CLPB (ClpB family mitochondrial disaggregase)

Gene

• Entrez ID: 81570
• Gene name: ClpB family mitochondrial disaggregase
• Gene symbol: CLPB
• Synonyms (NCBI Gene): ANKCLB, ANKCLP, HSP78, MEGCANN, MGCA7, MGCA7A, SCN9, SKD3
• Disease Acronyms (UniProt): MGCA7A, SCN9
• Chromosome: 11
• Chromosome location: 11q13.4
• Summary: This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA repl

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs144078282	T>A,C	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs150857620	T>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs185461628	G>A	Pathogenic	Stop gained, coding sequence variant
rs200203460	G>A,C,T	Pathogenic	Genic downstream transcript variant, missense variant, stop gained, coding sequence variant, synonymous variant
rs374473067	C>A	Pathogenic	Stop gained, coding sequence variant, intron variant
rs375934856	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs748010262	G>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs748915609	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs759500860	C>A	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs777202372	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs777313457	T>C	Pathogenic	Missense variant, coding sequence variant
rs786205137	C>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs786205138	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs786205139	T>A	Pathogenic	Stop gained, coding sequence variant
rs876657402	A>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886041117	C>T	Pathogenic	Missense variant, coding sequence variant
rs886041118	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs886041119	->C	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs886041120	A>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs974377052	C>T	Pathogenic	Splice donor variant
rs1064796757	T>G	Likely-pathogenic	Missense variant, intron variant, coding sequence variant
rs1064796961	ATG>-	Likely-pathogenic	Inframe deletion, genic downstream transcript variant, coding sequence variant
rs1466435969	G>A	Pathogenic	Stop gained, coding sequence variant
rs1555086480	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1555087619	C>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1565424666	C>A	Pathogenic	Intron variant, genic downstream transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052510	hsa-let-7a-5p	CLASH	23622248
MIRT043166	hsa-miR-324-5p	CLASH	23622248
MIRT724068	hsa-miR-3606-3p	HITS-CLIP	19536157
MIRT724067	hsa-miR-513a-3p	HITS-CLIP	19536157
MIRT724066	hsa-miR-513c-3p	HITS-CLIP	19536157
MIRT724065	hsa-miR-595	HITS-CLIP	19536157
MIRT724064	hsa-miR-5009-3p	HITS-CLIP	19536157
MIRT724063	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT724062	hsa-miR-299-5p	HITS-CLIP	19536157
MIRT724061	hsa-miR-3685	HITS-CLIP	19536157
MIRT724060	hsa-miR-384	HITS-CLIP	19536157
MIRT695563	hsa-miR-4797-5p	HITS-CLIP	23313552
MIRT695562	hsa-miR-3664-5p	HITS-CLIP	23313552
MIRT695561	hsa-miR-5586-3p	HITS-CLIP	23313552
MIRT659470	hsa-miR-4453	HITS-CLIP	23313552
MIRT659469	hsa-miR-4538	HITS-CLIP	23313552
MIRT695560	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT695559	hsa-miR-759	HITS-CLIP	23313552
MIRT695558	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT695557	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT695556	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT695555	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT695554	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT695553	hsa-miR-3120-5p	HITS-CLIP	23313552
MIRT695552	hsa-miR-4522	HITS-CLIP	23313552
MIRT695551	hsa-miR-873-3p	HITS-CLIP	23313552
MIRT659465	hsa-miR-625-5p	HITS-CLIP	23313552
MIRT659464	hsa-miR-4723-5p	HITS-CLIP	23313552
MIRT659463	hsa-miR-5698	HITS-CLIP	23313552
MIRT659462	hsa-miR-6870-5p	HITS-CLIP	23313552
MIRT659461	hsa-miR-7111-5p	HITS-CLIP	23313552
MIRT659460	hsa-miR-4525	HITS-CLIP	23313552
MIRT659459	hsa-miR-5010-5p	HITS-CLIP	23313552
MIRT695550	hsa-miR-6888-3p	HITS-CLIP	23313552
MIRT659458	hsa-miR-1275	HITS-CLIP	23313552
MIRT659457	hsa-miR-4665-5p	HITS-CLIP	23313552
MIRT659456	hsa-miR-7109-5p	HITS-CLIP	23313552
MIRT659455	hsa-miR-6751-5p	HITS-CLIP	23313552
MIRT659454	hsa-miR-6803-5p	HITS-CLIP	23313552
MIRT695549	hsa-miR-6510-3p	HITS-CLIP	23313552
MIRT688749	hsa-miR-548m	HITS-CLIP	23313552
MIRT675447	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT628331	hsa-miR-512-5p	HITS-CLIP	23824327
MIRT628330	hsa-miR-510-5p	HITS-CLIP	23824327
MIRT628329	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT628328	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT628327	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT628326	hsa-miR-940	HITS-CLIP	23824327
MIRT628325	hsa-miR-3929	HITS-CLIP	23824327
MIRT628324	hsa-miR-4419b	HITS-CLIP	23824327
MIRT628323	hsa-miR-4478	HITS-CLIP	23824327
MIRT628322	hsa-miR-5690	HITS-CLIP	23824327
MIRT628321	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT628320	hsa-miR-4459	HITS-CLIP	23824327
MIRT628319	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT628318	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT628317	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT628316	hsa-miR-1827	HITS-CLIP	23824327
MIRT628315	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT628314	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT628313	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT628312	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT628311	hsa-miR-1273e	HITS-CLIP	23824327
MIRT628310	hsa-miR-665	HITS-CLIP	23824327
MIRT659471	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT659470	hsa-miR-4453	HITS-CLIP	23824327
MIRT659469	hsa-miR-4538	HITS-CLIP	23824327
MIRT659468	hsa-miR-4267	HITS-CLIP	23824327
MIRT659467	hsa-miR-1292-3p	HITS-CLIP	23824327
MIRT659466	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT659465	hsa-miR-625-5p	HITS-CLIP	23824327
MIRT659464	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT659463	hsa-miR-5698	HITS-CLIP	23824327
MIRT659462	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT659461	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT659460	hsa-miR-4525	HITS-CLIP	23824327
MIRT659459	hsa-miR-5010-5p	HITS-CLIP	23824327
MIRT659458	hsa-miR-1275	HITS-CLIP	23824327
