Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	538
Gene name	ATPase copper transporting alpha
Gene symbol	ATP7A
Synonyms (NCBI Gene)	DSMAXHMNXMKMNKSMAX3
Chromosome	X
Chromosome location	Xq21.1
Summary	This gene encodes a transmembrane protein that functions in copper transport across membranes. This protein is localized to the trans Golgi network, where it is predicted to supply copper to copper-dependent enzymes in the secretory pathway. It relocalize

131

Show/Hide all (131)

SNP ID	Visualize variation	Clinical significance	Consequence
rs67273048	G>A	Pathogenic	Coding sequence variant, stop gained, intron variant
rs72554636	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs72554638	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, stop gained, intron variant, synonymous variant
rs72554639	G>C	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs72554640	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs72554644	G>A,T	Pathogenic	Coding sequence variant, stop gained, intron variant, missense variant
rs72554645	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs72554649	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs72554650	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs72554652	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant
rs138958687	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs139781067	A>G	Conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs143214563	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs143907597	A>G	Conflicting-interpretations-of-pathogenicity, benign	Intron variant, missense variant, coding sequence variant
rs146651049	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs146692150	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, synonymous variant, coding sequence variant
rs150526992	A>T	Conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs151340631	C>G,T	Pathogenic	Intron variant, missense variant, stop gained, coding sequence variant
rs151340632	A>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs151340633	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs181435872	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs267606672	C>T	Uncertain-significance, pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs267606673	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant, intron variant
rs367775730	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant, intron variant
rs368622356	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs370736173	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs372489000	C>A,T	Benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs372898963	G>C	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant
rs398123133	A>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs398123135	G>T	Pathogenic	Splice acceptor variant
rs782196306	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs782260332	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs782619990	A>G	Conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant
rs794729231	G>A,C	Pathogenic	Intron variant, splice acceptor variant
rs797045325	G>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045327	->GGGGC	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045329	T>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045330	C>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045331	G>A	Pathogenic	Intron variant, splice acceptor variant
rs797045332	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045333	TA>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045334	T>A	Uncertain-significance, pathogenic	Intron variant
rs797045336	C>G	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045337	G>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045338	G>C	Pathogenic	Intron variant, splice acceptor variant
rs797045339	T>G	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045340	G>C	Pathogenic	Intron variant, splice donor variant
rs797045341	G>A	Pathogenic	Intron variant
rs797045342	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045343	->TTCTGTATTCCTGTAATGGGGCTGATGATAT	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045344	G>A,C	Likely-pathogenic, pathogenic	Intron variant, missense variant, coding sequence variant
rs797045346	T>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045347	G>C	Pathogenic	Intron variant
rs797045348	G>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs797045349	A>G	Pathogenic	Intron variant, splice acceptor variant
rs797045350	G>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs797045351	G>A	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045352	->ATTG	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045353	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045354	T>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs797045355	CATATAGCAAA>AGCATC	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045356	AGG>T	Pathogenic	Intron variant, splice donor variant, coding sequence variant
rs797045357	T>A	Pathogenic	Intron variant, splice donor variant
rs797045358	->GTGAAGA	Pathogenic	Intron variant, splice acceptor variant, coding sequence variant
rs797045359	G>A	Pathogenic	Intron variant, splice acceptor variant
rs797045360	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs797045361	->C	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045362	T>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs797045363	G>C	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs797045364	AAGT>-	Pathogenic	Intron variant, splice donor variant
rs797045365	C>T	Uncertain-significance, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs797045366	CATACTAATAAAAGG>-	Pathogenic	Intron variant, inframe deletion, coding sequence variant
rs797045367	G>A	Pathogenic	Splice acceptor variant
rs797045368	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045369	TTTGA>AGTACAGG	Pathogenic	Inframe indel, non coding transcript variant, coding sequence variant
rs797045370	T>C,G	Pathogenic	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs797045372	T>G	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797045373	C>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797045374	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs797045375	G>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045376	G>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045377	G>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797045378	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797045379	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797045380	A>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045382	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045383	T>ATGACTGG	Pathogenic	Stop gained, inframe indel, non coding transcript variant, coding sequence variant
rs797045384	AA>TTAC	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045385	A>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045386	G>T	Pathogenic	Splice donor variant
rs797045387	A>G,T	Likely-pathogenic	Intron variant
rs797045388	C>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045389	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045390	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045391	G>T	Pathogenic	Splice donor variant
rs797045392	TCT>-	Pathogenic	Inframe deletion, non coding transcript variant, coding sequence variant
rs797045393	G>A	Pathogenic	Splice donor variant
rs797045394	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045395	->A	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797045396	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs797045397	AG>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs797045398	G>A	Pathogenic	Intron variant
rs797045399	C>T	Pathogenic	Intron variant, stop gained, coding sequence variant
rs797045400	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs879253938	TAAG>-	Pathogenic	Intron variant, splice donor variant
rs886044769	->GTTT	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs886044881	G>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1064796648	C>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1287511385	A>-	Conflicting-interpretations-of-pathogenicity	Intron variant, splice acceptor variant
rs1557236729	C>A	Likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs1557236754	G>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs1557236762	G>A	Likely-pathogenic	Intron variant, splice donor variant
rs1557237050	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557237451	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1557238569	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557238588	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557238590	CTCCCCA>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557238665	G>A	Likely-pathogenic	Splice acceptor variant
rs1569549376	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569549587	CAATCAGA>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1569549695	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1569549699	G>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1569549753	G>A	Pathogenic	Splice donor variant, intron variant
rs1569549974	G>-	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1569550143	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs1569550376	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603381331	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1603387278	GT>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs1603389393	->A	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603391120	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603391127	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

