PNPT1 (polyribonucleotide nucleotidyltransferase 1)

Gene

• Entrez ID: 87178
• Gene name: Polyribonucleotide nucleotidyltransferase 1
• Gene symbol: PNPT1
• Synonyms (NCBI Gene): COXPD13, DFNB70, OLD35, PNPASE, SCA25, old-35
• Disease Acronyms (UniProt): COXPD13, DFNB70, SCA25
• Chromosome: 2
• Chromosome location: 2p16.1
• Summary: The protein encoded by this gene belongs to the evolutionary conserved polynucleotide phosphorylase family comprised of phosphate dependent 3`-to-5` exoribonucleases implicated in RNA processing and degradation. This enzyme is predominantly localized in t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs34928857	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, non coding transcript variant
rs143712760	C>A	Uncertain-significance, likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs146571352	C>T	Likely-pathogenic, not-provided, uncertain-significance	Missense variant, coding sequence variant, non coding transcript variant
rs151166046	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs200088200	G>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs374698153	G>C	Likely-pathogenic, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs397514598	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs397514599	T>C	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs746356243	C>G,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs752550279	C>A,G	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs767310806	T>C,G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs772153760	C>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs774425075	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs778100619	G>A,C,T	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant, stop gained
rs863225449	C>T	Pathogenic	Splice acceptor variant
rs879255657	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1064793593	GT>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1365308037	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1553493871	A>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1559094461	C>G	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1559114055	A>G	Pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, non coding transcript variant, missense variant
rs1572834021	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020848	hsa-miR-155-5p	Proteomics	18668040
MIRT706636	hsa-miR-6838-3p	HITS-CLIP	21572407
MIRT706635	hsa-miR-4781-3p	HITS-CLIP	21572407
MIRT706634	hsa-miR-370-3p	HITS-CLIP	21572407
MIRT706633	hsa-miR-6893-3p	HITS-CLIP	21572407
MIRT706632	hsa-miR-31-3p	HITS-CLIP	21572407
MIRT706631	hsa-miR-3135b	HITS-CLIP	21572407
MIRT706629	hsa-miR-3652	HITS-CLIP	21572407
MIRT706630	hsa-miR-4430	HITS-CLIP	21572407
MIRT706628	hsa-miR-6501-5p	HITS-CLIP	21572407
MIRT706627	hsa-miR-4423-5p	HITS-CLIP	21572407
MIRT706626	hsa-miR-744-3p	HITS-CLIP	21572407
MIRT625290	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625289	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT625288	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT625287	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT625286	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT625285	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625284	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625283	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT625282	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625281	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625280	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625279	hsa-miR-4284	HITS-CLIP	23824327
MIRT625278	hsa-miR-7977	HITS-CLIP	23824327
MIRT654948	hsa-miR-652-3p	HITS-CLIP	23824327
MIRT625290	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT654947	hsa-miR-3155a	HITS-CLIP	23824327
MIRT654946	hsa-miR-3155b	HITS-CLIP	23824327
MIRT654945	hsa-miR-484	HITS-CLIP	23824327
MIRT625289	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT625288	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT625287	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT625286	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT625285	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625284	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625283	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT625282	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625281	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625280	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT636935	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT625279	hsa-miR-4284	HITS-CLIP	23824327
MIRT625278	hsa-miR-7977	HITS-CLIP	23824327
MIRT625290	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625285	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625284	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625283	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT625282	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625281	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625280	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT636935	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT625279	hsa-miR-4284	HITS-CLIP	23824327
MIRT625278	hsa-miR-7977	HITS-CLIP	23824327
MIRT625290	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625289	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT625288	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT625287	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT625286	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT625285	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625284	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625283	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT625282	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625281	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625280	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625279	hsa-miR-4284	HITS-CLIP	23824327
MIRT625278	hsa-miR-7977	HITS-CLIP	23824327
