ATP7A (ATPase copper transporting alpha)

Gene

• Entrez ID: 538
• Gene name: ATPase copper transporting alpha
• Gene symbol: ATP7A
• Synonyms: DSMAX, HMNX, MK, MNK, SMAX3
• 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

SNPs

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

miRNA

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 assay, qRT-PCR, Western 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

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001568	Process	Blood vessel development	ISS
GO:0001701	Process	In utero embryonic development	IEA
GO:0001889	Process	Liver development	IEA
GO:0001974	Process	Blood vessel remodeling	ISS
GO:0002082	Process	Regulation of oxidative phosphorylation	ISS
GO:0005375	Function	Copper ion transmembrane transporter activity	ISS
GO:0005507	Function	Copper ion binding	IDA	15670166
GO:0005515	Function	Protein binding	IPI	16051599, 16884690, 21667063, 23563491
GO:0005524	Function	ATP binding	TAS	9817923
GO:0005634	Component	Nucleus	IEA
GO:0005770	Component	Late endosome	IDA	8943055
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	9467005
GO:0005802	Component	Trans-Golgi network	IBA	21873635
GO:0005802	Component	Trans-Golgi network	IDA	8943055, 12812980
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IDA	12812980
GO:0005886	Component	Plasma membrane	TAS
GO:0005902	Component	Microvillus	IEA
GO:0006568	Process	Tryptophan metabolic process	ISS
GO:0006584	Process	Catecholamine metabolic process	ISS
GO:0006825	Process	Copper ion transport	IMP	11092760
GO:0006878	Process	Cellular copper ion homeostasis	IBA	21873635
GO:0006878	Process	Cellular copper ion homeostasis	IMP	16397091
GO:0007005	Process	Mitochondrion organization	ISS
GO:0007565	Process	Female pregnancy	IEA
GO:0007595	Process	Lactation	IEA
GO:0007626	Process	Locomotory behavior	ISS
GO:0010041	Process	Response to iron(III) ion	IEA
GO:0010042	Process	Response to manganese ion	IEA
GO:0010043	Process	Response to zinc ion	IEA
GO:0010273	Process	Detoxification of copper ion	ISS
GO:0010468	Process	Regulation of gene expression	IEA
GO:0010592	Process	Positive regulation of lamellipodium assembly	IEA
GO:0015677	Process	Copper ion import	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	IEA
GO:0016323	Component	Basolateral plasma membrane	IDA	16397091
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016532	Function	Superoxide dismutase copper chaperone activity	ISS
GO:0018205	Process	Peptidyl-lysine modification	ISS
GO:0019430	Process	Removal of superoxide radicals	ISS
GO:0019730	Process	Antimicrobial humoral response	TAS
GO:0021702	Process	Cerebellar Purkinje cell differentiation	ISS
GO:0021860	Process	Pyramidal neuron development	ISS
GO:0021954	Process	Central nervous system neuron development	ISS
GO:0030140	Component	Trans-Golgi network transport vesicle	IMP	9817923
GO:0030141	Component	Secretory granule	IEA
GO:0030198	Process	Extracellular matrix organization	ISS
GO:0030199	Process	Collagen fibril organization	ISS
GO:0030670	Component	Phagocytic vesicle membrane	TAS
GO:0031069	Process	Hair follicle morphogenesis	ISS
GO:0031252	Component	Cell leading edge	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0032767	Function	Copper-dependent protein binding	IPI	10497213
GO:0034220	Process	Ion transmembrane transport	TAS
GO:0034760	Process	Negative regulation of iron ion transmembrane transport	IEA
GO:0036120	Process	Cellular response to platelet-derived growth factor stimulus	IEA
GO:0042093	Process	T-helper cell differentiation	ISS
GO:0042414	Process	Epinephrine metabolic process	ISS
GO:0042415	Process	Norepinephrine metabolic process	ISS
GO:0042417	Process	Dopamine metabolic process	ISS
GO:0042428	Process	Serotonin metabolic process	ISS
GO:0043005	Component	Neuron projection	ISS
GO:0043025	Component	Neuronal cell body	ISS
GO:0043085	Process	Positive regulation of catalytic activity	ISS
GO:0043204	Component	Perikaryon	IEA
GO:0043473	Process	Pigmentation	ISS
GO:0043588	Process	Skin development	ISS
GO:0043682	Function	P-type divalent copper transporter activity	IBA	21873635
GO:0043682	Function	P-type divalent copper transporter activity	ISS
GO:0045121	Component	Membrane raft	IEA
GO:0045793	Process	Positive regulation of cell size	IEA
GO:0048251	Process	Elastic fiber assembly	ISS
GO:0048286	Process	Lung alveolus development	ISS
GO:0048471	Component	Perinuclear region of cytoplasm	IBA	21873635
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	8943055, 10567439, 16397091
GO:0048812	Process	Neuron projection morphogenesis	ISS
GO:0050679	Process	Positive regulation of epithelial cell proliferation	IEA
GO:0051087	Function	Chaperone binding	IEA
GO:0051216	Process	Cartilage development	ISS
GO:0051353	Process	Positive regulation of oxidoreductase activity	IDA	11092760
GO:0051542	Process	Elastin biosynthetic process	ISS
GO:0060003	Process	Copper ion export	IBA	21873635
GO:0060003	Process	Copper ion export	ISS
GO:0071230	Process	Cellular response to amino acid stimulus	IEA
GO:0071236	Process	Cellular response to antibiotic	IEA
GO:0071276	Process	Cellular response to cadmium ion	IEA
GO:0071279	Process	Cellular response to cobalt ion	IEA
GO:0071280	Process	Cellular response to copper ion	IEA
GO:0071281	Process	Cellular response to iron ion	IEA
GO:0071284	Process	Cellular response to lead ion	IEA
GO:0071456	Process	Cellular response to hypoxia	IEA
GO:0098662	Process	Inorganic cation transmembrane transport	IEA
GO:1903036	Process	Positive regulation of response to wounding	IEA
GO:1903136	Function	Cuprous ion binding	IMP	14572476, 15035611
GO:1904754	Process	Positive regulation of vascular associated smooth muscle cell migration	IEA
GO:1904959	Process	Regulation of cytochrome-c oxidase activity	IEA

