PedAM

Pediatric Disease Annotations & Medicines


	wilson disease

Disease ID	6
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:11) C0023895 \| liver disease \| 6 C0023895 \| liver diseases \| 2 C0023798 \| lipoma \| 1 C0023890 \| cirrhosis \| 1 C0019204 \| hepatocellular carcinoma \| 1 C0040034 \| thrombocytopenia \| 1 C0022408 \| arthropathy \| 1 C0442874 \| neuropathy \| 1 C0023798 \| lipomas \| 1 C0031117 \| peripheral neuropathy \| 1 C0206083 \| central pontine myelinolysis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:24) TNF \| 7124 \| CTD_human IL6 \| 3569 \| CTD_human CP \| 1356 \| CTD_human APOE \| 348 \| CTD_human SNCA \| 6622 \| CTD_human PRNP \| 5621 \| CTD_human;GHR ATP7B \| 540 \| CLINVAR;CTD_human;GHR;ORPHANET;UNIPROT TIMP1 \| 7076 \| CTD_human IL10 \| 3586 \| CTD_human ASMT \| 438 \| CTD_human LOX \| 4015 \| CTD_human PPP3CA \| 5530 \| CTD_human BHMT \| 635 \| CTD_human AHCY \| 191 \| CTD_human ANXA5 \| 308 \| CTD_human A2M \| 2 \| CTD_human CXCL8 \| 3576 \| CTD_human LOXL2 \| 4017 \| CTD_human ANKS1B \| 56899 \| CTD_human HAMP \| 57817 \| CTD_human SDHAF2 \| 54949 \| CTD_human NDUFB7 \| 4713 \| CTD_human PPP3CB \| 5532 \| CTD_human CAMK2A \| 815 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 475 \| ATOX1 \| infer 540 \| ATP7B \| infer 3077 \| HFE \| infer 5621 \| PRNP \| infer 150684 \| COMMD1 \| infer 348 \| APOE \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:173) 11183 \| MAP4K5 \| DISEASES 5009 \| OTC \| DISEASES 23152 \| CIC \| DISEASES 368 \| ABCC6 \| DISEASES 4713 \| NDUFB7 \| DISEASES 410 \| ARSA \| DISEASES 25828 \| TXN2 \| DISEASES 7443 \| VRK1 \| DISEASES 191 \| AHCY \| DISEASES 412 \| STS \| DISEASES 4913 \| NTHL1 \| DISEASES 2936 \| GSR \| DISEASES 57817 \| HAMP \| DISEASES 7036 \| TFR2 \| DISEASES 4015 \| LOX \| DISEASES 4358 \| MPV17 \| DISEASES 847 \| CAT \| DISEASES 540 \| ATP7B \| DISEASES 3223 \| HOXC6 \| DISEASES 56269 \| IRGC \| DISEASES 2678 \| GGT1 \| DISEASES 8930 \| MBD4 \| DISEASES 1315 \| COPB1 \| DISEASES 7166 \| TPH1 \| DISEASES 15 \| AANAT \| DISEASES 348 \| APOE \| DISEASES 50617 \| ATP6V0A4 \| DISEASES 6341 \| SCO1 \| DISEASES 10599 \| SLCO1B1 \| DISEASES 53 \| ACP2 \| DISEASES 1144 \| CHRND \| DISEASES 1318 \| SLC31A2 \| DISEASES 7274 \| TTPA \| DISEASES 1134 \| CHRNA1 \| DISEASES 10063 \| COX17 \| DISEASES 4659 \| PPP1R12A \| DISEASES 23531 \| MMD \| DISEASES 6521 \| SLC4A1 \| DISEASES 9914 \| ATP2C2 \| DISEASES 1991 \| ELANE \| DISEASES 8647 \| ABCB11 \| DISEASES 1356 \| CP \| DISEASES 7879 \| RAB7A \| DISEASES 6742 \| SSBP1 \| DISEASES 5244 \| ABCB4 \| DISEASES 25793 \| FBXO7 \| DISEASES 7112 \| TMPO \| DISEASES 6821 \| SUOX \| DISEASES 51411 \| BIN2 \| DISEASES 6687 \| SPG7 \| DISEASES 4864 \| NPC1 \| DISEASES 112483 \| SAT2 \| DISEASES 432 \| ASGR1 \| DISEASES 7157 \| TP53 \| DISEASES 6531 \| SLC6A3 \| DISEASES 10733 \| PLK4 \| DISEASES 26154 \| ABCA12 \| DISEASES 23250 \| ATP11A \| DISEASES 5205 \| ATP8B1 \| DISEASES 9320 \| TRIP12 \| DISEASES 351 \| APP \| DISEASES 