ASIP, agouti signaling protein, 434

N. diseases: 89; N. variants: 26
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma
0.380 GeneticVariation disease BEFREE Our data showed an increased risk of melanoma (odds ratio [OR] 1.27, 95% confidence interval [95% CI] 1.03-1.57) in carriers of the rs4911414 variant, located 120 kb upstream of ASIP. 22628150 2013
CUI: C0025202
Disease: melanoma
melanoma
0.380 Biomarker disease BEFREE Few high penetrance genes are known in Malignant Melanoma (MM), however, the involvement of low-penetrance genes such as MC1R, OCA2, ASIP, SLC45A2 and TYR has been observed. 23537197 2013
CUI: C0025202
Disease: melanoma
melanoma
0.380 GeneticVariation disease BEFREE Eight loci were identified in the main meta-analyses as being associated with a risk of CM (P < .05) of which four loci showed a genome-wide statistically significant association (P < 1 × 10(-7)), including 16q24.3 (MC1R), 20q11.22 (MYH7B/PIGU/ASIP), 11q14.3 (TYR), and 5p13.2 (SLC45A2). 21693730 2011
CUI: C0025202
Disease: melanoma
melanoma
0.380 Biomarker disease CTD_human In this discovery phase, we confirm several previously characterized melanoma-associated loci at MC1R, ASIP and MTAP-CDKN2A. 21983785 2011
CUI: C0025202
Disease: melanoma
melanoma
0.380 GeneticVariation disease BEFREE The haplotype near ASIP (rs4911414[T] and rs1015362[G]) was significantly associated with fair skin color (OR, 2.28; 95% CI, 1.46-3.57) as well as the risks of melanoma (OR, 1.68; 95% CI, 1.18-2.39) and SCC (OR, 1.54; 95% CI, 1.08-2.19). 19384953 2009
CUI: C0025202
Disease: melanoma
melanoma
0.380 Biomarker disease CTD_human A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)). 18488027 2008
CUI: C0025202
Disease: melanoma
melanoma
0.380 GeneticVariation disease LHGDN A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)). 18488027 2008
CUI: C0025202
Disease: melanoma
melanoma
0.380 GeneticVariation disease BEFREE A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)). 18488027 2008
CUI: C0025202
Disease: melanoma
melanoma
0.380 Biomarker disease CTD_human Gray horses carrying a loss-of-function mutation in ASIP (agouti signaling protein) had a higher incidence of melanoma, implying that increased melanocortin-1 receptor signaling promotes melanoma development in Gray horses. 18641652 2008
CUI: C0025202
Disease: melanoma
melanoma
0.380 GeneticVariation disease BEFREE Gray horses carrying a loss-of-function mutation in ASIP (agouti signaling protein) had a higher incidence of melanoma, implying that increased melanocortin-1 receptor signaling promotes melanoma development in Gray horses. 18641652 2008
CUI: C0025202
Disease: melanoma
melanoma
0.380 GeneticVariation disease BEFREE We examined MC1R and ASIP genotypes in relation to phenotypic characteristics, sporadic and familial melanoma risk, and melanoma thickness as an indicator of disease progression in a Mediterranean population. 15998953 2005
CUI: C0025202
Disease: melanoma
melanoma
0.380 GeneticVariation disease BEFREE We sought to characterize the agouti signaling protein gene (ASIP) in a group of white subjects, to assess whether ASIP was a determinant of human pigmentation and whether this gene may be associated with increased melanoma risk. 11833005 2002
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.320 GeneticVariation disease BEFREE The OCA2 Arg419Gln and ASIP g.8818 A>G were associated with BCC risk (OR, 1.50; 95% CI, 1.06-2.13 and OR, 0.73; 95% CI, 0.53-1.00, respectively). 19384953 2009
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.320 GeneticVariation disease BEFREE A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)). 18488027 2008
CUI: C4721806
Disease: Carcinoma, Basal Cell
Carcinoma, Basal Cell
0.320 Biomarker disease CTD_human A haplotype near ASIP, known to affect a similar spectrum of pigmentation traits as MC1R variants, conferred significant risk of CM (odds ratio (OR) = 1.45, P = 1.2 x 10(-9)) and BCC (OR = 1.33, P = 1.2 x 10(-6)). 18488027 2008
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.310 Biomarker disease BEFREE We evaluated the associations between 15 SNPs in 8 candidate pigmentation genes (TYR, TYRP1, OCA2, SLC24A5, SLC45A2, POMC, ASIP and ATRN) and both pigmentary phenotypes (hair color, skin color and tanning ability) and skin cancer risk in a nested case-control study of Caucasians within the Nurses' Health Study (NHS) among 218 melanoma cases, 285 squamous cell carcinoma (SCC) cases, 300 basal cell carcinoma (BCC) cases and 870 common controls. 19384953 2009
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin
0.310 Biomarker disease CTD_human ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. 18488027 2008
CUI: C0037286
Disease: Skin Neoplasms
Skin Neoplasms
0.300 Biomarker group CTD_human ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. 18488027 2008
CUI: C1368275
Disease: Pigmented Basal Cell Carcinoma
Pigmented Basal Cell Carcinoma
0.300 Biomarker disease CTD_human ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. 18488027 2008
CUI: C0028754
Disease: Obesity
Obesity
0.230 Biomarker disease BEFREE Agouti signaling protein (ASP) is a secreted paracrine protein that has been widely reported to function in melanogenesis and obesity and could potentially be a core protein that regulates the color and fatty phenotype of P. sinensis. 31794826 2019
CUI: C0028754
Disease: Obesity
Obesity
0.230 Biomarker disease CTD_mouse Impact of obesity on 7,12-dimethylbenz[a]anthracene-induced altered ovarian connexin gap junction proteins in female mice. 25447408 2015
CUI: C0028754
Disease: Obesity
Obesity
0.230 Biomarker disease CTD_mouse Enhanced susceptibility of ovaries from obese mice to 7,12-dimethylbenz[a]anthracene-induced DNA damage. 25448685 2014
CUI: C0028754
Disease: Obesity
Obesity
0.230 Biomarker disease MGD Disruption of the RIIbeta subunit of PKA reverses the obesity syndrome of Agouti lethal yellow mice. 18172198 2008
CUI: C0028754
Disease: Obesity
Obesity
0.230 Biomarker disease MGD Germ-line epigenetic modification of the murine A vy allele by nutritional supplementation. 17101998 2006
CUI: C0028754
Disease: Obesity
Obesity
0.230 AlteredExpression disease BEFREE Mahoganoid effects on energy homeostasis are, therefore, most evident in the circumstances of epistasis to hypothalamic overexpression of ASP in A(y) and possible other obesity-causing mutations. 12438443 2002