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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Metabolism, Inborn Errors (D008661)
..Starting node ..Coumarin Resistance (C563039)
Child Nodes:
Sister Nodes:
..3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency (C567784)
..3-Hydroxyacyl-CoA Dehydrogenase Deficiency (C535310)
..3-Methylglutaconic Aciduria (C579867)
..3-Methylglutaconic Aciduria Type IV (C565393)
..3-Methylglutaconic Aciduria, Type I (C562801)
..3-Methylglutaconic Aciduria, Type V (C565706)
..5-Nucleotidase syndrome (C535321)
..6-Phosphogluconolactonase Deficiency (C566803)
..Acetylcarnitine deficiency (C536006)
..Acholinesterasemia (C566750)
..Acid Phosphatase Deficiency (C562645)
..Adenine phosphoribosyltransferase deficiency (C538228)
..AICAR TRANSFORMYLASE/IMP CYCLOHYDROLASE DEFICIENCY (OMIM:608688)
..alpha-Fetoprotein Deficiency (C566300)
..Amino Acid Metabolism, Inborn Errors (D000592) 169
..Amino Acid Transport Disorders, Inborn (D020157) 3
..Amobarbital, Deficient N-Hydroxylation of (C565959)
..Amyloidosis, Familial (D028226) 13
..Arene Oxide Detoxification Defect (C565043)
..Aromatase deficiency (C537436)
..Aryl Hydrocarbon Hydroxylase Inducibility (C566250)
..BISPHOSPHOGLYCERATE MUTASE DEFICIENCY (OMIM:222800)
..Brain Diseases, Metabolic, Inborn (D020739) 218
..Butyrylcholinesterase deficiency (C537417)
..Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type (C566751)
..Carbohydrate Metabolism, Inborn Errors (D002239) 169
..Carnitine Acetyltransferase Deficiency (C563249)
..Carnitine palmitoyl transferase 2 deficiency (C535589)
..Chromate Resistance (C566125)
..COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
..Combined Malonic and Methylmalonic Aciduria (C580002)
..Combined Oxidative Phosphorylation Deficiency 1 (C563797)
..Combined Oxidative Phosphorylation Deficiency 4 (C565690)
..Combined Oxidative Phosphorylation Deficiency 5 (C567126)
..Congenital chloride diarrhea (C536210)
..Copper deficiency, familial benign (C535468)
..Costeff optic atrophy syndrome (C535311)
..Coumarin Resistance (C563039)
..Coumarin Sensitivity (C567276)
..CREATINE PHOSPHOKINASE, ELEVATED SERUM (OMIM:123320)
..Cytochrome-c Oxidase Deficiency (D030401) 2
..Deafness hyperuricemia neurologic ataxia (C535995)
..Deoxyribose-5-Phosphate Aldolase Deficiency (C565112)
..Diarrhea 3, Secretory Sodium, Congenital (C562576)
..Diarrhea 3, Secretory Sodium, Congenital, Syndromic (C567490)
..Diarrhea, Glucose-Stimulated Secretory, with Common Variable Immunodeficiency (C565099)
..Dihydropyrimidinase Deficiency (C562815)
..Diphenylhydantoin, Defect in Hydroxylation of (C565044)
..Drug Metabolism, Poor, CYP2C19-Related (C563703)
..Drug Metabolism, Poor, CYP2D6-Related (C563835)
..Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency (C562657)
..Enterokinase Deficiency (C562649)
..Ethanolaminosis (C562651)
..Familial gynecomastia, due to increased aromatase activity (C000591739)
..Finnish lethal neonatal metabolic syndrome (C537934)
..Fumaric aciduria (C538191)
..Glucocorticoid Receptor Deficiency (C564221)
..Glutamate formiminotransferase deficiency (C537425)
..Glycoprotein Storage Disease (C565538)
..Glyoxalase II Deficiency (C564215)
..Growth Factors, Combined Defect of (C565529)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY (OMIM:613470)
..HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO HEXOKINASE DEFICIENCY (OMIM:235700)
..Hyaluronan Metabolism, Defect in (C565742)
..Hyperbilirubinemia, Hereditary (D006933) 7
..Hypercalcemia, Idiopathic, of Infancy (C562581)
..HYPERCHLORHIDROSIS, ISOLATED (OMIM:143860)
..Hypoadiponectinemia (C567258)
..Hypokalemia, Familial (C562654)
..Hypoproteinemia, Hypercatabolic (C565476)
..Inosine Triphosphatase Deficiency (C564127)
..Intrinsic Factor and R Binder, Combined Congenital Deficiency of (C565461)
..Kallikrein, Decreased Urinary Activity of (C563653)
..L-Gulonolactone Oxidase, Nonfunctional (C565486)
..Lactate Dehydrogenase B Deficiency (C563641)
..Lactic Aciduria due to D-Lactic Acid (C565446)
..Leukotriene C4 Synthase Deficiency (C565439)
..Lipid Metabolism, Inborn Errors (D008052) 135
..LONG-CHAIN 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY (OMIM:609016)
..Lysosomal Storage Diseases (D016464) 106
..Malonic aciduria (C535702)
..Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type (C563601)
..Mannose-Binding Protein Deficiency (C563602)
..Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency (C566566)
..Metal Metabolism, Inborn Errors (D008664) 55
..Methemoglobin Reductase Deficiency (C563171)
..Methylcobalamin Deficiency, CblG Type (C565394)
..Methylmalonyl-Coenzyme A mutase deficiency (C537573)
..Mitochondrial Complex II Deficiency (C565375)
..Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, With Methylmalonic Aciduria, Autosomal Recessive (C567624)
..Myeloperoxidase Deficiency (C562864)
..N acetyltransferase deficiency (C536107)
..Pancreatic Insufficiency, Combined Exocrine (C564907)
..Peroxisomal Disorders (D018901) 39
..Phenacetin O-Deethylase, Deficiency of (C565127)
..Phenol sulfotransferase deficiency (C537895)
..Phosphoglycerate Kinase 1 Deficiency (C567067)
..Porphyrias (D011164) 18
..Progeria (D011371) 11
..Proguanil, Poor Metabolism of (C563704)
..Purine-Pyrimidine Metabolism, Inborn Errors (D011686) 24
..Renal Tubular Transport, Inborn Errors (D015499) 76
..Retinol-Binding Protein Deficiency (C566711)
..Steroid Metabolism, Inborn Errors (D043202) 34
..Stomatocytosis I (C566111)
..Stomatocytosis II (C566110)
..Succinic Acidemia (C563952)
..THYROTROPIN-RELEASING HORMONE DEFICIENCY (OMIM:275120)
..Transcobalamin I Deficiency (C562798)
..Trimethylaminuria (C536561)
..Warfarin Sensitivity (C567080)
..Weinstein Kliman Scully syndrome (C536688)
..Wiedemann Oldigs Oppermann syndrome (C536705)
..Xanthinuria, Type I (C562584)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2790

