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: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.060 Biomarker disease BEFREE In conclusion, the presence of TEL/AML1 gene fusion in childhood precursor B-lineage ALL does not seem to be associated with a high in vitro drug sensitivity, except for ASP, indicating that these patients could benefit from treatment schedules with significant use of this drug. 10910927 2000
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.020 GeneticVariation disease BEFREE The data most supportive for linkage to schizophrenia were from chromosome 6q; logistic-regression analysis of linkage allowing for intersample heterogeneity produced an empirical P value <.0002 with, or P=.0004 without, inclusion of the sample that produced the first positive report in this region; the maximum NPL score in this region was 2.47 (P=.0046), the maximum LOD score (MLS) from ASP analysis was 3.10 (empirical P=.0036), and there was significant evidence for intersample heterogeneity (empirical P=.0038). 10924404 2000
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: 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
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.060 GeneticVariation disease BEFREE Thrombotic events (TEs) are serious secondary complications in children with acute lymphoblastic leukemia (ALL) who receive L-asparaginase (ASP) therapy; however, the prevalence of TEs has not been established. 12518376 2003
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.060 GeneticVariation disease BEFREE Thrombotic events (TEs) are serious secondary complications in children with acute lymphoblastic leukemia (ALL) who receive L-asparaginase (ASP) therapy; however, the prevalence of TEs has not been established. 12518376 2003
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.040 GeneticVariation disease BEFREE Thrombotic events (TEs) are serious secondary complications in children with acute lymphoblastic leukemia (ALL) who receive L-asparaginase (ASP) therapy; however, the prevalence of TEs has not been established. 12518376 2003
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.040 GeneticVariation disease BEFREE The release of [(3)H]D-aspartate ([(3)H]D-ASP) or [(3)H]GABA evoked by glycine from spinal cord synaptosomes was compared in mice expressing mutant human SOD1 with a Gly(93) Ala substitution ([SOD1-G93A(+)]), a transgenic model of amyotrophic lateral sclerosis, and in control mice. 12684256 2003
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 GeneticVariation disease BEFREE The protective genotype, present in 41% of controls, was less frequent in RA patients: 33% in the first sample, 24% in the ASP RA sample, and 11% in the linkage-derived subgroup. 14872483 2004
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.040 Biomarker disease BEFREE The release of [3H]D-aspartate ([3H]D-ASP) or [3H]GABA evoked by glycine and that of [3H]D-ASP or [3H]glycine evoked by GABA from spinal cord synaptosomes were studied in SOD1-G93A(+) mice, a transgenic model of amyotrophic lateral sclerosis, SOD1(+) mice and SOD1(-)/G93A(-) animals. 15033338 2004
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms 		0.200 Biomarker group CTD_mouse Liver-specific expression of the agouti gene in transgenic mice promotes liver carcinogenesis in the absence of obesity and diabetes. 15175105 2004
CUI: C0345904
Disease: Malignant neoplasm of liver
Malignant neoplasm of liver 		0.200 Biomarker disease CTD_mouse Liver-specific expression of the agouti gene in transgenic mice promotes liver carcinogenesis in the absence of obesity and diabetes. 15175105 2004
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.040 GeneticVariation disease BEFREE We studied the release of [3H]d-aspartate ([3H]d-ASP) and endogenous glutamate evoked by glycine (GLY) or GABA from spinal cord synaptosomes in mice expressing a mutant form of human SOD1 with a Gly93Ala substitution ([SOD1-G93A(+)]), a transgenic model of amyotrophic lateral sclerosis, in mice expressing the non-mutated form of human SOD1 [SOD1+], and in non-transgenic littermates [SOD1(-)/G93A(-)]. 15885796 2005
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: C1512419
Disease: Hereditary Melanoma
Hereditary Melanoma 		0.010 GeneticVariation disease BEFREE MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a Mediterranean population. 15998953 2005
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 GeneticVariation disease LHGDN The effect of isoforms of the cell polarity protein, human ASIP, on the cell cycle and Fas/FasL-mediated apoptosis in human hepatoma cells. 16091846 2005
CUI: C0279628
Disease: Adenocarcinoma Of Esophagus
Adenocarcinoma Of Esophagus 		0.010 AlteredExpression disease BEFREE Similar chimeric transcripts encoding portions of the MET oncogene and the BCAS3 gene also were overexpressed in EAs, suggesting that L1-5'ASP activation may occur at a broad level in primary EAs. 16320248 2006
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 Biomarker disease MGD Disruption of the RIIbeta subunit of PKA reverses the obesity syndrome of Agouti lethal yellow mice. 18172198 2008
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 GeneticVariation disease BEFREE We aimed to study whether single nucleotide polymorphisms (SNPs) of the MC1R and ASIP genes contribute to the pathogenesis of the polygenic pigment skin disorder, vitiligo. 18282185 2008
CUI: C1704421
Disease: Skin Pigmentation Disorder
Skin Pigmentation Disorder 		0.010 GeneticVariation group BEFREE We aimed to study whether single nucleotide polymorphisms (SNPs) of the MC1R and ASIP genes contribute to the pathogenesis of the polygenic pigment skin disorder, vitiligo. 18282185 2008
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 GeneticVariation disease BEFREE We aimed to study whether single nucleotide polymorphisms (SNPs) of the MC1R and ASIP genes contribute to the pathogenesis of the polygenic pigment skin disorder, vitiligo. 18282185 2008
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