401

Show/Hide all (401)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018615	hsa-miR-335-5p	Microarray	18185580
MIRT019495	hsa-miR-148b-3p	Microarray	17612493
MIRT021461	hsa-miR-9-5p	Microarray	17612493
MIRT023385	hsa-miR-122-5p	Microarray	17612493
MIRT044676	hsa-miR-320a	CLASH	23622248
MIRT054368	hsa-miR-495-3p	A549 and its multi???drug resistant variant A549/CDDP"	24038379
MIRT054368	hsa-miR-495-3p	A549 and its multi???drug resistant variant A549/CDDP"	24038379
MIRT054368	hsa-miR-495-3p	A549 and its multi???drug resistant variant A549/CDDP"	24038379
MIRT054368	hsa-miR-495-3p	A549 and its multi???drug resistant variant A549/CDDP"	24038379
MIRT054368	hsa-miR-495-3p	A549 and its multi???drug resistant variant A549/CDDP"	24038379
MIRT054368	hsa-miR-495-3p	A549 and its multi???drug resistant variant A549/CDDP"	24038379
MIRT054368	hsa-miR-495-3p	A549 and its multi???drug resistant variant A549/CDDP"	24038379
MIRT176136	hsa-miR-4517	HITS-CLIP	21572407
MIRT551183	hsa-miR-5583-3p	HITS-CLIP	21572407
MIRT551182	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT551181	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT551179	hsa-miR-4501	HITS-CLIP	21572407
MIRT551178	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT551177	hsa-miR-567	HITS-CLIP	21572407
MIRT551176	hsa-miR-1257	HITS-CLIP	21572407
MIRT551175	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT551174	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT551173	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT551172	hsa-miR-3924	HITS-CLIP	21572407
MIRT551171	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT551170	hsa-miR-297	HITS-CLIP	21572407
MIRT551169	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT054368	hsa-miR-495-3p	HITS-CLIP	23824327
MIRT176144	hsa-miR-5688	HITS-CLIP	23824327
MIRT646864	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT646863	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT176138	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT646862	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT176136	hsa-miR-4517	PAR-CLIP	21572407
MIRT551183	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT551182	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT551181	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT551180	hsa-miR-5579-5p	PAR-CLIP	21572407
MIRT551179	hsa-miR-4501	PAR-CLIP	21572407
MIRT551178	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT551177	hsa-miR-567	PAR-CLIP	21572407
MIRT551176	hsa-miR-1257	PAR-CLIP	21572407
MIRT551175	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT551174	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT551173	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT551172	hsa-miR-3924	PAR-CLIP	21572407
MIRT551171	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT551170	hsa-miR-297	PAR-CLIP	21572407
MIRT551169	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT176120	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT176126	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT176119	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT733965	hsa-miR-139-5p	Luciferase reporter assayqRT-PCRWestern blotting	31839712
MIRT176136	hsa-miR-4517	HITS-CLIP	21572407
MIRT551183	hsa-miR-5583-3p	HITS-CLIP	21572407
MIRT551182	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT551181	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT551179	hsa-miR-4501	HITS-CLIP	21572407
MIRT551178	hsa-miR-511-3p	HITS-CLIP	21572407
MIRT551177	hsa-miR-567	HITS-CLIP	21572407
MIRT551176	hsa-miR-1257	HITS-CLIP	21572407
MIRT551175	hsa-miR-223-5p	HITS-CLIP	21572407
MIRT551174	hsa-miR-6867-5p	HITS-CLIP	21572407
MIRT551173	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT551172	hsa-miR-3924	HITS-CLIP	21572407
MIRT551171	hsa-miR-493-5p	HITS-CLIP	21572407
MIRT551170	hsa-miR-297	HITS-CLIP	21572407
MIRT551169	hsa-miR-1277-5p	HITS-CLIP	21572407
MIRT054368	hsa-miR-495-3p	HITS-CLIP	23824327