MIRT659457	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT659456	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT659455	hsa-miR-6751-5p	HITS-CLIP	23824327
MIRT659454	hsa-miR-6803-5p	HITS-CLIP	23824327
MIRT628331	hsa-miR-512-5p	HITS-CLIP	23824327
MIRT628330	hsa-miR-510-5p	HITS-CLIP	23824327
MIRT628329	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT628328	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT628327	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT628326	hsa-miR-940	HITS-CLIP	23824327
MIRT628325	hsa-miR-3929	HITS-CLIP	23824327
MIRT628324	hsa-miR-4419b	HITS-CLIP	23824327
MIRT628323	hsa-miR-4478	HITS-CLIP	23824327
MIRT628322	hsa-miR-5690	HITS-CLIP	23824327
MIRT628321	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT628320	hsa-miR-4459	HITS-CLIP	23824327
MIRT628319	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT628318	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT628317	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT628316	hsa-miR-1827	HITS-CLIP	23824327
MIRT628315	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT628314	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT628313	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT628312	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT628311	hsa-miR-1273e	HITS-CLIP	23824327
MIRT628310	hsa-miR-665	HITS-CLIP	23824327
MIRT531134	hsa-miR-200b-3p	PAR-CLIP	22012620
MIRT531133	hsa-miR-200c-3p	PAR-CLIP	22012620
MIRT531132	hsa-miR-429	PAR-CLIP	22012620
MIRT531131	hsa-miR-193a-3p	PAR-CLIP	22012620
MIRT531130	hsa-miR-193b-3p	PAR-CLIP	22012620
MIRT531129	hsa-miR-892b	PAR-CLIP	22012620
MIRT531128	hsa-miR-101-5p	PAR-CLIP	22012620
MIRT531127	hsa-miR-3200-5p	PAR-CLIP	22012620
MIRT531126	hsa-miR-6715a-3p	PAR-CLIP	22012620
MIRT531125	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT531124	hsa-miR-3128	PAR-CLIP	22012620
MIRT531123	hsa-miR-4470	PAR-CLIP	22012620
MIRT628319	hsa-miR-4433a-3p	PAR-CLIP	27292025
MIRT628320	hsa-miR-4459	PAR-CLIP	27292025
MIRT531128	hsa-miR-101-5p	HITS-CLIP	27418678
MIRT531128	hsa-miR-101-5p	HITS-CLIP	27418678
MIRT531128	hsa-miR-101-5p	HITS-CLIP	27418678
MIRT531127	hsa-miR-3200-5p	HITS-CLIP	27418678
MIRT531127	hsa-miR-3200-5p	HITS-CLIP	27418678
MIRT531127	hsa-miR-3200-5p	HITS-CLIP	27418678
MIRT724068	hsa-miR-3606-3p	HITS-CLIP	19536157
MIRT724067	hsa-miR-513a-3p	HITS-CLIP	19536157
MIRT724066	hsa-miR-513c-3p	HITS-CLIP	19536157
MIRT724065	hsa-miR-595	HITS-CLIP	19536157
MIRT724064	hsa-miR-5009-3p	HITS-CLIP	19536157
MIRT724063	hsa-miR-3124-3p	HITS-CLIP	19536157
MIRT724062	hsa-miR-299-5p	HITS-CLIP	19536157
MIRT724061	hsa-miR-3685	HITS-CLIP	19536157
MIRT724060	hsa-miR-384	HITS-CLIP	19536157
MIRT695563	hsa-miR-4797-5p	HITS-CLIP	23313552
MIRT695562	hsa-miR-3664-5p	HITS-CLIP	23313552
MIRT695561	hsa-miR-5586-3p	HITS-CLIP	23313552
MIRT659470	hsa-miR-4453	HITS-CLIP	23313552
MIRT659469	hsa-miR-4538	HITS-CLIP	23313552
MIRT695560	hsa-miR-3613-3p	HITS-CLIP	23313552
MIRT695559	hsa-miR-759	HITS-CLIP	23313552
MIRT695558	hsa-miR-371b-5p	HITS-CLIP	23313552
MIRT695557	hsa-miR-373-5p	HITS-CLIP	23313552
MIRT695556	hsa-miR-616-5p	HITS-CLIP	23313552
MIRT695555	hsa-miR-371a-5p	HITS-CLIP	23313552
MIRT695554	hsa-miR-372-5p	HITS-CLIP	23313552
MIRT695553	hsa-miR-3120-5p	HITS-CLIP	23313552
MIRT695552	hsa-miR-4522	HITS-CLIP	23313552
MIRT695551	hsa-miR-873-3p	HITS-CLIP	23313552
MIRT659465	hsa-miR-625-5p	HITS-CLIP	23313552
MIRT659464	hsa-miR-4723-5p	HITS-CLIP	23313552
MIRT659463	hsa-miR-5698	HITS-CLIP	23313552
MIRT659462	hsa-miR-6870-5p	HITS-CLIP	23313552
MIRT659461	hsa-miR-7111-5p	HITS-CLIP	23313552
MIRT659460	hsa-miR-4525	HITS-CLIP	23313552
MIRT659459	hsa-miR-5010-5p	HITS-CLIP	23313552
MIRT695550	hsa-miR-6888-3p	HITS-CLIP	23313552
MIRT659458	hsa-miR-1275	HITS-CLIP	23313552
MIRT659457	hsa-miR-4665-5p	HITS-CLIP	23313552
MIRT659456	hsa-miR-7109-5p	HITS-CLIP	23313552
MIRT659455	hsa-miR-6751-5p	HITS-CLIP	23313552
MIRT659454	hsa-miR-6803-5p	HITS-CLIP	23313552
MIRT695549	hsa-miR-6510-3p	HITS-CLIP	23313552
MIRT688749	hsa-miR-548m	HITS-CLIP	23313552
MIRT675447	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT628331	hsa-miR-512-5p	HITS-CLIP	23824327
MIRT628330	hsa-miR-510-5p	HITS-CLIP	23824327
MIRT628329	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT628328	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT628327	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT628326	hsa-miR-940	HITS-CLIP	23824327
MIRT628325	hsa-miR-3929	HITS-CLIP	23824327
MIRT628324	hsa-miR-4419b	HITS-CLIP	23824327
MIRT628323	hsa-miR-4478	HITS-CLIP	23824327
MIRT628322	hsa-miR-5690	HITS-CLIP	23824327
MIRT628321	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT628320	hsa-miR-4459	HITS-CLIP	23824327
MIRT628319	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT628318	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT628317	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT628316	hsa-miR-1827	HITS-CLIP	23824327
MIRT628315	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT628314	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT628313	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT628312	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT628311	hsa-miR-1273e	HITS-CLIP	23824327
MIRT628310	hsa-miR-665	HITS-CLIP	23824327
MIRT659471	hsa-miR-508-5p	HITS-CLIP	23824327
MIRT659470	hsa-miR-4453	HITS-CLIP	23824327
MIRT659469	hsa-miR-4538	HITS-CLIP	23824327
MIRT659468	hsa-miR-4267	HITS-CLIP	23824327
MIRT659467	hsa-miR-1292-3p	HITS-CLIP	23824327
MIRT659466	hsa-miR-766-3p	HITS-CLIP	23824327
MIRT659465	hsa-miR-625-5p	HITS-CLIP	23824327
MIRT659464	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT659463	hsa-miR-5698	HITS-CLIP	23824327
MIRT659462	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT659461	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT659460	hsa-miR-4525	HITS-CLIP	23824327
MIRT659459	hsa-miR-5010-5p	HITS-CLIP	23824327
MIRT659458	hsa-miR-1275	HITS-CLIP	23824327
MIRT659457	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT659456	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT659455	hsa-miR-6751-5p	HITS-CLIP	23824327
MIRT659454	hsa-miR-6803-5p	HITS-CLIP	23824327
MIRT628331	hsa-miR-512-5p	HITS-CLIP	23824327
MIRT628330	hsa-miR-510-5p	HITS-CLIP	23824327
