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	wilson disease

Disease ID	12
Disease	wilson disease
Definition	A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.
Synonym	cerebral pseudoscleroses cerebral pseudosclerosis cerebral pseudosclerosis (disorder) copper storage disease degeneration, hepatocerebral degeneration, hepatolenticular degeneration, neurohepatic degeneration, progressive lenticular degenerations, hepatocerebral degenerations, neurohepatic disease wilson disease wilson's disease wilsons diseases wilson diseases, hepato-neurologic wilson diseases, kinnier-wilson familial hepatitis gowers' chorea hepatic wilsons disease hepato neurologic wilson disease hepato-lenticular degeneration hepato-neurologic wilson disease hepato-neurologic wilson diseases hepatocerebral degeneration hepatocerebral degenerations hepatolenticular degeneration hepatolenticular degeneration [disease/finding] hepatolenticular degeneration syndrome hepatoneurologic wilson dis kinnier wilson dis kinnier wilson disease kinnier-wilson disease kinnier-wilson diseases lenticular degeneration, progressive neurohepatic degeneration neurohepatic degenerations progressive lenticular degeneration pseudoscleroses, cerebral pseudosclerosis pseudosclerosis, cerebral wd wd - wilson's disease westphal pseudosclerosis westphal strumpell disease westphal strumpell syndrome westphal-struempell pseudosclerosis westphal-strumpell syndrome westphal-strumpell syndrome (disorder) westphal-strumpell syndromes westphal-strÃ¼mpell syndrome wilson dis wilson disease, hepato-neurologic wilson diseases, hepato-neurologic wilson's disease wilson's disease (disorder) wilson's disease * wilson's disease * (disorder) wilsons dis wilsons disease wilsons disease liver wnd
Orphanet	ORPHANET:905
OMIM	OMIM:277900
DOID	DOID:893
ICD10	ICD10CM:E83.01
UMLS	C0019202
MeSH	D006527
SNOMED-CT	SNOMEDCT_US_2016_09_01:192640001;SNOMEDCT_US_2016_09_01:88518009;SNOMEDCT_US_2016_09_01:190823004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:44) C0023895 \| liver disease \| 8 C0023895 \| liver diseases \| 4 C0023890 \| cirrhosis \| 3 C0014544 \| epilepsy \| 2 C0023890 \| liver cirrhosis \| 2 C0020626 \| hypoparathyroidism \| 2 C0033860 \| psoriasis \| 1 C0009319 \| colitis \| 1 C0206083 \| central pontine myelinolysis \| 1 C0019204 \| hepatocellular carcinoma \| 1 C1096063 \| intractable epilepsy \| 1 C0338106 \| colonic adenocarcinoma \| 1 C0036439 \| scoliosis \| 1 C0000786 \| miscarriage \| 1 C0019151 \| hepatic encephalopathy \| 1 C0022408 \| arthropathy \| 1 C0851578 \| sleep disorders \| 1 C0002395 \| alzheimer's disease \| 1 C0037317 \| sleep disturbance \| 1 C0241910 \| autoimmune hepatitis \| 1 C0751772 \| rem sleep behavior disorder \| 1 C0007570 \| celiac disease \| 1 C0031117 \| peripheral neuropathy \| 1 C0001126 \| renal tubular acidosis \| 1 C0009324 \| ulcerative colitis \| 1 C1858581 \| aceruloplasminemia \| 1 C0005940 \| bone disease \| 1 C0015624 \| fanconi's syndrome \| 1 C0206698 \| cholangiocarcinoma \| 1 C0001418 \| adenocarcinoma \| 1 C0010495 \| cutis laxa \| 1 C0023798 \| lipomas \| 1 C0040961 \| tricuspid regurgitation \| 1 C0023798 \| lipoma \| 1 C0679466 \| cognitive deficits \| 1 C0020532 \| hypersplenism \| 1 C0409974 \| lupus erythematosus \| 1 C0086543 \| cataract \| 1 C0011251 \| delusional disorder \| 1 C0442874 \| neuropathy \| 1 C0037317 \| sleep disturbances \| 1 C0019158 \| hepatitis \| 1 C0035579 \| rickets \| 1 C0162739 \| hellp syndrome \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:24) 7124 \| TNF \| CTD_human 1356 \| CP \| CTD_human 540 \| ATP7B \| CLINVAR;CTD_human;GHR;UNIPROT;ORPHANET 3569 \| IL6 \| CTD_human 348 \| APOE \| CTD_human 6622 \| SNCA \| CTD_human 5621 \| PRNP \| CTD_human;GHR 191 \| AHCY \| CTD_human 57817 \| HAMP \| CTD_human 3586 \| IL10 \| CTD_human 3576 \| CXCL8 \| CTD_human 7076 \| TIMP1 \| CTD_human 308 \| ANXA5 \| CTD_human 438 \| ASMT \| CTD_human 4015 \| LOX \| CTD_human 5530 \| PPP3CA \| CTD_human 4713 \| NDUFB7 \| CTD_human 4017 \| LOXL2 \| CTD_human 635 \| BHMT \| CTD_human 5532 \| PPP3CB \| CTD_human 2 \| A2M \| CTD_human 54949 \| SDHAF2 \| CTD_human 56899 \| ANKS1B \| CTD_human 815 \| CAMK2A \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:27) 475 \| ATOX1 \| CIPHER 540 \| ATP7B \| CIPHER;CTD_human 3077 \| HFE \| CIPHER 5621 \| PRNP \| CIPHER;CTD_human 150684 \| COMMD1 \| CIPHER 348 \| APOE \| CIPHER;CTD_human 191 \| AHCY \| CTD_human 3586 \| IL10 \| CTD_human 57817 \| HAMP \| CTD_human 438 \| ASMT \| CTD_human 308 \| ANXA5 \| CTD_human 4713 \| NDUFB7 \| CTD_human 3569 \| IL6 \| CTD_human 635 \| BHMT \| CTD_human 5530 \| PPP3CA \| CTD_human 5532 \| PPP3CB \| CTD_human 4015 \| LOX \| CTD_human 7124 \| TNF \| CTD_human 6622 \| SNCA \| CTD_human 2 \| A2M \| CTD_human 3576 \| CXCL8 \| CTD_human 56899 \| ANKS1B \| CTD_human 815 \| CAMK2A \| CTD_human 1356 \| CP \| CTD_human 4017 \| LOXL2 \| CTD_human 7076 \| TIMP1 \| CTD_human 54949 \| SDHAF2 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:87) 2 \| A2M \| 1.189 \| DISEASES 1244 \| ABCC2 \| 1.565 \| DISEASES 174 \| AFP \| 1.228 \| DISEASES 229 \| ALDOB \| 3.801 \| DISEASES 56899 \| ANKS1B \| 2.081 \| DISEASES 310 \| ANXA7 \| 2.016 \| DISEASES 1174 \| AP1S1 \| 1.929 \| DISEASES 27237 \| ARHGEF16 \| 1.277 \| DISEASES 438 \| ASMT \| 1.435 \| DISEASES 23400 \| ATP13A2 \| 1.661 \| DISEASES 489 \| ATP2A3 \| 1.363 \| DISEASES 496 \| ATP4B \| 2.044 \| DISEASES 8992 \| ATP6V0E1 \| 2.88 \| DISEASES 538 \| ATP7A \| 5.717 \| DISEASES 9531 \| BAG3 \| 1.566 \| DISEASES 26580 \| BSCL2 \| 2.339 \| DISEASES 815 \| CAMK2A \| 1.399 \| DISEASES 838 \| CASP5 \| 1.21 \| DISEASES 9973 \| CCS \| 2.534 \| DISEASES 959 \| CD40LG \| 1.758 \| DISEASES 1183 \| CLCN4 \| 1.676 \| DISEASES 1314 \| COPA \| 3.584 \| DISEASES 1621 \| DBH \| 2.529 \| DISEASES 80067 \| DCAF17 \| 1.487 \| DISEASES 51164 \| DCTN4 \| 2.589 \| DISEASES 1984 \| EIF5A \| 1.305 \| DISEASES 2098 \| ESD \| 3.668 \| DISEASES 2199 \| FBLN2 \| 1.385 \| DISEASES 22862 \| FNDC3A \| 1.255 \| DISEASES 2395 \| FXN \| 1.275 \| DISEASES 2593 \| GAMT \| 1.035 \| DISEASES 2643 \| GCH1 \| 3.535 \| DISEASES 728441 \| GGT2 \| 1.947 \| DISEASES 3030 \| HADHA \| 2.732 \| DISEASES 3077 \| HFE \| 3.27 \| DISEASES 148738 \| HFE2 \| 1.854 \| DISEASES 3064 \| HTT \| 1.511 \| DISEASES 3397 \| ID1 \| 1.123 \| DISEASES 54617 \| INO80 \| 1.8 \| DISEASES 3718 \| JAK3 \| 1.467 \| DISEASES 9365 \| KL \| 1.241 \| DISEASES 114785 \| MBD6 \| 2.93 \| DISEASES 8972 \| MGAM \| 2.745 \| DISEASES 284424 \| MIR7-3HG \| 1.455 \| DISEASES 8569 \| MKNK1 \| 2.3 \| DISEASES 4501 \| MT1X \| 1.458 \| DISEASES 4520 \| MTF1 \| 1.807 \| DISEASES 4524 \| MTHFR \| 1.072 \| DISEASES 23040 \| MYT1L \| 1.734 \| DISEASES 9971 \| NR1H4 \| 1.181 \| DISEASES 50814 \| NSDHL \| 1.96 \| DISEASES 4987 \| OPRL1 \| 1.105 \| DISEASES 22953 \| P2RX2 \| 1.207 \| DISEASES 5333 \| PLCD1 \| 1.526 \| DISEASES 5532 \| PPP3CB \| 1.645 \| DISEASES 10549 \| PRDX4 \| 1.114 \| DISEASES 5592 \| PRKG1 \| 2.01 \| DISEASES 51334 \| PRR16 \| 1.238 \| DISEASES 112476 \| PRRT2 \| 1.457 \| DISEASES 5787 \| PTPRB \| 1.334 \| DISEASES 117584 \| RFFL \| 4.956 \| DISEASES 6023 \| RMRP \| 1.03 \| DISEASES 6161 \| RPL32 \| 1.619 \| DISEASES 51091 \| SEPSECS \| 2.233 \| DISEASES 84947 \| SERAC1 \| 1.44 \| DISEASES 5265 \| SERPINA1 \| 2.525 \| DISEASES 29072 \| SETD2 \| 1.305 \| DISEASES 4891 \| SLC11A2 \| 1.437 \| DISEASES 10864 \| SLC22A7 \| 1.162 \| DISEASES 1317 \| SLC31A1 \| 2.272 \| DISEASES 9197 \| SLC33A1 \| 1.806 \| DISEASES 6569 \| SLC34A1 \| 1.143 \| DISEASES 64116 \| SLC39A8 \| 1.418 \| DISEASES 55974 \| SLC50A1 \| 2.057 \| DISEASES 6533 \| SLC6A6 \| 2.02 \| DISEASES 114798 \| SLITRK1 \| 4.522 \| DISEASES 6622 \| SNCA \| 1.051 \| DISEASES 6635 \| SNRPE \| 1.05 \| DISEASES 6949 \| TCOF1 \| 2.722 \| DISEASES 7018 \| TF \| 2.805 \| DISEASES 7033 \| TFF3 \| 1.385 \| DISEASES 1861 \| TOR1A \| 1.634 \| DISEASES 7225 \| TRPC6 \| 1.166 \| DISEASES 157680 \| VPS13B \| 1.599 \| DISEASES 7444 \| VRK2 \| 1.737 \| DISEASES 23038 \| WDTC1 \| 1.025 \| DISEASES 331 \| XIAP \| 2.237 \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) ATP7B \| 13q14.3

Disease ID	12