MIRT176144	hsa-miR-5688	HITS-CLIP	23824327
MIRT646864	hsa-miR-7-1-3p	HITS-CLIP	23824327
MIRT646863	hsa-miR-7-2-3p	HITS-CLIP	23824327
MIRT176138	hsa-miR-3529-3p	HITS-CLIP	23824327
MIRT646862	hsa-miR-3065-5p	HITS-CLIP	23824327
MIRT176136	hsa-miR-4517	PAR-CLIP	21572407
MIRT551183	hsa-miR-5583-3p	PAR-CLIP	21572407
MIRT551182	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT551181	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT551180	hsa-miR-5579-5p	PAR-CLIP	21572407
MIRT551179	hsa-miR-4501	PAR-CLIP	21572407
MIRT551178	hsa-miR-511-3p	PAR-CLIP	21572407
MIRT551177	hsa-miR-567	PAR-CLIP	21572407
MIRT551176	hsa-miR-1257	PAR-CLIP	21572407
MIRT551175	hsa-miR-223-5p	PAR-CLIP	21572407
MIRT551174	hsa-miR-6867-5p	PAR-CLIP	21572407
MIRT551173	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT551172	hsa-miR-3924	PAR-CLIP	21572407
MIRT551171	hsa-miR-493-5p	PAR-CLIP	21572407
MIRT551170	hsa-miR-297	PAR-CLIP	21572407
MIRT551169	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT809520	hsa-miR-1207-5p	CLIP-seq
MIRT809521	hsa-miR-1228	CLIP-seq
MIRT809522	hsa-miR-1252	CLIP-seq
MIRT809523	hsa-miR-1293	CLIP-seq
MIRT809524	hsa-miR-15a	CLIP-seq
MIRT809525	hsa-miR-15b	CLIP-seq
MIRT809526	hsa-miR-16	CLIP-seq
MIRT809527	hsa-miR-1827	CLIP-seq
MIRT809528	hsa-miR-195	CLIP-seq
MIRT809529	hsa-miR-203	CLIP-seq
MIRT809530	hsa-miR-214	CLIP-seq
MIRT809531	hsa-miR-2467-5p	CLIP-seq
MIRT809532	hsa-miR-3120-5p	CLIP-seq
MIRT809533	hsa-miR-3145-3p	CLIP-seq
MIRT809534	hsa-miR-3147	CLIP-seq
MIRT809535	hsa-miR-3152-5p	CLIP-seq
MIRT809536	hsa-miR-3173-3p	CLIP-seq
MIRT809537	hsa-miR-3185	CLIP-seq
MIRT809538	hsa-miR-342-3p	CLIP-seq
MIRT809539	hsa-miR-34b	CLIP-seq
MIRT809540	hsa-miR-3545-3p	CLIP-seq
MIRT809541	hsa-miR-3612	CLIP-seq
MIRT809542	hsa-miR-3619-5p	CLIP-seq
MIRT809543	hsa-miR-3622b-5p	CLIP-seq
MIRT809544	hsa-miR-3647-3p	CLIP-seq
MIRT809545	hsa-miR-3663-3p	CLIP-seq
MIRT809546	hsa-miR-3664-3p	CLIP-seq
MIRT809547	hsa-miR-3664-5p	CLIP-seq
MIRT809548	hsa-miR-3689a-3p	CLIP-seq
MIRT809549	hsa-miR-3689c	CLIP-seq
MIRT809550	hsa-miR-3929	CLIP-seq
MIRT809551	hsa-miR-3940-5p	CLIP-seq
MIRT809552	hsa-miR-3945	CLIP-seq
MIRT809553	hsa-miR-424	CLIP-seq
MIRT809554	hsa-miR-4253	CLIP-seq
MIRT809555	hsa-miR-4269	CLIP-seq
MIRT809556	hsa-miR-4270	CLIP-seq
MIRT809557	hsa-miR-4276	CLIP-seq
MIRT809558	hsa-miR-4284	CLIP-seq
MIRT809559	hsa-miR-4291	CLIP-seq
MIRT809560	hsa-miR-4419a	CLIP-seq
MIRT809561	hsa-miR-4419b	CLIP-seq
MIRT809562	hsa-miR-4425	CLIP-seq
MIRT809563	hsa-miR-4432	CLIP-seq
MIRT809564	hsa-miR-4433	CLIP-seq
MIRT809565	hsa-miR-4434	CLIP-seq
MIRT809566	hsa-miR-4441	CLIP-seq
MIRT809567	hsa-miR-4443	CLIP-seq
MIRT809568	hsa-miR-4455	CLIP-seq
MIRT809569	hsa-miR-4459	CLIP-seq
MIRT809570	hsa-miR-4478	CLIP-seq
MIRT809571	hsa-miR-4483	CLIP-seq
MIRT809572	hsa-miR-4496	CLIP-seq
MIRT809573	hsa-miR-4506	CLIP-seq
MIRT809574	hsa-miR-4507	CLIP-seq
MIRT809575	hsa-miR-4510	CLIP-seq
MIRT809576	hsa-miR-4516	CLIP-seq
MIRT809577	hsa-miR-4522	CLIP-seq
MIRT809578	hsa-miR-4524	CLIP-seq
MIRT809579	hsa-miR-4635	CLIP-seq
MIRT809580	hsa-miR-4649-3p	CLIP-seq
MIRT809581	hsa-miR-4695-5p	CLIP-seq
MIRT809582	hsa-miR-4722-5p	CLIP-seq
MIRT809583	hsa-miR-4728-5p	CLIP-seq
MIRT809584	hsa-miR-4736	CLIP-seq
MIRT809585	hsa-miR-4738-3p	CLIP-seq
MIRT809586	hsa-miR-4763-3p	CLIP-seq
MIRT809587	hsa-miR-4768-3p	CLIP-seq
MIRT809588	hsa-miR-4771	CLIP-seq
MIRT809589	hsa-miR-4774-3p	CLIP-seq
MIRT809590	hsa-miR-4781-3p	CLIP-seq
MIRT809591	hsa-miR-4802-5p	CLIP-seq
MIRT809592	hsa-miR-485-5p	CLIP-seq
MIRT809593	hsa-miR-495	CLIP-seq
MIRT809594	hsa-miR-497	CLIP-seq
MIRT809595	hsa-miR-500a	CLIP-seq
MIRT809596	hsa-miR-503	CLIP-seq
MIRT809597	hsa-miR-510	CLIP-seq
MIRT809598	hsa-miR-512-5p	CLIP-seq
MIRT809599	hsa-miR-548c-3p	CLIP-seq
MIRT809600	hsa-miR-629	CLIP-seq
MIRT809601	hsa-miR-646	CLIP-seq
MIRT809602	hsa-miR-650	CLIP-seq
MIRT809603	hsa-miR-761	CLIP-seq
MIRT809604	hsa-miR-922	CLIP-seq