MIRT628329	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT628328	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT628327	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT628326	hsa-miR-940	HITS-CLIP	23824327
MIRT628325	hsa-miR-3929	HITS-CLIP	23824327
MIRT628324	hsa-miR-4419b	HITS-CLIP	23824327
MIRT628323	hsa-miR-4478	HITS-CLIP	23824327
MIRT628322	hsa-miR-5690	HITS-CLIP	23824327
MIRT628321	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT628320	hsa-miR-4459	HITS-CLIP	23824327
MIRT628319	hsa-miR-4433a-3p	HITS-CLIP	23824327
MIRT628318	hsa-miR-3664-3p	HITS-CLIP	23824327
MIRT628317	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT628316	hsa-miR-1827	HITS-CLIP	23824327
MIRT628315	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT628314	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT628313	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT628312	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT628311	hsa-miR-1273e	HITS-CLIP	23824327
MIRT628310	hsa-miR-665	HITS-CLIP	23824327
MIRT531134	hsa-miR-200b-3p	PAR-CLIP	22012620
MIRT531133	hsa-miR-200c-3p	PAR-CLIP	22012620
MIRT531132	hsa-miR-429	PAR-CLIP	22012620
MIRT531131	hsa-miR-193a-3p	PAR-CLIP	22012620
MIRT531130	hsa-miR-193b-3p	PAR-CLIP	22012620
MIRT531129	hsa-miR-892b	PAR-CLIP	22012620
MIRT531128	hsa-miR-101-5p	PAR-CLIP	22012620
MIRT531127	hsa-miR-3200-5p	PAR-CLIP	22012620
MIRT531126	hsa-miR-6715a-3p	PAR-CLIP	22012620
MIRT531125	hsa-miR-4766-5p	PAR-CLIP	22012620
MIRT531124	hsa-miR-3128	PAR-CLIP	22012620
MIRT531123	hsa-miR-4470	PAR-CLIP	22012620
MIRT897660	hsa-miR-1224-5p	CLIP-seq
MIRT897661	hsa-miR-1253	CLIP-seq
MIRT897662	hsa-miR-1273f	CLIP-seq
MIRT897663	hsa-miR-1292	CLIP-seq
MIRT897664	hsa-miR-1294	CLIP-seq
MIRT897665	hsa-miR-1343	CLIP-seq
MIRT897666	hsa-miR-154	CLIP-seq
MIRT897667	hsa-miR-1587	CLIP-seq
MIRT897668	hsa-miR-2116	CLIP-seq
MIRT897669	hsa-miR-219-1-3p	CLIP-seq
MIRT897670	hsa-miR-22	CLIP-seq
MIRT897671	hsa-miR-2467-3p	CLIP-seq
MIRT897672	hsa-miR-296-5p	CLIP-seq
MIRT897673	hsa-miR-3065-5p	CLIP-seq
MIRT897674	hsa-miR-3115	CLIP-seq
MIRT897675	hsa-miR-3132	CLIP-seq
MIRT897676	hsa-miR-3150b-3p	CLIP-seq
MIRT897677	hsa-miR-3154	CLIP-seq
MIRT897678	hsa-miR-3179	CLIP-seq
MIRT897679	hsa-miR-3184	CLIP-seq
MIRT897680	hsa-miR-339-5p	CLIP-seq
MIRT897681	hsa-miR-34a	CLIP-seq
MIRT897682	hsa-miR-34c-5p	CLIP-seq
MIRT897683	hsa-miR-3682-5p	CLIP-seq
MIRT897684	hsa-miR-3936	CLIP-seq
MIRT897685	hsa-miR-423-5p	CLIP-seq
MIRT897686	hsa-miR-4251	CLIP-seq
MIRT897687	hsa-miR-4260	CLIP-seq
MIRT897688	hsa-miR-4261	CLIP-seq
MIRT897689	hsa-miR-4271	CLIP-seq
MIRT897690	hsa-miR-4283	CLIP-seq
MIRT897691	hsa-miR-4300	CLIP-seq
MIRT897692	hsa-miR-4303	CLIP-seq
MIRT897693	hsa-miR-4304	CLIP-seq
MIRT897694	hsa-miR-4316	CLIP-seq
MIRT897695	hsa-miR-4421	CLIP-seq
MIRT897696	hsa-miR-4451	CLIP-seq
MIRT897697	hsa-miR-4471	CLIP-seq
MIRT897698	hsa-miR-4489	CLIP-seq
MIRT897699	hsa-miR-4492	CLIP-seq
MIRT897700	hsa-miR-4498	CLIP-seq
MIRT897701	hsa-miR-449a	CLIP-seq
MIRT897702	hsa-miR-449b	CLIP-seq
MIRT897703	hsa-miR-4524	CLIP-seq
MIRT897704	hsa-miR-4646-5p	CLIP-seq
MIRT897705	hsa-miR-4656	CLIP-seq
MIRT897706	hsa-miR-4675	CLIP-seq
MIRT897707	hsa-miR-4677-3p	CLIP-seq
MIRT897708	hsa-miR-4677-5p	CLIP-seq
MIRT897709	hsa-miR-4689	CLIP-seq
MIRT897710	hsa-miR-4690-5p	CLIP-seq
MIRT897711	hsa-miR-4725-3p	CLIP-seq
MIRT897712	hsa-miR-4741	CLIP-seq
MIRT897713	hsa-miR-4742-5p	CLIP-seq
MIRT897714	hsa-miR-4747-5p	CLIP-seq
MIRT897715	hsa-miR-4751	CLIP-seq
MIRT897716	hsa-miR-4759	CLIP-seq
MIRT897717	hsa-miR-4769-3p	CLIP-seq
MIRT897718	hsa-miR-4778-3p	CLIP-seq
MIRT897719	hsa-miR-4784	CLIP-seq
MIRT897720	hsa-miR-516a-3p	CLIP-seq
MIRT897721	hsa-miR-571	CLIP-seq
MIRT897722	hsa-miR-622	CLIP-seq
MIRT897723	hsa-miR-657	CLIP-seq
MIRT897724	hsa-miR-762	CLIP-seq
MIRT897725	hsa-miR-920	CLIP-seq
MIRT897674	hsa-miR-3115	CLIP-seq
MIRT1966201	hsa-miR-346	CLIP-seq
MIRT1966202	hsa-miR-4288	CLIP-seq
MIRT1966203	hsa-miR-4781-3p	CLIP-seq
MIRT897720	hsa-miR-516a-3p	CLIP-seq
MIRT1966204	hsa-miR-632	CLIP-seq
MIRT1966205	hsa-miR-654-3p	CLIP-seq
MIRT2201978	hsa-miR-1236	CLIP-seq
MIRT2201979	hsa-miR-1288	CLIP-seq
MIRT2201980	hsa-miR-1324	CLIP-seq
MIRT2201981	hsa-miR-217	CLIP-seq
MIRT2201982	hsa-miR-2467-5p	CLIP-seq
MIRT897674	hsa-miR-3115	CLIP-seq
MIRT2201983	hsa-miR-3126-3p	CLIP-seq
MIRT2201984	hsa-miR-3127-3p	CLIP-seq
MIRT897676	hsa-miR-3150b-3p	CLIP-seq
MIRT2201985	hsa-miR-3155	CLIP-seq
MIRT2201986	hsa-miR-3155b	CLIP-seq
MIRT2201987	hsa-miR-3188	CLIP-seq
MIRT2201988	hsa-miR-3192	CLIP-seq
MIRT2201989	hsa-miR-3199	CLIP-seq
MIRT2201990	hsa-miR-345	CLIP-seq
MIRT1966201	hsa-miR-346	CLIP-seq
MIRT2201991	hsa-miR-3975	CLIP-seq
MIRT2201992	hsa-miR-4264	CLIP-seq
MIRT1966202	hsa-miR-4288	CLIP-seq
MIRT897692	hsa-miR-4303	CLIP-seq
MIRT2201993	hsa-miR-4314	CLIP-seq
MIRT2201994	hsa-miR-4446-3p	CLIP-seq
MIRT2201995	hsa-miR-4645-5p	CLIP-seq
MIRT897704	hsa-miR-4646-5p	CLIP-seq
MIRT897705	hsa-miR-4656	CLIP-seq
MIRT2201996	hsa-miR-4673	CLIP-seq
MIRT2201997	hsa-miR-4682	CLIP-seq
MIRT897709	hsa-miR-4689	CLIP-seq
MIRT2201998	hsa-miR-4691-5p	CLIP-seq
MIRT2201999	hsa-miR-4695-3p	CLIP-seq
MIRT897713	hsa-miR-4742-5p	CLIP-seq
MIRT1966203	hsa-miR-4781-3p	CLIP-seq
MIRT897719	hsa-miR-4784	CLIP-seq
MIRT2202000	hsa-miR-484	CLIP-seq
MIRT897720	hsa-miR-516a-3p	CLIP-seq
MIRT2202001	hsa-miR-548g	CLIP-seq
MIRT2202002	hsa-miR-590-3p	CLIP-seq
MIRT897722	hsa-miR-622	CLIP-seq
MIRT1966204	hsa-miR-632	CLIP-seq
MIRT1966205	hsa-miR-654-3p	CLIP-seq
MIRT2202003	hsa-miR-767-3p	CLIP-seq
MIRT2505048	hsa-miR-141	CLIP-seq
MIRT2505049	hsa-miR-200a	CLIP-seq
MIRT897676	hsa-miR-3150b-3p	CLIP-seq
MIRT2505050	hsa-miR-342-5p	CLIP-seq
MIRT2505051	hsa-miR-3928	CLIP-seq
MIRT2505052	hsa-miR-4651	CLIP-seq
MIRT2505053	hsa-miR-4664-5p	CLIP-seq
MIRT897709	hsa-miR-4689	CLIP-seq
MIRT2505054	hsa-miR-4710	CLIP-seq
MIRT897719	hsa-miR-4784	CLIP-seq
MIRT2505055	hsa-miR-608	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003674	Function	Molecular_function	ND
GO:0005515	Function	Protein binding	IPI	25416956, 31522117
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005758	Component	Mitochondrial intermembrane space	IDA	31522117
GO:0016887	Function	ATPase activity	IBA	21873635
GO:0034605	Process	Cellular response to heat	IBA	21873635
GO:0034605	Process	Cellular response to heat	IDA	2745427
GO:0039529	Process	RIG-I signaling pathway	IDA	31522117
GO:0140374	Process	Antiviral innate immune response	IDA	31522117

