ATP7B (ATPase copper transporting beta)

Gene

• Entrez ID: 540
• Gene name: ATPase copper transporting beta
• Gene symbol: ATP7B
• Synonyms (NCBI Gene): PWD, WC1, WD, WND
• Chromosome: 13
• Chromosome location: 13q14.3
• Summary: This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This prote

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28942074	C>A,T	Pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs28942075	C>G,T	Pathogenic-likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs28942076	C>A,T	Pathogenic, uncertain-significance	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs41292782	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs60431989	A>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs60986317	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs61733679	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs61733680	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs72552255	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs72552259	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs72552285	C>A,G,T	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, intron variant, coding sequence variant, non coding transcript variant
rs74904335	G>A	Benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs76151636	G>A,T	Pathogenic	Missense variant, non coding transcript variant, synonymous variant, coding sequence variant
rs114771537	G>A	Benign-likely-benign, benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs116587608	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, coding sequence variant
rs121907990	T>A,C	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121907992	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121907993	G>A,C,T	Pathogenic, likely-pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant, synonymous variant, non coding transcript variant
rs121907994	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs121907996	C>T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121907997	G>A,C	Likely-pathogenic, pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs121907998	A>C	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs121907999	G>A	Pathogenic-likely-pathogenic, pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs121908000	A>G	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs121908001	C>T	Likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs137853279	C>A,T	Pathogenic	Stop gained, missense variant, non coding transcript variant, coding sequence variant
rs137853280	C>G,T	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant
rs137853281	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs137853283	C>T	Pathogenic	Intron variant, non coding transcript variant, stop gained, coding sequence variant
rs137853284	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs137853285	C>T	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs137853287	G>-,GG	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs138427376	A>C,G	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs140708492	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs143556945	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs145798966	G>A	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Non coding transcript variant, coding sequence variant, synonymous variant
rs146303208	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs148399850	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs181250704	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs184388696	C>A,T	Likely-pathogenic	Splice donor variant
rs186924074	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant, intron variant
rs187200982	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs189601972	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant
rs191312027	C>A,T	Pathogenic-likely-pathogenic, uncertain-significance, pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs193922100	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 3 prime UTR variant
rs193922102	A>C,G	Pathogenic-likely-pathogenic	Intron variant
rs193922103	T>C	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs193922104	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs193922107	G>A	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs193922109	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs193922110	C>G,T	Pathogenic-likely-pathogenic, likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs193922111	A>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, intron variant
rs199623434	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs199821556	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs200450017	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs200606656	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs200911496	T>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs200996053	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, non coding transcript variant, synonymous variant
rs201038679	G>A,T	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201254466	G>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant, intron variant
rs201497300	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs201738967	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs367956522	T>C	Pathogenic-likely-pathogenic, pathogenic	Splice acceptor variant, intron variant
rs370579582	C>A,T	Pathogenic, uncertain-significance, likely-pathogenic	Intron variant
rs371840514	G>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs372436901	T>C,G	Uncertain-significance, pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs372979339	G>A	Likely-benign, benign, likely-pathogenic	Coding sequence variant, non coding transcript variant, synonymous variant, intron variant
rs373081328	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs374094065	T>G	Pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs375007352	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs376355660	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs376910645	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs377267217	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs377297166	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs398123137	A>T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, intron variant
rs540935874	C>G,T	Likely-pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs541208827	C>T	Likely-pathogenic, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs558037268	TT>-,TTT	Pathogenic, pathogenic-likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs560952220	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs568009639	T>G	Pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs572147914	G>A,T	Benign, pathogenic	Intron variant, non coding transcript variant, stop gained, synonymous variant, coding sequence variant
rs587783299	C>G	Uncertain-significance, pathogenic-likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs587783301	T>C	Uncertain-significance, likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs587783306	C>T	Pathogenic-likely-pathogenic	Intron variant, splice donor variant
rs587783307	T>C,G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs587783309	G>A	Benign, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs587783315	G>A,C	Conflicting-interpretations-of-pathogenicity, benign	Non coding transcript variant, missense variant, coding sequence variant
rs587783317	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs587783318	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs746485916	G>A,C	Pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs748819198	C>T	Likely-pathogenic	Splice donor variant
rs748924063	->A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs749085322	T>C	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs749472361	G>A,C	Pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs750019452	G>A	Pathogenic-likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs751078884	C>G,T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs751202110	G>A,C,T	Pathogenic, likely-benign	Intron variant, non coding transcript variant, stop gained, synonymous variant, coding sequence variant
rs751287778	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs751710854	G>A	Pathogenic-likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs751798708	A>C	Likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs752850609	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs753236073	G>A,T	Uncertain-significance, pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, stop gained, missense variant, coding sequence variant
rs753250853	A>T	Pathogenic-likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs753594031	C>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs753962912	AT>-	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs755554442	G>A,C	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs755584106	G>A,C,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs755709270	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs756029120	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs756929892	G>A,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs757265256	T>C	Likely-pathogenic	Splice acceptor variant
rs758355520	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs759749626	A>T	Likely-pathogenic	Splice donor variant
rs761084829	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, intron variant, missense variant
rs761632029	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs762031690	G>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs764131178	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs764551529	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs766149114	C>G,T	Pathogenic-likely-pathogenic, likely-pathogenic	Splice donor variant
rs768671894	G>A	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs768729972	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant, intron variant
rs769484789	C>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs770020484	C>A,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs770829226	A>C	Pathogenic-likely-pathogenic	Intron variant
rs771603301	CA>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs773385516	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, stop gained
rs774028495	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs774221179	G>A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs775055397	G>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs775541743	A>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs776280797	C>T	Pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs776572343	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs776848753	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs777362050	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs777629392	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs778490238	G>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs778675259	G>T	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs778749563	C>A,G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs778825095	C>T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs779323689	C>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs779494870	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs779904655	CATATAG>-	Pathogenic	Coding sequence variant, stop gained, intron variant, non coding transcript variant
rs780327716	A>-	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs781266802	GAACCA>-	Pathogenic-likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs781531824	->A	Conflicting-interpretations-of-pathogenicity	Splice donor variant
rs786204483	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs786204547	C>G,T	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs786204570	->G	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs786204578	G>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs786204584	T>C	Likely-pathogenic	Splice acceptor variant
rs786204643	C>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs786204658	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs786204718	C>T	Pathogenic, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs786204764	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs797045083	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs797045402	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs863224848	G>C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs886041336	G>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886042519	CCC>-,CC	Pathogenic, uncertain-significance, likely-pathogenic	Frameshift variant, coding sequence variant, inframe deletion, non coding transcript variant
rs886043238	->GACCT	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs886043423	->A	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs911589273	T>A	Likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, stop gained
rs964976261	->C	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs996419100	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs1023530194	TT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1038582488	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1045194246	A>C,T	Pathogenic-likely-pathogenic	Intron variant
rs1057516227	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516228	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516305	C>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1057516380	G>T	Likely-pathogenic	Coding sequence variant, intron variant, stop gained, non coding transcript variant
rs1057516418	->A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1057516425	C>T	Likely-pathogenic	Splice donor variant
rs1057516479	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1057516516	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant, stop gained, non coding transcript variant
rs1057516561	->G	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516643	A>-	Pathogenic-likely-pathogenic, pathogenic	Coding sequence variant, intron variant, frameshift variant, non coding transcript variant
rs1057516732	C>-	Likely-pathogenic	Coding sequence variant, splice donor variant, non coding transcript variant
rs1057516740	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516844	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1057516893	C>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057516940	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057517024	T>C	Likely-pathogenic	Splice acceptor variant
rs1057517141	->AA	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057517191	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057517233	T>C	Pathogenic	Splice acceptor variant
rs1057517310	C>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1057517351	C>A	Likely-pathogenic	Splice acceptor variant