MIRT809605	hsa-miR-940	CLIP-seq
MIRT809521	hsa-miR-1228	CLIP-seq
MIRT1939164	hsa-miR-1258	CLIP-seq
MIRT1939165	hsa-miR-1261	CLIP-seq
MIRT809524	hsa-miR-15a	CLIP-seq
MIRT809525	hsa-miR-15b	CLIP-seq
MIRT809526	hsa-miR-16	CLIP-seq
MIRT1939166	hsa-miR-188-3p	CLIP-seq
MIRT809528	hsa-miR-195	CLIP-seq
MIRT809529	hsa-miR-203	CLIP-seq
MIRT1939167	hsa-miR-208a	CLIP-seq
MIRT1939168	hsa-miR-208b	CLIP-seq
MIRT1939169	hsa-miR-300	CLIP-seq
MIRT809532	hsa-miR-3120-5p	CLIP-seq
MIRT1939170	hsa-miR-3122	CLIP-seq
MIRT1939171	hsa-miR-3143	CLIP-seq
MIRT809533	hsa-miR-3145-3p	CLIP-seq
MIRT1939172	hsa-miR-3145-5p	CLIP-seq
MIRT1939173	hsa-miR-3165	CLIP-seq
MIRT1939174	hsa-miR-3201	CLIP-seq
MIRT1939175	hsa-miR-338-5p	CLIP-seq
MIRT1939176	hsa-miR-3605-5p	CLIP-seq
MIRT1939177	hsa-miR-3622a-3p	CLIP-seq
MIRT1939178	hsa-miR-3622b-3p	CLIP-seq
MIRT1939179	hsa-miR-3656	CLIP-seq
MIRT1939180	hsa-miR-3658	CLIP-seq
MIRT809547	hsa-miR-3664-5p	CLIP-seq
MIRT1939181	hsa-miR-3667-5p	CLIP-seq
MIRT1939182	hsa-miR-3671	CLIP-seq
MIRT809548	hsa-miR-3689a-3p	CLIP-seq
MIRT809549	hsa-miR-3689c	CLIP-seq
MIRT1939183	hsa-miR-381	CLIP-seq
MIRT1939184	hsa-miR-3910	CLIP-seq
MIRT1939185	hsa-miR-3913-5p	CLIP-seq
MIRT809553	hsa-miR-424	CLIP-seq
MIRT1939186	hsa-miR-4266	CLIP-seq
MIRT1939187	hsa-miR-4277	CLIP-seq
MIRT1939188	hsa-miR-4282	CLIP-seq
MIRT1939189	hsa-miR-4307	CLIP-seq
MIRT1939190	hsa-miR-4511	CLIP-seq
MIRT809577	hsa-miR-4522	CLIP-seq
MIRT809578	hsa-miR-4524	CLIP-seq
MIRT1939191	hsa-miR-4693-3p	CLIP-seq
MIRT809583	hsa-miR-4728-5p	CLIP-seq
MIRT809585	hsa-miR-4738-3p	CLIP-seq
MIRT1939192	hsa-miR-4753-3p	CLIP-seq
MIRT1939193	hsa-miR-4791	CLIP-seq
MIRT809594	hsa-miR-497	CLIP-seq
MIRT1939194	hsa-miR-499-5p	CLIP-seq
MIRT1939195	hsa-miR-544b	CLIP-seq
MIRT1939196	hsa-miR-548an	CLIP-seq
MIRT1939197	hsa-miR-9	CLIP-seq
MIRT809520	hsa-miR-1207-5p	CLIP-seq
MIRT2178244	hsa-miR-1227	CLIP-seq
MIRT809521	hsa-miR-1228	CLIP-seq
MIRT1939164	hsa-miR-1258	CLIP-seq
MIRT2178245	hsa-miR-1587	CLIP-seq
MIRT809527	hsa-miR-1827	CLIP-seq
MIRT2178246	hsa-miR-204	CLIP-seq
MIRT2178247	hsa-miR-211	CLIP-seq
MIRT1939169	hsa-miR-300	CLIP-seq
MIRT1939170	hsa-miR-3122	CLIP-seq
MIRT1939172	hsa-miR-3145-5p	CLIP-seq
MIRT1939173	hsa-miR-3165	CLIP-seq
MIRT1939174	hsa-miR-3201	CLIP-seq
MIRT809538	hsa-miR-342-3p	CLIP-seq
MIRT1939176	hsa-miR-3605-5p	CLIP-seq
MIRT1939177	hsa-miR-3622a-3p	CLIP-seq
MIRT1939178	hsa-miR-3622b-3p	CLIP-seq
MIRT809544	hsa-miR-3647-3p	CLIP-seq
MIRT1939179	hsa-miR-3656	CLIP-seq
MIRT809546	hsa-miR-3664-3p	CLIP-seq
MIRT809548	hsa-miR-3689a-3p	CLIP-seq
MIRT809549	hsa-miR-3689c	CLIP-seq
MIRT2178248	hsa-miR-378g	CLIP-seq
MIRT1939183	hsa-miR-381	CLIP-seq
MIRT1939184	hsa-miR-3910	CLIP-seq
MIRT1939185	hsa-miR-3913-5p	CLIP-seq
MIRT809550	hsa-miR-3929	CLIP-seq
MIRT2178249	hsa-miR-4252	CLIP-seq
MIRT2178250	hsa-miR-4263	CLIP-seq
MIRT1939186	hsa-miR-4266	CLIP-seq
MIRT809555	hsa-miR-4269	CLIP-seq
MIRT809556	hsa-miR-4270	CLIP-seq
MIRT809559	hsa-miR-4291	CLIP-seq
MIRT1939189	hsa-miR-4307	CLIP-seq
MIRT809561	hsa-miR-4419b	CLIP-seq
MIRT2178251	hsa-miR-4426	CLIP-seq
MIRT809564	hsa-miR-4433	CLIP-seq
MIRT809566	hsa-miR-4441	CLIP-seq
MIRT2178252	hsa-miR-4446-5p	CLIP-seq
MIRT809568	hsa-miR-4455	CLIP-seq
MIRT2178253	hsa-miR-4457	CLIP-seq
MIRT809569	hsa-miR-4459	CLIP-seq
MIRT809570	hsa-miR-4478	CLIP-seq
MIRT2178254	hsa-miR-4492	CLIP-seq
MIRT2178255	hsa-miR-4498	CLIP-seq
MIRT2178256	hsa-miR-4643	CLIP-seq
MIRT2178257	hsa-miR-4647	CLIP-seq
MIRT809580	hsa-miR-4649-3p	CLIP-seq
MIRT2178258	hsa-miR-4656	CLIP-seq
MIRT2178259	hsa-miR-466	CLIP-seq
MIRT2178260	hsa-miR-4662b	CLIP-seq
MIRT2178261	hsa-miR-4675	CLIP-seq
MIRT809581	hsa-miR-4695-5p	CLIP-seq
MIRT809583	hsa-miR-4728-5p	CLIP-seq
MIRT2178262	hsa-miR-4735-5p	CLIP-seq
MIRT809584	hsa-miR-4736	CLIP-seq
MIRT2178263	hsa-miR-4741	CLIP-seq
MIRT2178264	hsa-miR-4755-5p	CLIP-seq
MIRT809586	hsa-miR-4763-3p	CLIP-seq
MIRT809587	hsa-miR-4768-3p	CLIP-seq
MIRT2178265	hsa-miR-4789-3p	CLIP-seq