MIRT625290	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625289	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT625288	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT625287	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT625286	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT625285	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625284	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625283	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT625282	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625281	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625280	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625279	hsa-miR-4284	HITS-CLIP	23824327
MIRT625278	hsa-miR-7977	HITS-CLIP	23824327
MIRT625290	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625289	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT625288	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT625287	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT625286	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT625285	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625284	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625283	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT625282	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625281	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625280	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625279	hsa-miR-4284	HITS-CLIP	23824327
MIRT625278	hsa-miR-7977	HITS-CLIP	23824327
MIRT706636	hsa-miR-6838-3p	HITS-CLIP	21572407
MIRT706635	hsa-miR-4781-3p	HITS-CLIP	21572407
MIRT706634	hsa-miR-370-3p	HITS-CLIP	21572407
MIRT706633	hsa-miR-6893-3p	HITS-CLIP	21572407
MIRT706632	hsa-miR-31-3p	HITS-CLIP	21572407
MIRT706631	hsa-miR-3135b	HITS-CLIP	21572407
MIRT706629	hsa-miR-3652	HITS-CLIP	21572407
MIRT706630	hsa-miR-4430	HITS-CLIP	21572407
MIRT706628	hsa-miR-6501-5p	HITS-CLIP	21572407
MIRT706627	hsa-miR-4423-5p	HITS-CLIP	21572407
MIRT706626	hsa-miR-744-3p	HITS-CLIP	21572407
MIRT625290	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625289	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT625288	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT625287	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT625286	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT625285	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625284	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625283	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT625282	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625281	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625280	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625279	hsa-miR-4284	HITS-CLIP	23824327
MIRT625278	hsa-miR-7977	HITS-CLIP	23824327
MIRT654948	hsa-miR-652-3p	HITS-CLIP	23824327
MIRT625290	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT654947	hsa-miR-3155a	HITS-CLIP	23824327
MIRT654946	hsa-miR-3155b	HITS-CLIP	23824327
MIRT654945	hsa-miR-484	HITS-CLIP	23824327
MIRT625289	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT625288	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT625287	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT625286	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT625285	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625284	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625283	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT625282	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625281	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625280	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT636935	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT625279	hsa-miR-4284	HITS-CLIP	23824327
MIRT625278	hsa-miR-7977	HITS-CLIP	23824327
MIRT625290	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625285	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625284	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625283	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT625282	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625281	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625280	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT636935	hsa-miR-6722-5p	HITS-CLIP	23824327
MIRT625279	hsa-miR-4284	HITS-CLIP	23824327
MIRT625278	hsa-miR-7977	HITS-CLIP	23824327
MIRT625290	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625289	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT625288	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT625287	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT625286	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT625285	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625284	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625283	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT625282	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625281	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625280	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625279	hsa-miR-4284	HITS-CLIP	23824327
MIRT625278	hsa-miR-7977	HITS-CLIP	23824327
MIRT625290	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625289	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT625288	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT625287	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT625286	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT625285	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625284	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625283	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT625282	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625281	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625280	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625279	hsa-miR-4284	HITS-CLIP	23824327
MIRT625278	hsa-miR-7977	HITS-CLIP	23824327
MIRT625290	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT625289	hsa-miR-6840-3p	HITS-CLIP	23824327
MIRT625288	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT625287	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT625286	hsa-miR-4726-3p	HITS-CLIP	23824327
MIRT625285	hsa-miR-6741-3p	HITS-CLIP	23824327
MIRT625284	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT625283	hsa-miR-136-5p	HITS-CLIP	23824327
MIRT625282	hsa-miR-1307-3p	HITS-CLIP	23824327
MIRT625281	hsa-miR-4638-5p	HITS-CLIP	23824327
MIRT625280	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT625279	hsa-miR-4284	HITS-CLIP	23824327