rs1057517384	->GC	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057517444	TTTG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1057518867	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1057520235	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1060499593	CACT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064796054	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1064797072	C>A	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1085307057	G>A	Pathogenic	Coding sequence variant, intron variant, stop gained, non coding transcript variant
rs1131691741	T>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1176709391	TTGGGAG>-	Likely-pathogenic, pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1180133690	->T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, intron variant
rs1213481140	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1248002612	T>C	Likely-pathogenic	Intron variant
rs1286080173	G>A,C	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1319653818	C>G,T	Likely-pathogenic	Intron variant, splice acceptor variant
rs1331370011	TCT>C,T	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1340942427	G>A,T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1345848733	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1360279134	C>A,G,T	Pathogenic	Splice donor variant
rs1377418826	T>C,G	Pathogenic	Splice acceptor variant
rs1394999756	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1412025509	A>G	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1412593296	G>A	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs1445951068	AT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1449610384	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs1455758826	T>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1474837260	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained, intron variant
rs1486594906	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555282191	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555282316	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555282347	T>C	Likely-pathogenic	Splice acceptor variant
rs1555282816	T>G	Likely-pathogenic	Splice acceptor variant
rs1555283564	T>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555283900	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555283916	T>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555283994	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555284021	C>T	Likely-pathogenic	Splice acceptor variant
rs1555285311	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555285380	T>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555285830	GCTC>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555285891	T>C,G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555286522	->G	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555286628	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555286633	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1555287300	->G	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555288385	AAACCGA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1555288479	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1555288808	GC>A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555290800	A>C	Likely-pathogenic	Splice donor variant
rs1555290810	TTA>AT	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555290925	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1555291147	T>C	Pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1555291195	GA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1555291207	->A	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1555291285	C>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1555291784	AGAA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1555291801	C>A	Pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1555291848	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1555291870	->TA,TATA	Likely-pathogenic, pathogenic	Frameshift variant, coding sequence variant, intron variant, non coding transcript variant
rs1555293357	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555294199	CCCACAGTACTTACTGTCAGCTCA>-	Likely-pathogenic	Coding sequence variant, splice donor variant, intron variant, non coding transcript variant
rs1555294398	T>G	Likely-pathogenic	Splice acceptor variant
rs1555295017	->C	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555296015	ATT>TATA	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1555296356	G>A	Likely-pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1555296414	->A	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1555296472	A>C	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1555296939	->A	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1566441447	AAAT>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1566462533	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1566468784	->TGGCACTGCCTGGC	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1566468816	ACA>TGGCACTGCCTGGCACT	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1566498495	G>T	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1566532164	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1566560096	TCCCTGTGATCTGCAACACAGGATGGCAAGAATCCCA>-	Pathogenic	Non coding transcript variant, coding sequence variant, splice acceptor variant, intron variant
rs1566580253	A>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1566598496	CTTACAA>-	Pathogenic	Splice donor variant, intron variant, frameshift variant, coding sequence variant, non coding transcript variant
rs1593645393	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1593646131	->TG	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1593671769	A>G	Likely-pathogenic	Splice donor variant
rs1593672840	C>G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1593681941	T>-	Pathogenic	Splice acceptor variant
rs1593726081	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant, non coding transcript variant
rs1593726648	G>-	Pathogenic	Stop gained, coding sequence variant, intron variant, non coding transcript variant
rs1593733949	A>T	Likely-pathogenic	Intron variant
rs1593775055	TTGCAGGGAGCCTCCCA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant
rs1593787789	CC>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT027481	hsa-miR-98-5p	Microarray	19088304
MIRT029106	hsa-miR-26b-5p	Microarray	19088304
MIRT050131	hsa-miR-26a-5p	CLASH	23622248
MIRT050033	hsa-miR-27a-3p	CLASH	23622248
MIRT046616	hsa-miR-222-3p	CLASH	23622248
MIRT046229	hsa-miR-27b-3p	CLASH	23622248
MIRT039780	hsa-miR-615-3p	CLASH	23622248
MIRT039602	hsa-miR-616-5p	CLASH	23622248
MIRT809606	hsa-miR-1238	CLIP-seq
MIRT809607	hsa-miR-1322	CLIP-seq
MIRT809608	hsa-miR-1324	CLIP-seq
MIRT809609	hsa-miR-3186-5p	CLIP-seq
MIRT809610	hsa-miR-3922-5p	CLIP-seq
MIRT809611	hsa-miR-4330	CLIP-seq
MIRT809612	hsa-miR-4452	CLIP-seq
MIRT809613	hsa-miR-4457	CLIP-seq
MIRT809614	hsa-miR-4684-5p	CLIP-seq
MIRT809615	hsa-miR-4691-5p	CLIP-seq
MIRT809616	hsa-miR-4717-3p	CLIP-seq
MIRT809617	hsa-miR-4724-5p	CLIP-seq
MIRT809618	hsa-miR-4731-3p	CLIP-seq
MIRT809619	hsa-miR-4753-5p	CLIP-seq
MIRT809620	hsa-miR-4755-3p	CLIP-seq
MIRT809621	hsa-miR-4801	CLIP-seq
MIRT809622	hsa-miR-494	CLIP-seq
MIRT809623	hsa-let-7a	CLIP-seq
MIRT809624	hsa-let-7b	CLIP-seq
MIRT809625	hsa-let-7c	CLIP-seq
MIRT809626	hsa-let-7d	CLIP-seq
MIRT809627	hsa-let-7e	CLIP-seq
MIRT809628	hsa-let-7f	CLIP-seq
MIRT809629	hsa-let-7g	CLIP-seq
MIRT809630	hsa-let-7i	CLIP-seq
MIRT809631	hsa-miR-1207-3p	CLIP-seq
MIRT809632	hsa-miR-122	CLIP-seq
MIRT809633	hsa-miR-1228	CLIP-seq
MIRT809634	hsa-miR-1276	CLIP-seq
MIRT809635	hsa-miR-1286	CLIP-seq
MIRT809607	hsa-miR-1322	CLIP-seq
MIRT809636	hsa-miR-202	CLIP-seq
MIRT809637	hsa-miR-203	CLIP-seq
MIRT809638	hsa-miR-2355-5p	CLIP-seq
MIRT809639	hsa-miR-25	CLIP-seq
MIRT809640	hsa-miR-3125	CLIP-seq
MIRT809641	hsa-miR-3135b	CLIP-seq
MIRT809642	hsa-miR-32	CLIP-seq
MIRT809643	hsa-miR-3616-5p	CLIP-seq
MIRT809644	hsa-miR-3622a-3p	CLIP-seq
MIRT809645	hsa-miR-3622b-3p	CLIP-seq
MIRT809646	hsa-miR-363	CLIP-seq
MIRT809647	hsa-miR-3647-5p	CLIP-seq
MIRT809648	hsa-miR-3652	CLIP-seq
MIRT809649	hsa-miR-367	CLIP-seq
MIRT809650	hsa-miR-383	CLIP-seq
MIRT809651	hsa-miR-3916	CLIP-seq
MIRT809652	hsa-miR-4267	CLIP-seq
MIRT809653	hsa-miR-4269	CLIP-seq
MIRT809654	hsa-miR-4307	CLIP-seq
MIRT809655	hsa-miR-4311	CLIP-seq
MIRT809656	hsa-miR-4318	CLIP-seq
MIRT809611	hsa-miR-4330	CLIP-seq
MIRT809657	hsa-miR-4430	CLIP-seq
MIRT809658	hsa-miR-4447	CLIP-seq
MIRT809659	hsa-miR-4458	CLIP-seq
MIRT809660	hsa-miR-4472	CLIP-seq
MIRT809661	hsa-miR-4481	CLIP-seq
MIRT809662	hsa-miR-4492	CLIP-seq
MIRT809663	hsa-miR-4498	CLIP-seq
MIRT809664	hsa-miR-4500	CLIP-seq
MIRT809665	hsa-miR-4656	CLIP-seq
MIRT809666	hsa-miR-4722-5p	CLIP-seq
MIRT809667	hsa-miR-4745-5p	CLIP-seq
MIRT809668	hsa-miR-4760-5p	CLIP-seq
MIRT809669	hsa-miR-4772-5p	CLIP-seq
MIRT809670	hsa-miR-483-3p	CLIP-seq
MIRT809622	hsa-miR-494	CLIP-seq
MIRT809671	hsa-miR-508-5p	CLIP-seq
MIRT809672	hsa-miR-543	CLIP-seq
MIRT809673	hsa-miR-544b	CLIP-seq
MIRT809674	hsa-miR-545	CLIP-seq
MIRT809675	hsa-miR-548g	CLIP-seq
MIRT809676	hsa-miR-570	CLIP-seq
MIRT809677	hsa-miR-573	CLIP-seq
MIRT809678	hsa-miR-576-5p	CLIP-seq
MIRT809679	hsa-miR-577	CLIP-seq
MIRT809680	hsa-miR-583	CLIP-seq
MIRT809681	hsa-miR-762	CLIP-seq
MIRT809682	hsa-miR-766	CLIP-seq
MIRT809683	hsa-miR-873	CLIP-seq
MIRT809684	hsa-miR-877	CLIP-seq
MIRT809685	hsa-miR-92a	CLIP-seq
MIRT809686	hsa-miR-92b	CLIP-seq
MIRT809687	hsa-miR-98	CLIP-seq
MIRT809623	hsa-let-7a	CLIP-seq
MIRT809624	hsa-let-7b	CLIP-seq
MIRT809625	hsa-let-7c	CLIP-seq
MIRT809626	hsa-let-7d	CLIP-seq
MIRT809627	hsa-let-7e	CLIP-seq
MIRT809628	hsa-let-7f	CLIP-seq
MIRT809629	hsa-let-7g	CLIP-seq
MIRT809630	hsa-let-7i	CLIP-seq
MIRT2178274	hsa-miR-1197	CLIP-seq
MIRT809631	hsa-miR-1207-3p	CLIP-seq
MIRT809633	hsa-miR-1228	CLIP-seq
MIRT809634	hsa-miR-1276	CLIP-seq
MIRT2178275	hsa-miR-1285	CLIP-seq
MIRT809635	hsa-miR-1286	CLIP-seq
MIRT809607	hsa-miR-1322	CLIP-seq
MIRT2178276	hsa-miR-139-5p	CLIP-seq
MIRT2178277	hsa-miR-140-3p	CLIP-seq
MIRT809636	hsa-miR-202	CLIP-seq
MIRT809637	hsa-miR-203	CLIP-seq
MIRT809638	hsa-miR-2355-5p	CLIP-seq
MIRT2178278	hsa-miR-29a	CLIP-seq
MIRT2178279	hsa-miR-29b	CLIP-seq
MIRT2178280	hsa-miR-29c	CLIP-seq
MIRT2178281	hsa-miR-30a	CLIP-seq
MIRT2178282	hsa-miR-30b	CLIP-seq
MIRT2178283	hsa-miR-30c	CLIP-seq
MIRT2178284	hsa-miR-30d	CLIP-seq
MIRT2178285	hsa-miR-30e	CLIP-seq
MIRT2178286	hsa-miR-3187-5p	CLIP-seq
MIRT2178287	hsa-miR-3607-3p	CLIP-seq
MIRT809644	hsa-miR-3622a-3p	CLIP-seq
MIRT809645	hsa-miR-3622b-3p	CLIP-seq
MIRT2178288	hsa-miR-3660	CLIP-seq
MIRT2178289	hsa-miR-3662	CLIP-seq
MIRT2178290	hsa-miR-3675-5p	CLIP-seq
MIRT809650	hsa-miR-383	CLIP-seq
MIRT2178291	hsa-miR-3921	CLIP-seq
MIRT809652	hsa-miR-4267	CLIP-seq
MIRT809653	hsa-miR-4269	CLIP-seq
MIRT2178292	hsa-miR-4275	CLIP-seq
MIRT809655	hsa-miR-4311	CLIP-seq
MIRT809656	hsa-miR-4318	CLIP-seq
MIRT2178293	hsa-miR-432	CLIP-seq
MIRT809611	hsa-miR-4330	CLIP-seq
MIRT2178294	hsa-miR-4438	CLIP-seq
MIRT809659	hsa-miR-4458	CLIP-seq
MIRT2178295	hsa-miR-4470	CLIP-seq
MIRT809664	hsa-miR-4500	CLIP-seq
MIRT2178296	hsa-miR-4505	CLIP-seq
MIRT2178297	hsa-miR-4526	CLIP-seq
MIRT2178298	hsa-miR-455-3p	CLIP-seq
MIRT2178299	hsa-miR-4649-3p	CLIP-seq
MIRT2178300	hsa-miR-4653-5p	CLIP-seq
MIRT809666	hsa-miR-4722-5p	CLIP-seq
MIRT809668	hsa-miR-4760-5p	CLIP-seq
MIRT809669	hsa-miR-4772-5p	CLIP-seq
MIRT809670	hsa-miR-483-3p	CLIP-seq
MIRT2178301	hsa-miR-486-3p	CLIP-seq
MIRT809622	hsa-miR-494	CLIP-seq
MIRT2178302	hsa-miR-498	CLIP-seq
MIRT2178303	hsa-miR-502-5p	CLIP-seq
MIRT809671	hsa-miR-508-5p	CLIP-seq
MIRT2178304	hsa-miR-520a-5p	CLIP-seq
MIRT2178305	hsa-miR-525-5p	CLIP-seq
MIRT809672	hsa-miR-543	CLIP-seq
MIRT809673	hsa-miR-544b	CLIP-seq
MIRT809674	hsa-miR-545	CLIP-seq
MIRT809675	hsa-miR-548g	CLIP-seq
MIRT809679	hsa-miR-577	CLIP-seq
MIRT809680	hsa-miR-583	CLIP-seq
MIRT2178306	hsa-miR-612	CLIP-seq
MIRT809682	hsa-miR-766	CLIP-seq
MIRT809687	hsa-miR-98	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0000166	Function	Nucleotide binding	IEA
GO:0005375	Function	Copper ion transmembrane transporter activity	IDA	26004889
GO:0005375	Function	Copper ion transmembrane transporter activity	IEA
GO:0005507	Function	Copper ion binding	IBA
GO:0005507	Function	Copper ion binding	IDA	12029094, 14709553
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12968035, 16554302, 16676348, 16884690, 17919502
GO:0005524	Function	ATP binding	IDA	15205462, 16567646
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IDA	15681833
GO:0005770	Component	Late endosome	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IDA	15269005, 16472602
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	TAS	8298641
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006825	Process	Copper ion transport	IDA	26004889
GO:0006825	Process	Copper ion transport	IEA
GO:0006825	Process	Copper ion transport	IEA
GO:0006825	Process	Copper ion transport	IGI	12572677, 26004889
GO:0006825	Process	Copper ion transport	IMP	9837819
GO:0006878	Process	Intracellular copper ion homeostasis	IBA
GO:0006878	Process	Intracellular copper ion homeostasis	IEA
GO:0006878	Process	Intracellular copper ion homeostasis	TAS	16554302
GO:0006882	Process	Intracellular zinc ion homeostasis	IEA
GO:0007595	Process	Lactation	IEA
GO:0015677	Process	Copper ion import	IBA
GO:0015677	Process	Copper ion import	IDA	16472602
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	15269005
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	IEA
GO:0031410	Component	Cytoplasmic vesicle	IDA	16472602
GO:0032588	Component	Trans-Golgi network membrane	IDA	9837819
GO:0032588	Component	Trans-Golgi network membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	TAS
GO:0043682	Function	P-type divalent copper transporter activity	IBA
GO:0043682	Function	P-type divalent copper transporter activity	IEA
GO:0043682	Function	P-type divalent copper transporter activity	IMP	9837819
GO:0043682	Function	P-type divalent copper transporter activity	NAS	12763797
GO:0043682	Function	P-type divalent copper transporter activity	TAS	16472602
GO:0046688	Process	Response to copper ion	IDA	15269005, 16472602, 16939419
GO:0046688	Process	Response to copper ion	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	16939419
GO:0051208	Process	Sequestering of calcium ion	IDA	16472602
GO:0051604	Process	Protein maturation	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060003	Process	Copper ion export	IBA
GO:0075523	Process	Viral translational frameshifting	IEA
GO:0140581	Function	P-type monovalent copper transporter activity	IEA
GO:1990961	Process	Xenobiotic detoxification by transmembrane export across the plasma membrane	IC	9837819