Name:

Coumarin Resistance

Definition:

Alternative IDs:

OMIM:122700

ParentIDs:

MESH:D008661

TreeNumbers:

C16.320.565/C563039 |C18.452.648/C563039

Synonyms:

Coumarin, Poor Metabolism Of |Warfarin Resistance |WARFARIN RESISTANCE COUMARIN SENSITIVITY, INCLUDED |WARFARIN SENSITIVITY, INCLUDED

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C563039
MeSH: C563039
OMIM: 122700;

Genes: CYP2A6; CYP2C9; F9; VKORC1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001871	Abnormality of blood and blood-forming tissues
3	HP:0001939	Abnormality of metabolism/homeostasis

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
CYP2A6*12A	-1	-	drug response	-1	RCV000018494; RCV000018493;	N	; MedGen:CN078029,OMIM:122700	19	41354669	41387493	-	-		OMIM Allelic Variant:122720.0005,dbVar:nssv7487206,dbVar:nsv1197569	CN078029 122700 Warfarin response
NM_000762.5(CYP2A6):c.479T>A (p.Leu160His)	1548	CYP2A6	drug response	1801272	RCV000018483; RCV000018482;	N	MedGen:C1852516; MedGen:CN078029,OMIM:122700	19	41354533	41354533	NM_000762.5:c.479T>A	NP_000753.3:p.Leu160His	NC_000019.9:g.41354533A>T	OMIM Allelic Variant:122720.0001	C1852516 Nicotine, poor metabolism of; CN078029 122700 Warfarin response
NM_000771.3(CYP2C9):c.430C>T (p.Arg144Cys)	1559	CYP2C9	drug response	1799853	RCV000008920; RCV000211223; RCV000154312;	Y	MedGen:CN078029,OMIM:122700; MedGen:CN236549	10	96702047	96702047	NM_000771.3:c.430C>T	NP_000762.2:p.Arg144Cys	NC_000010.10:g.96702047Cx3d,NC_000010.10:g.96702047C>T	OMIM Allelic Variant:601130.0002,PharmGKB Clinical Annotation:637879781,PharmGKB:637879781	CN078029 122700 Warfarin response; CN236549 warfarin response - Dosage
NM_000771.3(CYP2C9):c.430C>T (p.Arg144Cys)	1559	CYP2C9	drug response	1799853	RCV000008920; RCV000211223; RCV000154312;	Y	MedGen:CN078029,OMIM:122700; MedGen:CN236549	10	96702047	96702047	NM_000771.3:c.430C>T	NP_000762.2:p.Arg144Cys	NC_000010.10:g.96702047Cx3d,NC_000010.10:g.96702047C>T	OMIM Allelic Variant:601130.0002,PharmGKB Clinical Annotation:637879781,PharmGKB:637879781	CN078029 122700 Warfarin response; CN236549 warfarin response - Dosage
NM_000771.3(CYP2C9):c.430C= (p.Arg144=)	1559	CYP2C9	drug response	1799853	RCV000150377; RCV000150378;	N	MedGen:CN078029,OMIM:122700	10	96702047	96702047	NM_000771.3:c.430C=	NP_000762.2:p.Arg144=	NC_000010.10:g.96702047Cx3d,NC_000010.10:g.96702047C>T	-	CN078029 122700 Warfarin response
NM_000771.3(CYP2C9):c.430C= (p.Arg144=)	1559	CYP2C9	drug response	1799853	RCV000150377; RCV000150378;	N	MedGen:CN078029,OMIM:122700	10	96702047	96702047	NM_000771.3:c.430C=	NP_000762.2:p.Arg144=	NC_000010.10:g.96702047Cx3d,NC_000010.10:g.96702047C>T	-	CN236458 acenocoumarol response - Dosage, Toxicity/ADR; CN236461 Antiinflammatory agents, non-steroids response - Toxicity/ADR; CN236497 celecoxib response - Dosage; CN236498 celecoxib response - Toxicity/ADR; CN236524 diclofenac response - Toxicity