Other IDs

• MIM: 300011
• HGNC: 869
• e!Ensembl: ENSG00000165240

Protein

• UniProt ID: 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

• 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

Pathways

KEGG:

Platinum drug resistance
Mineral absorption

Reactome:

Ion influx/efflux at host-pathogen interface
Ion transport by P-type ATPases

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505	23776592
Aortic aneurysm	Aortic Aneurysm, Ruptured	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530	25449986, 2346371
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Chondrocalcinosis	Calcium pyrophosphate deposition disease	rs121908405, rs28939080, rs121908407, rs2126640512, rs121908408, rs121908409, rs121908410
Colonic neoplasms	Malignant tumor of colon, Colonic Neoplasms	rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483	17510416
Cutis laxa	Cutis Laxa	rs80356758, rs80356750, rs119489101, rs119489102, rs193302865, rs121918374, rs121918375, rs1598354372, rs1371235353, rs1598358449, rs121918376, rs121918377, rs121918378, rs137854453, rs1797225811, rs80356756, rs367543007, rs80356751, rs80356753, rs193302868, rs193302867, rs193302869, rs193302870, rs193302864, rs193302866, rs1566294545, rs397514683, rs794729201, rs752669339, rs863225044, rs863225045, rs886039351, rs745590426, rs144346996, rs1060505031, rs1028534806, rs1060505037, rs139751598, rs762218403, rs755867227, rs1555042727, rs888015688, rs1591064775, rs1598358440, rs752297179, rs1180294322	20170900
Cutis laxa, x-linked	Cutis laxa, x-linked	rs151340631, rs151340632, rs797045344	21667063, 20170900, 17108763, 9246006, 23035047, 15372525, 11431706
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Developmental regression	Developmental regression	rs1224421127
Menkes kinky hair syndrome	Menkes Kinky Hair Syndrome	rs151340631, rs72554649, rs72554652, rs151340632, rs151340633, rs267606672, rs794729231, rs797045397, rs797045399, rs797045400, rs797045325, rs797045327, rs797045329, rs797045330, rs797045331, rs797045332, rs797045333, rs797045336, rs797045337, rs797045338, rs797045339, rs72554639, rs72554640, rs797045340, rs797045341, rs797045342, rs797045343, rs797045344, rs797045346, rs797045348, rs797045347, rs797045349, rs72554644, rs797045351, rs797045352, rs797045353, rs797045354, rs72554645, rs797045355, rs797045356, rs797045357, rs797045359, rs797045358, rs797045360, rs797045361, rs797045362, rs797045363, rs797045364, rs72554650, rs797045365, rs797045366, rs797045367, rs797045368, rs797045369, rs797045370, rs797045372, rs797045373, rs797045374, rs797045375, rs797045376, rs797045377, rs797045378, rs797045379, rs797045380, rs797045382, rs797045383, rs797045384, rs797045385, rs797045386, rs797045387, rs797045388, rs797045389, rs797045390, rs797045391, rs797045392, rs797045394, rs797045393, rs797045395, rs797045396, rs797045398, rs67273048, rs1064796648, rs1557237050, rs1557238588, rs1557236754, rs1569550143, rs1603387278, rs1603391127	17483305, 20831904, 15372525, 22130675, 16278898, 16435190, 8981948, 23064757, 24627433, 25247420, 21242307, 15923132, 14579150, 22815746, 14635105, 23035047, 17009961, 22664332, 26199316, 10401004, 11241493, 7977350, 16824500, 20170900, 22992316, 15981243, 11350187, 10319589, 21738351, 22455587, 12228238, 16488577, 21667063, 25003971, 17003121, 10079817, 18779302, 22695177, 25771438, 12221109, 25456742, 22728746, 21494555, 11157799, 11092760, 22981378, 28495940