Other IDs

• MIM: 606882
• HGNC: 870
• e!Ensembl: ENSG00000123191

Protein

• UniProt ID: P35670
• Protein name: Copper-transporting ATPase 2 (EC 7.2.2.8) (Copper pump 2) (Wilson disease-associated protein) [Cleaved into: WND/140 kDa]
• Protein function: Copper ion transmembrane transporter involved in the export of copper out of the cells. It is involved in copper homeostasis in the liver, where it ensures the efflux of copper from hepatocytes into the bile in response to copper overload. {ECO:
• PDB: 2ARF, 2EW9, 2KOY, 2LQB, 2N7Y, 2ROP, 6A71, 6A72, 7XUK, 7XUM, 7XUN, 7XUO, 8IOY
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00403	HMA	61 → 122	Heavy-metal-associated domain	Domain
  PF00403	HMA	146 → 207	Heavy-metal-associated domain	Domain
  PF00403	HMA	260 → 320	Heavy-metal-associated domain	Domain
  PF00403	HMA	362 → 423	Heavy-metal-associated domain	Domain
  PF00403	HMA	491 → 552	Heavy-metal-associated domain	Domain
  PF00403	HMA	567 → 628	Heavy-metal-associated domain	Domain
  PF00122	E1-E2_ATPase	797 → 1005		Family
  PF00702	Hydrolase	1021 → 1279		Domain

• Tissue specificity: TISSUE SPECIFICITY: Most abundant in liver and kidney and also found in brain. Isoform 2 is expressed in brain but not in liver. The cleaved form WND/140 kDa is found in liver cell lines and other tissues.
• Sequence:

  MPEQERQITAREGASRKILSKLSLPTRAWEPAMKKSFAFDNVGYEGGLDGLGPSSQVATS
  TVRILGMTCQSCVKSIEDRISNLKGIISMKVSLEQGSATVKYVPSVVCLQQVCHQIGDMG
  FEASIAEGKAASWPSRSLPAQEAVVKLRVEGMTCQSCVSSIEGKVRKLQGVVRVKVSLSN
  QEAVITYQPYLIQPEDLRDHVNDMGFEAAIKSKVAPLSLGPIDIERLQSTNPKRPLSSAN
  QNFNNSETLGHQGSHVVTLQLRIDGMHCKSCVLNIEENIGQLLGVQSIQVSLENKTAQVK
  YDPSCTSPVALQRAIEALPPGNFKVSLPDGAEGSGTDHRSSSSHSPGSPPRNQVQGTCST
  TLIAIAGMTCASCVHSIEGMISQLEGVQQISVSLAEGTATVLYNPSVISPEELRAAIEDM
  GFEASVVSESCSTNPLGNHSAGNSMVQTTDGTPTSVQEVAPHTGRLPANHAPDILAKSPQ
  STRAVAPQKCFLQIKGMTCASCVSNIERNLQKEAGVLSVLVALMAGKAEIKYDPEVIQPL
  EIAQFIQDLGFEAAVMEDYAGSDGNIELTITGMTCASCVHNIESKLTRTNGITYASVALA
  TSKALVKFDPEIIGPRDIIKIIEEIGFHASLAQRNPNAHHLDHKMEIKQWKKSFLCSLVF
  GIPVMALMIYMLIPSNEPHQSMVLDHNIIPGLSILNLIFFILCTFVQLLGGWYFYVQAYK
  SLRHRSANMDVLIVLATSIAYVYSLVILVVAVAEKAERSPVTFFDTPPMLFVFIALGRWL
  EHLAKSKTSEALAKLMSLQATEATVVTLGEDNLIIREEQVPMELVQRGDIVKVVPGGKFP
  VDGKVLEGNTMADESLITGEAMPVTKKPGSTVIAGSINAHGSVLIKATHVGNDTTLAQIV
  KLVEEAQMSKAPIQQLADRFSGYFVPFIIIMSTLTLVVWIVIGFIDFGVVQRYFPNPNKH
  ISQTEVIIRFAFQTSITVLCIACPCSLGLATPTAVMVGTGVAAQNGILIKGGKPLEMAHK
  IKTVMFDKTGTITHGVPRVMRVLLLGDVATLPLRKVLAVVGTAEASSEHPLGVAVTKYCK
  EELGTETLGYCTDFQAVPGCGIGCKVSNVEGILAHSERPLSAPASHLNEAGSLPAEKDAV
  PQTFSVLIGNREWLRRNGLTISSDVSDAMTDHEMKGQTAILVAIDGVLCGMIAIADAVKQ
  EAALAVHTLQSMGVDVVLITGDNRKTARAIATQVGINKVFAEVLPSHKVAKVQELQNKGK
  KVAMVGDGVNDSPALAQADMGVAIGTGTDVAIEAADVVLIRNDLLDVVASIHLSKRTVRR
  IRINLVLALIYNLVGIPIAAGVFMPIGIVLQPWMGSAAMAASSVSVVLSSLQLKCYKKPD
  LERYEAQAHGHMKPLTASQVSVHIGMDDRWRDSPRATPWDQVSYVSQVSLSSLTSDKPSR
  HSAAADDDGDKWSLLLNGRDEEQYI

• Sequence length: 1465

Pathways

KEGG:

Platinum drug resistance
Mineral absorption

Reactome:

Ion transport by P-type ATPases

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of metabolism/homeostasis	Likely pathogenic; Pathogenic	rs775055397	RCV001814079	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATP7B-related disorder	Likely pathogenic; Pathogenic	rs201738967, rs587783299, rs191312027, rs749472361, rs755554442, rs753250853, rs786204584, rs371840514, rs750019452, rs367956522, rs572147914, rs558037268, rs28942074, rs121907990, rs121907996, rs121907998, rs2547716462, rs746485916, rs121907993, rs193922102, rs72552255, rs193922109, rs137853287, rs1038582488, rs1360279134	RCV004751288 RCV004751289 RCV003415974 RCV004751319 RCV003422061 RCV003907530 RCV004730892 RCV003390880 RCV004751314 RCV003927563 RCV004751316 RCV003398867 RCV003398441 RCV003904803 RCV003904804 RCV003398442 RCV003420891 RCV004751452 RCV004751454 RCV003398570 RCV003924861 RCV004751225 RCV003905331 RCV003420191 RCV003907929 RCV003411660	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Breast-ovarian cancer, familial, susceptibility to, 5	Likely pathogenic; Pathogenic	rs751710854	RCV004813069	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy 93	Pathogenic	rs137853280	RCV005411279	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epileptic encephalopathy	Pathogenic	rs201497300	RCV000415237	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cancer of breast	Likely pathogenic; Pathogenic	rs184388696, rs759749626	RCV005889646 RCV005889648	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hand tremor	Likely pathogenic	rs1057518867	RCV000415306	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive 109	Pathogenic	rs72552255	RCV005411298	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability, Wolff type	Likely pathogenic; Pathogenic	rs572147914	RCV001823123	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kayser-Fleischer ring	Likely pathogenic	rs1057518867	RCV000415306	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lung cancer	Likely pathogenic; Pathogenic	rs184388696	RCV005898600	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Pathogenic	rs753962912	RCV001640260	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Wilson disease	Pathogenic; Likely pathogenic	rs1957904411, rs1321980462, rs1257330000, rs2139201007, rs1958764803, rs2138386032, rs1957032734, rs201738147, rs2138953252, rs1395504465, rs1957519682, rs747584649, rs1377418826, rs2139212032, rs964976261, rs1369012080, rs1566559605, rs763051801, rs2140071850, rs2140073366, rs2140100738, rs1952043099, rs1954023351, rs2138414735, rs1293549383, rs2138576515, rs2138578550, rs2138667313, rs2138775370, rs541208827, rs1555286633, rs2139207205, rs2139228853, rs2139505830, rs2139767189, rs2139767694, rs2139883798, rs1179062239, rs1951795080, rs2139975409, rs2140066737, rs2140072323, rs2140096946, rs2140103906, rs2140114949, rs2138958110, rs1958503241, rs142187604, rs2138947313, rs201497300, rs1476409946, rs137853282, rs959916899, rs2139777345, rs780389157, rs2138950870, rs767218895, rs2138586206, rs2139503242, rs760285767, rs2140117236, rs2138851041, rs2138580919, rs2139201690, rs2138674428, rs191312027, rs751235573, rs2140096995, rs1957397703, rs1230241288, rs776668666, rs780955130, rs746637821, rs1956914257, rs1057516844, rs1951990899, rs1566444909, rs2139890297, rs200911496, rs1462451206, rs1957924589, rs1248002612, rs2139612433, rs2140096745, rs2138560807, rs2139775159, rs377001615, rs2139220914, rs1319653818, rs2140069931, rs2140768125, rs779494870, rs2138574560, rs1397083296, rs751078884, rs776002066, rs2138661836, rs1957668488, rs1360279134, rs1956866547, rs1057517310, rs2138859417, rs2140103116, rs1951686649, rs1958431105, rs2140091906, rs1194199486, rs2140073872, rs2138857747, rs2139193234, rs2138787759, rs2138407151, rs1316032472, rs121907996, rs2140080841, rs2138854011, rs2139669739, rs2138671758, rs2139062378, rs2140098691, rs886042519, rs2139962593, rs2138571104, rs181388674, rs2138673853, rs2139960322, rs755012990, rs1405260211, rs2139212289, rs2138948876, rs2139208029, rs774769813, rs2139975355, rs137853285, rs137853284, rs137853283, rs121907990, rs201738967, rs587783299, rs587783306, rs587783317, rs1957388064, rs2139054241, rs2139209584, rs2139045834, rs2547793353, rs2547565028, rs2547647055, rs2547823060, rs2547794264, rs2547600885, rs2547584343, rs2547647636, rs2547569906, rs2547647906, rs2547822465, rs2547824925, rs2547569054, rs755267357, rs2547753785, rs2547670195, rs777362050, rs2547818656, rs2547820642, rs2547779339, rs2547568707, rs2547612821, rs2547645550, rs2547646750, rs1468895797, rs764592601, rs2547670422, rs2547823042, rs2547753650, rs2547821975, rs2547792957, rs2547793475, rs2547821915, rs2547825108, rs776848753, rs786204578, rs749472361, rs758355520, rs781266802, rs776280797, rs786204658, rs184388696, rs786204547, rs748924063, rs756029120, rs755554442, rs786204483, rs753250853, rs786204584, rs371840514, rs775055397, rs201038679, rs779323689, rs750019452, rs367956522, rs786204718, rs766149114, rs755709270, rs768671894, rs751710854, rs786204764, rs779904655, rs72552285, rs780327716, rs753962912, rs759749626, rs572147914, rs786204570, rs558037268, rs774221179, rs753236073, rs786204643, rs2547542207, rs2547550958, rs748644391, rs765139243, rs2547628568, rs1448968475, rs1057518867, rs1337256944, rs1052485948, rs1957901268, rs1403129366, rs1452859057, rs2547709665, rs2536829958, rs753758073, rs1951978776, rs76151636, rs121907992, rs137853280, rs121907994, rs28942074, rs2138570625, rs28942075, rs28942076, rs121907993, rs121907997, rs121907998, rs60431989, rs121907999, rs121908000, rs121908001, rs2547539694, rs2547541005, rs753594031, rs2547819753, rs2547563651, rs935426164, rs2547715854, rs1957898729, rs2547825080, rs2547542223, rs375542827, rs797045083, rs2547323392, rs2547565429, rs2547667199, rs1957051870, rs942967963, rs2547816464, rs2547674600, rs2547543720, rs768729972, rs797045402, rs2547563850, rs2547752366, rs2547323808, rs1555285891, rs1956910096, rs2547716554, rs2547709820, rs2547646291, rs2547665922, rs2547817654, rs2547822680, rs750154146, rs1085307057, rs1290927406, rs2547627436, rs2547716328, rs2547582919, rs2547599465, rs886041336, rs2547567835, rs886043423, rs2547626863, rs2547671027, rs764041557, rs779669186, rs773601432, rs764108297, rs2547752969, rs1342474321, rs1566603492, rs2547715484, rs2547568904, rs2547716337, rs2547551142, rs2547777899, rs2547599435, rs1957053765, rs1952001328, rs2547818100, rs2547714364, rs2547599575, rs2547826614, rs2547753077, rs2547674050, rs2547825848, rs2547542768, rs2547794793, rs2547792647, rs1957900892, rs2547715193, rs2547823465, rs2547814506, rs1958647126, rs750078271, rs1555294398, rs2547793888, rs1957309883, rs2547613856, rs2547817547, rs1469425216, rs2547599807, rs1334355798, rs2547646511, rs2547734539, rs2547795485, rs780361833, rs2547569101, rs2547715052, rs2547541937, rs2547612738, rs2547793319, rs2547644949, rs2547794910, rs2547715622, rs2140096468, rs2547714850, rs2547818839, rs2547709703, rs1431633756, rs2547564954, rs2547584635, rs2547628381, rs2547629434, rs2547793038, rs771654032, rs2547539500, rs2547647866, rs2547816289, rs2547778015, rs2547613268, rs2547816098, rs2547543832, rs2547716524, rs2547815959, rs1957045038, rs1341172185, rs1387431334, rs2547824218, rs2547673500, rs2547825208, rs2547671469, rs2547673846, rs2547793496, rs2547551611, rs1057517351, rs2547819511, rs2547778823, rs780486131, rs2547613029, rs2547628344, rs2547825885, rs2547611952, rs2547778738, rs1958493213, rs2547714818, rs1593787510, rs2547583314, rs1951463905, rs2547715376, rs746485916, rs2547611249, rs749171049, rs2547715234, rs1957514480, rs2547725567, rs2547826484, rs2547611792, rs1322206611, rs2547814405, rs1958499640, rs1593722956, rs2547716254, rs2547674422, rs2547583270, rs2547725494, rs2547779453, rs1952025232, rs764131178, rs369488210, rs2547819253, rs2547819269, rs1162659137, rs2547569168, rs746662232, rs764603742, rs2547820845, rs2547753845, rs2547613379, rs2547601130, rs2547647921, rs2547709728, rs2547725052, rs2547777444, rs2547674633, rs2547813787, rs1957309469, rs2547645844, rs1057517191, rs755584106, rs771603301, rs1057516228, rs1057516227, rs1057517233, rs1057516740, rs1057516479, rs761632029, rs374094065, rs1057516643, rs1057516425, rs1057516732, rs1057516380, rs1057516940, rs1057516893, rs1057517024, rs1057516418, rs778675259, rs1057516305, rs1057517444, rs1057517141, rs1057517384, rs1057516561, rs1057516516, rs1057520235, rs137853279, rs1060499593, rs1064796054, rs1064797072, rs560952220, rs193922102, rs193922103, rs72552255, rs193922107, rs193922109, rs193922110, rs193922111, rs137853287, rs1555291147, rs1555287300, rs1394999756, rs751287778, rs1286080173, rs770829226, rs1176709391, rs1555285380, rs1555283732, rs1555288808, rs1555282816, rs373748155, rs778914828, rs1555283994, rs1555284021, rs568009639, rs1555285311, rs1555285911, rs762031690, rs1038582488, rs1555290810, rs1555290925, rs751798708, rs1180133690, rs1555291285, rs1555291784, rs1474837260, rs1484840087, rs1555282316, rs769484789, rs1486594906, rs1555285830, rs748819198, rs1555286522, rs199623434, rs777629392, rs751202110, rs1555291801, rs1555293357, rs1555294199, rs1555295017, rs1555296356, rs1412593296, rs1555283900, rs778543794, rs1555288385, rs1555288479, rs376355660, rs551030054, rs1555290800, rs770020484, rs1555291870, rs996419100, rs773385516, rs778490238, rs761084829, rs1555296939, rs1555282191, rs780811477, rs1555283564, rs1555283916, rs1213481140, rs376910645, rs1412025509, rs1555286628, rs1045194246, rs757265256, rs1555291195, rs1555291207, rs1212479289, rs1555291848, rs752850609, rs1555296015, rs1555296414, rs1555296472, rs1566560096, rs377144951, rs1566532164, rs1566580253, rs1566441447, rs1566462533, rs1566468784, rs1566468816, rs1331370011, rs1566498495, rs1449610384, rs911589273, rs1566598496, rs1340942427, rs1593672840, rs1455758826, rs1593726648, rs1593787789, rs1445951068, rs1593671769, rs1593726081, rs1593775055, rs1593681941, rs756929892, rs1593733949, rs1023530194, rs1957027467, rs778732681, rs1957160342, rs778163447, rs1228359983, rs1957877283, rs1957898187, rs1958499462, rs1958506321, rs374172791, rs1951995448, rs1952004098, rs1957518966, rs1957520924, rs762866453, rs1957054299, rs1957654399, rs1951985366, rs1957038706, rs1957151787, rs1033235740, rs1957151127, rs1444841250, rs1952018459, rs1958433515, rs753674382, rs1681704644, rs541408630, rs1958765122, rs1952028475, rs1353373400, rs137853281, rs1957043255, rs1957660459, rs1951467428, rs1183423966, rs766906034, rs995516204, rs1957395448, rs1957506216, rs1957512345, rs1957660801, rs780292767, rs1951466736, rs1454088856, rs1951683498, rs1952020122, rs1952034577, rs1952035259, rs577406734, rs1957048901, rs772000260, rs1957048711, rs398123137, rs1957660093, rs1951465769, rs1951680623, rs1566461818	RCV001956403 RCV001366915 RCV001377097 RCV001378125 RCV001377856 