MIRT625278	hsa-miR-7977	HITS-CLIP	23824327
MIRT1245788	hsa-miR-101	CLIP-seq
MIRT1245789	hsa-miR-1183	CLIP-seq
MIRT1245790	hsa-miR-1200	CLIP-seq
MIRT1245791	hsa-miR-122	CLIP-seq
MIRT1245792	hsa-miR-125a-3p	CLIP-seq
MIRT1245793	hsa-miR-1273f	CLIP-seq
MIRT1245794	hsa-miR-1299	CLIP-seq
MIRT1245795	hsa-miR-130a	CLIP-seq
MIRT1245796	hsa-miR-130b	CLIP-seq
MIRT1245797	hsa-miR-1343	CLIP-seq
MIRT1245798	hsa-miR-144	CLIP-seq
MIRT1245799	hsa-miR-1915	CLIP-seq
MIRT1245800	hsa-miR-197	CLIP-seq
MIRT1245801	hsa-miR-1976	CLIP-seq
MIRT1245802	hsa-miR-205	CLIP-seq
MIRT1245803	hsa-miR-2054	CLIP-seq
MIRT1245804	hsa-miR-299-5p	CLIP-seq
MIRT1245805	hsa-miR-300	CLIP-seq
MIRT1245806	hsa-miR-301a	CLIP-seq
MIRT1245807	hsa-miR-301b	CLIP-seq
MIRT1245808	hsa-miR-3147	CLIP-seq
MIRT1245809	hsa-miR-3149	CLIP-seq
MIRT1245810	hsa-miR-3170	CLIP-seq
MIRT1245811	hsa-miR-3187-3p	CLIP-seq
MIRT1245812	hsa-miR-3194-3p	CLIP-seq
MIRT1245813	hsa-miR-3199	CLIP-seq
MIRT1245814	hsa-miR-331-5p	CLIP-seq
MIRT1245815	hsa-miR-335	CLIP-seq
MIRT1245816	hsa-miR-3616-5p	CLIP-seq
MIRT1245817	hsa-miR-3622a-5p	CLIP-seq
MIRT1245818	hsa-miR-3647-5p	CLIP-seq
MIRT1245819	hsa-miR-3662	CLIP-seq
MIRT1245820	hsa-miR-3663-5p	CLIP-seq
MIRT1245821	hsa-miR-3666	CLIP-seq
MIRT1245822	hsa-miR-370	CLIP-seq
MIRT1245823	hsa-miR-381	CLIP-seq
MIRT1245824	hsa-miR-382	CLIP-seq
MIRT1245825	hsa-miR-3934	CLIP-seq
MIRT1245826	hsa-miR-3940-5p	CLIP-seq
MIRT1245827	hsa-miR-410	CLIP-seq
MIRT1245828	hsa-miR-411	CLIP-seq
MIRT1245829	hsa-miR-4269	CLIP-seq
MIRT1245830	hsa-miR-4279	CLIP-seq
MIRT1245831	hsa-miR-4294	CLIP-seq
MIRT1245832	hsa-miR-4295	CLIP-seq
MIRT1245833	hsa-miR-431	CLIP-seq
MIRT1245834	hsa-miR-4324	CLIP-seq
MIRT1245835	hsa-miR-433	CLIP-seq
MIRT1245836	hsa-miR-4425	CLIP-seq
MIRT1245837	hsa-miR-4426	CLIP-seq
MIRT1245838	hsa-miR-4435	CLIP-seq
MIRT1245839	hsa-miR-4438	CLIP-seq
MIRT1245840	hsa-miR-4507	CLIP-seq
MIRT1245841	hsa-miR-454	CLIP-seq
MIRT1245842	hsa-miR-4647	CLIP-seq
MIRT1245843	hsa-miR-4652-3p	CLIP-seq
MIRT1245844	hsa-miR-4662a-5p	CLIP-seq
MIRT1245845	hsa-miR-4662b	CLIP-seq
MIRT1245846	hsa-miR-4666-3p	CLIP-seq
MIRT1245847	hsa-miR-4676-5p	CLIP-seq
MIRT1245848	hsa-miR-4701-5p	CLIP-seq
MIRT1245849	hsa-miR-4715-3p	CLIP-seq
MIRT1245850	hsa-miR-4716-5p	CLIP-seq
MIRT1245851	hsa-miR-4722-3p	CLIP-seq
MIRT1245852	hsa-miR-4724-3p	CLIP-seq
MIRT1245853	hsa-miR-4735-5p	CLIP-seq
MIRT1245854	hsa-miR-4755-3p	CLIP-seq
MIRT1245855	hsa-miR-4763-5p	CLIP-seq
MIRT1245856	hsa-miR-4775	CLIP-seq
MIRT1245857	hsa-miR-4782-5p	CLIP-seq
MIRT1245858	hsa-miR-4795-5p	CLIP-seq
MIRT1245859	hsa-miR-489	CLIP-seq
MIRT1245860	hsa-miR-493	CLIP-seq
MIRT1245861	hsa-miR-5095	CLIP-seq
MIRT1245862	hsa-miR-5096	CLIP-seq
MIRT1245863	hsa-miR-513a-3p	CLIP-seq
MIRT1245864	hsa-miR-516b	CLIP-seq
MIRT1245865	hsa-miR-520d-5p	CLIP-seq
MIRT1245866	hsa-miR-524-5p	CLIP-seq
MIRT1245867	hsa-miR-544b	CLIP-seq
MIRT1245868	hsa-miR-548ag	CLIP-seq
MIRT1245869	hsa-miR-548ai	CLIP-seq
MIRT1245870	hsa-miR-548g	CLIP-seq
MIRT1245871	hsa-miR-548s	CLIP-seq
MIRT1245872	hsa-miR-550a	CLIP-seq
MIRT1245873	hsa-miR-552	CLIP-seq
MIRT1245874	hsa-miR-561	CLIP-seq
MIRT1245875	hsa-miR-573	CLIP-seq
MIRT1245876	hsa-miR-575	CLIP-seq
MIRT1245877	hsa-miR-577	CLIP-seq
MIRT1245878	hsa-miR-588	CLIP-seq
MIRT1245879	hsa-miR-590-3p	CLIP-seq
MIRT1245880	hsa-miR-652	CLIP-seq
MIRT1245881	hsa-miR-656	CLIP-seq
MIRT1245882	hsa-miR-659	CLIP-seq
MIRT1245883	hsa-miR-668	CLIP-seq
MIRT1245884	hsa-miR-764	CLIP-seq
MIRT1245885	hsa-miR-9	CLIP-seq
MIRT1245886	hsa-miR-924	CLIP-seq
MIRT1245884	hsa-miR-764	CLIP-seq
MIRT2072659	hsa-miR-106a	CLIP-seq
MIRT2072660	hsa-miR-106b	CLIP-seq
MIRT1245790	hsa-miR-1200	CLIP-seq
MIRT2072661	hsa-miR-1234	CLIP-seq
MIRT1245792	hsa-miR-125a-3p	CLIP-seq
MIRT1245793	hsa-miR-1273f	CLIP-seq
MIRT2072662	hsa-miR-1287	CLIP-seq
MIRT2072663	hsa-miR-129-5p	CLIP-seq
MIRT2072664	hsa-miR-1307	CLIP-seq
MIRT1245797	hsa-miR-1343	CLIP-seq
MIRT2072665	hsa-miR-150	CLIP-seq
MIRT2072666	hsa-miR-17	CLIP-seq
MIRT1245799	hsa-miR-1915	CLIP-seq
MIRT1245800	hsa-miR-197	CLIP-seq
MIRT1245801	hsa-miR-1976	CLIP-seq
MIRT2072667	hsa-miR-20a	CLIP-seq
MIRT2072668	hsa-miR-20b	CLIP-seq
MIRT2072669	hsa-miR-302a	CLIP-seq
MIRT2072670	hsa-miR-302b	CLIP-seq
MIRT2072671	hsa-miR-302c	CLIP-seq
MIRT2072672	hsa-miR-302d	CLIP-seq
MIRT2072673	hsa-miR-302e	CLIP-seq
MIRT1245809	hsa-miR-3149	CLIP-seq
MIRT2072674	hsa-miR-3159	CLIP-seq
MIRT1245810	hsa-miR-3170	CLIP-seq
MIRT1245811	hsa-miR-3187-3p	CLIP-seq
MIRT1245815	hsa-miR-335	CLIP-seq
MIRT1245816	hsa-miR-3616-5p	CLIP-seq
MIRT1245818	hsa-miR-3647-5p	CLIP-seq
MIRT1245820	hsa-miR-3663-5p	CLIP-seq
MIRT2072675	hsa-miR-372	CLIP-seq
MIRT2072676	hsa-miR-373	CLIP-seq
MIRT1245825	hsa-miR-3934	CLIP-seq
MIRT1245826	hsa-miR-3940-5p	CLIP-seq
MIRT1245828	hsa-miR-411	CLIP-seq
MIRT2072677	hsa-miR-4258	CLIP-seq
MIRT1245830	hsa-miR-4279	CLIP-seq
MIRT1245834	hsa-miR-4324	CLIP-seq
MIRT2072678	hsa-miR-4325	CLIP-seq
MIRT1245838	hsa-miR-4435	CLIP-seq
MIRT1245839	hsa-miR-4438	CLIP-seq
MIRT2072679	hsa-miR-4476	CLIP-seq
MIRT1245840	hsa-miR-4507	CLIP-seq
MIRT2072680	hsa-miR-450b-5p	CLIP-seq
MIRT2072681	hsa-miR-4695-3p	CLIP-seq
MIRT1245848	hsa-miR-4701-5p	CLIP-seq
MIRT2072682	hsa-miR-4707-3p	CLIP-seq
MIRT1245849	hsa-miR-4715-3p	CLIP-seq
MIRT1245850	hsa-miR-4716-5p	CLIP-seq
MIRT1245851	hsa-miR-4722-3p	CLIP-seq
MIRT1245853	hsa-miR-4735-5p	CLIP-seq
MIRT2072683	hsa-miR-4740-3p	CLIP-seq
MIRT1245854	hsa-miR-4755-3p	CLIP-seq
MIRT1245856	hsa-miR-4775	CLIP-seq
MIRT2072684	hsa-miR-4787-3p	CLIP-seq
MIRT1245858	hsa-miR-4795-5p	CLIP-seq
MIRT2072685	hsa-miR-499-3p	CLIP-seq
MIRT2072686	hsa-miR-499a-3p	CLIP-seq
MIRT2072687	hsa-miR-507	CLIP-seq
MIRT1245861	hsa-miR-5095	CLIP-seq
MIRT1245862	hsa-miR-5096	CLIP-seq
MIRT2072688	hsa-miR-512-3p	CLIP-seq
MIRT2072689	hsa-miR-519d	CLIP-seq
MIRT2072690	hsa-miR-520a-3p	CLIP-seq
MIRT2072691	hsa-miR-520b	CLIP-seq
MIRT2072692	hsa-miR-520c-3p	CLIP-seq
MIRT2072693	hsa-miR-520d-3p	CLIP-seq
MIRT2072694	hsa-miR-520e	CLIP-seq
MIRT2072695	hsa-miR-520g	CLIP-seq
MIRT2072696	hsa-miR-520h	CLIP-seq
MIRT1245867	hsa-miR-544b	CLIP-seq
MIRT1245871	hsa-miR-548s	CLIP-seq
MIRT1245873	hsa-miR-552	CLIP-seq
MIRT2072697	hsa-miR-557	CLIP-seq
MIRT1245875	hsa-miR-573	CLIP-seq
MIRT1245878	hsa-miR-588	CLIP-seq
MIRT1245879	hsa-miR-590-3p	CLIP-seq
MIRT1245884	hsa-miR-764	CLIP-seq