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Microcephaly	Microcephaly	rs397704721, rs267607176, rs267607177, rs397704725, rs267606717, rs267606718, rs199422202, rs121434311, rs199422203, rs199422126, rs387906274, rs121434305, rs199422125, rs199422135, rs189678019, rs199422184, rs137852994, rs137852995, rs137852996, rs137852997, rs145489194, rs80338860, rs137852494, rs121918609, rs199422207, rs199422206, rs29001566, rs864321658, rs199422138, rs199422139, rs199422141, rs199422144, rs199422147, rs199422151, rs199422152, rs199422153, rs199422157, rs199422159, rs199422160, rs199422161, rs140602858, rs199422164, rs199422165, rs148294838, rs199422134, rs199422168, rs199422172, rs199422173, rs199422131, rs199422177, rs199422180, rs199422185, rs199422186, rs199422187, rs143931757, rs199422189, rs199422192, rs199422194, rs199422195, rs199422196, rs199422197, rs199422199, rs753597039, rs1488084787, rs387906961, rs755862917, rs387907082, rs587776899, rs387907083, rs587776900, rs587776901, rs387907084, rs863223322, rs764201220, rs202247811, rs763915472, rs587776986, rs587777036, rs398122971, rs374351172, rs373278668, rs398122976, rs121909123, rs587783393, rs730882076, rs587783211, rs144716013, rs606231255, rs587783215, rs587783216, rs587783220, rs587783221, rs587783225, rs587783227, rs587783228, rs587783230, rs587783238, rs587783239, rs587783240, rs587783245, rs587783247, rs587783248, rs587783258, rs587783259, rs587783263, rs587783265, rs587783268, rs587783269, rs587783272, rs587783275, rs587783277, rs587783278, rs587783280, rs587783282, rs587783283, rs587783285, rs587783287, rs587783288, rs587783289, rs587783292, rs587783295, rs587784452, rs587783741, rs587783735, rs587783392, rs587783390, rs587783387, rs587783410, rs202058504, rs587783423, rs587783421, rs587783414, rs587784553, rs587784558, rs587784546, rs587784549, rs587784554, rs587784412, rs876661307, rs869025200, rs747831095, rs748529285, rs797045316, rs797045315, rs797045314, rs759632528, rs797045313, rs797045311, rs754282058, rs797045441, rs797045454, rs797045430, rs869312853, rs797046109, rs767399782, rs863225127, rs863225464, rs863225465, rs780270096, rs864321621, rs864321620, rs775277800, rs879253817, rs869312824, rs761447719, rs753406334, rs147622433, rs199422137, rs879255522, rs879255524, rs879255523, rs886037892, rs886037893, rs886037894, rs886037895, rs199422169, rs886041709, rs886041282, rs138228629, rs759188041, rs769688376, rs1057517688, rs1057519087, rs1057518268, rs933106143, rs201362977, rs754909135, rs1057520873, rs1060499758, rs1060499757, rs199422146, rs748016594, rs1085307120, rs763715733, rs1064795945, rs763800571, rs1554728351, rs1553227021, rs555866170, rs1553895368, rs1334947797, rs769818500, rs1321892596, rs1553227645, rs1404276011, rs1553228275, rs1554471681, rs1554496609, rs1555420891, rs1555418825, rs587784548, rs1555723585, rs199736219, rs745997770, rs765275884, rs1553924800, rs1554730137, rs1229568621, rs1482100822, rs979186313, rs758157294, rs1555294652, rs1555299107, rs1553264033, rs1553259539, rs1553254322, rs1553259528, rs981349334, rs1553264036, rs1553253022, rs754267846, rs776034810, rs1342429887, rs752140135, rs1006898944, rs571640983, rs1477524771, rs763909256, rs199910503, rs1553223496, rs759663956, rs1553446603, rs1555139372, rs1555143325, rs1350194762, rs1555141158, rs1553225179, rs769481947, rs769364943, rs748011724, rs1334301723, rs746341112, rs149225624, rs765113367, rs1567024512, rs142865061, rs772050241, rs201721894, rs1557966012, rs1379578836, rs1568334868, rs1185537869, rs1602333390, rs1163303148, rs774338373, rs770540184, rs1571600045, rs1571601267, rs1571602991, rs1588472215, rs1599841026, rs1558328287, rs1571600860, rs1571596976, rs1309880692, rs1435239428, rs1588634016, rs1751797979, rs1810830776, rs1815354949, rs1949984655, rs886039658, rs1943461045, rs777711720, rs2031759596, rs1555710223, rs1221031683, rs774069989, rs2058919680, rs1170413397, rs1213710245, rs1599851667, rs1599760058, rs1971033478, rs746967357