NM_000771.3(CYP2C9):c.622T>G (p.Leu208Val)	1559	CYP2C9	Pathogenic	72558191	RCV000008921;	N	MedGen:CN078029,OMIM:122700	10	96707676	96707676	NM_000771.3:c.622T>G	NP_000762.2:p.Leu208Val	NC_000010.10:g.96707676T>G	OMIM Allelic Variant:601130.0003	CN078029 122700 Warfarin response
NM_000771.3(CYP2C9):c.1075A>C (p.Ile359Leu)	1559	CYP2C9	drug response	1057910	RCV000008916; RCV000008919; RCV000008917; RCV000008918; RCV000211403; RCV000211342; RCV000211164; RCV000211251; RCV000211339; RCV000211161; RCV000150378;	Y	MedGen:C1832730; MedGen:C4016718; MedGen:CN069167; MedGen:CN078029,OMIM:122700; MedGen:CN236458; MedGen:CN236461; MedGen:CN236497; MedGen:CN236498; MedGen:CN236524; MedGen:CN236547	10	96741053	96741053	NM_000771.3:c.1075A>C	NP_000762.2:p.Ile359Leu	NC_000010.10:g.96741053Ax3d,NC_000010.10:g.96741053A>C	OMIM Allelic Variant:601130.0001,PharmGKB Clinical Annotation:655384720,PharmGKB Clinical Annotation:769181841,PharmGKB Clinical Annotation:827862258,Pha	CN236458 acenocoumarol response - Dosage, Toxicity/ADR; CN236461 Antiinflammatory agents, non-steroids response - Toxicity/ADR; CN236497 celecoxib response - Dosage; CN236498 celecoxib response - Toxicity/ADR; CN236524 diclofenac response - Toxicity
NM_000771.3(CYP2C9):c.1075A>C (p.Ile359Leu)	1559	CYP2C9	drug response	1057910	RCV000008916; RCV000008919; RCV000008917; RCV000008918; RCV000211403; RCV000211342; RCV000211164; RCV000211251; RCV000211339; RCV000211161; RCV000150378;	Y	MedGen:C1832730; MedGen:C4016718; MedGen:CN069167; MedGen:CN078029,OMIM:122700; MedGen:CN236458; MedGen:CN236461; MedGen:CN236497; MedGen:CN236498; MedGen:CN236524; MedGen:CN236547	10	96741053	96741053	NM_000771.3:c.1075A>C	NP_000762.2:p.Ile359Leu	NC_000010.10:g.96741053Ax3d,NC_000010.10:g.96741053A>C	OMIM Allelic Variant:601130.0001,PharmGKB Clinical Annotation:655384720,PharmGKB Clinical Annotation:769181841,PharmGKB Clinical Annotation:827862258,Pha	CN236458 acenocoumarol response - Dosage, Toxicity/ADR; CN236461 Antiinflammatory agents, non-steroids response - Toxicity/ADR; CN236497 celecoxib response - Dosage; CN236498 celecoxib response - Toxicity/ADR; CN236524 diclofenac response - Toxicity
NM_000771.3(CYP2C9):c.1075A= (p.Ile359=)	1559	CYP2C9	drug response	1057910	RCV000150377; RCV000154312;	N	MedGen:CN078029,OMIM:122700	10	96741053	96741053	NM_000771.3:c.1075A=	NP_000762.2:p.Ile359=	NC_000010.10:g.96741053Ax3d,NC_000010.10:g.96741053A>C	-	CN078029 122700 Warfarin response
NM_000771.3(CYP2C9):c.1075A= (p.Ile359=)	1559	CYP2C9	drug response	1057910	RCV000150377; RCV000154312;	N	MedGen:CN078029,OMIM:122700	10	96741053	96741053	NM_000771.3:c.1075A=	NP_000762.2:p.Ile359=	NC_000010.10:g.96741053Ax3d,NC_000010.10:g.96741053A>C	-	CN078029 122700 Warfarin response; CN236549 warfarin response - Dosage
