HMCN1, hemicentin 1, 83872

N. diseases: 28; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17531405
rs17531405
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2057388
rs2057388
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2146098
rs2146098
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C0042834
Disease:
Vital capacity 		A 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
dbSNP: rs16824658
rs16824658
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C0008350
Disease:
Cholelithiasis 		0.700 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509 2007
dbSNP: rs16824658
rs16824658
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C0947622
Disease:
Cholecystolithiasis 		0.700 GeneticVariation GWASDB A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease. 17632509 2007
dbSNP: rs121434382
rs121434382
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C1864205
Disease:
Macular Degeneration, Age-Related, 1 		0.700 GeneticVariation UNIPROT Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family. 14570714 2003
dbSNP: rs121434382
rs121434382
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C4017162
Disease:
MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO 		G 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs879255520
rs879255520
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C1864205
Disease:
Macular Degeneration, Age-Related, 1 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121434382
rs121434382
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C0242383
Disease:
Age related macular degeneration 		0.050 GeneticVariation BEFREE Interestingly, the HMCN1 p.Gln5346Arg mutation, which is thought to be a causal mutation in a large AMD pedigree segregating the disease as a single-gene trait, appears to occur in our control cohort as a low-frequency polymorphism with an allele frequency of approximately 0.0026. 17216616 2007
dbSNP: rs121434382
rs121434382
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C0242383
Disease:
Age related macular degeneration 		0.050 GeneticVariation BEFREE Earlier a Gln5345Arg variant in the hemicentin 1 (HMCN1) gene was reported in a large AMD family in the United States. 16885922 2006
dbSNP: rs121434382
rs121434382
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C0242383
Disease:
Age related macular degeneration 		0.050 GeneticVariation BEFREE Previously, a Gln5345Arg mutation in HEMICENTIN-1 was found to segregate with AMD in a large family. 16020313 2005
dbSNP: rs121434382
rs121434382
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C0242383
Disease:
Age related macular degeneration 		0.050 GeneticVariation BEFREE A recently identified Gln5345Arg change in HEMICENTIN-1 on chromosome 1q25 was not detected in 274 affected members in the restricted group with AMD, 346 additional patients with AMD, and 237 unaffected controls. 14968411 2004
dbSNP: rs121434382
rs121434382
Entrez Id: 83872
Gene Symbol: HMCN1
HMCN1
CUI: C0242383
Disease:
Age related macular degeneration 		0.050 GeneticVariation BEFREE A rapid diagnostic assay will facilitate a reliable and convenient evaluation of the frequency of the Gln5345Arg mutation and its association with AMD within other populations. 15467524 2004