Disease	wilson disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:33) HP:0001155 \| Abnormality of the hand HP:0002653 \| Bone pain HP:0000978 \| Bruising susceptibility HP:0001824 \| Weight loss HP:0002355 \| Difficulty walking HP:0030214 \| Hypersexuality HP:0001260 \| Dysarthria HP:0006554 \| Acute hepatic failure HP:0002829 \| Arthralgia HP:0001873 \| Thrombocytopenia HP:0002312 \| Clumsiness HP:0000140 \| Abnormality of the menstrual cycle HP:0000718 \| Aggressive behavior HP:0000952 \| Jaundice HP:0001903 \| Anemia HP:0003418 \| Back pain HP:0004324 \| Increased body weight HP:0001386 \| Joint swelling HP:0200119 \| Acute hepatitis HP:0200032 \| Kayser-Fleischer ring HP:0001508 \| Failure to thrive HP:0001397 \| Hepatic steatosis HP:0002240 \| Hepatomegaly HP:0001249 \| Intellectual disability HP:0002910 \| Elevated hepatic transaminases HP:0001744 \| Splenomegaly HP:0001394 \| Cirrhosis HP:0001369 \| Arthritis HP:0000716 \| Depression HP:0000989 \| Pruritus HP:0002756 \| Pathologic fracture HP:0012115 \| Hepatitis HP:0008994 \| Proximal muscle weakness in lower limbs
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:51) HP:0001399 \| Liver failure \| 13 HP:0006554 \| Acute hepatic failure \| 7 HP:0011967 \| Hypocupremia \| 6 HP:0001394 \| Hepatic cirrhosis \| 3 HP:0001397 \| Hepatic steatosis \| 3 HP:0001941 \| acidemia \| 2 HP:0000829 \| Hypoparathyroidism \| 2 HP:0100543 \| Cognitive deficits \| 2 HP:0001947 \| Renal tubular acidosis \| 2 HP:0001298 \| Encephalopathy \| 2 HP:0030731 \| Carcinoma \| 1 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0000518 \| Cataract \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0001873 \| Low platelet count \| 1 HP:0002015 \| Swallowing difficulty \| 1 HP:0000709 \| Psychosis \| 1 HP:0000973 \| Dermatomegaly \| 1 HP:0002322 \| Resting tremor \| 1 HP:0003040 \| Arthropathy \| 1 HP:0030665 \| Holmes' tremor \| 1 HP:0002480 \| Hepatic encephalopathy \| 1 HP:0002307 \| Sialorrhea \| 1 HP:0001289 \| Confusion \| 1 HP:0001297 \| Cerebral vascular events \| 1 HP:0004448 \| Fulminant hepatic failure \| 1 HP:0002756 \| Pathologic fracture \| 1 HP:0004787 \| Fulminant hepatitis \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0002910 \| Elevated transaminases \| 1 HP:0002748 \| Rickets \| 1 HP:0002376 \| Loss of developmental milestones \| 1 HP:0003765 \| Psoriasis \| 1 HP:0000738 \| Sensory hallucination \| 1 HP:0200032 \| Fleischer-Struempell ring \| 1 HP:0002900 \| Hypokalemia \| 1 HP:0007440 \| Generalized hyperpigmentation \| 1 HP:0001031 \| Subcutaneous lipoma \| 1 HP:0002608 \| Celiac disease \| 1 HP:0100626 \| Chronic hepatic failure \| 1 HP:0001971 \| Hypersplenism \| 1 HP:0002901 \| Hypocalcemia \| 1 HP:0001410 \| Decreased liver function \| 1 HP:0001337 \| Tremor \| 1 HP:0012115 \| Liver inflammation \| 1 HP:0005180 \| Tricuspid insufficiency \| 1 HP:0008303 \| Olivary degeneration \| 1 HP:0002650 \| Scoliosis \| 1 HP:0002360 \| Sleep disturbance \| 1 HP:0012032 \| Lipoma \| 1 HP:0030153 \| Cholangiocarcinoma \| 1

Disease ID	12
Disease	wilson disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:22) C2186532 \| liver disease C1522560 \| neurodegenerative disorders C1000483 \| anemia C0752303 \| urological manifestations C0746556 \| metabolic disturbance C0571206 \| penicillamine allergy C0403416 \| crescentic glomerulonephritis C0392525 \| nephrolithiasis C0302809 \| fulminant hepatitis C0302332 \| toxicosis C0235031 \| neurological symptoms C0162557 \| fulminant hepatic failure C0162557 \| acute liver failure C0030805 \| bullous pemphigoid C0029166 \| oral manifestations C0026884 \| mutism C0022408 \| arthropathy C0019158 \| hepatitis C0018213 \| grave's disease C0013384 \| dyskinesia C0002878 \| hemolytic anemia C0000786 \| spontaneous abortions