Other IDs

• MIM: 616254
• HGNC: 30664
• e!Ensembl: ENSG00000162129

Protein

• UniProt ID: Q9H078
• Protein name: Mitochondrial disaggregase (EC 3.6.1.-) (Suppressor of potassium transport defect 3) [Cleaved into: Mitochondrial disaggregase, cleaved form]
• Protein function: Functions as a regulatory ATPase and participates in secretion/protein trafficking process. Has ATP-dependent protein disaggregase activity and is required to maintain the solubility of key mitochondrial proteins (PubMed:32573439, PubMed:3411584
• PDB: 7TTR, 7TTS, 7US2, 7XBK, 7XC5, 8DEH, 8FDS
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF12796	Ank_2	111 → 197	Ankyrin repeats (3 copies)	Repeat
  PF13857	Ank_5	249 → 306		Repeat
  PF07724	AAA_2	372 → 565	AAA domain (Cdc48 subfamily)	Domain
  PF10431	ClpB_D2-small	572 → 651	C-terminal, D2-small domain, of ClpB protein	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed (at protein level) (PubMed:25597511). Expressed in fetal, as well as in adult tissues, with highest levels in adult brain, including thalamus, hippocampus, occipital cortex and parietal cortex. Low expression in granul
• Sequence:

  MLGSLVLRRKALAPRLLLRLLRSPTLRGHGGASGRNVTTGSLGEPQWLRVATGGRPGTSP
  ALFSGRGAATGGRQGGRFDTKCLAAATWGRLPGPEETLPGQDSWNGVPSRAGLGMCALAA
  ALVVHCYSKSPSNKDAALLEAARANNMQEVSRLLSEGADVNAKHRLGWTALMVAAINRNN
  SVVQVLLAAGADPNLGDDFSSVYKTAKEQGIHSLEDGGQDGASRHITNQWTSALEFRRWL
  GLPAGVLITREDDFNNRLNNRASFKGCTALHYAVLADDYRTVKELLDGGANPLQRNEMGH
  TPLDYAREGEVMKLLRTSEAKYQEKQRKREAEERRRFPLEQRLKEHIIGQESAIATVGAA
  IRRKENGWYDEEHPLVFLFLGSSGIGKTELAKQTAKYMHKDAKKGFIRLDMSEFQERHEV
  AKFIGSPPGYVGHEEGGQLTKKLKQCPNAVVLFDEVDKAHPDVLTIMLQLFDEGRLTDGK
  GKTIDCKDAIFIMTSNVASDEIAQHALQLRQEALEMSRNRIAENLGDVQISDKITISKNF
  KENVIRPILKAHFRRDEFLGRINEIVYFLPFCHSELIQLVNKELNFWAKRAKQRHNITLL
  WDREVADVLVDGYNVHYGARSIKHEVERRVVNQLAAAYEQDLLPGGCTLRITVEDSDKQL
  LKSPELPSPQAEKRLPKLRLEIIDKDSKTRRLDIRAPLHPEKVCNTI

• Sequence length: 707

Pathways

KEGG:

Longevity regulating pathway - multiple species

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Cardiomyopathy	Cardiomyopathies	rs267607003, rs267607002, rs267607004, rs63750743, rs121908333, rs121908334, rs104894655, rs121434420, rs121434421, rs193922674, rs111517471, rs121908987, rs193922384, rs121909374, rs121909377, rs2856655, rs587776700, rs387906397, rs137854607, rs28935197, rs199473684, rs121964858, rs74315379, rs74315380, rs104894724, rs104894727, rs104894728, rs104894729, rs104894730, rs121917760, rs267607125, rs104894503, rs267607155, rs267607156, rs121918597, rs121918600, rs28933979, rs121918070, rs76992529, rs111033559, rs111033560, rs104894368, rs104894369, rs104894370, rs121913624, rs3218713, rs121913625, rs121913626, rs121913627, rs121913628, rs121913629, rs121913630, rs121913631, rs121913632, rs3218714, rs121913637, rs121913638, rs121913641, rs121913642, rs121913651, rs267606911, rs267606908, rs730880850, rs61046466, rs57520892, rs28933091, rs28933092, rs28933093, rs121913008, rs121913003, rs121912996, rs121912997, rs193922680, rs387906875, rs199474703, rs199476315, rs199476316, rs199476317, rs199476321, rs199476311, rs193922683, rs193922668, rs386134243, rs267607578, rs36211723, rs193922390, rs193922672, rs193922697, rs387907267, rs45546039, rs387907218, rs397515870, rs397515893, rs397515894, rs397515903, rs397515905, rs375882485, rs397515907, rs397515912, rs397515916, rs397515925, rs397515926, rs397515934, rs397515937, rs397515943, rs397515944, rs397515947, rs397515954, rs112738974, rs111729952, rs397515960, rs397515963, rs397515973, rs397515974, rs397515977, rs376395543, rs397515979, rs397515982, rs397515990, rs397515991, rs397515992, rs397516005, rs113358486, rs397516006, rs397516007, rs397516008, rs373746463, rs397516019, rs397516023, rs397516029, rs397516031, rs397516037, rs397516040, rs397516042, rs397516044, rs397516049, rs397516057, rs397516059, rs397516068, rs397516070, rs397516072, rs397516073, rs397516074, rs397516076, rs397516077, rs397516080, rs397516082, rs397516083, rs397516088, rs397516089, rs397516103, rs397516123, rs397516127, rs371898076, rs397516132, rs397516142, rs3218716, rs397516154, rs397516161, rs397516165, rs397516170, rs397516178, rs397516179, rs397516187, rs397516201, rs397516202, rs145213771, rs397516207, rs397516209, rs397516212, rs397516248, rs397516252, rs397516254, rs397516258, rs397516260, rs45516091, rs397516264, rs397516269, rs397516347, rs397516349, rs397516352, rs397516353, rs397516355, rs397516356, rs397516357, rs397516364, rs397516370, rs397516371, rs397516373, rs397516386, rs397516406, rs397516454, rs397516456, rs397516461, rs397516463, rs397516464, rs45525839, rs397516471, rs45578238, rs111377893, rs397516607, rs62636495, rs397516784, rs397516881, rs397516913, rs397516915, rs397516927, rs397516940, rs397516943, rs397516945, rs397516955, rs397516956, rs397516973, rs397516986, rs397516989, rs372827156, rs397516992, rs397516993, rs397516994, rs397516997, rs397517003, rs397517008, rs397517010, rs397517012, rs397517021, rs397517065, rs397517547, rs397517576, rs397517580, rs397517584, rs397517586, rs397517587, rs397517589, rs397517601, rs397517620, rs397517624, rs397517626, rs397517628, rs72646831, rs397517633, rs397517643, rs72646846, rs397517664, rs397517679, rs397517689, rs397517695, rs397517696, rs397517698, rs397517721, rs397517735, rs397517741, rs397517749, rs397517750, rs397517758, rs397517776, rs397517787, rs397517830, rs397517887, rs397517888, rs397517889, rs58013325, rs397517895, rs56984562, rs267607646, rs58917027, rs267607594, rs397517904, rs61195471, rs60682848, rs267607573, rs397517908, rs58978449, rs397517909, rs267607593, rs397517911, rs56816490, rs397517915, rs267607554, rs397514742, rs886041395, rs397515482, rs267607490, rs58999456, rs267607555, rs61672878, rs267607618, rs267607577, rs57730570, rs267607582, rs267607581, rs61444459, rs59270054, rs61661343, rs267607570, rs59026483, rs267607571, rs59332535, rs199473161, rs398123262, rs869320740, rs606231324, rs587782927, rs201754030, rs58389804, rs587782958, rs587782961, rs587782962, rs587782986, rs138049878, rs376897125, rs368765949, rs111569862, rs727504247, rs727503537, rs727504535, rs727504550, rs727504679, rs727503546, rs730880365, rs727504646, rs727505014, rs727505288, rs727503557, rs727503559, rs730880343, rs727503615, rs727504825, rs727503565, rs727504655, rs727505352, rs727504466, rs727504531, rs727503567, rs371678190, rs727503586, rs727505319, rs727503547, rs727505076, rs727505224, rs727503552, rs727504856, rs727504782, rs727504660, rs557312035, rs727505284, rs727504851, rs727504589, rs727504499, rs727504843, rs727504452, rs727503697, rs150974575, rs727504498, rs727503598, rs727503602, rs727503607, rs727504801, rs727504738, rs727505115, rs727505283, rs727505109, rs727504271, rs727504321, rs727504289, rs727503172, rs727503180, rs727503182, rs727504265, rs727504334, rs727503192, rs397515932, rs727504287, rs200411226, rs727503204, rs727504269, rs367947846, rs730880335, rs727502897, rs727503166, rs111683277, rs727503195, rs727503203, rs727503212, rs727503738, rs727504381, rs727504356, rs727503261, rs727504238, rs148808089, rs45544633, rs727503246, rs397516171, rs727503253, rs202141173, rs727504310, rs727503258, rs727503260, rs727504320, rs727504240, rs727503263, rs727503269, rs727503278, rs727504432, rs727504243, rs727504285, rs727503499, rs727503504, rs727504242, rs727504379, rs727504389, rs727504275, rs727504557, rs727502994, rs727504184, rs730880336, rs730880362, rs730880199, rs730880246, rs72648265, rs730880243, rs730880242, rs730880241, rs574660186, rs730880245, rs730880082, rs730880092, rs730880093, rs730880055, rs397515939, rs730881119, rs397516020, rs730880675, rs730880719, rs730880672, rs730880671, rs730880718, rs730880666, rs730880717, rs730880655, rs730880715, rs730880654, rs730880714, rs730880651, rs730880648, rs730880713, rs730880546, rs730880695, rs730880533, rs730880531, rs730880639, rs730880689, rs730880686, rs730880629, rs368121566, rs375607980, rs730880704, rs730880698, rs730880750, rs730880748, rs730880875, rs730880845, rs1565623093, rs786204339, rs786204336, rs786204392, rs786204388, rs786204950, rs786204951, rs794727381, rs760576804, rs112188483, rs794728597, rs794728606, rs794728593, rs59564495, rs190140598, rs794728826, rs794728803, rs794728106, rs149701627, rs1554108152, rs770873593, rs794728124, rs141026028, rs794728094, rs794729098, rs794729116, rs764817683, rs751288871, rs201405287, rs794729137, rs794729133, rs766209297, rs767987619, rs769220833, rs794729120, rs112240298, rs748382770, rs794729365, rs794729301, rs757451467, rs794729359, rs794729354, rs794729353, rs794729285, rs794729284, rs794729338, rs794729332, rs368452607, rs794729278, rs794729325, rs794729324, rs754866489, rs794729265, rs751502842, rs794729320, rs794729380, rs748313513, rs797046064, rs863225113, rs863225106, rs761507504, rs864622224, rs1057515421, rs751039219, rs869025555, rs869025546, rs869025554, rs869025559, rs869025545, rs869025558, rs869025557, rs200797552, rs869025550, rs869025549, rs869025544, rs869025552, rs869025548, rs869025556, rs770029258, rs869025523, rs869025398, rs869025399, rs869025395, rs869025365, rs869025469, rs869025483, rs749838192, rs869312028, rs869312037, rs869312038, rs869312039, rs869312040, rs869312041, rs869312042, rs869312044, rs869312046, rs373040154, rs869312047, rs869312048, rs869312049, rs869312050, rs869312051, rs869312052, rs869312054, rs869312055, rs777602537, rs869312056, rs869312057, rs869312058, rs869312059, rs869312060, rs770038577, rs869312061, rs869312062, rs869312063, rs869312064, rs869312065, rs869312066, rs869312067, rs869312068, rs869312069, rs771562210, rs869312070, rs869312071, rs759231562, rs869312072, rs869312073, rs764243269, rs768345594, rs869312074, rs869312075, rs869312076, rs869312077, rs869312078, rs869312079, rs869312080, rs772121356, rs869312081, rs869312082, rs72648250, rs869312083, rs869312084, rs869312085, rs869312086, rs869312087, rs869312100, rs779129892, rs756367933, rs869312102, rs869312103, rs869312104, rs869312105, rs869312106, rs770767998, rs869312107, rs775186117, rs869312108, rs869312109, rs869312110, rs869312111, rs755261062, rs869312112, rs763824247, rs869312113, rs869312114, rs869312115, rs869312116, rs774604740, rs869312117, rs779996703, rs869312118, rs869312119, rs869312120, rs869312121, rs869312122, rs869312045, rs753948675, rs878854371, rs794728589, rs876657650, rs727503512, rs876658027, rs876657672, rs876657671, rs868494032, rs876657670, rs780512337, rs876657669, rs876657668, rs876657666, rs876657665, rs876657664, rs876657663, rs148894066, rs876657634, rs869248137, rs876657705, rs876657704, rs727503213, rs869025496, rs876657662, rs876657884, rs36211715, rs878855234, rs879255521, rs879255639, rs886038928, rs751746401, rs886039030, rs869038795, rs886039343, rs2069544, rs1114167341, rs1114167340, rs886041322, rs886042331, rs886043718, rs747662439, rs886043924, rs773840992, rs886044536, rs1057517903, rs754354190, rs779650200, rs902082118, rs1057518920, rs1057519457, rs1057523045, rs370072439, rs1064792916, rs1060500495, rs1060500575, rs926741242, rs774763657, rs746877365, rs1060500610, rs1060501484, rs1060501479, rs1064792928, rs1060501443, rs1060499604, rs1064793814, rs1064796347, rs977277400, rs1064793429, rs745811346, rs1064794350, rs1555142963, rs1064793983, rs769665204, rs751261054, rs769139957, rs1131691873, rs1131691655, rs1131691673, rs1464253797, rs1408345511, rs1553603152, rs1554398705, rs1322596650, rs1553539995, rs1553611989, rs749961489, rs1444727212, rs1243301263, rs971618751, rs1553662326, rs1389777522, rs764985774, rs1554108287, rs1554105911, rs1249913357, rs1554108012, rs111806457, rs1402879259, rs748416758, rs794727046, rs1425855043, rs869178171, rs1432810664, rs749465164, rs878898365, rs1419374180, rs770878165, rs1553503113, rs1553691320, rs1553577362, rs1553603456, rs1417036453, rs1553741321, rs1553479603, rs1553607425, rs974671846, rs1420159591, rs745688425, rs1554875409, rs1555144459, rs1555338080, rs1555338574, rs1555148035, rs200889953, rs1401116572, rs1285329277, rs974510652, rs1263987728, rs1555122928, rs992189342, rs1555142971, rs1553261855, rs1553265647, rs1553488049, rs1553644307, rs1553663867, rs1553940122, rs28763965, rs758891557, rs762110595, rs1555436118, rs1555435531, rs565910322, rs376766195, rs1562168768, rs763443331, rs1562169661, rs1370579526, rs1561703922, rs1564773559, rs1559003939, rs1559598775, rs1559415567, rs1559877046, rs776970935, rs553526525, rs1561698362, rs1561694696, rs1561702640, rs730880751, rs1060505018, rs766330686, rs1565631430, rs1565050320, rs876657767, rs1565053085, rs1565053147, rs1557778277, rs1557776329, rs886039136, rs771262904, rs727504314, rs1563000044, rs541612157, rs766265889, rs1558988204, rs1559051231, rs1559262463, rs1559448864, rs1559469421, rs1559556267, rs1559746821, rs1559873786, rs1561323791, rs1561445221, rs1561686893, rs1561698714, rs1561702549, rs1565623439, rs1565623713, rs1565626367, rs1565627110, rs1565627145, rs397515889, rs1565628520, rs774316050, rs1592798444, rs1565590309, rs1566967399, rs1569552936, rs1559712733, rs1561690319, rs1561701721, rs869125101, rs1595843553, rs1576018303, rs746115846, rs777315336, rs1431206462, rs1572358674, rs1477669354, rs1575584918, rs1575614351, rs72648222, rs1575799625, rs1576014673, rs1576147786, rs747469275, rs1581805658, rs1227662860, rs1585169831, rs1592729525, rs762753884, rs1596155145, rs1572358821, rs991187915, rs1575649368, rs1060500562, rs1450218521, rs775256998, rs1572332762, rs1571627006, rs1575253896, rs1575616801, rs1575775337, rs1575948935, rs1574083547, rs1574087037, rs1589632398, rs1585171818, rs1603365762, rs768079285, rs1575663327, rs1575796530, rs1574659116, rs267607001, rs1567093598, rs1572359848, rs1060500505, rs1575512482, rs1575872984, rs1161735211, rs1576141328, rs906494713, rs1576685753, rs1266489077, rs1581813564, rs778808038, rs397516363, rs1596386673, rs1575610911, rs727503266, rs1603377936, rs777702465, rs1708504899, rs2054381012, rs1575285509, rs1695435412, rs1699247877, rs879139686, rs2060187635, rs761380979, rs1464886350, rs1956192035, rs752522753, rs1205836993, rs2095894178
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Developmental delay	Global developmental delay, Gross motor development 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
Ectodermal dysplasia	Ectodermal Dysplasia	rs74315309, rs121908116, rs1558814967, rs121908450, rs121908452, rs121908453, rs797044435, rs121908454, rs121908455, rs121908456, rs797044436, rs797044437, rs137853324, rs137853325, rs137853326, rs137853327, rs137853328, rs137853329, rs1569556603, rs2147483647, rs137853330, rs28933100, rs121913665, rs387907197, rs386134238, rs386134240, rs782540538, rs398122913, rs398122377, rs179363867, rs1565766888, rs747806672, rs879255553, rs886039564, rs886041005, rs766500689, rs886041411, rs782178147, rs1057519508, rs1057524917, rs139455627, rs1060499610, rs1553445945, rs1553448320, rs557166582, rs1569151872, rs1555916009, rs1566591076, rs1566591086, rs1566591082, rs1558814135, rs773885029, rs1590674994, rs1575653629, rs1575647025, rs781890406, rs749688157
Epilepsy	Epilepsy, Generalized	rs113994140, rs28937874, rs1589762127, rs104894166, rs28939075, rs2134001459, rs104894167, rs119488099, rs119488100, rs387906420, rs121917752, rs121918622, rs281865564, rs387907313, rs397514670, rs768241563, rs587776973, rs587776974, rs587776975, rs879255234, rs587776976, rs587776977, rs121917993, rs398123588, rs13306758, rs587777458, rs587777459, rs541024038, rs797044545, rs730882240, rs786205703, rs794726859, rs796053126, rs796053035, rs796053216, rs796052839, rs869025201, rs797044999, rs797044998, rs797045045, rs794726762, rs869312971, rs869312972, rs879255652, rs886037938, rs886037958, rs886037959, rs886037960, rs886037961, rs886037962, rs886037965, rs886037966, rs886039245, rs886039246, rs886039251, rs886039252, rs772872014, rs886039253, rs886039256, rs757511744, rs886039261, rs886039263, rs578185749, rs886039266, rs886039268, rs886039269, rs886039273, rs368820286, rs1057518801, rs1057518688, rs1057519107, rs1057519273, rs752753379, rs767795673, rs1057519424, rs755946598, rs760609867, rs1057521066, rs1057524233, rs1060501488, rs1060501487, rs755127868, rs751533302, rs771373457, rs1475605360, rs1555401942, rs1553567864, rs200661329, rs766667249, rs1556607762, rs1555882921, rs1555882867, rs1555900914, rs1553546836, rs77216276, rs755595256, rs747661902, rs2105890565, rs1021001959, rs1555441032, rs1555439541, rs1556526609, rs1315483224, rs759952667, rs1555885023, rs1553456695, rs1555942720, rs1569083500, rs1559127505, rs1206309859, rs1567139896, rs1567134495, rs1431914212, rs1569166925, rs1569255443, rs1568955379, rs1567152003, rs374158137, rs1567129567, rs1569523728, rs1568991466, rs1569186093, rs1569254004, rs1372605067, rs1569067939, rs1568963062, rs1563959514, rs1569012755, rs1559118914, rs1602338615, rs1596522356, rs1364913665, rs1596522300, rs1596526976, rs1229740428, rs1596385588, rs1596500172, rs1596505517, rs1601925213, rs1601970168, rs1602010382, rs1602903591, rs1603014297, rs1603014708, rs1601875057, rs1601970824, rs1601755632, rs1587393982, rs1592977444, rs1575562076, rs1570998206, rs1588057922, rs1596528731, rs1602349641, rs1587401875, rs2065899210, rs1596526915, rs2093486364, rs2056165149, rs2056100951, rs781482552, rs1899868619, rs1900088045, rs1898675878, rs1898686157, rs1898837245, rs1898844513, rs2082841677, rs2085727988, rs2092933941, rs2091657024, rs1899864955, rs1898844907, rs2083056830, rs2084070588, rs1899713412, rs2082695884, rs1977106116, rs1977105425, rs1443687532	