NPHP3, nephrocystin 3, 27031

N. diseases: 93; N. variants: 33
Disease: RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs119456963
rs119456963
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C3715199
Disease:
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		0.800 GeneticVariation UNIPROT
dbSNP: rs119456963
rs119456963
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C3715199
Disease:
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		T 0.800 CausalMutation CLINVAR
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C3715199
Disease:
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		C 0.700 CausalMutation CLINVAR Characterizing the morbid genome of ciliopathies. 27894351 2016
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C3715199
Disease:
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		C 0.700 CausalMutation CLINVAR Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping. 20007846 2010
dbSNP: rs751527253
rs751527253
Entrez Id: 27031;100532724
Gene Symbol: NPHP3;NPHP3-ACAD11
NPHP3;NPHP3-ACAD11
CUI: C3715199
Disease:
RENAL-HEPATIC-PANCREATIC DYSPLASIA 1 		C 0.700 CausalMutation CLINVAR Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. 18371931 2008
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: 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: 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