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:27) C0023895 \| liver disease \| 9 C0162557 \| acute liver failure \| 7 C0752303 \| urological manifestations \| 5 C0268070 \| copper deficiency \| 4 C0085605 \| liver failure \| 4 C0235031 \| neurological symptoms \| 3 C0085605 \| hepatic failure \| 2 C0023890 \| liver cirrhosis \| 2 C0162557 \| fulminant liver failure \| 2 C0014544 \| epilepsy \| 2 C0020626 \| hypoparathyroidism \| 2 C0752303 \| urological manifestation \| 1 C0022408 \| arthropathy \| 1 C0020532 \| hypersplenism \| 1 C0033975 \| psychosis \| 1 C0037317 \| sleep disturbances \| 1 C0086543 \| cataract \| 1 C0162557 \| fulminant hepatic failure \| 1 C0206698 \| cholangiocarcinoma \| 1 C0679466 \| cognitive deficits \| 1 C0152457 \| kayser-fleischer ring \| 1 C0019158 \| hepatitis \| 1 C0233401 \| psychiatric symptoms \| 1 C0268070 \| hypocupremia \| 1 C0010495 \| cutis laxa \| 1 C0015624 \| fanconi's syndrome \| 1 C0302809 \| fulminant hepatitis \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:122)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113488022	24717435	673	BRAF	umls:C0019202	BeFree	Cu chelators used in the treatment of Wilson disease decreased tumour growth of human or murine cells transformed by BRAF(V600E) or engineered to be resistant to BRAF inhibition.	0.000271442	2014	BRAF	7	140753336	A	T,G,C
rs121907990	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51937570	T	C,A
rs121907992	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51937583	C	T
rs121907993	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51949772	G	C,A
rs121907994	9554743	1769	DNAH8	umls:C0019202	BeFree	Four mutations--R778L, A874V, L1083F, and 2304delC--in the copper-transporting enzyme, P-type ATPase (ATP7B), were identified in Korean Patients with Wilson disease.	0.010043349	1998	ATP7B	13	51950116	G	A
rs121907994	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51950116	G	A
rs121907996	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51946438	C	T
rs121907997	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51958369	G	C,A
rs121907998	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51961849	A	C
rs121907999	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51974355	G	A
rs121908000	21832955	540	ATP7B	umls:C0019202	BeFree	Manifestations and evolution of Wilson disease in pediatric patients carrying ATP7B mutation L708P.	0.819304708	2012	ATP7B	13	51958543	A	G
rs121908000	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51958543	A	G
rs121908001	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51960198	C	T
rs137853279	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51941111	C	T,A
rs137853280	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51965034	C	G
rs137853281	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51942396	G	-
rs137853282	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51958329	C	T
rs137853283	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51958330	C	T
rs137853284	17160357	540	ATP7B	umls:C0019202	BeFree	The present study was intended to estimate the frequencies of the most common mutations (R778L, R778W, R778G, I1102T and H1069Q) of ATP7B in Indian Wilson disease (WD) population and to explore the correlation between genotype/phenotype and copper ATPase activity.	0.819304708	2007	ATP7B	13	51958334	G	C,A
rs137853284	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51958334	G	C,A
rs137853285	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51958538	C	T
rs138427376	18373411	540	ATP7B	umls:C0019202	UNIPROT	New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.	0.819304708	2008	ATP7B	13	51968544	A	G
rs138427376	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51968544	A	G
rs139775239	20550661	150684	COMMD1	umls:C0019202	BeFree	A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient.	0.009715826	2010	COMMD1	2	62135889	C	T
rs1799990	16831968	5621	PRNP	umls:C0019202	BeFree	This study shows for the first time, to our knowledge, that the human PrP polymorphism M129V influences the onset of symptoms in patients with the copper storage disorder Wilson disease.	0.128001298	2006	PRNP	20	4699605	A	G
rs181250704	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51935019	G	A
rs181250704	16088907	540	ATP7B	umls:C0019202	UNIPROT	The WND gene, ATP7B, encodes a copper transporting ATPase that is involved in the transport of copper into the plasma protein ceruloplasmin, and in the excretion of copper from the liver.	0.819304708	2005	ATP7B	13	51935019	G	A
rs182659444	15967699	540	ATP7B	umls:C0019202	UNIPROT	Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.	0.819304708	2005	ATP7B	13	51942466	C	T
rs184388696	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51941080	C	T