NM_024006.5(VKORC1):c.383T>G (p.Leu128Arg)	79001	VKORC1	Pathogenic	104894542	RCV000002294;	N	MedGen:CN078029,OMIM:122700	16	31102564	31102564	NM_024006.5:c.383T>G	NP_076869.1:p.Leu128Arg	NC_000016.9:g.31102564A>C	OMIM Allelic Variant:608547.0005	CN078029 122700 Warfarin response
NM_024006.5(VKORC1):c.174-136C>T	79001	VKORC1	drug response	9934438	RCV000054531; RCV000211147; RCV000211320; RCV000211275;	N	MedGen:CN078029,OMIM:122700; MedGen:CN236457; MedGen:CN236542; MedGen:CN236549	16	31104878	31104878	NM_024006.5:c.174-136C>T		NC_000016.9:g.31104878G>A	OMIM Allelic Variant:608547.0008,PharmGKB Clinical Annotation:1183704228,PharmGKB Clinical Annotation:655385392,PharmGKB:1183704228,PharmGKB:655385392	CN236457 acenocoumarol response - Dosage; CN236542 phenprocoumon response - Dosage; CN078029 122700 Warfarin response; CN236549 warfarin response - Dosage
NM_024006.5(VKORC1):c.172A>G (p.Arg58Gly)	79001	VKORC1	Pathogenic	104894541	RCV000002293;	N	MedGen:CN078029,OMIM:122700	16	31105879	31105879	NM_024006.5:c.172A>G	NP_076869.1:p.Arg58Gly	NC_000016.9:g.31105879T>C	OMIM Allelic Variant:608547.0004	CN078029 122700 Warfarin response
NM_024006.5(VKORC1):c.134T>C (p.Val45Ala)	79001	VKORC1	Pathogenic	104894540	RCV000002292;	N	MedGen:CN078029,OMIM:122700	16	31105917	31105917	NM_024006.5:c.134T>C	NP_076869.1:p.Val45Ala	NC_000016.9:g.31105917A>G	OMIM Allelic Variant:608547.0003	CN078029 122700 Warfarin response
NM_024006.5(VKORC1):c.106G>T (p.Asp36Tyr)	79001	VKORC1	drug response	61742245	RCV000002296; RCV000211202;	N	MedGen:CN078029,OMIM:122700; MedGen:CN236549	16	31105945	31105945	NM_024006.5:c.106G>T	NP_076869.1:p.Asp36Tyr	NC_000016.9:g.31105945C>A	OMIM Allelic Variant:608547.0007,PharmGKB Clinical Annotation:1183703748,PharmGKB:1183703748	CN078029 122700 Warfarin response; CN236549 warfarin response - Dosage
NM_024006.5(VKORC1):c.85G>T (p.Val29Leu)	79001	VKORC1	Pathogenic	104894539	RCV000002291;	N	MedGen:CN078029,OMIM:122700	16	31105966	31105966	NM_024006.5:c.85G>T	NP_076869.1:p.Val29Leu	NC_000016.9:g.31105966C>A	OMIM Allelic Variant:608547.0002	CN078029 122700 Warfarin response
NM_024006.5(VKORC1):c.-1588dupG	79001	VKORC1	drug response	397509427	RCV000054486;	N	MedGen:CN078029,OMIM:122700	16	31107638	31107638	NM_024006.5:c.-1588dupG		NC_000016.9:g.31107638dupC	-	CN078029 122700 Warfarin response
NM_024006.4(VKORC1):c.-1639G>A	79001	VKORC1	drug response	9923231	RCV000002295;	Y	MedGen:CN078029,OMIM:122700	16	31107689	31107689	NM_024006.5:c.-1639G>A		NC_000016.9:g.31107689Cx3d,NC_000016.9:g.31107689C>T	OMIM Allelic Variant:608547.0006	CN078029 122700 Warfarin response
NM_024006.5(VKORC1):c.-1639G=	79001	VKORC1	drug response	9923231	RCV000152659;	N	MedGen:CN078029,OMIM:122700	16	31107689	31107689	NM_024006.5:c.-1639G=		NC_000016.9:g.31107689Cx3d,NC_000016.9:g.31107689C>T	-	CN078029 122700 Warfarin response