25597511
Epileptic encephalopathy	Encephalopathies	rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625, rs121918626, rs121918629, rs121918632, rs118192218, rs118192219, rs118192222, rs118192226, rs118192228, rs118192234, rs118192236, rs118192235, rs118192242, rs118192185, rs118192188, rs118192246, rs118192186, rs118192194, rs118192199, rs118192201, rs118192202, rs118192203, rs118192204, rs118192205, rs118192206, rs118192208, rs118192215, rs118192216, rs118192239, rs397514458, rs387906686, rs202151337, rs121917957, rs121917929, rs121917927, rs121917966, rs121917941, rs121917964, rs121917943, rs121917965, rs121917918, rs121917963, rs121917911, rs121917912, rs121917986, rs121917987, rs121917913, rs121917945, rs121917996, rs121917975, rs121917919, rs121917993, rs121917915, rs121917995, rs121917976, rs121917994, rs121917926, rs121917951, rs121917952, rs121917980, rs121917921, rs121917935, rs121917936, rs121917984, rs121917937, rs121917985, rs121917938, rs121917928, rs121918753, rs121918781, rs121918782, rs121918784, rs121918734, rs121918788, rs121917969, rs121918775, rs121918786, rs121918796, rs121918745, rs121918740, rs121918741, rs121918789, rs121918742, rs121918791, rs121918811, rs121917922, rs121918744, rs121918778, rs121918767, rs121918779, rs121918770, rs121918783, rs121918773, rs121918793, rs267606051, rs398123585, rs398123588, rs398123593, rs587777164, rs587777219, rs587777310, rs587780446, rs587777492, rs587777495, rs587777577, rs267608501, rs587777721, rs587783192, rs587783200, rs104894745, rs587784453, rs587784454, rs587784438, rs587784440, rs727504136, rs727503974, rs727504140, rs727504173, rs201497300, rs786204967, rs794726739, rs794726845, rs779614747, rs794726726, rs794726763, rs794726754, rs794726760, rs794726759, rs199727342, rs794726800, rs794726752, rs794726825, rs794726809, rs794726696, rs794726699, rs794726705, rs794726784, rs794726779, rs794726821, rs146878122, rs794726816, rs794726744, rs794726854, rs794726710, rs794726733, rs542420576, rs794726772, rs794726842, rs794726718, rs794726761, rs794726697, rs794726775, rs397514459, rs767045134, rs794726766, rs794726742, rs794726730, rs794726778, rs794726736, rs794726773, rs794726790, rs794726826, rs794726753, rs794726799, rs794726844, rs794726782, rs794726798, rs794726824, rs794726827, rs794726803, rs794726711, rs794726762, rs786205598, rs863223345, rs794727128, rs794727337, rs794727361, rs794727444, rs794727740, rs794727792, rs794727970, rs863225068, rs796053181, rs796053130, rs796053048, rs796053086, rs796053103, rs796053043, rs796053085, rs796053035, rs796053031, rs796053029, rs796053022, rs139300715, rs796053014, rs1553522472, rs796053010, rs121917908, rs796053008, rs794726789, rs796053004, rs796053072, rs796052995, rs796053067, rs796052990, rs796052987, rs796052985, rs796053065, rs1553543316, rs796053064, rs796052977, rs796052976, rs796052973, rs796052972, rs781746113, rs796052960, rs796052959, rs796053054, rs1553551312, rs796052953, rs758871507, rs796053350, rs1554776228, rs796053352, rs796053390, rs796053353, rs796053359, rs796053361, rs796053366, rs796053367, rs796053370, rs796053368, rs796053373, rs796053376, rs796053377, rs1554768992, rs796053335, rs796053233, rs796053214, rs796053216, rs796053224, rs796053228, rs796053229, rs796052658, rs796052670, rs796052654, rs796052653, rs796052652, rs773171451, rs1555853593, rs759584387, rs796052650, rs118192233, rs796052657, rs796052644, rs796052645, rs796052641, rs796052640, rs775918190, rs796052636, rs796052626, rs796052623, rs796052621, rs796052620, rs796052618, rs796052617, rs796052663, rs797044983, rs797045013, rs797044878, rs797044951, rs797044873, rs797044938, rs797045969, rs118192212, rs863225037, rs863225036, rs863225030, rs863225031, rs864321707, rs864321712, rs869312684, rs869312920, rs869312939, rs878853250, rs878854263, rs878854262, rs751170778, rs878854974, rs878855236, rs1555794286, rs879255652, rs879255695, rs879255697, rs879255704, rs879255705, rs879255709, rs879255710, rs886039323, rs886039435, rs886039494, rs886039903, rs1135401734, rs1135401733, rs1135401732, rs886042004, rs886041716, rs886041961, rs886041668, rs886041246, rs886041339, rs886041766, rs886041262, rs886041715, rs886042528, rs886042605, rs886063501, rs1555850151, rs1057516123, rs1555853971, rs1057516115, rs1057516106, rs1057516105, rs1057516099, rs1057516098, rs1057516094, rs1057516089, rs1057516086, rs1057516085, rs1057516080, rs1057516079, rs1057516076, rs1057518325, rs1057517862, rs1057517849, rs1057518243, rs1057518258, rs1057517958, rs121917974, rs1057517959, rs796053374, rs1057517919, rs1057518489, rs1057518801, rs1057518816, rs759766243, rs1057518795, rs1057518985, rs1057519000, rs1057519269, rs1057519270, rs1057519452, rs375659415, rs1057519501, rs1057519528, rs1057519526, rs1057519527, rs1057519524, rs796053083, rs1057519529, rs1057519531, rs1057519547, rs1057519548, rs1057519545, rs1057519538, rs1057519539, rs1057519537, rs1057519540, rs1057519549, rs1057519550, rs1057519535, rs1057519536, rs1057519542, rs778291283, rs1057520486, rs794726765, rs750209664, rs121917753, rs1057521746, rs1057523858, rs1057520753, rs1057520413, rs1057521080, rs1057524599, rs778481061, rs768633670, rs796052655, rs1060502190, rs1060502183, rs121918780, rs1060502185, rs1057521537, rs1060502187, rs121918765, rs1060502182, rs121917981, rs1060502188, rs1060502189, rs1060503108, rs1060501724, rs1060501722, rs1060501723, rs1060501012, rs1060504137, rs1060500603, rs1060500602, rs1060499592, rs796053138, rs1064795579, rs1553520298, rs121918805, rs1064795733, rs1064796177, rs1064795735, rs1064794634, rs1064796384, rs1064796213, rs1064793923, rs1064794727, rs1064794533, rs1064795384, rs1555850842, rs1064794001, rs1064796151, rs1064795435, rs1064797284, rs1085307930, rs1085307730, rs1085307916, rs1085307876, rs1085307920, rs1131691773, rs1131691774, rs1131691675, rs1131691775, rs1131691693, rs1131691465, rs1131691830, rs1131691936, rs1057523728, rs1199412903, rs1555228303, rs1555507477, rs1554965669, rs1555499800, rs1553923787, rs922847767, rs368609628, rs1553286282, rs1266877537, rs794726749, rs1553551425, rs1553552390, rs1554778657, rs1555889130, rs1555881741, rs1553520320, rs1553522517, rs796053006, rs1553534296, rs1553541028, rs1553544579, rs1553551385, rs1553520380, rs1553525210, rs1553541473, rs761333438, rs1553520982, rs1553522321, rs1553520318, rs1553540503, rs1553540389, rs1553542199, rs1553543215, rs1553541172, rs1553549483, rs750901301, rs794726743, rs1553545660, rs1553561023, rs1553548096, rs1553552319, rs1553560760, rs1554037381, rs1554776948, rs1554778417, rs1057522982, rs1555219147, rs1555218657, rs1555850590, rs1555869758, rs1555873823, rs1553525325, rs794727813, rs1555228771, rs1553520530, rs1555870346, rs1555955296, rs1553551493, rs1555546796, rs1555870554, rs1555871832, rs77216276, rs1554689320, rs1554777496, rs1555881809, rs1553529461, rs12131800, rs1553517274, rs1555889127, rs1555951141, rs1553590192, rs1553531178, rs1555870470, rs927722314, rs1553523142, rs1041924436, rs1553544559, rs1553544821, rs1553520319, rs1553560677, rs1553521567, rs1553522331, rs1553519872, rs1553529426, rs1553519902, rs1553520029, rs1553545522, rs1553520439, rs146515561, rs1553549461, rs1553549834, rs1553546789, rs1553553614, rs1553560676, rs1553520227, rs1553524865, rs1553525036, rs1553560740, rs1553561016, rs1193718145, rs1554769099, rs936639741, rs1352024223, rs758779535, rs1555870506, rs747376305, rs1555869700, rs1555873656, rs1555873981, rs536000212, rs959316981, rs1554777470, rs1555889108, rs1559144583, rs1569219844, rs1564346538, rs1562159088, rs1559101839, rs1559114303, rs1559140110, rs1559140306, rs1043031572, rs121918756, rs1559199628, rs1559200672, rs796053095, rs1559210063, rs1559225495, rs1553549471, rs1559103294, rs1559105368, rs121918764, rs1559114837, rs1559122124, rs1559127505, rs1559128532, rs1559140855, rs1559149128, rs1559217391, rs1559220874, rs794726695, rs1559249734, rs1553553527, rs1559101585, rs1559110846, rs1559193050, rs1559216338, rs1559231284, rs148442069, rs1559105301, rs1559114202, rs121917954, rs1559195296, rs1553546763, rs1559238432, rs1559884460, rs1559887808, rs1564352002, rs1564349850, rs1564351103, rs1565933795, rs1565886685, rs1555228668, rs587777723, rs1564333757, rs375363057, rs1568932480, rs1568925719, rs770187706, rs1568864658, rs1568899375, rs118192209, rs1568932462, rs1568927747, rs1057518555, rs1559119345, rs1085307520, rs1559200901, rs970867558, rs1568940442, rs775162839, rs1568986619, rs1558308998, rs1553546668, rs1569017015, rs1569017045, rs1569017073, rs1555889090, rs1569017143, rs1569017148, rs1569017205, rs1179351306, rs1569017257, rs1569017337, rs1555889162, rs1568658507, rs1485894376, rs1561139569, rs1574716488, rs1553519865, rs1573946994, rs1573948129, rs121918812, rs1573950349, rs1573952908, rs1573964264, rs1573964628, rs372425457, rs1573984004, rs1574004452, rs1574005235, rs1574006637, rs1574006857, rs1574039742, rs121918801, rs1574051496, rs1574051665, rs1574060250, rs1574060717, rs1574169179, rs1574170908, rs121918774, rs1574192005, rs1574192998, rs1574201591, rs1574216450, rs1574223964, rs1574224274, rs1574225593, rs748267258, rs1553547380, rs1574263819, rs1574265144, rs762927460, rs1574266490, rs1574271827, rs1574302195, rs1574371399, rs1575603683, rs763339068, rs1588313568, rs1589416130, rs1592380672, rs1592148206, rs1592149793, rs1592149906, rs1592162415, rs1592162506, rs1596787821, rs1600755607, rs1600755429, rs1600731888, rs1601573302, rs1601566621, rs1601542702, rs1601542417, rs1600886270, rs1600766500, rs1574370981, rs1573962555, rs1574068971, rs1057524737, rs1574263047, rs1575601202, rs1554777464, rs1589393179, rs1597696047, rs1247507359, rs752927520, rs1473654961, rs1592380834, rs796053036, rs1573953706, rs1573973548, rs1573984110, rs1574007140, rs1574166948, rs745378416, rs1574209023, rs796053094, rs1574264920, rs1600714727, rs755159935, rs1574281711, rs779324355, rs1053767552, rs201894374, rs770456604, rs113094436, rs1578264574, rs1260191836, rs1578265048, rs1578265068, rs1578269200, rs1186496501, rs1578269761, rs756467468, rs1381665298, rs1578270476, rs1578274054, rs769243823, rs200059198, rs749975104, rs1578282133, rs1306655122, rs1600785769, rs1580990072, rs1584399108, rs1057519189, rs1595440453, rs1596872804, rs1597653264, rs1597676610, rs1599719527, rs1600755440, rs1600786071, rs770904422, rs1574525321, rs1840653547, rs749965674, rs1841611651, rs1841766225, rs1852152679, rs1853919580, rs1858669268, rs1941650264, rs1941714576, rs1938725748, rs2037920694, rs2037920791, rs2079949302, rs2079962041, rs2079972258, rs2080188103, rs2080189052, rs1057520773, rs2081071680, rs2081187047, rs2081187692, rs2081358991, rs2081378550, rs1698943949, rs1698602170, rs1698192456, rs1698176171, rs1369404945, rs1698003832, rs1698002491, rs1697999557, rs398123581, rs1697674296, rs1697473667, rs1697277384, rs1697160366, rs1697157422, rs1426666349, rs1697134047, rs1696883051, rs1696628056, rs794726823, rs1696403750, rs897883046, rs1696401617, rs1696356978, rs1696338792, rs1693176153, rs1692577292, rs1240187329, rs1553529527, rs1692166604, rs1691093633, rs1691039670, rs1690583220, rs1690345764, rs1690011364, rs1553521530, rs1553521051, rs1386425283, rs1573952473, rs1689300152, rs1689298888, rs1689285717, rs1689278461, rs1238612161, rs1689271621, rs1253117981, rs1689218857, rs1689211960, rs1689211569, rs1689200375, rs1689142827, rs1684673339, rs1684663586, rs1699367901, rs1553553462, rs1699149959, rs1698958802, rs746440689, rs1692586274, rs1697876590, rs727504142, rs1689985819, rs794726764, rs1704944478, rs1178244073, rs1840967817, rs2080693649, rs1938214529, rs2080696874, rs2081190512, rs1691073965, rs1689488709, rs1691048388, rs1692581621, rs1692870117, rs121918785, rs749539763, rs1842042825, rs2081190344, rs1600789325
Hypothyroidism	Hypothyroidism	rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605
Mental retardation	Moderate intellectual disability, 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
Multiple congenital anomalies	Multiple congenital anomalies	rs1057517732	25597511, 25595726, 25597510, 25650066
Hypotonia	Neonatal Hypotonia	rs141138948, rs397517172, rs869312824, rs1583169151
Neutropenia	Neutropenia	rs879253882
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573
Renal insufficiency	Renal Insufficiency	rs1596536873

Unknown
Disease term	Disease name	Evidence	References	Source
3-Methylglutaconic aciduria	3-methylglutaconic aciduria, type VIIB			GenCC
Leigh Syndrome	Leigh syndrome			GenCC

Associations from Text Mining
Disease Name	Relationship Type	References
3 Methylglutaconic Aciduria	Associate	32573439, 34115842, 35247700, 36074910, 37041140
Cataract	Associate	34115842, 36074910
Death	Associate	37041140
Genetic Diseases Inborn	Associate	36074910
Heredodegenerative Disorders Nervous System	Associate	34115842
Immunologic Deficiency Syndromes	Associate	35499078
Infertility	Associate	36074910
Leukemia Myeloid Acute	Stimulate	35247700
Mitochondrial Diseases	Associate	32573439, 34115842
Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport	Associate	35499078
Myopathy with Giant Abnormal Mitochondria	Associate	36745679
Neoplasms	Associate	35247700
Neurologic Manifestations	Associate	36074910, 36745679
Neutropenia	Associate	34115842, 36074910, 36745679
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	34115842, 35247700, 35499078
Parkinson Disease	Associate	32573439
Primary Ovarian Insufficiency	Associate	36074910