rs184868522	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51975122	A	G
rs186924074	15967699	540	ATP7B	umls:C0019202	UNIPROT	Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.	0.819304708	2005	ATP7B	13	51961861	A	G
rs191312027	15952988	540	ATP7B	umls:C0019202	UNIPROT	Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.	0.819304708	2005	ATP7B	13	51950132	C	A,T
rs191312027	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51950132	C	A,T
rs193922102	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51958552	A	G,C
rs193922103	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51958361	T	C
rs193922104	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51946391	A	G
rs193922107	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51939091	G	A
rs193922108	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51937679	C	A
rs193922109	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51937342	G	A
rs193922110	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51935659	C	T,G
rs193922111	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51974375	A	-
rs199821556	11954751	540	ATP7B	umls:C0019202	UNIPROT	Presymptomatic diagnosis of Wilson disease associated with a novel mutation of the ATP7B gene.	0.819304708	2002	ATP7B	13	51937493	C	T
rs200911496	18373411	540	ATP7B	umls:C0019202	UNIPROT	New mutations in the Wilson disease gene, ATP7B: implications for molecular testing.	0.819304708	2008	ATP7B	13	51939062	T	C,G
rs201038679	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51946369	G	A
rs201497300	16207219	540	ATP7B	umls:C0019202	UNIPROT	Spectrum of mutations in the Wilson disease gene (ATP7B) in the Bulgarian population.	0.819304708	2005	ATP7B	13	51946337	C	T
rs201497300	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51946337	C	T
rs201738967	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51975098	T	C
rs28942074	14966923	540	ATP7B	umls:C0019202	UNIPROT	Correlation of ATP7B genotype with phenotype in Chinese patients with Wilson disease.	0.819304708	2004	ATP7B	13	51958333	C	T,A
rs28942074	17160357	540	ATP7B	umls:C0019202	BeFree	The present study was intended to estimate the frequencies of the most common mutations (R778L, R778W, R778G, I1102T and H1069Q) of ATP7B in Indian Wilson disease (WD) population and to explore the correlation between genotype/phenotype and copper ATPase activity.	0.819304708	2007	ATP7B	13	51958333	C	T,A
rs28942074	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51958333	C	T,A
rs28942074	9554743	1769	DNAH8	umls:C0019202	BeFree	Four mutations--R778L, A874V, L1083F, and 2304delC--in the copper-transporting enzyme, P-type ATPase (ATP7B), were identified in Korean Patients with Wilson disease.	0.010043349	1998	ATP7B	13	51958333	C	T,A
rs28942075	21682854	540	ATP7B	umls:C0019202	UNIPROT	Phenotypic and genetic characterization of a cohort of pediatric Wilson disease patients.	0.819304708	2011	ATP7B	13	51958373	C	T,G
rs28942075	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51958373	C	T,G
rs28942076	15952988	540	ATP7B	umls:C0019202	UNIPROT	Mutation analysis of Wilson disease in the Spanish population -- identification of a prevalent substitution and eight novel mutations in the ATP7B gene.	0.819304708	2005	ATP7B	13	51949700	C	T
rs28942076	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51949700	C	T
rs367956522	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51949798	T	C
rs371840514	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51946291	G	A
rs372436901	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51960300	T	C,G
rs386626645	17160357	540	ATP7B	umls:C0019202	BeFree	The present study was intended to estimate the frequencies of the most common mutations (R778L, R778W, R778G, I1102T and H1069Q) of ATP7B in Indian Wilson disease (WD) population and to explore the correlation between genotype/phenotype and copper ATPase activity.	0.819304708	2007	NA	NA	NA	NA	NA
rs386626645	15519648	540	ATP7B	umls:C0019202	BeFree	The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.	0.819304708	2004	NA	NA	NA	NA	NA