RCV001384075 RCV001381117 RCV001381921 RCV001389301 RCV001389302 RCV001380472 RCV001389304 RCV001384960 RCV001381331 RCV001381671 RCV001381673 RCV001381672 RCV001384612 RCV001385918 RCV001386786 RCV001386062 RCV001387146 RCV001381257 RCV001506991 RCV001506990 RCV001507005 RCV001507004 RCV001507003 RCV001506989 RCV001507002 RCV001507001 RCV001507000 RCV001506999 RCV001506987 RCV001506998 RCV001506984 RCV001506986 RCV001506985 RCV001506997 RCV001506996 RCV001507006 RCV001506995 RCV001506994 RCV001506993 RCV001506992 RCV003502595 RCV005094657 RCV001729928 RCV001527076 RCV001527074 RCV001527077 RCV001527078 RCV001527075 RCV001527073 RCV001527072 RCV001530204 RCV001532934 RCV001580637 RCV001582386 RCV001619768 RCV001730171 RCV001785941 RCV001780659 RCV003317794 RCV002545181 RCV002542703 RCV001823703 RCV002002117 RCV001989496 RCV001881506 RCV001991571 RCV002037652 RCV001999923 RCV001991118 RCV001985854 RCV001941665 RCV001951859 RCV001938636 RCV002019460 RCV001950947 RCV001950954 RCV001970185 RCV001946784 RCV001950964 RCV001935723 RCV001954502 RCV002030308 RCV002019924 RCV001976500 RCV001961858 RCV001896180 RCV002009173 RCV001886417 RCV001886445 RCV001980135 RCV001997260 RCV002025718 RCV001926861 RCV002037931 RCV002037934 RCV001993158 RCV001916111 RCV001933665 RCV001942120 RCV001995668 RCV001939532 RCV001899589 RCV004547296 RCV001939721 RCV001951276 RCV001972470 RCV002038029 RCV001951049 RCV001951074 RCV002036164 RCV001970041 RCV001995872 RCV001975006 RCV002018502 RCV001902514 RCV001864857 RCV001932967 RCV001996052 RCV001982927 RCV002008788 RCV001914818 RCV001902199 RCV001958740 RCV002029202 RCV001984737 RCV001890744 RCV001916362 RCV001984040 RCV002012409 RCV000144365 RCV000144367 RCV000144368 RCV000144369 RCV002248978 RCV000145251 RCV000145253 RCV000145263 RCV000145266 RCV000145280 RCV002251695 RCV003455903 RCV002271739 RCV005008508 RCV002306532 RCV002306719 RCV002309546 RCV002309632 RCV002309650 RCV002309673 RCV002309726 RCV002309739 RCV002309898 RCV002309968 RCV002307956 RCV002308008 RCV002308044 RCV002308133 RCV002308318 RCV002308359 RCV002308382 RCV002309009 RCV002309135 RCV002309178 RCV002309181 RCV002309209 RCV002309365 RCV002309437 RCV002309469 RCV002306926 RCV002306967 RCV002306994 RCV002307112 RCV002307304 RCV002307337 RCV002310150 RCV002310276 RCV002308469 RCV003464547 RCV000169268 RCV000169321 RCV000169572 RCV000169558 RCV000169402 RCV000169211 RCV000169453 RCV000169452 RCV000169260 RCV000169520 RCV000169445 RCV000169188 RCV000169142 RCV000169240 RCV000169327 RCV000169019 RCV000169109 RCV000169133 RCV000169179 RCV000169455 RCV000169002 RCV000169025 RCV000169535 RCV000169063 RCV000169237 RCV000169233 RCV000169035 RCV000169151 RCV000169628 RCV000169214 RCV000169521 RCV000169497 RCV000169524 RCV000169532 RCV000169298 RCV000169312 RCV000169375 RCV000169259 RCV000169629 RCV000169428 RCV003062589 RCV003058418 RCV003062591 RCV003062592 RCV003058421 RCV003041192 RCV003041193 RCV003062595 RCV003062596 RCV003062598 RCV003058423 RCV003062599 RCV003041194 RCV003062602 RCV003068971 RCV003073328 RCV000004052 RCV000004053 RCV000004054 RCV000004055 RCV000004056 RCV000004058 RCV000004059 RCV000004060 RCV000004061 RCV000004063 RCV000004064 RCV000004065 RCV000004066 RCV000023582 RCV000004068 RCV000004069 RCV000004070 RCV003087864 RCV003061598 RCV003091894 RCV002619246 RCV002632695 RCV002654687 RCV003111923 RCV003111991 RCV003112286 RCV003112288 RCV002631301 RCV002635194 RCV002618588 RCV002646181 RCV000190567 RCV002802208 RCV002834024 RCV002838676 RCV002870966 RCV002843912 RCV002867199 RCV002881665 RCV002857403 RCV000194439 RCV000193403 RCV002871629 RCV002848383 RCV002857738 RCV002858414 RCV002889935 RCV002918406 RCV002927432 RCV002933630 RCV003002678 RCV003002679 RCV002996807 RCV002996745 RCV003022482 RCV003053767 RCV003059221 RCV003054293 RCV003046592 RCV000490452 RCV003136663 RCV003136752 RCV003136853 RCV003148356 RCV003226770 RCV003227575 RCV001729501 RCV003230978 RCV003233350 RCV000333158 RCV001729508 RCV003314377 RCV003314446 RCV003388390 RCV003404923 RCV003445295 RCV003464949 RCV003464950 RCV003464951 RCV003464952 RCV003464953 RCV003464955 RCV003464956 RCV003464957 RCV003464958 RCV003464959 RCV003464960 RCV003464961 RCV003464962 RCV003464964 RCV003464965 RCV003464966 RCV003464968 RCV003474236 RCV003474237 RCV003474238 RCV003474239 RCV003474240 RCV003474241 RCV003474242 RCV003474243 RCV003464925 RCV003464926 RCV003464928 RCV003464930 RCV003464931 RCV003464932 RCV003464933 RCV003464934 RCV003464936 RCV003464937 RCV003464938 RCV003464939 RCV003464940 RCV003464941 RCV003464942 RCV003464943 RCV003464945 RCV003464948 RCV004574052 RCV003486306 RCV004595709 RCV004595710 RCV003502924 RCV003503462 RCV003502863 RCV003502841 RCV003503512 RCV003503641 RCV003503669 RCV003503765 RCV003503894 RCV003504411 RCV003502202 RCV003504571 RCV003504572 RCV003504573 RCV003504574 RCV003504576 RCV003502178 RCV003502261 RCV003503200 RCV003502483 RCV003503401 RCV003503301 RCV003504017 RCV003503296 RCV003503968 RCV003504063 RCV003609362 RCV003609524 RCV003609543 RCV003609597 RCV003610106 RCV003610165 RCV003610384 RCV003610287 RCV003610275 RCV003610328 RCV003608669 RCV003608663 RCV003608742 RCV003608652 RCV003608865 RCV003608891 RCV003609092 RCV003609132 RCV003610524 RCV003610662 RCV003610723 RCV003610846 RCV003610847 RCV003610833 RCV003609865 RCV003842962 RCV003875359 RCV000308454 RCV003990492 RCV003991515 RCV003991656 RCV004014778 RCV004013137 RCV004013430 RCV004012648 RCV004012692 RCV004013946 RCV004012204 RCV004016916 RCV004016536 RCV004016546 RCV004016558 RCV004018100 RCV004018124 RCV004018125 RCV004018126 RCV004018127 RCV004018128 RCV004018129 RCV000395391 RCV000324263 RCV000388607 RCV004547243 RCV004555804 RCV004560369 RCV004576173 RCV004576174 RCV004576175 RCV004573939 RCV004573942 RCV004573944 RCV004573945 RCV004573946 RCV004573947 RCV004573948 RCV004573949 RCV004573950 RCV004573952 RCV004573953 RCV004577239 RCV004586366 RCV000409938 RCV000411139 RCV000410145 RCV000412369 RCV000410818 RCV000411074 RCV000412326 RCV000412086 RCV000410034 RCV000411652 RCV000410994 RCV000410917 RCV000409795 RCV000411590 RCV000411401 RCV000410970 RCV000411738 RCV000411545 RCV000410735 RCV000411333 RCV000409239 RCV000409626 RCV000411554 RCV000409337 RCV000412377 RCV000412459 RCV000411870 RCV000409526 RCV000410969 RCV000412018 RCV001198322 RCV000667536 RCV001852911 RCV000477923 RCV004003388 RCV000487452 RCV000495835 RCV000029354 RCV000029355 RCV000029359 RCV000029374 RCV000029377 RCV000029378 RCV000029384 RCV000532036 RCV000548917 RCV000543563 RCV000587514 RCV000589178 RCV000587819 RCV000586389 RCV000588787 RCV000586978 RCV000589652 RCV000631236 RCV000631235 RCV000631237 RCV000631233 RCV000631234 RCV000669218 RCV000672804 RCV000668962 RCV000668265 RCV000664525 RCV000670901 RCV000673614 RCV000669922 RCV000666080 RCV000672631 RCV000672614 RCV000674374 RCV000673490 RCV000670854 RCV000666574 RCV000667955 RCV000672351 RCV000669421 RCV000671857 RCV000668906 RCV000665788 RCV000667577 RCV000672957 RCV000674164 RCV000668180 RCV000668464 RCV000672021 RCV000670079 RCV000665943 RCV000670942 RCV000671031 RCV000668761 RCV000667602 RCV000669815 RCV000672954 RCV000667618 RCV000668789 RCV000665298 RCV000671512 RCV000673544 RCV000668650 RCV000671014 RCV000674734 RCV000672253 RCV000673153 RCV000674966 RCV000670601 RCV000665805 RCV000672481 RCV000665586 RCV000665465 RCV000673196 RCV000668824 RCV000670588 RCV000666038 RCV000668116 RCV000668279 RCV000667671 RCV000668453 RCV000665883 RCV000665305 RCV000672441 RCV000673212 RCV000674965 RCV000667057 RCV000673710 RCV000672569 RCV000671462 RCV000666348 RCV000667868 RCV000666566 RCV000673015 RCV000667901 RCV000665279 RCV000673716 RCV000664948 RCV000694922 RCV000707116 RCV000721965 RCV000721966 RCV000755711 RCV001175559 RCV000761257 RCV000761418 RCV000779817 RCV000779818 RCV000780937 RCV000780939 RCV000780926 RCV000780933 RCV000780927 RCV000780938 RCV000824312 RCV000817111 RCV000817129 RCV000796453 RCV000820769 RCV000806274 RCV000816946 RCV000821119 RCV000802352 RCV000816422 RCV000985060 RCV000989143 RCV001001375 RCV001001014 RCV001003497 RCV001004592 RCV003769418 RCV001067199 RCV001036116 RCV001054343 RCV001068702 RCV001063214 RCV001050631 RCV001071453 RCV001070456 RCV001067645 RCV001036016 RCV001069979 RCV001067570 RCV001035506 RCV001068581 RCV001046279 RCV001064049 RCV001110986 RCV003462641 RCV001174602 RCV001174638 RCV001174880 RCV001174942 RCV001174890 RCV001175530 RCV001193692 RCV001193693 RCV001193092 RCV001199062 RCV001221684 RCV001221671 RCV001214559 RCV001209641 RCV001205588 RCV001205711 RCV001213101 RCV001207532 RCV000665644 RCV000169026 RCV001231852 RCV001232496 RCV001236933 RCV001230614 RCV001229956 RCV001250186 RCV001260396 RCV001264317 RCV001263751 RCV001263752 RCV001263753 RCV001263754 RCV001263755 RCV001263756 RCV001263757 RCV001263758 RCV001263829 RCV001263830 RCV001263831 RCV001263832 RCV001267645 RCV001280567 RCV001280593 RCV001285051 RCV001201260 RCV001290264 RCV001290337 RCV001290667 RCV001293508	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anhaptoglobinemia	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC PERSISTENT HEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IP	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 109	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLIPIDEMIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FATTY LIVER, ALCOHOLIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS, CHRONIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATOLENTICULAR DEGENERATION	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, ACUTE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION WOLFF TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasm	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPTIC NEURITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORY PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL CARCINOMA OF HEAD AND NECK	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNIPOLAR DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	19296535		★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	29181760		★☆☆☆☆ Found in Text Mining only
Adrenogenital Syndrome	Adrenogenital Syndrome	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Albinism Oculocutaneous	Oculocutaneous albinism	Pubtator	30558096	Associate	★☆☆☆☆ Found in Text Mining only
Albinism, Oculocutaneous	Oculocutaneous albinism	BEFREE	30558096		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22950421	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anaplastic carcinoma	Anaplastic Carcinoma	CTD_human_DG	11802810, 12216079		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	31010795	Associate	★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anemia, Hemolytic	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	29713820		★☆☆☆☆ Found in Text Mining only