MIRT2072698	hsa-miR-93	CLIP-seq
MIRT1245788	hsa-miR-101	CLIP-seq
MIRT1245790	hsa-miR-1200	CLIP-seq
MIRT1245791	hsa-miR-122	CLIP-seq
MIRT2299862	hsa-miR-1254	CLIP-seq
MIRT1245793	hsa-miR-1273f	CLIP-seq
MIRT2072663	hsa-miR-129-5p	CLIP-seq
MIRT2072664	hsa-miR-1307	CLIP-seq
MIRT1245795	hsa-miR-130a	CLIP-seq
MIRT1245796	hsa-miR-130b	CLIP-seq
MIRT1245797	hsa-miR-1343	CLIP-seq
MIRT1245798	hsa-miR-144	CLIP-seq
MIRT2072665	hsa-miR-150	CLIP-seq
MIRT1245799	hsa-miR-1915	CLIP-seq
MIRT1245800	hsa-miR-197	CLIP-seq
MIRT1245801	hsa-miR-1976	CLIP-seq
MIRT1245806	hsa-miR-301a	CLIP-seq
MIRT1245807	hsa-miR-301b	CLIP-seq
MIRT2299863	hsa-miR-3116	CLIP-seq
MIRT1245808	hsa-miR-3147	CLIP-seq
MIRT1245809	hsa-miR-3149	CLIP-seq
MIRT2299864	hsa-miR-3155	CLIP-seq
MIRT2072674	hsa-miR-3159	CLIP-seq
MIRT1245810	hsa-miR-3170	CLIP-seq
MIRT1245811	hsa-miR-3187-3p	CLIP-seq
MIRT1245812	hsa-miR-3194-3p	CLIP-seq
MIRT1245816	hsa-miR-3616-5p	CLIP-seq
MIRT1245818	hsa-miR-3647-5p	CLIP-seq
MIRT1245820	hsa-miR-3663-5p	CLIP-seq
MIRT1245821	hsa-miR-3666	CLIP-seq
MIRT1245825	hsa-miR-3934	CLIP-seq
MIRT1245826	hsa-miR-3940-5p	CLIP-seq
MIRT1245828	hsa-miR-411	CLIP-seq
MIRT2072677	hsa-miR-4258	CLIP-seq
MIRT1245830	hsa-miR-4279	CLIP-seq
MIRT1245831	hsa-miR-4294	CLIP-seq
MIRT1245832	hsa-miR-4295	CLIP-seq
MIRT1245833	hsa-miR-431	CLIP-seq
MIRT1245834	hsa-miR-4324	CLIP-seq
MIRT2072678	hsa-miR-4325	CLIP-seq
MIRT1245836	hsa-miR-4425	CLIP-seq
MIRT1245837	hsa-miR-4426	CLIP-seq
MIRT1245838	hsa-miR-4435	CLIP-seq
MIRT1245839	hsa-miR-4438	CLIP-seq
MIRT1245840	hsa-miR-4507	CLIP-seq
MIRT2299865	hsa-miR-450b-3p	CLIP-seq
MIRT1245841	hsa-miR-454	CLIP-seq
MIRT2299866	hsa-miR-4643	CLIP-seq
MIRT1245842	hsa-miR-4647	CLIP-seq
MIRT2299867	hsa-miR-466	CLIP-seq
MIRT1245845	hsa-miR-4662b	CLIP-seq
MIRT2072681	hsa-miR-4695-3p	CLIP-seq
MIRT1245848	hsa-miR-4701-5p	CLIP-seq
MIRT2072682	hsa-miR-4707-3p	CLIP-seq
MIRT1245849	hsa-miR-4715-3p	CLIP-seq
MIRT1245850	hsa-miR-4716-5p	CLIP-seq
MIRT1245851	hsa-miR-4722-3p	CLIP-seq
MIRT2299868	hsa-miR-4727-5p	CLIP-seq
MIRT1245853	hsa-miR-4735-5p	CLIP-seq
MIRT2072683	hsa-miR-4740-3p	CLIP-seq
MIRT1245854	hsa-miR-4755-3p	CLIP-seq
MIRT1245856	hsa-miR-4775	CLIP-seq
MIRT2072684	hsa-miR-4787-3p	CLIP-seq
MIRT2299869	hsa-miR-4789-3p	CLIP-seq
MIRT1245858	hsa-miR-4795-5p	CLIP-seq
MIRT2072687	hsa-miR-507	CLIP-seq
MIRT1245861	hsa-miR-5095	CLIP-seq
MIRT1245862	hsa-miR-5096	CLIP-seq
MIRT2072695	hsa-miR-520g	CLIP-seq
MIRT2072696	hsa-miR-520h	CLIP-seq
MIRT1245867	hsa-miR-544b	CLIP-seq
MIRT1245871	hsa-miR-548s	CLIP-seq
MIRT1245873	hsa-miR-552	CLIP-seq
MIRT2072697	hsa-miR-557	CLIP-seq
MIRT1245875	hsa-miR-573	CLIP-seq
MIRT1245878	hsa-miR-588	CLIP-seq
MIRT1245879	hsa-miR-590-3p	CLIP-seq
MIRT1245880	hsa-miR-652	CLIP-seq
MIRT2299870	hsa-miR-661	CLIP-seq
MIRT2299871	hsa-miR-769-3p	CLIP-seq
MIRT1245886	hsa-miR-924	CLIP-seq
MIRT1245788	hsa-miR-101	CLIP-seq
MIRT1245791	hsa-miR-122	CLIP-seq
MIRT2072664	hsa-miR-1307	CLIP-seq
MIRT1245795	hsa-miR-130a	CLIP-seq
MIRT1245796	hsa-miR-130b	CLIP-seq
MIRT1245797	hsa-miR-1343	CLIP-seq
MIRT1245798	hsa-miR-144	CLIP-seq
MIRT1245806	hsa-miR-301a	CLIP-seq
MIRT1245807	hsa-miR-301b	CLIP-seq
MIRT2392778	hsa-miR-3160-3p	CLIP-seq
MIRT2392779	hsa-miR-3182	CLIP-seq
MIRT1245816	hsa-miR-3616-5p	CLIP-seq
MIRT1245818	hsa-miR-3647-5p	CLIP-seq
MIRT1245821	hsa-miR-3666	CLIP-seq
MIRT1245826	hsa-miR-3940-5p	CLIP-seq
MIRT1245832	hsa-miR-4295	CLIP-seq
MIRT2392780	hsa-miR-4487	CLIP-seq
MIRT1245840	hsa-miR-4507	CLIP-seq
MIRT1245841	hsa-miR-454	CLIP-seq
MIRT1245858	hsa-miR-4795-5p	CLIP-seq
MIRT2392781	hsa-miR-558	CLIP-seq
MIRT1245875	hsa-miR-573	CLIP-seq
MIRT1245880	hsa-miR-652	CLIP-seq
MIRT1245790	hsa-miR-1200	CLIP-seq
MIRT1245793	hsa-miR-1273f	CLIP-seq
MIRT1245799	hsa-miR-1915	CLIP-seq
MIRT1245801	hsa-miR-1976	CLIP-seq
MIRT1245809	hsa-miR-3149	CLIP-seq
MIRT1245810	hsa-miR-3170	CLIP-seq
MIRT1245815	hsa-miR-335	CLIP-seq
MIRT1245828	hsa-miR-411	CLIP-seq
MIRT2072677	hsa-miR-4258	CLIP-seq
MIRT1245830	hsa-miR-4279	CLIP-seq
MIRT1245834	hsa-miR-4324	CLIP-seq
MIRT1245839	hsa-miR-4438	CLIP-seq
MIRT2072682	hsa-miR-4707-3p	CLIP-seq
MIRT1245849	hsa-miR-4715-3p	CLIP-seq
MIRT1245851	hsa-miR-4722-3p	CLIP-seq
MIRT1245853	hsa-miR-4735-5p	CLIP-seq
MIRT1245856	hsa-miR-4775	CLIP-seq
MIRT1245861	hsa-miR-5095	CLIP-seq
MIRT1245867	hsa-miR-544b	CLIP-seq
MIRT1245879	hsa-miR-590-3p	CLIP-seq
MIRT1245793	hsa-miR-1273f	CLIP-seq
MIRT1245799	hsa-miR-1915	CLIP-seq
MIRT1245801	hsa-miR-1976	CLIP-seq
MIRT1245809	hsa-miR-3149	CLIP-seq
MIRT1245810	hsa-miR-3170	CLIP-seq
MIRT1245815	hsa-miR-335	CLIP-seq
MIRT1245828	hsa-miR-411	CLIP-seq
MIRT2072677	hsa-miR-4258	CLIP-seq
MIRT1245830	hsa-miR-4279	CLIP-seq
MIRT2072682	hsa-miR-4707-3p	CLIP-seq
MIRT1245849	hsa-miR-4715-3p	CLIP-seq
MIRT1245851	hsa-miR-4722-3p	CLIP-seq
MIRT1245853	hsa-miR-4735-5p	CLIP-seq
MIRT1245856	hsa-miR-4775	CLIP-seq
MIRT1245879	hsa-miR-590-3p	CLIP-seq
MIRT1245789	hsa-miR-1183	CLIP-seq
MIRT1245790	hsa-miR-1200	CLIP-seq
MIRT1245791	hsa-miR-122	CLIP-seq
MIRT1245793	hsa-miR-1273f	CLIP-seq
MIRT2072663	hsa-miR-129-5p	CLIP-seq
MIRT2072664	hsa-miR-1307	CLIP-seq
MIRT1245795	hsa-miR-130a	CLIP-seq
MIRT1245796	hsa-miR-130b	CLIP-seq
MIRT1245799	hsa-miR-1915	CLIP-seq
MIRT1245800	hsa-miR-197	CLIP-seq
MIRT1245801	hsa-miR-1976	CLIP-seq
MIRT1245805	hsa-miR-300	CLIP-seq
MIRT1245806	hsa-miR-301a	CLIP-seq
MIRT1245807	hsa-miR-301b	CLIP-seq
MIRT1245809	hsa-miR-3149	CLIP-seq
MIRT1245810	hsa-miR-3170	CLIP-seq
MIRT1245811	hsa-miR-3187-3p	CLIP-seq
MIRT1245815	hsa-miR-335	CLIP-seq
MIRT1245821	hsa-miR-3666	CLIP-seq
MIRT2596573	hsa-miR-369-3p	CLIP-seq
MIRT2596574	hsa-miR-374a	CLIP-seq
MIRT2596575	hsa-miR-374b	CLIP-seq
MIRT1245823	hsa-miR-381	CLIP-seq
MIRT1245828	hsa-miR-411	CLIP-seq
MIRT2596576	hsa-miR-425	CLIP-seq
MIRT2072677	hsa-miR-4258	CLIP-seq
MIRT1245830	hsa-miR-4279	CLIP-seq
MIRT1245832	hsa-miR-4295	CLIP-seq
MIRT1245834	hsa-miR-4324	CLIP-seq
MIRT2072678	hsa-miR-4325	CLIP-seq
MIRT1245837	hsa-miR-4426	CLIP-seq
MIRT1245838	hsa-miR-4435	CLIP-seq
MIRT1245839	hsa-miR-4438	CLIP-seq
MIRT2072679	hsa-miR-4476	CLIP-seq
MIRT2072680	hsa-miR-450b-5p	CLIP-seq
MIRT1245841	hsa-miR-454	CLIP-seq
MIRT1245842	hsa-miR-4647	CLIP-seq
MIRT1245845	hsa-miR-4662b	CLIP-seq
MIRT1245846	hsa-miR-4666-3p	CLIP-seq
MIRT1245848	hsa-miR-4701-5p	CLIP-seq