761 \| CA3 \| DISEASES 3156 \| HMGCR \| DISEASES 23516 \| SLC39A14 \| DISEASES 58191 \| CXCL16 \| DISEASES 1145 \| CHRNE \| DISEASES 213 \| ALB \| DISEASES 64122 \| FN3K \| DISEASES 5724 \| PTAFR \| DISEASES 53354 \| PANK1 \| DISEASES 478 \| ATP1A3 \| DISEASES 189 \| AGXT \| DISEASES 7064 \| THOP1 \| DISEASES 150684 \| COMMD1 \| DISEASES 2147 \| F2 \| DISEASES 6169 \| RPL38 \| DISEASES 254263 \| CNIH2 \| DISEASES 23209 \| MLC1 \| DISEASES 11037 \| STON1 \| DISEASES 51172 \| NAGPA \| DISEASES 80025 \| PANK2 \| DISEASES 5062 \| PAK2 \| DISEASES 56475 \| RPRM \| DISEASES 475 \| ATOX1 \| DISEASES 8575 \| PRKRA \| DISEASES 79901 \| CYBRD1 \| DISEASES 6569 \| SLC34A1 \| DISEASES 2 \| A2M \| DISEASES 117584 \| RFFL \| DISEASES 23400 \| ATP13A2 \| DISEASES 496 \| ATP4B \| DISEASES 5787 \| PTPRB \| DISEASES 1174 \| AP1S1 \| DISEASES 1984 \| EIF5A \| DISEASES 4987 \| OPRL1 \| DISEASES 148738 \| HFE2 \| DISEASES 6622 \| SNCA \| DISEASES 7225 \| TRPC6 \| DISEASES 7444 \| VRK2 \| DISEASES 22953 \| P2RX2 \| DISEASES 1861 \| TOR1A \| DISEASES 538 \| ATP7A \| DISEASES 3064 \| HTT \| DISEASES 331 \| XIAP \| DISEASES 114785 \| MBD6 \| DISEASES 5265 \| SERPINA1 \| DISEASES 64116 \| SLC39A8 \| DISEASES 157680 \| VPS13B \| DISEASES 112476 \| PRRT2 \| DISEASES 9197 \| SLC33A1 \| DISEASES 489 \| ATP2A3 \| DISEASES 26580 \| BSCL2 \| DISEASES 6533 \| SLC6A6 \| DISEASES 54617 \| INO80 \| DISEASES 23038 \| WDTC1 \| DISEASES 84947 \| SERAC1 \| DISEASES 1314 \| COPA \| DISEASES 55974 \| SLC50A1 \| DISEASES 9531 \| BAG3 \| DISEASES 50814 \| NSDHL \| DISEASES 1244 \| ABCC2 \| DISEASES 959 \| CD40LG \| DISEASES 8569 \| MKNK1 \| DISEASES 10864 \| SLC22A7 \| DISEASES 310 \| ANXA7 \| DISEASES 4520 \| MTF1 \| DISEASES 5592 \| PRKG1 \| DISEASES 1317 \| SLC31A1 \| DISEASES 229 \| ALDOB \| DISEASES 80067 \| DCAF17 \| DISEASES 3397 \| ID1 \| DISEASES 4524 \| MTHFR \| DISEASES 114798 \| SLITRK1 \| DISEASES 2395 \| FXN \| DISEASES 27237 \| ARHGEF16 \| DISEASES 2098 \| ESD \| DISEASES 10549 \| PRDX4 \| DISEASES 51334 \| PRR16 \| DISEASES 9365 \| KL \| DISEASES 3030 \| HADHA \| DISEASES 1183 \| CLCN4 \| DISEASES 438 \| ASMT \| DISEASES 51091 \| SEPSECS \| DISEASES 1621 \| DBH \| DISEASES 838 \| CASP5 \| DISEASES 4501 \| MT1X \| DISEASES 5532 \| PPP3CB \| DISEASES 4891 \| SLC11A2 \| DISEASES 2643 \| GCH1 \| DISEASES 174 \| AFP \| DISEASES 6161 \| RPL32 \| DISEASES 815 \| CAMK2A \| DISEASES 2199 \| FBLN2 \| DISEASES 728441 \| GGT2 \| DISEASES 7018 \| TF \| DISEASES 29072 \| SETD2 \| DISEASES 3718 \| JAK3 \| DISEASES 23040 \| MYT1L \| DISEASES 6635 \| SNRPE \| DISEASES 2593 \| GAMT \| DISEASES 51164 \| DCTN4 \| DISEASES 22862 \| FNDC3A \| DISEASES 3077 \| HFE \| DISEASES 6949 \| TCOF1 \| DISEASES 8992 \| ATP6V0E1 \| DISEASES 5333 \| PLCD1 \| DISEASES 7033 \| TFF3 \| DISEASES 9973 \| CCS \| DISEASES 9971 \| NR1H4 \| DISEASES 8972 \| MGAM \| DISEASES 56899 \| ANKS1B \| DISEASES 284424 \| MIR7-3HG \| DISEASES 6023 \| RMRP \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) ATP7B \| 13q14.3

