NHLRC2, NHL repeat containing 2, 374354

N. diseases: 37; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201701259
rs201701259
Entrez Id: 374354
Gene Symbol: NHLRC2
NHLRC2
CUI: C4748939
Disease:
FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS 		0.810 GeneticVariation UNIPROT NHLRC2 variants identified in patients with fibrosis, neurodegeneration, and cerebral angiomatosis (FINCA): characterisation of a novel cerebropulmonary disease. 29423877 2018
dbSNP: rs201701259
rs201701259
Entrez Id: 374354
Gene Symbol: NHLRC2
NHLRC2
CUI: C4748939
Disease:
FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS 		0.810 GeneticVariation BEFREE Mutations of NHLRC2, including Asp148Tyr, have been recently associated with a novel FINCA disease (fibrosis, neurodegeneration, cerebral angiomatosis), which is fatal in early childhood. 30138417 2018
dbSNP: rs201701259
rs201701259
Entrez Id: 374354
Gene Symbol: NHLRC2
NHLRC2
CUI: C4748939
Disease:
FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS 		T 0.810 CausalMutation CLINVAR
dbSNP: rs757267294
rs757267294
Entrez Id: 374354
Gene Symbol: NHLRC2
NHLRC2
CUI: C4748939
Disease:
FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS 		C 0.700 CausalMutation CLINVAR
dbSNP: rs201701259
rs201701259
Entrez Id: 374354
Gene Symbol: NHLRC2
NHLRC2
CUI: C0002992
Disease:
Angiomatosis 		0.010 GeneticVariation BEFREE Mutations of NHLRC2, including Asp148Tyr, have been recently associated with a novel FINCA disease (fibrosis, neurodegeneration, cerebral angiomatosis), which is fatal in early childhood. 30138417 2018