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0085280
Disease:
Alagille Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs387906746
rs387906746
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs387906747
rs387906747
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs387906748
rs387906748
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs387906749
rs387906749
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0917715
Disease:
Hajdu-Cheney Syndrome
A 0.700 CausalMutation CLINVAR
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0265783
Disease:
Congenital hypoplasia of lung
T 0.700 CausalMutation CLINVAR
dbSNP: rs771237928
rs771237928
Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0920299
Disease:
Overriding toe
T 0.700 CausalMutation CLINVAR