NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119456959
rs119456959
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
T 0.700 CausalMutation CLINVAR
dbSNP: rs119456960
rs119456960
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
G 0.700 CausalMutation CLINVAR
dbSNP: rs119456961
rs119456961
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
A 0.700 CausalMutation CLINVAR
dbSNP: rs119456962
rs119456962
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C2673885
Disease:
Renal hepatic pancreatic dysplasia Dandy Walker cyst
A 0.700 CausalMutation CLINVAR
dbSNP: rs119456964
rs119456964
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C3715199
Disease:
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
A 0.700 CausalMutation CLINVAR
dbSNP: rs143451766
rs143451766
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
0.700 GeneticVariation UNIPROT
dbSNP: rs1485445500
rs1485445500
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C4551493
Disease:
Situs inversus totalis
A 0.700 CausalMutation CLINVAR
dbSNP: rs1485445500
rs1485445500
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553773271
rs1553773271
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
Nephronophthisis
T 0.700 CausalMutation CLINVAR
dbSNP: rs1560000875
rs1560000875
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
Nephronophthisis
C 0.700 CausalMutation CLINVAR
dbSNP: rs1560002147
rs1560002147
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
Nephronophthisis
TG 0.700 CausalMutation CLINVAR
dbSNP: rs1560017690
rs1560017690
Entrez Id: 27031;348808;100532724
Gene Symbol: NPHP3;NPHP3-AS1;NPHP3-ACAD11
NPHP3;NPHP3-AS1;NPHP3-ACAD11
CUI: C0687120
Disease:
Nephronophthisis
A 0.700 CausalMutation CLINVAR
dbSNP: rs182135982
rs182135982
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C3715199
Disease:
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs182135982
rs182135982
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
Nephronophthisis
T 0.700 CausalMutation CLINVAR
dbSNP: rs182135982
rs182135982
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
T 0.700 CausalMutation CLINVAR
dbSNP: rs182135982
rs182135982
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C2673885
Disease:
Renal hepatic pancreatic dysplasia Dandy Walker cyst
T 0.700 CausalMutation CLINVAR
dbSNP: rs267606916
rs267606916
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
A 0.700 CausalMutation CLINVAR
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0022680
Disease:
Polycystic Kidney Diseases
C 0.700 CausalMutation CLINVAR
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
C 0.700 CausalMutation CLINVAR
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C2673885
Disease:
Renal hepatic pancreatic dysplasia Dandy Walker cyst
C 0.700 CausalMutation CLINVAR
dbSNP: rs75316802
rs75316802
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C1858392
Disease:
NEPHRONOPHTHISIS 3
0.700 GeneticVariation UNIPROT
dbSNP: rs754508002
rs754508002
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C3715199
Disease:
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1
T 0.700 CausalMutation CLINVAR
dbSNP: rs758238787
rs758238787
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
Nephronophthisis
T 0.700 CausalMutation CLINVAR
dbSNP: rs758498695
rs758498695
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
Nephronophthisis
T 0.700 GeneticVariation CLINVAR
dbSNP: rs771215577
rs771215577
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C0687120
Disease:
Nephronophthisis
AT 0.700 CausalMutation CLINVAR