MIRT2072682	hsa-miR-4707-3p	CLIP-seq
MIRT1245849	hsa-miR-4715-3p	CLIP-seq
MIRT1245850	hsa-miR-4716-5p	CLIP-seq
MIRT1245851	hsa-miR-4722-3p	CLIP-seq
MIRT1245853	hsa-miR-4735-5p	CLIP-seq
MIRT1245854	hsa-miR-4755-3p	CLIP-seq
MIRT1245855	hsa-miR-4763-5p	CLIP-seq
MIRT1245856	hsa-miR-4775	CLIP-seq
MIRT2072684	hsa-miR-4787-3p	CLIP-seq
MIRT2596577	hsa-miR-4803	CLIP-seq
MIRT2072687	hsa-miR-507	CLIP-seq
MIRT1245861	hsa-miR-5095	CLIP-seq
MIRT1245862	hsa-miR-5096	CLIP-seq
MIRT1245865	hsa-miR-520d-5p	CLIP-seq
MIRT1245866	hsa-miR-524-5p	CLIP-seq
MIRT1245867	hsa-miR-544b	CLIP-seq
MIRT1245871	hsa-miR-548s	CLIP-seq
MIRT1245872	hsa-miR-550a	CLIP-seq
MIRT2072697	hsa-miR-557	CLIP-seq
MIRT1245878	hsa-miR-588	CLIP-seq
MIRT1245879	hsa-miR-590-3p	CLIP-seq
MIRT1245880	hsa-miR-652	CLIP-seq
MIRT1245883	hsa-miR-668	CLIP-seq
MIRT1245789	hsa-miR-1183	CLIP-seq
MIRT1245790	hsa-miR-1200	CLIP-seq
MIRT1245791	hsa-miR-122	CLIP-seq
MIRT1245793	hsa-miR-1273f	CLIP-seq
MIRT2072664	hsa-miR-1307	CLIP-seq
MIRT1245795	hsa-miR-130a	CLIP-seq
MIRT1245796	hsa-miR-130b	CLIP-seq
MIRT1245799	hsa-miR-1915	CLIP-seq
MIRT1245800	hsa-miR-197	CLIP-seq
MIRT1245801	hsa-miR-1976	CLIP-seq
MIRT1245805	hsa-miR-300	CLIP-seq
MIRT1245806	hsa-miR-301a	CLIP-seq
MIRT1245807	hsa-miR-301b	CLIP-seq
MIRT1245809	hsa-miR-3149	CLIP-seq
MIRT1245810	hsa-miR-3170	CLIP-seq
MIRT1245811	hsa-miR-3187-3p	CLIP-seq
MIRT1245815	hsa-miR-335	CLIP-seq
MIRT1245821	hsa-miR-3666	CLIP-seq
MIRT1245823	hsa-miR-381	CLIP-seq
MIRT1245828	hsa-miR-411	CLIP-seq
MIRT2072677	hsa-miR-4258	CLIP-seq
MIRT1245830	hsa-miR-4279	CLIP-seq
MIRT1245832	hsa-miR-4295	CLIP-seq
MIRT1245834	hsa-miR-4324	CLIP-seq
MIRT1245837	hsa-miR-4426	CLIP-seq
MIRT1245838	hsa-miR-4435	CLIP-seq
MIRT1245839	hsa-miR-4438	CLIP-seq
MIRT2072679	hsa-miR-4476	CLIP-seq
MIRT1245841	hsa-miR-454	CLIP-seq
MIRT1245842	hsa-miR-4647	CLIP-seq
MIRT1245845	hsa-miR-4662b	CLIP-seq
MIRT1245846	hsa-miR-4666-3p	CLIP-seq
MIRT1245848	hsa-miR-4701-5p	CLIP-seq
MIRT2072682	hsa-miR-4707-3p	CLIP-seq
MIRT1245849	hsa-miR-4715-3p	CLIP-seq
MIRT1245850	hsa-miR-4716-5p	CLIP-seq
MIRT1245851	hsa-miR-4722-3p	CLIP-seq
MIRT1245853	hsa-miR-4735-5p	CLIP-seq
MIRT1245854	hsa-miR-4755-3p	CLIP-seq
MIRT1245855	hsa-miR-4763-5p	CLIP-seq
MIRT1245856	hsa-miR-4775	CLIP-seq
MIRT1245861	hsa-miR-5095	CLIP-seq
MIRT1245862	hsa-miR-5096	CLIP-seq
MIRT1245865	hsa-miR-520d-5p	CLIP-seq
MIRT1245866	hsa-miR-524-5p	CLIP-seq
MIRT1245867	hsa-miR-544b	CLIP-seq
MIRT1245871	hsa-miR-548s	CLIP-seq
MIRT1245872	hsa-miR-550a	CLIP-seq
MIRT1245878	hsa-miR-588	CLIP-seq
MIRT1245879	hsa-miR-590-3p	CLIP-seq
MIRT1245880	hsa-miR-652	CLIP-seq
MIRT1245883	hsa-miR-668	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000175	Function	3'-5'-exoribonuclease activity	IBA	21873635
GO:0000175	Function	3'-5'-exoribonuclease activity	IDA	19509288
GO:0000957	Process	Mitochondrial RNA catabolic process	IDA	18501193
GO:0000958	Process	Mitochondrial mRNA catabolic process	IBA	21873635
GO:0000958	Process	Mitochondrial mRNA catabolic process	IDA	20691904
GO:0000962	Process	Positive regulation of mitochondrial RNA catabolic process	IDA	19509288, 29967381
GO:0000964	Process	Mitochondrial RNA 5'-end processing	IMP	18083837
GO:0000965	Process	Mitochondrial RNA 3'-end processing	IBA	21873635
GO:0000965	Process	Mitochondrial RNA 3'-end processing	IMP	18083837
GO:0003723	Function	RNA binding	HDA	22681889
GO:0004654	Function	Polyribonucleotide nucleotidyltransferase activity	IBA	21873635
GO:0004654	Function	Polyribonucleotide nucleotidyltransferase activity	IDA	18083836
GO:0005515	Function	Protein binding	IPI	16934922, 29967381, 32296183
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	16055741
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA	16055741, 19864255, 20691904
GO:0005758	Component	Mitochondrial intermembrane space	IDA	16966381
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IBA	21873635
GO:0005829	Component	Cytosol	IDA
GO:0006401	Process	RNA catabolic process	IBA	21873635
GO:0006401	Process	RNA catabolic process	IDA	18083836
GO:0006402	Process	MRNA catabolic process	IDA	12721301, 16055741
GO:0008266	Function	Poly(U) RNA binding	IDA	18083836
GO:0034046	Function	Poly(G) binding	IDA	18083836
GO:0034599	Process	Cellular response to oxidative stress	IDA	18501193
GO:0035198	Function	MiRNA binding	IDA	20547861
GO:0035458	Process	Cellular response to interferon-beta	IDA	16410805
GO:0035927	Process	RNA import into mitochondrion	IDA	20691904
GO:0035928	Process	RRNA import into mitochondrion	IDA	20691904
GO:0042788	Component	Polysomal ribosome	IEA
GO:0043457	Process	Regulation of cellular respiration	ISS
GO:0043631	Process	RNA polyadenylation	IDA	18083836
GO:0045025	Component	Mitochondrial degradosome	IDA	19509288, 29967381
GO:0045926	Process	Negative regulation of growth	IDA	12721301
GO:0051260	Process	Protein homooligomerization	IDA	20691904
GO:0051591	Process	Response to cAMP	IEA
GO:0060416	Process	Response to growth hormone	IEA
GO:0061014	Process	Positive regulation of mRNA catabolic process	IMP	16410805
GO:0070207	Process	Protein homotrimerization	IDA	19509288, 20691904
GO:0070584	Process	Mitochondrion morphogenesis	ISS
GO:0071042	Process	Nuclear polyadenylation-dependent mRNA catabolic process	IDA	16934922
GO:0071850	Process	Mitotic cell cycle arrest	IDA	12721301
GO:0090503	Process	RNA phosphodiester bond hydrolysis, exonucleolytic	IEA
GO:0097222	Process	Mitochondrial mRNA polyadenylation	IMP	18083837
GO:0097421	Process	Liver regeneration	IEA
GO:2000627	Process	Positive regulation of miRNA catabolic process	IDA	20547861
GO:2000772	Process	Regulation of cellular senescence	IDA	16055741

Other IDs

• MIM: 610316
• HGNC: 23166
• e!Ensembl: ENSG00000138035

Protein

• UniProt ID: Q8TCS8
• Protein name: Polyribonucleotide nucleotidyltransferase 1, mitochondrial (EC 2.7.7.8) (3'-5' RNA exonuclease OLD35) (PNPase old-35) (Polynucleotide phosphorylase 1) (PNPase 1) (Polynucleotide phosphorylase-like protein)
• Protein function: RNA-binding protein implicated in numerous RNA metabolic processes (PubMed:29967381, PubMed:39019044). Catalyzes the phosphorolysis of single-stranded polyribonucleotides processively in the 3'-to-5' direction (PubMed:29967381, PubMed:39019044).