Moyamoya disease	Moyamoya Disease	rs121434527, rs121434528, rs387906592, rs397514563, rs797045187, rs1555675538, rs1568149971, rs1599150380, rs2079443410
Osteomyelitis	Osteomyelitis	rs11125529, rs10936599, rs7675998, rs398652, rs755017
Osteoporosis	Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Seizure	Complex partial seizures, Generalized seizures, Visual seizure, Tonic - clonic seizures, Single Seizure	rs587784365, rs28939683, rs74315390, rs28939684, rs74315391, rs267607198, rs74315392, rs118192244, rs118192250, rs121917749, rs121917750, rs121917751, rs121917752, rs267606670, rs267607061, rs121912707, rs118192249, rs118192251, rs118192217, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192241, rs118192242, rs118192185, rs118192188, rs118192245, rs118192246, rs118192186, rs118192194, rs118192197, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192211, rs118192216, rs118192239, rs387906684, rs387906686, rs387906687, rs1596893185, rs387907126, rs387907281, rs397515405, rs587778771, rs730882067, rs730882073, rs397514579, rs397514582, rs587776976, rs398122394, rs121918784, rs121918751, rs121918735, rs398123588, rs587780450, rs61749751, rs587777620, rs727503974, rs730882124, rs794726710, rs794726697, rs794726799, rs794727444, rs794727740, rs796053166, rs794726825, rs796052676, rs796053219, rs796053220, rs796053228, rs796052653, rs759584387, rs796052650, rs796052641, rs796052626, rs796052623, rs796052663, rs796052615, rs796052802, rs797044999, rs797045047, rs797045942, rs797045941, rs118192212, rs797044938, rs777257591, rs864321712, rs879255652, rs886039268, rs886039517, rs886039529, rs199497486, rs886039496, rs886039903, rs886041300, rs769827124, rs886041339, rs886041591, rs587783092, rs1555850151, rs1057516123, rs1057516121, rs1057516115, rs1057516111, rs1057516106, rs1057516105, rs756921902, rs1057516089, rs1057516087, rs1057516080, rs1057516076, rs1060499544, rs1555850512, rs1057517919, rs118192231, rs1057520413, rs1060503101, rs1064796294, rs1064794981, rs1064794632, rs1064797245, rs1131691830, rs1131692231, rs1131691936, rs1554626549, rs1553579225, rs1553531385, rs121918736, rs1554898088, rs1553579282, rs763353895, rs1553463119, rs1554093891, rs77838305, rs1555408401, rs1554627439, rs1554097873, rs1555850403, rs1064794719, rs1315483224, rs1567134495, rs770187706, rs1057518555, rs1576983339, rs1574192005, rs1459374430, rs1586800133, rs1574641522, rs1572096837, rs1572630269, rs1574554892, rs1574556643, rs1574571769, rs1574641605, rs1574697769, rs1574716524, rs1574746733, rs1574746935, rs1574752700, rs1574754680, rs863225030, rs1601545088, rs1600714727, rs1371059392, rs1600767259, rs1339542565, rs1600785769, rs2065899210, rs1600732174, rs1162306056, rs879255709, rs1900111672, rs2066910297, rs1554122080, rs796052941, rs1600789325, rs2082695884, rs1737677036, rs1737495759, rs868389022, rs1737685202, rs1737672350, rs762737130	22815746
Spinal muscular atrophy	Spinal Muscular Atrophy	rs104893922, rs1554066397, rs77804083, rs104893930, rs104893927, rs104893935, rs387906738, rs398123028, rs371707778, rs398123030, rs587780564, rs713993043, rs727505393, rs797044855, rs863223361, rs797045412, rs869320621, rs879254085, rs1057518083, rs1064795760, rs1131691347, rs1554082383, rs1554338262, rs1561503058, rs1564061982, rs141760116, rs1217001154, rs1561498701, rs77668214, rs1587671674, rs972425138, rs1595599240, rs1587668077, rs1587668748, rs1587668769, rs1263279945, rs1889019962
Spinal muscular atrophy, x-linked	Spinal Muscular Atrophy, Distal, X-Linked 3, X-linked distal spinal muscular atrophy type 3	rs80356546, rs267606672, rs1557236729	23035047, 20170900, 15372525

