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: C2673200
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 9 (disorder) 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0028754
Disease: Obesity
Obesity 		0.230 Biomarker disease CTD_mouse Molecular characterization of the mouse agouti locus. 1473152 1992
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.210 Biomarker group CTD_mouse Molecular characterization of the mouse agouti locus. 1473152 1992
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.210 Biomarker group CTD_mouse Molecular characterization of the mouse agouti locus. 1473152 1992
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.200 Biomarker group CTD_mouse Molecular characterization of the mouse agouti locus. 1473152 1992
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		0.200 Biomarker group CTD_mouse Molecular characterization of the mouse agouti locus. 1473152 1992
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.200 Biomarker disease MGD General survey of diabetic features of yellow KK mice. 5468422 1970
CUI: C0028754
Disease: Obesity
Obesity 		0.230 Biomarker disease MGD Mutations at the agouti locus in the mouse. 5798139 1969
CUI: C0342276
Disease: Maturity onset diabetes mellitus in young
Maturity onset diabetes mellitus in young 		0.010 GeneticVariation disease BEFREE The localization of ASP relative to other loci on chromosome 20 excludes it as a candidate for the MODY1 locus, a gene responsible for one form of early-onset non-insulin-dependent diabetes mellitus or maturity-onset diabetes of the young. 7757071 1995
CUI: C0028754
Disease: Obesity
Obesity 		0.230 Biomarker disease CTD_mouse A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (Ay) mutation. 8146154 1994
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.200 Biomarker disease CTD_mouse A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (Ay) mutation. 8146154 1994
CUI: C0022283
Disease: Incontinentia Pigmenti Achromians
Incontinentia Pigmenti Achromians 		0.200 Biomarker disease CTD_mouse A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (Ay) mutation. 8146154 1994
CUI: C0036305
Disease: Schamberg Disease
Schamberg Disease 		0.200 Biomarker phenotype CTD_mouse A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (Ay) mutation. 8146154 1994
CUI: C0549567
Disease: Pigmentation Disorders
Pigmentation Disorders 		0.200 Biomarker group CTD_mouse A molecular model for the genetic and phenotypic characteristics of the mouse lethal yellow (Ay) mutation. 8146154 1994
CUI: C0231341
Disease: Premature aging syndrome
Premature aging syndrome 		0.010 GeneticVariation disease BEFREE Extensive fragmentation of mtDNA was detected in association with increased 8-hydroxydeoxyguanosine content in the heart mitochondrial DNA (mtDNA) from a patient with premature aging and mitochondrial cardiomyopathy, who carried a mutation within the mitochondrial tRNA(Asp) gene. 8687011 1996
CUI: C3532239
Disease: Mitochondrial cardiomyopathy
Mitochondrial cardiomyopathy 		0.010 GeneticVariation disease BEFREE Extensive fragmentation of mtDNA was detected in association with increased 8-hydroxydeoxyguanosine content in the heart mitochondrial DNA (mtDNA) from a patient with premature aging and mitochondrial cardiomyopathy, who carried a mutation within the mitochondrial tRNA(Asp) gene. 8687011 1996
CUI: C0009730
Disease: Spinal meningocele
Spinal meningocele 		0.010 Biomarker disease BEFREE Most frequently the presacral mass in ASP-association was reported to be an anterior meningocele (47%) and a benign teratoma (40%). 8740138 1996
CUI: C0011649
Disease: Dermoid Cyst
Dermoid Cyst 		0.010 Biomarker disease BEFREE Most frequently the presacral mass in ASP-association was reported to be an anterior meningocele (47%) and a benign teratoma (40%). 8740138 1996
CUI: C0025299
Disease: Meningocele
Meningocele 		0.010 Biomarker disease BEFREE Most frequently the presacral mass in ASP-association was reported to be an anterior meningocele (47%) and a benign teratoma (40%). 8740138 1996
CUI: C1261470
Disease: Congenital meningocele
Congenital meningocele 		0.010 Biomarker disease BEFREE Most frequently the presacral mass in ASP-association was reported to be an anterior meningocele (47%) and a benign teratoma (40%). 8740138 1996
CUI: C1879828
Disease: Benign Teratoma
Benign Teratoma 		0.010 Biomarker disease BEFREE Most frequently the presacral mass in ASP-association was reported to be an anterior meningocele (47%) and a benign teratoma (40%). 8740138 1996
CUI: C0028754
Disease: Obesity
Obesity 		0.230 Biomarker disease BEFREE Variation in the human counterparts to these genes (OB, DB, TUB, and ASP, respectively) may contribute to human obesity, which is thought to have a substantial genetic component. 8772727 1996
CUI: C0023418
Disease: leukemia
leukemia 		0.020 Biomarker disease BEFREE The expression was compared between different types of leukemia and was studied in relation with clinical risk indicators and in vitro cytotoxicity of the MDR-related drugs daunorubicin (DNR), vincristine (VCR), and etoposide (VP16) and the non-MDR-related drugs prednisolone (PRD) and L-asparaginase (ASP). 9490695 1998
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		0.020 Biomarker disease BEFREE The expression was compared between different types of leukemia and was studied in relation with clinical risk indicators and in vitro cytotoxicity of the MDR-related drugs daunorubicin (DNR), vincristine (VCR), and etoposide (VP16) and the non-MDR-related drugs prednisolone (PRD) and L-asparaginase (ASP). 9490695 1998
CUI: C0233523
Disease: Antisocial behavior
Antisocial behavior 		0.010 Biomarker phenotype BEFREE We investigated 56 abstinent patients hypothesizing that four subgroups of abstinent alcoholics with regard to family history (FHP: family history positive, FHN: family history negative) and antisocial behavior (ASP: antisocial traits present, ASN: antisocial traits not present) would exhibit differences in P300, particularly when recorded by frontal electrodes. 10085279 1999