• PDB: 3U1K, 5ZF6, 9KJR, 9KJT
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01138	RNase_PH	52 → 183		Domain
  PF03725	RNase_PH_C	186 → 251		Domain
  PF03726	PNPase	282 → 363	Polyribonucleotide nucleotidyltransferase, RNA binding domain	Domain
  PF01138	RNase_PH	366 → 501		Domain
  PF00013	KH_1	607 → 666	KH domain	Domain
  PF00575	S1	675 → 750	S1 RNA binding domain	Domain

• Sequence:

  MAACRYCCSCLRLRPLSDGPFLLPRRDRALTQLQVRALWSSAGSRAVAVDLGNRKLEISS
  GKLARFADGSAVVQSGDTAVMVTAVSKTKPSPSQFMPLVVDYRQKAAAAGRIPTNYLRRE
  IGTSDKEILTSRIIDRSIRPLFPAGYFYDTQVLCNLLAVDGVNEPDVLAINGASVALSLS
  DIPWNGPVGAVRIGIIDGEYVVNPTRKEMSSSTLNLVVAGAPKSQIVMLEASAENILQQD
  FCHAIKVGVKYTQQIIQGIQQLVKETGVTKRTPQKLFTPSPEIVKYTHKLAMERLYAVFT
  DYEHDKVSRDEAVNKIRLDTEEQLKEKFPEADPYEIIESFNVVAKEVFRSIVLNEYKRCD
  GRDLTSLRNVSCEVDMFKTLHGSALFQRGQTQVLCTVTFDSLESGIKSDQVITAINGIKD
  KNFMLHYEFPPYATNEIGKVTGLNRRELGHGALAEKALYPVIPRDFPFTIRVTSEVLESN
  GSSSMASACGGSLALMDSGVPISSAVAGVAIGLVTKTDPEKGEIEDYRLLTDILGIEDYN
  GDMDFKIAGTNKGITALQADIKLPGIPIKIVMEAIQQASVAKKEILQIMNKTISKPRASR
  KENGPVVETVQVPLSKRAKFVGPGGYNLKKLQAETGVTISQVDEETFSVFAPTPSAMHEA
  RDFITEICKDDQEQQLEFGAVYTATITEIRDTGVMVKLYPNMTAVLLHNTQLDQRKIKHP
  TALGLEVGQEIQVKYFGRDPADGRMRLSRKVLQSPATTVVRTLNDRSSIVMGEPISQSSS
  NSQ

• Sequence length: 783

Pathways

KEGG:

RNA degradation

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
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
Combined oxidative phosphorylation deficiency	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 13, Combined oxidative phosphorylation defect type 13	rs587776508, rs576462794, rs118203917, rs387906327, rs139430866, rs387906962, rs138119149, rs387907061, rs1562800908, rs397515421, rs397514598, rs397514610, rs397514611, rs397514612, rs201431517, rs397514613, rs397514614, rs200286768, rs397515463, rs397515464, rs397515465, rs397515466, rs587777218, rs587777244, rs587777417, rs587777418, rs587777419, rs587777583, rs587777584, rs587777585, rs587777589, rs587777591, rs587777593, rs587777594, rs115079861, rs587777788, rs144972972, rs606231472, rs869320746, rs886037734, rs730880255, rs886037735, rs886037736, rs730882154, rs730882155, rs794726869, rs114638163, rs143712760, rs780383722, rs200105202, rs1554169353, rs751459058, rs775690041, rs863224897, rs863225449, rs869025313, rs869025314, rs869025315, rs781798317, rs754022333, rs869320703, rs869320704, rs771894262, rs764427452, rs879255657, rs778100619, rs759477396, rs1057518742, rs1057518743, rs1057517685, rs1057519299, rs1057523346, rs1057524183, rs1060502161, rs184469579, rs1064794140, rs755122704, rs1064797230, rs202183509, rs1131691396, rs1131692037, rs1161932777, rs144042123, rs777725264, rs563189672, rs763672163, rs746538436, rs1554042187, rs767427194, rs1555532483, rs1394499137, rs1555532484, rs763658299, rs763770476, rs199863563, rs148620369, rs1554147776, rs761385155, rs1555575927, rs1555576642, rs1554169280, rs1407198979, rs1274363168, rs1555726849, rs770871640, rs1555404423, rs924099073, rs775439829, rs1554268077, rs1308121771, rs1047420796, rs1322974029, rs751069628, rs368934219, rs761709212, rs1555342802, rs761334309, rs1554116357, rs536000212, rs565910322, rs376766195, rs1562168768, rs763443331, rs1370579526, rs755068980, rs1567773277, rs761097220, rs780533096, rs746356243, rs1559114055, rs752550279, rs1559094461, rs146988468, rs1561990552, rs1298860043, rs746746116, rs1568293849, rs1559359546, rs1561938413, rs565224393, rs1565216037, rs1035101172, rs1565235204, rs763770414, rs764714439, rs777185638, rs1169927428, rs1229314240, rs1429774361, rs374954001, rs1599560256, rs1582724664, rs1574663066, rs778120270, rs1574675683, rs1365308037, rs1582970514, rs777028011, rs1582957532, rs1170907347, rs773688171, rs1777047446, rs947204455, rs1049082567, rs754537066, rs758094541, rs1689552727, rs2077262520, rs748779965, rs1785349774	26633545, 23084291, 27604308, 25457163, 27759031, 31752325
Deafness	DEAFNESS, AUTOSOMAL RECESSIVE 70, DEAFNESS, AUTOSOMAL RECESSIVE (disorder)	rs267607135, rs387906219, rs387906220, rs387906221, rs387906222, rs606231120, rs267606855, rs121918370, rs137853185, rs137853186, rs137853187, rs137853188, rs587776522, rs587776523, rs200781822, rs118203957, rs111706634, rs118203988, rs1559365985, rs118203989, rs1559371613, rs1559372640, rs1559366000, rs118204026, rs118204027, rs118204028, rs118204029, rs118204030, rs118204031, rs1601632909, rs779841884, rs104893975, rs1581972457, rs1562687726, rs1562687295, rs398122997, rs119103279, rs28940307, rs137852839, rs121918339, rs876661301, rs28942097, rs28941781, rs876657371, rs267607120, rs1567381218, rs193919333, rs1564568849, rs1023746725, rs121908072, rs121908073, rs1169090943, rs121908076, rs786200882, rs786200883, rs1569770998, rs1569726455, rs121908134, rs121908136, rs1569771486, rs1569712066, rs28937893, rs104893883, rs104893882, rs74315205, rs1584317722, rs111033308, rs80338848, rs28939086, rs80338849, rs111033244, rs111033303, rs121908364, rs121908362, rs121908363, rs765884316, rs111033307, rs111033348, rs2129315781, rs121908365, rs111033199, rs111033254, rs111033205, rs111033313, rs121908366, rs111033212, rs786200885, rs74315437, rs111033270, rs121908348, rs121908349, rs111033271, rs121908351, rs121908352, rs121908354, rs137853001, rs199469706, rs137853002, rs137853003, rs137852999, rs28939084, rs137853000, rs1480243085, rs397515359, rs151045328, rs121908370, rs104894414, rs80356600, rs80356584, rs2147483647, rs80356605, rs80356593, rs28937591, rs80356602, rs80356596, rs80356586, rs2128781753, rs28937588, rs80358277, rs28939710, rs80358271, rs80358278, rs80358276, rs80358272, rs80358279, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs121908965, rs121908966, rs121908967, rs121908968, rs748108031, rs121908969, rs121908971, rs769884586, rs121908972, rs746051220, rs1270302810, rs1567664131, rs121909058, rs966621865, rs121909059, rs121909060, rs1591437831, rs1281790755, rs121909061, rs121909063, rs1591462832, rs398124631, rs121909056, rs121909057, rs137853073, rs121909110, rs121909111, rs1476157529, rs104894478, rs80356460, rs121912557, rs1562201376, rs121912558, rs121912561, rs1562283089, rs121965079, rs41298133, rs28934610, rs121965081, rs2135550200, rs121965082, rs2135478294, rs121965084, rs1555102843, rs121918379, rs1372141763, rs121918380, rs1191259480, rs267607037, rs80338834, rs80338829, rs80338828, rs80338831, rs121913657, rs137853235, rs1788701297, rs35887622, rs80338944, rs104894396, rs104894397, rs80338939, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs886037624, rs80338943, rs80338945, rs104894401, rs104894406, rs104894407, rs72474224, rs886037625, rs28931595, rs28931593, rs80338940, rs104894413, rs104894409, rs72561723, rs121912947, rs121912948, rs121912950, rs28999111, rs104894544, rs104894545, rs104894546, rs104894547, rs267606630, rs267606631, rs267606932, rs1801002, rs80338941, rs80356587, rs80356590, rs80356591, rs80356595, rs80356594, rs80356598, rs281875328, rs281875329, rs80338950, rs201539845, rs387906700, rs387906915, rs387906930, rs387906999, rs387907000, rs748150647, rs387