MIRT1939193	hsa-miR-4791	CLIP-seq
MIRT2178266	hsa-miR-4793-3p	CLIP-seq
MIRT809592	hsa-miR-485-5p	CLIP-seq
MIRT809593	hsa-miR-495	CLIP-seq
MIRT809595	hsa-miR-500a	CLIP-seq
MIRT2178267	hsa-miR-508-5p	CLIP-seq
MIRT809597	hsa-miR-510	CLIP-seq
MIRT809598	hsa-miR-512-5p	CLIP-seq
MIRT2178268	hsa-miR-513b	CLIP-seq
MIRT1939195	hsa-miR-544b	CLIP-seq
MIRT2178269	hsa-miR-576-5p	CLIP-seq
MIRT2178270	hsa-miR-623	CLIP-seq
MIRT2178271	hsa-miR-661	CLIP-seq
MIRT2178272	hsa-miR-762	CLIP-seq
MIRT2178273	hsa-miR-766	CLIP-seq
MIRT809605	hsa-miR-940	CLIP-seq
MIRT2384635	hsa-miR-2467-3p	CLIP-seq
MIRT2384636	hsa-miR-4257	CLIP-seq
MIRT2435595	hsa-miR-1	CLIP-seq
MIRT2435596	hsa-miR-206	CLIP-seq
MIRT2435597	hsa-miR-511	CLIP-seq
MIRT2435598	hsa-miR-613	CLIP-seq
MIRT2435599	hsa-miR-665	CLIP-seq
MIRT809532	hsa-miR-3120-5p	CLIP-seq
MIRT809547	hsa-miR-3664-5p	CLIP-seq
MIRT809563	hsa-miR-4432	CLIP-seq
MIRT809577	hsa-miR-4522	CLIP-seq
MIRT809521	hsa-miR-1228	CLIP-seq
MIRT2482126	hsa-miR-1243	CLIP-seq
MIRT2482127	hsa-miR-1251	CLIP-seq
MIRT1939164	hsa-miR-1258	CLIP-seq
MIRT2178245	hsa-miR-1587	CLIP-seq
MIRT1939167	hsa-miR-208a	CLIP-seq
MIRT1939168	hsa-miR-208b	CLIP-seq
MIRT809532	hsa-miR-3120-5p	CLIP-seq
MIRT1939170	hsa-miR-3122	CLIP-seq
MIRT1939173	hsa-miR-3165	CLIP-seq
MIRT1939174	hsa-miR-3201	CLIP-seq
MIRT2482128	hsa-miR-329	CLIP-seq
MIRT1939175	hsa-miR-338-5p	CLIP-seq
MIRT1939177	hsa-miR-3622a-3p	CLIP-seq
MIRT1939178	hsa-miR-3622b-3p	CLIP-seq
MIRT809543	hsa-miR-3622b-5p	CLIP-seq
MIRT2482129	hsa-miR-362-3p	CLIP-seq
MIRT2482130	hsa-miR-362-5p	CLIP-seq
MIRT1939179	hsa-miR-3656	CLIP-seq
MIRT1939180	hsa-miR-3658	CLIP-seq
MIRT809547	hsa-miR-3664-5p	CLIP-seq
MIRT1939181	hsa-miR-3667-5p	CLIP-seq
MIRT2482131	hsa-miR-3672	CLIP-seq
MIRT809548	hsa-miR-3689a-3p	CLIP-seq
MIRT809549	hsa-miR-3689c	CLIP-seq
MIRT2178248	hsa-miR-378g	CLIP-seq
MIRT1939185	hsa-miR-3913-5p	CLIP-seq
MIRT809554	hsa-miR-4253	CLIP-seq
MIRT1939186	hsa-miR-4266	CLIP-seq
MIRT809563	hsa-miR-4432	CLIP-seq
MIRT2178254	hsa-miR-4492	CLIP-seq
MIRT2482132	hsa-miR-4494	CLIP-seq
MIRT2178255	hsa-miR-4498	CLIP-seq
MIRT809577	hsa-miR-4522	CLIP-seq
MIRT2178258	hsa-miR-4656	CLIP-seq
MIRT2482133	hsa-miR-4662a-5p	CLIP-seq
MIRT2482134	hsa-miR-4663	CLIP-seq
MIRT2178261	hsa-miR-4675	CLIP-seq
MIRT2482135	hsa-miR-4684-5p	CLIP-seq
MIRT809583	hsa-miR-4728-5p	CLIP-seq
MIRT2178263	hsa-miR-4741	CLIP-seq
MIRT2482136	hsa-miR-4761-3p	CLIP-seq
MIRT1939193	hsa-miR-4791	CLIP-seq
MIRT809593	hsa-miR-495	CLIP-seq
MIRT1939194	hsa-miR-499-5p	CLIP-seq
MIRT2482137	hsa-miR-499a-5p	CLIP-seq
MIRT2482138	hsa-miR-500b	CLIP-seq
MIRT2482139	hsa-miR-501-5p	CLIP-seq
MIRT2178267	hsa-miR-508-5p	CLIP-seq
MIRT2482140	hsa-miR-526b	CLIP-seq
MIRT1939195	hsa-miR-544b	CLIP-seq
MIRT2482141	hsa-miR-548a-5p	CLIP-seq
MIRT2482142	hsa-miR-548ab	CLIP-seq
MIRT2482143	hsa-miR-548ak	CLIP-seq
MIRT2482144	hsa-miR-548b-5p	CLIP-seq
MIRT2482145	hsa-miR-548c-5p	CLIP-seq
MIRT2482146	hsa-miR-548d-5p	CLIP-seq
MIRT2482147	hsa-miR-548h	CLIP-seq
MIRT2482148	hsa-miR-548i	CLIP-seq
MIRT2482149	hsa-miR-548j	CLIP-seq
MIRT2482150	hsa-miR-548k	CLIP-seq
MIRT2482151	hsa-miR-548l	CLIP-seq
MIRT2482152	hsa-miR-548w	CLIP-seq
MIRT2482153	hsa-miR-548y	CLIP-seq
MIRT2482154	hsa-miR-559	CLIP-seq
MIRT2482155	hsa-miR-628-5p	CLIP-seq
MIRT2178271	hsa-miR-661	CLIP-seq
MIRT2178272	hsa-miR-762	CLIP-seq
MIRT2178273	hsa-miR-766	CLIP-seq
MIRT809521	hsa-miR-1228	CLIP-seq
MIRT1939164	hsa-miR-1258	CLIP-seq
MIRT809532	hsa-miR-3120-5p	CLIP-seq
MIRT1939170	hsa-miR-3122	CLIP-seq
MIRT1939173	hsa-miR-3165	CLIP-seq
MIRT1939177	hsa-miR-3622a-3p	CLIP-seq
MIRT1939178	hsa-miR-3622b-3p	CLIP-seq
MIRT1939179	hsa-miR-3656	CLIP-seq
MIRT809547	hsa-miR-3664-5p	CLIP-seq
MIRT809548	hsa-miR-3689a-3p	CLIP-seq
MIRT809549	hsa-miR-3689c	CLIP-seq
MIRT1939185	hsa-miR-3913-5p	CLIP-seq
MIRT1939186	hsa-miR-4266	CLIP-seq
MIRT809563	hsa-miR-4432	CLIP-seq
MIRT809577	hsa-miR-4522	CLIP-seq
MIRT809583	hsa-miR-4728-5p	CLIP-seq
MIRT1939195	hsa-miR-544b	CLIP-seq