Behavioral tic	Tourette syndrome	BEFREE	29713820		★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	35029214	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	24023303		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11802810		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	11802810		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11802810, 35996075, 37027423, 37180167, 38259456, 39885513, 40316883	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	CTD_human_DG	11802810, 12216079		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma	Carcinoma	BEFREE	12820478, 18636185		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15154620, 27122662, 29674751, 33146201, 35908410, 37612087	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	24023303		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	24852429		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37612087	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	12216079, 19470734, 25591549		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	CTD_human_DG	11802810, 12216079		★☆☆☆☆ Found in Text Mining only
Central Diabetes Insipidus	Diabetes Insipidus	BEFREE	29594489		★☆☆☆☆ Found in Text Mining only
Ceruloplasmin deficiency	Ceruloplasmin deficiency	BEFREE	19095659, 19572946, 23962630, 29882374		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	25704483		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	37904461	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	19296535		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	CTD_human_DG	19296535		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	19296535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Neoplasms	Colorectal Neoplasms	CTD_human_DG	19296535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEMENT COMPONENT 8 DEFICIENCY, TYPE II	Complement Component Deficiency	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Copper Overload Cirrhosis	Copper overload cirrhosis	Pubtator	23963605, 27992490, 36359796	Associate	★☆☆☆☆ Found in Text Mining only
Corticobasal Degeneration	Corticobasal degeneration	Pubtator	36553628	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	24897373	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30520396		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28433620, 31638244		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37773841	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	35220961	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	CTD_human_DG	17303181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystonia	Dystonia	Pubtator	35220961	Associate	★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	21956287		★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	37027423	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Varices	Esophageal varix	HPO_DG			★☆☆☆☆ Found in Text Mining only
Essential Tremor	Essential tremor	Pubtator	11254776	Associate	★☆☆☆☆ Found in Text Mining only
Factor VII Deficiency	Factor VII Deficiency	BEFREE	31482689		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	CTD_human_DG	17303181		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	BEFREE	28428350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatty Liver	Fatty Liver	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	25134866		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	26194361, 29970670	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	25134866, 29250175		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	25134866, 29250175		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	40355831	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	31790150		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	27744583	Associate	★☆☆☆☆ Found in Text Mining only
Heart Neoplasm	Cardiac Neoplasms	LHGDN	17171802		★☆☆☆☆ Found in Text Mining only
Hematologic Diseases	Hematologic disease	Pubtator	29970670	Associate	★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	27592149		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	11472373	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Fibrosis Congenital	Hepatic fibrosis	Pubtator	31096464	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Form of Wilson Disease	Hepatolenticular degeneration	CTD_human_DG	10686180, 10790207, 10830865, 10982773, 11157799, 11405812, 11472373, 11803042, 11854914, 11985593, 12228238, 12544487, 12820478, 14574444, 14579150, 14998371, 15135151, 15147237, 15911138, 16133174, 16607473, 16824500, 16932613, 17182432, 17276780, 17634212, 17919502, 18371106, 18779302, 19888908, 20647314, 21146535, 21242307, 21364284, 21406592, 22130675, 22455587, 22565294, 22677543, 22802922, 22945834, 22981378, 23235335, 23333878, 23789284, 23843956, 23963605, 24094725, 24892424, 25003971, 25134866		★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	32532207	Associate	★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	UNIPROT_DG	10051024, 10194254, 10447265, 10453196, 10502776, 10502777, 10544227, 10721669, 10790207, 10942420, 11043508, 11093740, 11180609, 11216666, 11231950, 11243728, 11405812, 11690702, 11954751, 12325021, 12376745, 12544487, 14639035, 14966923, 14986826, 15024742, 15557537, 15811015, 15845031, 15952988, 15967699, 16088907, 16207219, 16283883, 16649058, 17718866, 17823867, 17919502, 17949296, 18203200, 18373411, 19033537, 20333758, 21398519, 21454443, 21645214, 21682854, 22075048, 22240481, 22484412, 22763723, 23159873, 23235335, 23275100, 23333878, 23518715, 23962630, 24476933, 24555712, 24706876, 25704634, 25982861, 26004889, 28856630, 7626145, 8298641, 8533760, 8782057, 8931691, 8938442, 8980283, 9222767, 9311736, 9452121, 9482578, 9554743, 9671269, 9772425, 9829905, 9837819, 9887381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	CLINVAR_DG	10051024, 10070620, 10406672, 10441329, 10447265, 10453196, 10502776, 10502777, 10544227, 10721669, 10790207, 10942420, 10980554, 10981891, 10994503, 11043508, 11060541, 11093740, 11216666, 11243728, 11405812, 11472373, 11479773, 11690702, 11721763, 11775208, 11857545, 11954751, 12202071, 12325021, 12376745, 12515040, 12544487, 12557139, 12885331, 14616767, 14761325, 14962673, 14966923, 14986826, 15024742, 15147237, 15205462, 15205742, 15337266, 15523622, 15524314, 15557537, 15571607, 15723329, 15811015, 15845031, 15952988, 15967699, 16088907, 16133174, 16175588, 16207219, 16233999, 16234011, 16283883, 16423615, 16495228, 16510432, 16567646, 16603785, 16649058, 16684691, 16696937, 16791614, 16868807, 16998287, 16998622, 17154398, 17160357, 17264425, 17272994, 17300695, 17317524, 17433323, 17587212, 17634212, 17680703, 17717039, 17718866, 17823867, 17876883, 17897870, 17919502, 17949296, 18034201, 18156766, 18203200, 18286826, 18311837, 18371106, 18373411, 18403153, 18483695, 18652531, 18728530, 18855987, 19033537, 19118915, 19172127, 19371217, 19419418, 19596473, 19783880, 19937698, 20042865, 20082719, 20333758, 20421574, 20453399, 20485189, 20491539, 20517649, 20931554, 20958917, 20967755, 21034864, 21219664, 21334398, 21398519, 21454443, 21610751, 21645214, 21682854, 21707886, 21796144, 21832955, 21956287, 21982967, 22019423, 22046264, 22087377, 22093921, 22170460, 22221592, 22240481, 22286624, 22308153, 22484412, 22677543, 22687675, 22692182, 22720273, 22720308, 22735241, 22763723, 22774841, 22940187, 23159873, 23219664, 23235335, 23275100, 23333878, 23389864, 23430908, 23486543, 23518715, 23551039, 23556051, 23567103, 23607698, 23789284, 23843956, 23885147, 23962630, 23982005, 24003324, 24010089, 2409472, 24094725, 24118554, 24146181, 24253677, 24475083, 24476933, 24517292, 24555712, 24661374, 24668339, 24706876, 24718822, 24720933, 24878384, 24897373, 24909901, 24932333, 25046119, 25086856, 25089800, 25130000, 25376582, 25390358, 25497208, 25516681, 25525159, 25704483, 25704634, 25982861, 25988284, 26032686, 26206375, 26269689, 26466587, 26483271, 26650869, 26752957, 26782526, 2679931, 26799313, 26819605, 26829729, 27022412, 27122662, 27398169, 27437191, 27930511, 27935710, 27982432, 27992490, 28212618, 29321352, 29649982, 30087448, 30097039, 30232804, 30254379, 7626145, 7726170, 8203200, 8298639, 8298640, 8298641, 8526905, 8533760, 8782057, 8931691, 8938442, 8980283, 9199563, 9311736, 9352458, 9452121, 9482578, 9554743, 9654149, 9671269, 9724794, 9801873, 9829905, 9837819, 9887381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	CLINGEN_DG	10441329, 10940336, 16635921, 23715323, 23843956, 8298639, 9430732, 9724794, 9887381		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	10502777, 10544227, 10585777, 10721669, 10777157, 10790207, 10942420, 10973814, 11043508, 11054498, 11060541, 11216666, 11243728, 11405812, 11472373, 11708998, 11857545, 11936861, 11961729, 12029094, 12128158, 12372948, 12385784, 12539960, 12539962, 12544487, 12551905, 12557139, 12763797, 12820478, 12885331, 14514926, 14579150, 14602476, 14616767, 14723487, 14748773, 14966923, 14986826, 15024742, 15060811, 15202786, 15511628, 15519648, 15523622, 15554419, 15952988, 15967699, 15996499, 16133174, 16211609, 16222684, 16283883, 16310588, 16549536, 16644258, 16684691, 16696937, 16700326, 16709660, 16791614, 16998622, 17160357, 17182432, 17205981, 17272992, 17272994, 17317524, 17325640, 17410460, 17433323, 17584039, 17587212, 17634212, 17660582, 17680703, 17717039, 17823867, 17876883, 17897870, 17919502, 17949296, 18203200, 18371106, 18483695, 18556333, 18652531, 18673401, 18688737, 18698682, 18809983, 18855987, 19007772, 19306278, 19364131, 19371217, 19540904, 19572946, 19596473, 19645496, 19725132, 19937698, 20082719, 20138984, 20333758, 20362556, 20465995, 20491539, 20517649, 20550661, 20931554, 20958917, 21034864, 21146535, 21219664, 21242307, 21327972, 21334398, 21364284, 21398519, 21454443, 21496616, 21538285, 21593220, 21645214, 21796144, 21832955, 21901653, 21920437, 21925265, 22019423, 22075048, 22130675, 22139496, 22158007, 22221592, 22240481, 22258517, 22356903, 22484412, 22565015, 22677543, 22692182, 22720308, 22802922, 22806248, 22898812, 23159873, 23219664, 23235335, 23275100, 23333878, 23518715, 23551039, 23567103, 23774950, 2382969, 23843956, 23962630, 23963605, 23982005, 24094725, 24119853, 24517502, 24555712, 24697742, 24702697, 24706876, 24820353, 24878384, 24892424, 25086856, 25089800, 25134866, 25376582, 25390358, 25496901, 25497208, 25704634, 25825851, 25900953, 25982861, 26031236, 26112727, 26207595, 26215059, 26241054, 26253413, 26409215, 26483271, 26580967, 26660341, 26679751, 26747866, 26782526, 26799313, 27022412, 27122662, 27499330, 27592149, 27638368, 27706781, 27714068, 27830552, 27935710, 27982432, 27992490, 28130615, 28428350, 28433098, 28433102, 28433109, 28433110, 28515472, 28842499, 28856630, 28900031, 28958857, 29059476, 29063292, 29181760, 29325617, 29330485, 29358698, 29418065, 29460662, 29473088, 29637721, 29649982, 29668570, 29674751, 29732486, 29761093, 29882374, 29914392, 29954118, 29979436, 30010856, 30087448, 30097039, 