GLI2, GLI family zinc finger 2, 2736

N. diseases: 351; N. variants: 37
Disease: CULLER-JONES SYNDROME ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1558937172
rs1558937172
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C4014479
Disease:
CULLER-JONES SYNDROME 		A 0.700 GeneticVariation CLINVAR Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly. 20685856 2010
dbSNP: rs1558937172
rs1558937172
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C4014479
Disease:
CULLER-JONES SYNDROME 		A 0.700 GeneticVariation CLINVAR Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. 14581620 2003
dbSNP: rs114814747
rs114814747
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C4014479
Disease:
CULLER-JONES SYNDROME 		0.700 GeneticVariation UNIPROT
dbSNP: rs1388607733
rs1388607733
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C4014479
Disease:
CULLER-JONES SYNDROME 		AT 0.700 CausalMutation CLINVAR
dbSNP: rs149140724
rs149140724
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C4014479
Disease:
CULLER-JONES SYNDROME 		0.700 GeneticVariation UNIPROT
dbSNP: rs149800897
rs149800897
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C4014479
Disease:
CULLER-JONES SYNDROME 		0.700 GeneticVariation UNIPROT
dbSNP: rs1553471273
rs1553471273
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C4014479
Disease:
CULLER-JONES SYNDROME 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1553478423
rs1553478423
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C4014479
Disease:
CULLER-JONES SYNDROME 		C 0.700 CausalMutation CLINVAR
dbSNP: rs374155310
rs374155310
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C4014479
Disease:
CULLER-JONES SYNDROME 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587777455
rs587777455
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C4014479
Disease:
CULLER-JONES SYNDROME 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587777456
rs587777456
Entrez Id: 2736
Gene Symbol: GLI2
GLI2
CUI: C4014479
Disease:
CULLER-JONES SYNDROME 		C 0.700 CausalMutation CLINVAR