148

Show/Hide all (148)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001568	Process	Blood vessel development	IEA
GO:0001568	Process	Blood vessel development	ISS
GO:0001836	Process	Release of cytochrome c from mitochondria	IEA
GO:0001974	Process	Blood vessel remodeling	IEA
GO:0001974	Process	Blood vessel remodeling	ISS
GO:0002082	Process	Regulation of oxidative phosphorylation	IEA
GO:0002082	Process	Regulation of oxidative phosphorylation	ISS
GO:0005375	Function	Copper ion transmembrane transporter activity	IEA
GO:0005375	Function	Copper ion transmembrane transporter activity	ISS
GO:0005507	Function	Copper ion binding	IBA
GO:0005507	Function	Copper ion binding	IDA	15670166
GO:0005507	Function	Copper ion binding	IEA
GO:0005515	Function	Protein binding	IPI	16051599, 16371425, 16884690, 21667063, 23563491, 26199316
GO:0005524	Function	ATP binding	IDA	19917612
GO:0005524	Function	ATP binding	IEA
GO:0005524	Function	ATP binding	TAS	9817923
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IEA
GO:0005770	Component	Late endosome	IDA	8943055
GO:0005783	Component	Endoplasmic reticulum	IDA	9467005
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	9467005
GO:0005794	Component	Golgi apparatus	IEA
GO:0005802	Component	Trans-Golgi network	IBA
GO:0005802	Component	Trans-Golgi network	IDA	8943055, 12812980
GO:0005802	Component	Trans-Golgi network	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	12812980
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006568	Process	L-tryptophan metabolic process	IEA
GO:0006568	Process	L-tryptophan metabolic process	ISS
GO:0006570	Process	Tyrosine metabolic process	IEA
GO:0006584	Process	Catecholamine metabolic process	IEA
GO:0006584	Process	Catecholamine metabolic process	ISS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006825	Process	Copper ion transport	IEA
GO:0006825	Process	Copper ion transport	IEA
GO:0006825	Process	Copper ion transport	IMP	11092760
GO:0006878	Process	Intracellular copper ion homeostasis	IBA
GO:0006878	Process	Intracellular copper ion homeostasis	IEA
GO:0006878	Process	Intracellular copper ion homeostasis	IEA
GO:0006878	Process	Intracellular copper ion homeostasis	IMP	16397091, 28389643
GO:0007005	Process	Mitochondrion organization	IEA
GO:0007005	Process	Mitochondrion organization	ISS
GO:0007626	Process	Locomotory behavior	IEA
GO:0007626	Process	Locomotory behavior	ISS
GO:0009101	Process	Glycoprotein biosynthetic process	ISS
GO:0010273	Process	Detoxification of copper ion	IEA
GO:0010273	Process	Detoxification of copper ion	ISS
GO:0010468	Process	Regulation of gene expression	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0015662	Function	P-type ion transporter activity	IEA
GO:0015677	Process	Copper ion import	IBA
GO:0015677	Process	Copper ion import	IEA
GO:0015677	Process	Copper ion import	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	16397091
GO:0016532	Function	Superoxide dismutase copper chaperone activity	IEA
GO:0016532	Function	Superoxide dismutase copper chaperone activity	ISS
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019430	Process	Removal of superoxide radicals	IEA
GO:0019430	Process	Removal of superoxide radicals	ISS
GO:0019829	Function	ATPase-coupled monoatomic cation transmembrane transporter activity	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	IEA
GO:0021702	Process	Cerebellar Purkinje cell differentiation	ISS
GO:0021860	Process	Pyramidal neuron development	IEA
GO:0021860	Process	Pyramidal neuron development	ISS
GO:0021954	Process	Central nervous system neuron development	IEA
GO:0021954	Process	Central nervous system neuron development	ISS
GO:0030140	Component	Trans-Golgi network transport vesicle	IMP	9817923
GO:0030198	Process	Extracellular matrix organization	IEA
GO:0030198	Process	Extracellular matrix organization	ISS
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	ISS
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0031069	Process	Hair follicle morphogenesis	ISS
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0031901	Component	Early endosome membrane	ISS
GO:0032588	Component	Trans-Golgi network membrane	IEA
GO:0032588	Component	Trans-Golgi network membrane	ISS
GO:0032767	Function	Copper-dependent protein binding	IDA	31283225
GO:0032767	Function	Copper-dependent protein binding	IPI	10497213
GO:0033162	Component	Melanosome membrane	IEA
GO:0033162	Component	Melanosome membrane	ISS
GO:0042093	Process	T-helper cell differentiation	IEA
GO:0042093	Process	T-helper cell differentiation	ISS
GO:0042414	Process	Epinephrine metabolic process	IEA
GO:0042414	Process	Epinephrine metabolic process	ISS
GO:0042415	Process	Norepinephrine metabolic process	IEA
GO:0042415	Process	Norepinephrine metabolic process	ISS
GO:0042417	Process	Dopamine metabolic process	IEA
GO:0042417	Process	Dopamine metabolic process	ISS
GO:0042421	Process	Norepinephrine biosynthetic process	IEA
GO:0042428	Process	Serotonin metabolic process	IEA
GO:0042428	Process	Serotonin metabolic process	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043005	Component	Neuron projection	ISS
GO:0043025	Component	Neuronal cell body	IEA
GO:0043025	Component	Neuronal cell body	ISS
GO:0043473	Process	Pigmentation	IEA
GO:0043473	Process	Pigmentation	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043588	Process	Skin development	IEA
GO:0043588	Process	Skin development	ISS
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	ISS
GO:0045202	Component	Synapse	IEA
GO:0045914	Process	Negative regulation of catecholamine metabolic process	IEA
GO:0046034	Process	ATP metabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048023	Process	Positive regulation of melanin biosynthetic process	IMP	11092760
GO:0048251	Process	Elastic fiber assembly	IEA
GO:0048251	Process	Elastic fiber assembly	ISS
GO:0048286	Process	Lung alveolus development	IEA
GO:0048286	Process	Lung alveolus development	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	8943055, 10567439, 16397091
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0048813	Process	Dendrite morphogenesis	IEA
GO:0051216	Process	Cartilage development	IEA
GO:0051216	Process	Cartilage development	ISS
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051649	Process	Establishment of localization in cell	IEA
GO:0060003	Process	Copper ion export	IBA
GO:0060003	Process	Copper ion export	IDA	10419525
GO:0060003	Process	Copper ion export	IEA
GO:0060003	Process	Copper ion export	IEA
GO:0060003	Process	Copper ion export	ISS
GO:0070050	Process	Neuron cellular homeostasis	IEA
GO:0098588	Component	Bounding membrane of organelle	IEA
GO:0140581	Function	P-type monovalent copper transporter activity	IDA	10419525
GO:0140581	Function	P-type monovalent copper transporter activity	IEA
GO:1903136	Function	Cuprous ion binding	IDA	31283225
GO:1903136	Function	Cuprous ion binding	IMP	14572476, 15035611

MIM	HGNC	e!Ensembl
300011	869	ENSG00000165240

Q04656

Protein name

Copper-transporting ATPase 1 (EC 7.2.2.8) (Copper pump 1) (Menkes disease-associated protein)

Protein function

ATP-driven copper (Cu(+)) ion pump that plays an important role in intracellular copper ion homeostasis (PubMed:10419525, PubMed:11092760, PubMed:28389643). Within a catalytic cycle, acquires Cu(+) ion from donor protein on the cytoplasmic side

PDB

1AW0 , 1KVI , 1KVJ , 1Q8L , 1S6O , 1S6U , 1Y3J , 1Y3K , 1YJR , 1YJT , 1YJU , 1YJV , 2AW0 , 2G9O , 2GA7 , 2K1R , 2KIJ , 2KMV , 2KMX , 3CJK , 5T7L , 7LU8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00403	HMA	11 → 72	Heavy-metal-associated domain	Domain
PF00403	HMA	174 → 235	Heavy-metal-associated domain	Domain
PF00403	HMA	280 → 340	Heavy-metal-associated domain	Domain
PF00403	HMA	380 → 441	Heavy-metal-associated domain	Domain
PF00403	HMA	492 → 552	Heavy-metal-associated domain	Domain
PF00403	HMA	567 → 628	Heavy-metal-associated domain	Domain
PF00122	E1-E2_ATPase	814 → 1022		Family
PF00702	Hydrolase	1038 → 1313		Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed including in heart, brain, lung, muscle, kidney, pancreas, and to a lesser extent placenta (PubMed:8490646, PubMed:8490659). Expressed in fibroblasts, aortic smooth muscle cells, aortic endothelial cells and umbilical

