SET, SET nuclear proto-oncogene, 6418

N. diseases: 183; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554776500
rs1554776500
Entrez Id: 6418
Gene Symbol: SET
SET
CUI: C4748195
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		0.800 GeneticVariation UNIPROT De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability. 29688601 2018
dbSNP: rs1554776500
rs1554776500
Entrez Id: 6418
Gene Symbol: SET
SET
CUI: C4748195
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		0.800 GeneticVariation UNIPROT De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs1554776500
rs1554776500
Entrez Id: 6418
Gene Symbol: SET
SET
CUI: C4748195
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1554776342
rs1554776342
Entrez Id: 6418
Gene Symbol: SET
SET
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Zinc Finger and X-Linked Factor (ZFX) Binds to Human SET Transcript 2 Promoter and Transactivates SET Expression. 27775603 2016
dbSNP: rs1554776342
rs1554776342
Entrez Id: 6418
Gene Symbol: SET
SET
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR De novo mutations in moderate or severe intellectual disability. 25356899 2014
dbSNP: rs1554776342
rs1554776342
Entrez Id: 6418
Gene Symbol: SET
SET
CUI: C0026827
Disease:
Muscle hypotonia 		T 0.700 CausalMutation CLINVAR Identification and characterization of SEB, a novel protein that binds to the acute undifferentiated leukemia-associated protein SET. 11231286 2001
dbSNP: rs1554776342
rs1554776342
Entrez Id: 6418
Gene Symbol: SET
SET
CUI: C4748195
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1554776933
rs1554776933
Entrez Id: 6418
Gene Symbol: SET
SET
CUI: C4748195
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		TTA 0.700 CausalMutation CLINVAR
dbSNP: rs1554776938
rs1554776938
Entrez Id: 6418
Gene Symbol: SET
SET
CUI: C4748195
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1564360978
rs1564360978
Entrez Id: 6418
Gene Symbol: SET
SET
CUI: C4748195
Disease:
MENTAL RETARDATION, AUTOSOMAL DOMINANT 58 		T 0.700 CausalMutation CLINVAR