GLIS2, GLIS family zinc finger 2, 84662

N. diseases: 67; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777353
rs587777353
Entrez Id: 51025;84662
Gene Symbol: PAM16;GLIS2
PAM16;GLIS2
CUI: C0687120
Disease:
Nephronophthisis
0.710 GeneticVariation BEFREE The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product. 26374130 2016
dbSNP: rs587777353
rs587777353
Entrez Id: 51025;84662
Gene Symbol: PAM16;GLIS2
PAM16;GLIS2
CUI: C0687120
Disease:
Nephronophthisis
C 0.710 CausalMutation CLINVAR
dbSNP: rs587777353
rs587777353
Entrez Id: 51025;84662
Gene Symbol: PAM16;GLIS2
PAM16;GLIS2
CUI: C1969092
Disease:
NEPHRONOPHTHISIS 7
C 0.700 CausalMutation CLINVAR
dbSNP: rs878855335
rs878855335
Entrez Id: 51025;84662
Gene Symbol: PAM16;GLIS2
PAM16;GLIS2
CUI: C0687120
Disease:
Nephronophthisis
T 0.700 CausalMutation CLINVAR
dbSNP: rs587777353
rs587777353
Entrez Id: 51025;84662
Gene Symbol: PAM16;GLIS2
PAM16;GLIS2
CUI: C0020258
Disease:
Hydrocephalus, Normal Pressure
0.010 GeneticVariation BEFREE Taken together, our findings indicate that the C175R mutation affects both localization and function of GLIS2/NPHP7, supporting a role of this mutation in NPH, but questioning the direct involvement of GLIS2/NPHP7 in ciliary functions. 26374130 2016