Sequence

MDPSMGVNSVTISVEGMTCNSCVWTIEQQIGKVNGVHHIKVSLEEKNATIIYDPKLQTPK
TLQEAIDDMGFDAVIHNPDPLPVLTDTLFLTVTASLTLPWDHIQSTLLKTKGVTDIKIYP
QKRTVAVTIIPSIVNANQIKELVPELSLDTGTLEKKSGACEDHSMAQAGEVVLKMKVEGM
TCHSCTSTIEGKIGKLQGVQRIKVSLDNQEATIVYQPHLISVEEMKKQIEAMGFPAFVKK
QPKYLKLGAIDVERLKNTPVKSSEGSQQRSPSYTNDSTATFIIDGMHCKSCVSNIESTLS
ALQYVSSIVVSLENRSAIVKYNASSVTPESLRKAIEAVSPGLYRVSITSEVESTSNSPSS
SSLQKIPLNVVSQPLTQETVINIDGMTCNSCVQSIEGVISKKPGVKSIRVSLANSNGTVE
YDPLLTSPETLRGAIEDMGFDATLSDTNEPLVVIAQPSSEMPLLTSTNEFYTKGMTPVQD
KEEGKNSSKCYIQVTGMTCASCVANIERNLRREEGIYSILVALMAGKAEVRYNPAVIQPP
MIAEFIRELGFGATVIENADEGDGVLELVVRGMTCASCVHKIESSLTKHRGILYCSVALA
TNKAHIKYDPEIIGPRDIIHTIESLGFEASLVKKDRSASHLDHKREIRQWRRSFLVSLFF
CIPVMGLMIYMMVMDHHFATLHHNQNMSKEEMINLHSSMFLERQILPGLSVMNLLSFLLC
VPVQFFGGWYFYIQAYKALKHKTANMDVLIVLATTIAFAYSLIILLVAMYERAKVNPITF
FDTPPMLFVFIALGRWLEHIAKGKTSEALAKLISLQATEATIVTLDSDNILLSEEQVDVE
LVQRGDIIKVVPGGKFPVDGRVIEGHSMVDESLITGEAMPVAKKPGSTVIAGSINQNGSL
LICATHVGADTTLSQIVKLVEEAQTSKAPIQQFADKLSGYFVPFIVFVSIATLLVWIVIG
FLNFEIVETYFPGYNRSISRTETIIRFAFQASITVLCIACPCSLGLATPTAVMVGTGVGA
QNGILIKGGEPLEMAHKVKVVVFDKTGTITHGTPVVNQVKVLTESNRISHHKILAIVGTA
ESNSEHPLGTAITKYCKQELDTETLGTCIDFQVVPGCGISCKVTNIEGLLHKNNWNIEDN
NIKNASLVQIDASNEQSSTSSSMIIDAQISNALNAQQYKVLIGNREWMIRNGLVINNDVN
DFMTEHERKGRTAVLVAVDDELCGLIAIADTVKPEAELAIHILKSMGLEVVLMTGDNSKT
ARSIASQVGITKVFAEVLPSHKVAKVKQLQEEGKRVAMVGDGINDSPALAMANVGIAIGT
GTDVAIEAADVVLIRNDLLDVVASIDLSRKTVKRIRINFVFALIYNLVGIPIAAGVFMPI
GLVLQPWMGSAAMAASSVSVVLSSLFLKLYRKPTYESYELPARSQIGQKSPSEISVHVGI
DDTSRNSPKLGLLDRIVNYSRASINSLLSDKRSLNSVVTSEPDKHSLLVGDFREDDDTAL

Sequence length

1500

Interactions

View interactions

	KEGG		Reactome
	Platinum drug resistance Mineral absorption		Ion influx/efflux at host-pathogen interface Ion transport by P-type ATPases