Disease ID	6
Disease	wilson disease
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:33) HP:0002829 \| Arthralgia HP:0001824 \| Weight loss HP:0001394 \| Cirrhosis HP:0000952 \| Jaundice HP:0001155 \| Abnormality of the hand HP:0001386 \| Joint swelling HP:0001744 \| Splenomegaly HP:0030214 \| Hypersexuality HP:0003418 \| Back pain HP:0001260 \| Dysarthria HP:0000140 \| Abnormality of the menstrual cycle HP:0002240 \| Hepatomegaly HP:0002910 \| Elevated hepatic transaminases HP:0000989 \| Pruritus HP:0000716 \| Depression HP:0001873 \| Thrombocytopenia HP:0002355 \| Difficulty walking HP:0001397 \| Hepatic steatosis HP:0008994 \| Proximal muscle weakness in lower limbs HP:0001369 \| Arthritis HP:0004324 \| Increased body weight HP:0002756 \| Pathologic fracture HP:0012115 \| Hepatitis HP:0006554 \| Acute hepatic failure HP:0002312 \| Clumsiness HP:0001903 \| Anemia HP:0000718 \| Aggressive behavior HP:0200119 \| Acute hepatitis HP:0001249 \| Intellectual disability HP:0200032 \| Kayser-Fleischer ring HP:0002653 \| Bone pain HP:0001508 \| Failure to thrive HP:0000978 \| Bruising susceptibility
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:16) HP:0001399 \| Liver failure \| 8 HP:0006554 \| Acute hepatic failure \| 6 HP:0011967 \| Hypocupremia \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0003040 \| Arthropathy \| 1 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0001873 \| Low platelet count \| 1 HP:0008303 \| Olivary degeneration \| 1 HP:0001397 \| Hepatic steatosis \| 1 HP:0012032 \| Lipoma \| 1 HP:0001031 \| Subcutaneous lipoma \| 1 HP:0009830 \| Peripheral neuritis \| 1 HP:0002756 \| Pathologic fracture \| 1 HP:0001298 \| Encephalopathy \| 1 HP:0001394 \| Hepatic cirrhosis \| 1 HP:0030731 \| Carcinoma \| 1

Disease ID	6
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:5) C0023895 \| liver disease \| 6 C0162557 \| acute liver failure \| 6 C0752303 \| urological manifestations \| 3 C0235031 \| neurological symptoms \| 2 C0022408 \| arthropathy \| 1

Manually Genotype(Total Text Mining 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:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0001878	Hemolytic anemia	MP:0002810	microcytic anemia;HP:0001399	Hepatic failure

Mapped by homologous gene(Total Items:1)
HP ID	HP Name	MP ID	MP Name	Annotation
HP:0002300	Mutism	MP:0000010	abnormal abdominal fat pad morphology;HP:0002758	Osteoarthritis

Chemical(Total Drugs:3)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0019202	phenytoin	D010672	57-41-0	hepatolenticular degeneration	MESH:D006527	therapeutic	5421930
C0019202	pyridoxine	D011736	-	hepatolenticular degeneration	MESH:D006527	therapeutic	5421930
C0019202	zinc acetate	D019345	5970-45-6	hepatolenticular degeneration	MESH:D006527	therapeutic	11585717

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)