30120852, 30173886, 30230192, 30232804, 30254379, 30269758, 30277246, 30384382, 30426382, 30452922, 30568028, 30643139, 30655162, 30693797, 30702195, 30703747, 30706949, 30709419, 30723317, 30733544, 30884209, 30965071, 30967268, 30980273, 31001112, 31011744, 31028847, 31059521, 31096464, 31172689, 31283225, 31286540, 31408533, 31482689, 31547461, 31596515, 31598802, 31708252, 31727212, 31746411, 31751128, 31783295, 31815268, 7490081, 7490097, 7626145, 7951327, 8091505, 8298641, 8782057, 8894697, 8921375, 9147644, 9199563, 9215673, 9359859, 9482578, 9554743, 9772425, 9785470, 9801873, 9837819, 9949209		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	10544227, 11415452, 11472373, 12029094, 12544487, 12551905, 12930977, 14514926, 14966923, 15205462, 15681833, 15963506, 16684691, 16709660, 17634212, 17823867, 17876883, 17919502, 18558714, 18698682, 18779302, 18809983, 18855987, 18974300, 19181666, 19338486, 19364131, 19478447, 20082719, 20346064, 20453399, 20550661, 21219664, 21398519, 21406592, 21454443, 21610751, 21682854, 22046264, 22240481, 22687675, 22720273, 22720308, 22806248, 22898812, 23518715, 23774950, 23843956, 23885147, 23963605, 23982005, 24368744, 24555712, 24892424, 24897373, 25390358, 25900953, 25910288, 26097579, 26215059, 26269689, 26660341, 26782526, 26823605, 27022412, 27122662, 27638368, 27706781, 27744583, 27935710, 27992490, 28842499, 29085216, 29330485, 29362485, 29381936, 29540233, 29649982, 29674751, 29898862, 29914392, 29930488, 30087448, 30097039, 30558096, 30576569, 30709419, 30723317, 30884209, 31010795, 31070637, 31096464, 31169307, 31482689, 31547461, 31746411, 31783295, 32028086, 32113134, 32155648, 32252475, 32270360, 32351182, 32493955, 32532207, 32532881, 32534167, 32664103, 32770663, 32778786, 32997714, 33096383, 33135151, 33197697, 33265091, 33288711, 33573009, 33640437, 33668890, 33828154, 33879678, 34117631, 34240825, 34320232, 34324271, 34439909, 34470610, 34831341, 35029214, 35220961, 35271763, 35388883, 35470480, 35763513, 35895997, 35913762, 35940888, 36071243, 36096368, 36253962, 36343861, 36359796, 36360177, 36553628, 37184530, 37386576, 37415038, 37612087, 38136617, 39267050, 39326255, 39662915, 39930861, 40257477, 40447697, 40616145, 40629618, 40661833, 40725019, 8782057, 9199563, 9307043, 9311736, 9359859, 9407118, 9654149, 9813047, 9837819	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	CTD_human_DG	10686180, 10790207, 10830865, 10982773, 11157799, 11405812, 11472373, 11803042, 11854914, 11985593, 12228238, 12544487, 12820478, 14574444, 14579150, 14998371, 15135151, 15147237, 15911138, 16133174, 16607473, 16824500, 16932613, 17182432, 17276780, 17634212, 17919502, 18371106, 18779302, 19888908, 20647314, 21146535, 21242307, 21364284, 21406592, 22130675, 22455587, 22565294, 22677543, 22802922, 22945834, 22981378, 23235335, 23333878, 23789284, 23843956, 23963605, 24094725, 24892424, 25003971, 25134866		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	LHGDN	12325021, 12539960, 12557139, 12763797, 12885331, 14616767, 15205462, 15511628, 16088907, 16230279, 16283883, 16416207, 17160357, 17229731, 17680703, 17876883, 17919502, 18373411, 18483695, 18688737, 18692069, 18698682, 18809983		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	ORPHANET_DG	22240481, 23333878		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatolenticular Degeneration	Hepatolenticular Degeneration	GENOMICS_ENGLAND_DG	27604308, 28433102, 30120852		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	27592149		★☆☆☆☆ Found in Text Mining only
Homocystinuria	Homocystinuria	Pubtator	36553628	Associate	★☆☆☆☆ Found in Text Mining only
Hypersexuality state	Hypersexuality	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypocupremia	Hypocupremia	BEFREE	17717039, 21242307, 21454443, 22130675		★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	29958879		★☆☆☆☆ Found in Text Mining only
Inborn Errors of Metabolism	Inborn Errors Of Metabolism	BEFREE	23982005		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kayser-Fleischer ring	Kayser-Fleischer ring	BEFREE	19572946		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kayser-Fleischer ring	Kayser-Fleischer ring	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kayser-Fleischer ring	Kayser-Fleischer ring	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Kidney Neoplasm	Kidney Neoplasm	CTD_human_DG	11509115		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	37612087	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	39302398	Associate	★☆☆☆☆ Found in Text Mining only
Left ventricular systolic dysfunction	Ventricular Systolic Dysfunction	BEFREE	29713820		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	36114914	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	12557139, 16472602, 23843956, 24892424, 28805879		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12557139, 15154620		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	18855987	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	25134866		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	BEFREE	25704483		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Cirrhosis	Liver Cirrhosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Diseases	Liver disease	Pubtator	34470610, 36096368	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure	Liver failure	BEFREE	21364284, 24476933, 29882374		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	29898862, 33573009, 35029214	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver Failure Acute	Liver failure	Pubtator	31010795, 32532207	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	10777157, 20491539, 25134866, 30733544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure, Acute	Liver failure	CTD_human_DG	25134866		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver Failure, Acute	Liver failure	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	CTD_human_DG	11509115		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Liver neoplasms	Liver neoplasms	BEFREE	12557139, 16472602, 24892424, 28805879		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	LHGDN	18636185		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	24852429	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	16737839		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Major Depressive Disorder	Mental Depression	PSYGENET_DG	16737839		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	31790150		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	11802810		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	CTD_human_DG	11509115		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	CTD_human_DG	11509115		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	20931554, 31657924		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	24852429		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	12509969		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	12216079, 19470734, 25591549		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	12216079		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	25320179		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	24023303		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19114980, 21455266, 31790150		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	11802810		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	11802810		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	11802810		★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	BEFREE	10790207, 11157799, 12385784, 14579150, 24365357, 7833924, 9199563, 9359859		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28433620, 31638244		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	31637888	Associate	★☆☆☆☆ Found in Text Mining only
Mixed demyelinating and axonal polyneuropathy	Mixed demyelinating and axonal polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	12509969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Movement Disorders	Movement Disorders	BEFREE	19572946		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10728692, 19470734, 21455266, 23792645, 30310510, 31790150		★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22692182, 30341172		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	19007772		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	18636185, 29970670, 30310510		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28428350		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	29381936	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	12216079, 19470734		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	25591549	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	12216079		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18565219		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	25591549		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	25591549, 35053335	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Panhypopituitarism	Panhypopituitarism	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36553628	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	36114914	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	16737839		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	30055102		★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	31096464		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30520396		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10728692		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	25320179		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Renal tubular disorder	Renal Tubular Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	32233732	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	12820478		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31790150	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	CTD_human_DG	12509969		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	31638244, 31790150		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	CTD_human_DG	17303181		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	25678388, 28428350		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17171802	Associate	★☆☆☆☆ Found in Text Mining only
Tic disorder	Tic Disorder	BEFREE	29713820		★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	33265091, 35220961	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37259036	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	CTD_human_DG	11802810, 12216079		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	BEFREE	16737839		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unipolar Depression	Mental Depression	PSYGENET_DG	16737839		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35908410	Associate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease, Type 2N	Von Willebrand Disorder	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Wilson disease	Wilson Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)