Unknown
Disease name	Disease term	dbSNP ID	References
Aortic rupture	Aortic Rupture		25449986, 2346371
Avascular necrosis of the capital femoral epiphysis	Avascular necrosis of the capital femoral epiphysis
Bladder carcinoma	Carcinoma of bladder
Bladder diverticulum	Bladder Diverticulum
Brachycephaly	Brachycephaly
Clonic seizures	Clonic Seizures		22815746
Congenital exomphalos	Congenital exomphalos
Short clavicles	Congenital hypoplasia of clavicle
Congenital pectus carinatum	Congenital pectus carinatum
Congenital pectus excavatum	Congenital pectus excavatum
Distal amyotrophy	Distal amyotrophy	rs1457770815
Dwarfism	Dwarfism
Dysphagia	Deglutition Disorders
Eosinophilia	Esophagitis
Gastroesophageal reflux disease	Gastroesophageal reflux disease
Gastroparesis	Gastroparesis
Hematomas	Spontaneous hematomas
Hernia, femoral	Hernia, Femoral
Hiatal hernia	Hiatal Hernia
High palate	Byzanthine arch palate
Hydronephrosis	Hydronephrosis
Hypoglycemia	Hypoglycemia
Hypopigmentation disorder	Hypopigmentation disorder
Hypotonic seizures	Epileptic drop attack		22815746
Intravascular hemolysis	Intravascular hemolysis		25247420
Jacksonian seizure	Jacksonian Seizure		22815746
Legg-calve-perthes disease	Legg-Calve-Perthes Disease
Malabsorption syndrome	Malabsorption Syndrome
Menkes disease	Menkes disease
Micrognathism	Micrognathism
Occipital horn syndrome	Occipital horn syndrome
Osseous ankylosis	Osseous ankylosis
Osteopenia	Osteopenia
Pelvic bone exostoses	Pelvic bone exostoses
Rickets	Rickets, Adult Rickets
Rubral tremor	Tremor, Rubral		22815746
Specific learning disorder	Specific learning disability	rs1057519497
Tarsal coalition	Tarsal Coalition
Venous insufficiency	Venous Insufficiency