rs386626645	25134866	540	ATP7B	umls:C0019202	BeFree	OSIP108 increased not only viability of Cu-treated CHO cells transgenically expressing ATP7B and the common WD-causing mutant ATP7B(H1069Q), but also viability of Cu-treated human glioblastoma U87 cells.	0.819304708	2014	NA	NA	NA	NA	NA
rs398123137	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51974305	A	T
rs41292782	16088907	540	ATP7B	umls:C0019202	UNIPROT	The WND gene, ATP7B, encodes a copper transporting ATPase that is involved in the transport of copper into the plasma protein ceruloplasmin, and in the excretion of copper from the liver.	0.819304708	2005	ATP7B	13	51946372	G	A
rs41292782	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51946372	G	A
rs558037268	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51974695	TT	-
rs572147914	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51974407	G	A,T
rs587783299	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51961906	C	G
rs587783306	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51949661	C	T
rs587783307	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51946333	T	G
rs587783317	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51937276	C	T
rs587783318	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51935678	C	T
rs59959366	8980283	540	ATP7B	umls:C0019202	UNIPROT	A homozygous nonsense mutation and a combination of two mutations of the Wilson disease gene in patients with different lysyl oxidase activities in cultured fibroblasts.	0.819304708	1997	ATP7B	13	51944239	C	G,T
rs60003608	8938442	540	ATP7B	umls:C0019202	UNIPROT	Efficient detection of mutations in Wilson disease by manifold sequencing.	0.819304708	1996	ATP7B	13	51946445	T	A
rs60431989	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51941194	A	G
rs60431989	15967699	540	ATP7B	umls:C0019202	UNIPROT	Mutation analysis of the ATP7B gene and genotype/phenotype correlation in 227 patients with Wilson disease.	0.819304708	2005	ATP7B	13	51941194	A	G
rs60986317	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51934853	G	A
rs60986317	10544227	540	ATP7B	umls:C0019202	UNIPROT	These data expand our knowledge of both the structure-function relationships of the WD protein and the molecular pathology of WD, thus improving our capability of prevention and genetic counselling.	0.819304708	1999	ATP7B	13	51934853	G	A
rs72552255	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51946414	G	A
rs72552259	9671269	540	ATP7B	umls:C0019202	UNIPROT	This study presents the update results of an ongoing project on the delineation of the spectrum of mutations at the Wilson disease (WD) gene in WD patients of Mediterranean origin.	0.819304708	1998	ATP7B	13	51960274	C	T
rs72552285	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51961859	C	T,G
rs7334118	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51939130	T	C
rs74085882	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51944251	T	C
rs748924063	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51941084	-	A
rs749085322	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51941132	T	C
rs749472361	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51937484	G	A
rs750019452	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51949723	G	A
rs751710854	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51957580	G	A
rs753236073	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51974906	G	A,T
rs753250853	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51942535	A	T
rs753962912	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51964995	TA	-
rs755554442	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51941186	G	A
rs755709270	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51950315	T	-
rs756029120	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51941120	C	T
rs758355520	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51937561	G	A
rs759749626	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51973933	A	T
rs76151636	25134866	540	ATP7B	umls:C0019202	BeFree	OSIP108 increased not only viability of Cu-treated CHO cells transgenically expressing ATP7B and the common WD-causing mutant ATP7B(H1069Q), but also viability of Cu-treated human glioblastoma U87 cells.	0.819304708	2014	ATP7B	13	51944145	G	A,T
rs76151636	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51944145	G	A,T