907001, rs946085339, rs387907002, rs387907015, rs387907016, rs387907017, rs75949023, rs387907088, rs149258390, rs387907149, rs782540538, rs397515411, rs370965183, rs397515412, rs1233562246, rs397514588, rs902734999, rs397514599, rs1029389440, rs397514607, rs397514608, rs397515435, rs111033206, rs111033201, rs397516295, rs111033437, rs111033233, rs199897298, rs111033214, rs111033178, rs111033347, rs111033187, rs111033174, rs111033448, rs111033182, rs397516317, rs368657015, rs397516322, rs111033215, rs111033232, rs397516326, rs111033283, rs111033285, rs397516411, rs111033314, rs397516413, rs397516414, rs111033305, rs111033220, rs111033311, rs111033306, rs397516416, rs397516417, rs111033407, rs397516418, rs111033316, rs111033312, rs397516420, rs111033257, rs397516421, rs397516424, rs111033309, rs111033318, rs397516427, rs111033241, rs111033302, rs145254330, rs111033380, rs111033242, rs111033256, rs111033454, rs111033245, rs111033297, rs111033451, rs111033293, rs111033361, rs397516871, rs111033299, rs111033204, rs111033253, rs397516873, rs104894408, rs111033295, rs397516874, rs76434661, rs111033217, rs111033420, rs111033335, rs111033294, rs111033190, rs111033401, rs200451098, rs397517287, rs373462792, rs372466080, rs397517323, rs56264519, rs374793617, rs201632198, rs147231991, rs181949335, rs397517452, rs202033121, rs151001642, rs370898981, rs188119157, rs111033383, rs111033405, rs199766465, rs111033373, rs111033349, rs587777040, rs397515581, rs397515582, rs1443739332, rs397515583, rs397515589, rs397515590, rs397515591, rs201329629, rs397515596, rs397515598, rs199848801, rs397515601, rs147321712, rs143939430, rs397515605, rs397515608, rs397515609, rs397515610, rs1648206560, rs398122967, rs398123006, rs398123070, rs431905513, rs431905517, rs431905518, rs200656442, rs587777147, rs199700840, rs1064792854, rs483352866, rs483353048, rs483353050, rs483353049, rs587777424, rs587777691, rs587777692, rs202138002, rs281865414, rs183258549, rs137853969, rs587783647, rs587783646, rs143343083, rs606231308, rs606231410, rs794729665, rs724160024, rs724160022, rs724160025, rs724160021, rs724160020, rs724160026, rs724160018, rs724160016, rs724160015, rs724160014, rs200147906, rs397515597, rs727504567, rs727505088, rs727503430, rs727503428, rs727505273, rs545947177, rs727504301, rs727503329, rs727504709, rs376764423, rs727503066, rs730880338, rs727504302, rs148690740, rs139956283, rs727503442, rs199839039, rs727503443, rs377480477, rs727503444, rs727504304, rs372526764, rs727503493, rs377015931, rs201587138, rs373937326, rs727503309, rs201978571, rs727503315, rs727505104, rs727503062, rs111033403, rs797044491, rs797044512, rs730882242, rs786201027, rs794728016, rs539699299, rs786204504, rs786204581, rs370588279, rs786204421, rs746238617, rs786204730, rs542620119, rs786204600, rs146281367, rs786204474, rs786204601, rs786204450, rs786204739, rs368119540, rs200455203, rs752807925, rs786204523, rs748706627, rs786204597, rs771748289, rs773528125, rs786204690, rs756484720, rs786204491, rs781534323, rs104894395, rs111033296, rs371024165, rs368027306, rs371100799, rs786204841, rs786205880, rs786205881, rs772264564, rs794729637, rs875989828, rs869320674, rs797044960, rs1553165199, rs797044965, rs797044966, rs797044967, rs797044968, rs797044969, rs797044970, rs797044972, rs797044907, rs797045596, rs778909195, rs863225243, rs863225431, rs863225432, rs864309523, rs864309524, rs869312750, rs869312749, rs754391973, rs201650281, rs397516875, rs532203068, rs876657776, rs762352115, rs876657653, rs757820624, rs138527651, rs773404494, rs876657754, rs876657656, rs876657658, rs766753922, rs759174628, rs876657725, rs772536599, rs765468034, rs184435771, rs143797113, rs782255281, rs876661405, rs876661408, rs777112652, rs878853223, rs878853225, rs878853229, rs878853230, rs753896285, rs140236996, rs878853224, rs878853235, rs878853236, rs878853226, rs774312182, rs878853232, rs878853239, rs377385081, rs878853227, rs878853228, rs878853238, rs878853231, rs878854409, rs878854410, rs878854412, rs878854413, rs878854414, rs878854415, rs779445819, rs774518779, rs1554358720, rs374742590, rs750188782, rs886043441, rs886043616, rs763975867, rs370730786, rs886044666, rs886052676, rs201636911, rs1057516658, rs1057516953, rs1057516988, rs1057516881, rs768245266, rs912147281, rs777333979, rs777008062, rs147952620, rs142498437, rs1057517000, rs376653349, rs1057516243, rs1057517303, rs542079779, rs1057516472, rs770832663, rs758685587, rs1057516342, rs757027638, rs1057517261, rs1057517251, rs1057517264, rs138138689, rs377145777, rs201892914, rs376535635, rs1057517521, rs770116143, rs1057517508, rs767178508, rs199883710, rs1057517491, rs1057517519, rs371086981, rs1057517839, rs766631025, rs201895089, rs1057519601, rs1057519603, rs779077039, rs1057519604, rs1057519606, rs1057519607, rs1057523846, rs763797356, rs139805921, rs1060499651, rs751447996, rs781688103, rs1060499805, rs1060499810, rs1060499799, rs1060499808, rs727503483, rs1056396947, rs1060499788, rs1060499791, rs778251205, rs1060499792, rs1060499793, rs1060499789, rs1060499790, rs764153521, rs1060499800, rs1060499803, rs1060499801, rs1060499802, rs747656448, rs1060499794, rs375916159, rs1060499804, rs1060499798, rs373520843, rs1060499811, rs1060499809, rs549095193, rs141142414, rs554847663, rs571594379, rs1555543836, rs549138385, rs1064797088, rs1064797096, rs1555501320, rs1131691778, rs748302886, rs756790858, rs777911261, rs768620276, rs200090033, rs775633137, rs372855769, rs780170125, rs1555512658, rs778748895, rs1355262412, rs782166819, rs782063761, rs1199012623, rs1378679640, rs1569308571, rs756147087, rs1554874373, rs1554856042, rs753580324, rs1553353527, rs1403112959, rs1553356452, rs1554352234, rs1554352676, rs1554355011, rs201562855, rs1554360358, rs1554360678, rs763006761, rs192366176, rs1554360816, rs749013429, rs1399914687, rs1554362735, rs1390562340, rs1554871816, rs758382198, rs750880909, rs1554874879, rs1554874900, rs1264310782, rs1554877797, rs144948296, rs1248889536, rs752649606, rs530520654, rs1555341794, rs141774369, rs760461823, rs537227442, rs750078356, rs773916549, rs782292032, rs1555546699, rs1477766714, rs1555896285, rs1555342014, rs775828835, rs574007567, rs1306586204, rs1555683951, rs781546107, rs769443188, rs771720649, rs769260536, rs762551629, rs1554882652, rs371465450, rs1554357231, rs1221876133, rs1293971731, rs775428246, rs772430523, rs1157646266, rs748854592, rs748868741, rs375459945, rs397517376, rs764178233, rs771264491, rs759523751, rs763915229, rs373058706, rs1555051455, rs782539587, rs1064797090, rs866476223, rs1555547112, rs1245338270, rs952235302, rs771844359, rs750130520, rs571007078, rs768257384, rs936479651, rs1554275988, rs551348450, rs1554218566, rs1553950635, rs1409994676, rs201326023, rs918684449, rs747076316, rs1554359693, rs1045933779, rs1554354787, rs1275009555, rs121908361, rs201660407, rs1554359670, rs1205712508, rs768471577, rs1554360707, rs142656144, rs1554362815, rs1554822897, rs1168400018, rs1554822703, rs1328440878, rs756692340, rs1554833