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)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ATP7A-related disorder	Likely pathogenic; Pathogenic	rs2522290057, rs797045397, rs2522419324, rs2522293582, rs1557238665	RCV005869794 RCV004725044 RCV003400363 RCV003949025 RCV004742494	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease	Pathogenic	rs267606672	RCV000789728	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cutis laxa, X-linked	Likely pathogenic; Pathogenic	rs2149097380, rs797045357, rs2149095968, rs797045347, rs2149083118, rs2149109587, rs2522414410, rs2522293121, rs2522414777, rs2522289608, rs2522290463, rs2522295420, rs2522350411, rs797045397, rs2522347918 View all (104 more)	RCV001775413 RCV002019219 RCV002044567 RCV002049796 RCV001898748 View all (116 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Menkes kinky-hair syndrome	Pathogenic; Likely pathogenic	rs2149094952, rs2149112273, rs797045357, rs2149095968, rs797045347, rs2149083118, rs2149109587, rs2149113551, rs2149083474, rs2522414410, rs2522293121, rs2522414777, rs2522289608, rs2522290463, rs2522295420 View all (177 more)	RCV001374410 RCV001805754 RCV002019219 RCV002044567 RCV002049796 View all (199 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
X-linked distal spinal muscular atrophy type 3	Likely pathogenic; Pathogenic	rs797045357, rs2149095968, rs797045347, rs2149083118, rs2149109587, rs2149095964, rs2149100212, rs2149082699, rs2149090269, rs2149110457, rs398123135, rs797045331, rs2522414410, rs2522293121, rs2522414777 View all (105 more)	RCV002019219 RCV002044567 RCV002049796 RCV001898748 RCV001951484 View all (118 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (33)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANEMIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AORTIC RUPTURE	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATP7A-realted disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Au-Kline syndrome	Uncertain significance	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Charcot-Marie-Tooth disease type 2	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUTIS LAXA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	ClinVar Disgenet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GROWTH DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEMOLYSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEPATITIS, CHRONIC	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
History of neurodevelopmental disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, PULMONARY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER NEOPLASMS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Menkes disease, copper-replacement responsive	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Menkes disease, mild	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronopathy, distal hereditary motor, autosomal dominant 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, X-LINKED	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARALYSIS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, DISTAL, X-LINKED 3	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREMOR	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VASCULAR SYSTEM INJURIES	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (194)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of large intestine	Colorectal Cancer	BEFREE	19296535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	30842251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22210628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	22210628, 31959876, 37849306	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	CTD_human_DG	23776592		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Aneurysm, Ruptured	Aortic Aneurysm	CTD_human_DG	2346371, 25449986		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Rupture	Aortic Rupture	CTD_human_DG	2346371, 25449986		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arteriosclerosis	Arteriosclerosis	BEFREE	19965596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	37547319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	19965596		★★★★★ ★☆☆☆☆ Found in Text Mining only
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Diverticulum	Bladder Diverticulum	BEFREE	31758979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bladder Diverticulum	Bladder Diverticulum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27806319, 27926520, 29269484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24504069, 27926520, 29269484, 35996075, 37027423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcium pyrophosphate deposition disease	Chondrocalcinosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37885090	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33146201, 36502594, 37464443, 37885090	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29594361, 31839712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar Diseases	BEFREE	26242992		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	26242992	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31327462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31327462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	29351582		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Childhood Medulloblastoma	Medulloblastoma	BEFREE	30842251		★★★★★ ★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	22815746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32427278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	17510416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	17510416		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Complex partial seizures	Seizure	CTD_human_DG	22815746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of clavicle	Short clavicles	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	31336972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cutis Laxa	Cutis Laxa	GENOMICS_ENGLAND_DG	20170900		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis Laxa	Cutis Laxa	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cutis laxa, x-linked	Cutis Laxa, X-Linked	BEFREE	10739752, 11241493, 11431706, 11936860, 12537648, 12594858, 15238919, 17108763, 17496194, 20170900, 21208200, 21221114, 22074552, 23281160, 24002164 View all (12 more)		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis laxa, x-linked	Cutis Laxa, X-Linked	UNIPROT_DG	11431706, 17108763, 21667063, 9246006		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis laxa, x-linked	Cutis Laxa, X-Linked	GENOMICS_ENGLAND_DG	15372525, 20170900, 23035047		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis laxa, x-linked	Cutis Laxa, X-Linked	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cutis laxa, x-linked	Cutis Laxa, X-Linked	CTD_human_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	22210628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	22210628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	32427278	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37773841	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29301787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29301787		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	25403230, 31684984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Digestive System Neoplasms	Digestive system neoplasm	Pubtator	36502594	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal Hereditary Motor Neuropathy Type II	Distal hereditary motor neuropathy	Pubtator	20170900, 31969342	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	19917666, 22210628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	8673139		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Epilepsy	Epilepsy	BEFREE	20652413, 24882692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	20652413	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	22815746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia Variabilis 3	Erythrokeratodermia variabilis	Pubtator	31630791	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ERYTHROKERATODERMIA VARIABILIS 3 (disorder)	Erythrokeratoderma	BEFREE	31630791		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	34747666, 37027423	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Esophagitis	Esophagitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	22815746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27364770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27364770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	27364770		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	40355831	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	11415452, 23963605, 35913762, 38136617, 9359859, 9813047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	14579150, 18688737, 24120082, 31283225, 8298641, 8921375, 9147644, 9215673, 9359859		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	LHGDN	18688737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	23622398		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hernia, Femoral	Hernia, Femoral	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hiatal Hernia	Hiatal Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypersensitivity Delayed	Hypersensitivity	Pubtator	25281031	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	24614111		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocupremia	Hypocupremia	BEFREE	10484781, 11092760, 12730448, 15923132, 17717039, 18688737, 19008952, 20170900, 21208200, 21242307, 21454443, 22130675, 24365357, 26747866, 27881675, 28219768, 29867144, 31250568 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypopigmentation disorder	Hypopigmentation Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	31590180		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35715422	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	29572167		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intravascular hemolysis	Intravascular Hemolysis	CTD_human_DG	25247420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	22815746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	27094611		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	27462781	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	27462781, 31260185	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	30142961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	28331341		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27806319, 27926520, 29269484		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29594361, 31839712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	21199646		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19329124		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19114980, 27364770, 28164761, 30496989, 30530920, 30890638, 31719821, 31839712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31327462		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	17510416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	17510416		★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	25193863	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	30842251		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29146972, 8856498		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELORHEOSTOSIS, ISOLATED	Melorheostosis	BEFREE	29146972		★★★★★ ★☆☆☆☆ Found in Text Mining only
Menkes disease	Menkes Disease	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	BEFREE	10079817, 10319589, 10332039, 10400994, 10739752, 11043517, 11241493, 11386751, 11431706, 11936860, 12372948, 12393797, 12485192, 12537648, 12539960 View all (72 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	UNIPROT_DG	10079817, 10319589, 10401004, 11241493, 11350187, 15981243, 21667063, 22992316, 7977350, 8981948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	CTD_human_DG	11092760, 11157799, 11350187, 12221109, 12228238, 14579150, 15923132, 16435190, 16824500, 17003121, 17009961, 17483305, 18779302, 20831904, 21242307 View all (13 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	LHGDN	11936860, 12539960, 12539963, 14635105, 16826513, 17178205, 17496194, 17717039, 18272047, 18752978		★★★★★ ★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	GENOMICS_ENGLAND_DG	14635105, 15372525, 16278898, 20170900, 23035047, 28495940		★★★★★ ★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	CLINGEN_DG	16488577, 17483305, 21738351, 25456742, 25771438, 7977350, 8981948		★★★★★ ★☆☆☆☆ Found in Text Mining only
Menkes Kinky Hair Syndrome	Menkes Kinky Hair Syndrome	CLINVAR_DG	21494555		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	30496989, 31396659		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	22210628, 29599289		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	22210628, 24754450	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	24754450		★★★★★ ★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya Disease	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22370634		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	38018590	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	22210628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25557051, 28819394, 29323792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	19127267		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19127267, 21909813	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	20170900, 21646353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	21646353, 25496901, 26747866		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	28355134		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental disorder	Pubtator	31921404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	17549255		★★★★★ ★☆☆☆☆ Found in Text Mining only
NEUROTICISM	Neuroticism	BEFREE	31719821		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22304828, 24038379, 26033426, 29970670		★★★★★ ★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	17549255, 19596068, 19917666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Occipital horn syndrome	Occipital Horn Syndrome	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osseous ankylosis	Osseous Ankylosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	30530920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	LHGDN	18565219		★★★★★ ★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29594361, 31839712		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35645119, 39337685	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26609108	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25496901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pelvic bone exostoses	Pelvic bone exostoses	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	20170900, 20497190, 21221114, 22210628, 23622398, 24735419, 24754450, 25172213, 27293072, 29325617, 29599289, 31558336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	22210628	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	22210628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25605250, 37460872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	33564073	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	35715422	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sialic Acid Storage Disease, Finnish Type (disorder)	Sialic Acid Storage Disease	BEFREE	19917666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sialuria	Sialuria	BEFREE	19917666		★★★★★ ★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	22815746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	20497190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	25070243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal muscular atrophy Jerash type	Spinal muscular atrophy	Pubtator	20170900, 20497190, 22210628, 24754450, 25574028, 29599289	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy, Distal, X-Linked 3	Spinal Muscular Atrophy, X-Linked	GENOMICS_ENGLAND_DG	15372525, 20170900, 23035047		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy, Distal, X-Linked 3	Spinal Muscular Atrophy, X-Linked	UNIPROT_DG	20170900		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy, Distal, X-Linked 3	Spinal Muscular Atrophy, X-Linked	ORPHANET_DG	20170900		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy, Distal, X-Linked 3	Spinal Muscular Atrophy, X-Linked	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy, Distal, X-Linked 3	Spinal Muscular Atrophy, X-Linked	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spontaneous hematomas	Hematomas	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36618352	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19329124		★★★★★ ★☆☆☆☆ Found in Text Mining only
STOMATOCYTOSIS I	Stomatocytosis	BEFREE	11936860		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tarsal Coalition	Tarsal Coalition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	22815746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Tremor, Rubral	Rubral Tremor	CTD_human_DG	22815746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	37259036	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	31921404	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner syndrome	Pubtator	39940742	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neurogenic	Neurogenic bladder	Pubtator	30530920	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28665070		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	35908410	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	22134099	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	22815746		★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked distal spinal muscular atrophy type 3	Spinal Muscular Atrophy, X-Linked	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

ATP7A (ATPase copper transporting alpha)