rs76151636	15519648	540	ATP7B	umls:C0019202	BeFree	The H1069Q mutation in ATP7B is associated with late and neurologic presentation in Wilson disease: results of a meta-analysis.	0.819304708	2004	ATP7B	13	51944145	G	A,T
rs76151636	17160357	540	ATP7B	umls:C0019202	BeFree	The present study was intended to estimate the frequencies of the most common mutations (R778L, R778W, R778G, I1102T and H1069Q) of ATP7B in Indian Wilson disease (WD) population and to explore the correlation between genotype/phenotype and copper ATPase activity.	0.819304708	2007	ATP7B	13	51944145	G	A,T
rs766149114	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51950271	C	G
rs768671894	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51950328	G	A
rs768729972	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51958500	-	A
rs774221179	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51974889	G	A
rs775055397	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51946336	G	A
rs776280797	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51939104	C	T
rs776848753	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51935629	G	A,C
rs777362050	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51950334	T	-
rs779323689	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51949699	C	T
rs779904655	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51960254	AGCATAT	-
rs780327716	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51964959	A	-
rs781266802	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51939096	CAGAAC	-
rs786204483	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51942497	C	T
rs786204547	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51941081	C	T
rs786204570	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51974441	-	G
rs786204578	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51935666	G	A
rs786204584	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51942556	T	C
rs786204643	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51974966	C	A
rs786204658	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51939152	G	A
rs786204718	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51950069	C	T
rs786204764	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51960234	G	-
rs797045083	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51974837	C	-
rs797045402	NA	540	ATP7B	umls:C0019202	CLINVAR	NA	0.819304708	NA	ATP7B	13	51964969	C	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:11)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000718	Aggressive behavior	MP:0012312	impaired avoidance learning behavior	impaired ability to associate a previously neutral stimulus with an unpleasant or punishing stimuli so that the animal learns to avoid the previously neutral stimulus
HP:0008994	Proximal muscle weakness in lower limbs	MP:0009400	decreased skeletal muscle fiber size	decrease in the size of the large multinucleated cells that make up the skeletal muscles
HP:0006554	Acute hepatic failure	MP:0002628	hepatic steatosis	an accumulation of fat deposits in the liver
HP:0002910	Elevated hepatic transaminases	MP:0002628	hepatic steatosis	an accumulation of fat deposits in the liver
HP:0001155	Abnormality of the hand	MP:0010465	aberrant origin of the right subclavian artery	the right subclavian artery arises from an atypical location on the aortic arch or the proximal descending aorta
HP:0000140	Abnormality of the menstrual cycle	MP:0004499	increased incidence of tumors by chemical induction	higher than normal frequency of tumor incidence induced by one or more chemical carcinogens or mutagens
HP:0004324	Increased body weight	MP:0001262	decreased body weight	lower than normal average weight
HP:0001508	Failure to thrive	MP:0013294	prenatal lethality prior to heart atrial septation	death prior to the completion of heart atrial septation (Mus: E14.5-15.5)
HP:0001386	Joint swelling	MP:0002936	joint swelling	enlargement of the joints, usually due to an accumulation of fluid