249, rs1554883705, rs143842048, rs1304228309, rs778110397, rs1187887456, rs1298596518, rs1223763703, rs758555088, rs147956944, rs1207247951, rs1554960388, rs1554960390, rs771279169, rs1283092935, rs1317951509, rs1385324903, rs921755529, rs782064437, rs775496999, rs1253943370, rs568612627, rs1555341926, rs1555341931, rs1555342007, rs1555341783, rs1555341960, rs1555341993, rs1555341949, rs769486081, rs1555341954, rs749861944, rs961865375, rs369245990, rs148737918, rs759201338, rs1553191001, rs549556142, rs1330406146, rs998045226, rs375759781, rs1567658710, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs762876554, rs757327146, rs1564555185, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs751906778, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs1271250198, rs1567411469, rs1566528901, rs1302739538, rs1558014576, rs759414956, rs149712664, rs1567649945, rs1568839335, rs747955135, rs147717802, rs755471554, rs576724182, rs1564556995, rs762226905, rs773573968, rs1233145763, rs377748152, rs1564554148, rs1485674839, rs1562505728, rs1564803868, rs1565129771, rs756606635, rs774366025, rs1567620939, rs1557977732, rs773648511, rs1567396832, rs1557659237, rs1558482554, rs1558489384, rs1559875009, rs371544695, rs1562835480, rs1284633493, rs1562835515, rs746427774, rs1241745103, rs776268964, rs1187168418, rs1564386891, rs1564583413, rs1564544199, rs1564544348, rs1564795354, rs1344509500, rs1565536400, rs1591961566, rs1565331646, rs1565455391, rs1566528185, rs763904943, rs1567618790, rs1229200252, rs1567623176, rs866595552, rs1567638693, rs1555543432, rs1240409145, rs766250454, rs1568278651, rs1569034190, rs1569040134, rs1569042693, rs1569046250, rs1564602202, rs1564759653, rs1564791773, rs1565017125, rs1555076948, rs1338605788, rs751142446, rs773461233, rs1567658906, rs1429442821, rs201613240, rs202086317, rs1298804148, rs1291519904, rs763572195, rs1567624190, rs749136456, rs1418245706, rs1422767764, rs1562336726, rs1558472243, rs1274464930, rs1558485249, rs587783645, rs763898293, rs1591158999, rs771622183, rs1339709390, rs1584292992, rs760866131, rs1589156388, rs1591019480, rs1589072933, rs1591999307, rs111033477, rs889110926, rs1322423998, rs775776282, rs1597787868, rs984967571, rs760413427, rs773861155, rs1584344549, rs1720770872, rs773729617, rs752714222, rs1591224147, rs1597747826, rs1589079163, rs1589950125, rs1446588093, rs1591287317, rs1591310948, rs1591378140, rs1591514873, rs1597752877, rs766187994, rs281875327, rs1583335192, rs1598551290, rs111033290, rs1571147567, rs1571177726, rs1187285510, rs1584331188, rs1384677442, rs550153707, rs1583366400, rs1582024232, rs1599083635, rs1264383341, rs376104832, rs1366021609, rs757070287, rs1598914701, rs1601639680, rs759792660, rs1596339533, rs1601514990, rs1421964916, rs1952428470, rs1959056736, rs1442485603, rs2033273061, rs1407136283, rs963520367, rs951333133, rs1947057220, rs751369871, rs767270134, rs764867438, rs1288328459, rs2046752611, rs760069953, rs2032939837, rs1390498839, rs769983282, rs772048719, rs2094144044, rs1943288780, rs530874854	25457163, 23084290, 31752325, 27604308
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	31752325
Encephalopathy	Profound static encephalopathy	rs118204095, rs118204096, rs118204101, rs118204109, rs118204119, rs28939378, rs121908531, rs28936674, rs80359829, rs80359828, rs80359816, rs80359814, rs2124448824, rs121909739, rs121909740, rs267607061, rs80359818, rs387906935, rs1563989427, rs387907312, rs387907313, rs397514615, rs587784391, rs587784397, rs587784396, rs587784390, rs587784393, rs75485205, rs794729221, rs368311455, rs796053264, rs796053263, rs796053254, rs796053253, rs80359823, rs794727642, rs796053272, rs80359841, rs375169579, rs747753388, rs863224237, rs863223953, rs864309522, rs864321623, rs200659479, rs864321622, rs369160589, rs878853161, rs879253874, rs879255685, rs886037861, rs879255686, rs886037862, rs753829320, rs879255690, rs886039517, rs769525399, rs776095655, rs886041590, rs1057517515, rs1057517477, rs1057517729, rs1057517822, rs1057518953, rs1057518694, rs1057521967, rs1057520545, rs1057521066, rs80359832, rs368458768, rs1131691330, rs539962457, rs1190703859, rs776874412, rs1417315589, rs1553155986, rs1553156053, rs1553156051, rs1553156069, rs1554523224, rs1553157935, rs1553155973, rs1259158687, rs1413339367, rs753161833, rs143595616, rs1285225437, rs1553169629, rs1553169787, rs762366252, rs1553170029, rs1187631754, rs1553169720, rs1479104927, rs1345986424, rs1557646673, rs1565548029, rs80359819, rs1210153519, rs1557646075, rs1570590834, rs1570592933, rs80359812, rs1570593665, rs760398697, rs1570601007, rs1387203768, rs1570592844, rs1570593820, rs1570601060, rs1592661973, rs1570590859, rs1570590905, rs1341055534, rs1570592604, rs201966320, rs1645359135, rs751557097, rs752468216, rs80359824, rs1159593580, rs1677398842
Hearing loss	Sensorineural Hearing Loss (disorder)	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
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	30595370
Leukodystrophy	Leukodystrophy	rs74315475, rs72466451, rs267608671, rs181087667, rs267608682, rs267608674, rs587778271, rs148932047, rs886037931, rs368905417, rs768180196, rs1558211070, rs1558209947, rs1558210191, rs1280845604, rs1382083552, rs1576101665, rs1576080546, rs1576074651, rs1367958450, rs932183417
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	31752325
Nystagmus	Nystagmus	rs137852207, rs137852208, rs1928435502, rs137852209, rs137852210, rs1929191668, rs137852211, rs137852212, rs2124209414, rs387906720, rs387906721, rs1602791884, rs786205896

Unknown
Disease term	Disease name	Evidence	References	Source
Leigh Syndrome	Leigh syndrome			GenCC
Hearing Loss	hearing loss disorder			GenCC
Spinocerebellar Ataxia	spinocerebellar ataxia type 25			GenCC
Glaucoma	Glaucoma			GWAS
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis			GWAS
Pelvic Organ Prolapse	Pelvic Organ Prolapse			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Alcoholic Neuropathy	Associate	27759031
Anemia Pernicious	Associate	34145262
Ataxia	Associate	35411967
Carcinoma Hepatocellular	Associate	36232701, 37400627, 39522317
Carcinoma Non Small Cell Lung	Associate	39788504
Chorioretinitis	Associate	25457163
Disease	Associate	27759031
Eye Abnormalities	Associate	25457163
Hearing Loss	Associate	34194829
Hearing Loss Sensorineural	Associate	25457163
Inflammation	Associate	24143183
Intervertebral Disc Degeneration	Associate	33174041
Melanoma	Associate	16055741, 20547861, 24729470
Microcephaly	Associate	25457163
Mitochondrial Diseases	Associate	22411789, 23084291, 24143183, 27759031, 30020492
Mitochondrial Encephalomyopathies	Associate	23084291
Movement Disorders	Associate	23084291
Myopathy with Giant Abnormal Mitochondria	Associate	30020492
Neoplasms	Associate	36232701
Neuroblastoma	Associate	19202553
Nonsyndromic sensorineural hearing loss	Associate	34194829
Respiratory Insufficiency	Associate	27759031
Seizures	Associate	25457163
Spinocerebellar ataxia 25	Associate	35411967
Spinocerebellar Ataxias	Associate	35411967