HP:0000978	Bruising susceptibility	MP:0005596	increased susceptibility to type I hypersensitivity reaction	greater likelihood of developing a response manifested by localized or generalized reaction that occurs immediately (minutes) after exposure to an antigen to which the person/animal was previously sensitized; it is IgE-mediated, and mast cell activation a
HP:0001824	Weight loss	MP:0005114	premature hair loss	release of fur at an earlier than expected time

Mapped by homologous gene(Total Items:32)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0000140	Abnormality of the menstrual cycle	MP:0014169	decreased brown adipose tissue mass	decreased physical bulk or volume of brown adipose tissue
HP:0006554	Acute hepatic failure	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002653	Bone pain	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002355	Difficulty walking	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0030214	Hypersexuality	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001369	Arthritis	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0000978	Bruising susceptibility	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0002756	Pathologic fracture	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone
HP:0002240	Hepatomegaly	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001903	Anemia	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001744	Splenomegaly	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0000718	Aggressive behavior	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001508	Failure to thrive	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0200032	Kayser-Fleischer ring	MP:0011214	increased brain copper level	a greater accumulation of copper in the brain tissue compared to controls
HP:0001260	Dysarthria	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0001873	Thrombocytopenia	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000952	Jaundice	MP:0020215	impaired blood coagulation	impaired ability of the blood to clot
HP:0008994	Proximal muscle weakness in lower limbs	MP:0013178	tail necrosis	morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage
HP:0001824	Weight loss	MP:0020220	decreased tear production	decreased production of the amount of fluid produced in the eye
HP:0001155	Abnormality of the hand	MP:0020039	increased bone ossification	increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0002829	Arthralgia	MP:0020154	impaired humoral immune response	impaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002312	Clumsiness	MP:0013504	increased embryonic tissue cell apoptosis	increase in the timing or the number of cells in embryonic tissue undergoing programmed cell death
HP:0002910	Elevated hepatic transaminases	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0001249	Intellectual disability	MP:0020316	decreased vascular endothelial cell proliferation	decrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0001394	Cirrhosis	MP:0020134	abnormal gallbladder size	an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile
HP:0001397	Hepatic steatosis	MP:0020234	decreased basal metabolism	decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state
HP:0001386	Joint swelling	MP:0013743	ciliary body hypoplasia	underdevelopment or reduced size, usually due to a reduced number of cells, of the thickened portion of the vascular tunic which lies between the choroid and the iris
HP:0000716	Depression	MP:0020329	decreased capillary density	reduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000989	Pruritus	MP:0020254	decreased collagen level	decreased level of the main structural protein of the various connective tissues in animals
HP:0004324	Increased body weight	MP:0012498	abnormal cardiogenic plate morphology	any structural anomaly of the splanchnic mesodermal thickening which forms cranial and lateral to the developing neural plate; angiogenic cell clusters (aka angioblastic cords) located in a horse-shoe shape configuration in the cardiogenic plate coalesce
HP:0012115	Hepatitis	MP:0013716	hypolactation	partial failure, or reduced ability to produce or secrete milk from the mammary gland
HP:0003418	Back pain	MP:0020137	decreased bone mineralization	decrease in the rate at which minerals are deposited into bone

Disease ID	12
Disease	wilson disease
Case	(Waiting for update.)