PPT1 (palmitoyl-protein thioesterase 1)

Gene

• Entrez ID: 5538
• Gene name: Palmitoyl-protein thioesterase 1
• Gene symbol: PPT1
• Synonyms (NCBI Gene): CLN1, INCL, PPT
• Chromosome: 1
• Chromosome location: 1p34.2
• Summary: The protein encoded by this gene is a small glycoprotein involved in the catabolism of lipid-modified proteins during lysosomal degradation. The encoded enzyme removes thioester-linked fatty acyl groups such as palmitate from cysteine residues. Defects in

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137852695	T>A	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852696	T>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852697	T>C	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852698	A>T	Pathogenic	Missense variant, coding sequence variant
rs137852699	A>T	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs137852700	G>A,C	Pathogenic-likely-pathogenic, pathogenic	Stop gained, missense variant, coding sequence variant
rs137852701	C>G	Pathogenic	Missense variant, intron variant, coding sequence variant
rs137852702	C>T	Pathogenic	Missense variant, intron variant, coding sequence variant
rs143657539	C>T	Pathogenic	Intron variant, coding sequence variant, missense variant
rs148412181	C>A,T	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs371213189	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs386833624	TGAT>-	Likely-pathogenic	3 prime UTR variant
rs386833625	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833626	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs386833627	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833628	C>T	Likely-pathogenic	Splice donor variant
rs386833629	A>C	Likely-pathogenic	Intron variant
rs386833630	T>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs386833631	C>T	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs386833632	->ACA	Likely-pathogenic	Inframe insertion, coding sequence variant, intron variant
rs386833633	T>A	Likely-pathogenic	Coding sequence variant, stop gained, intron variant
rs386833634	->T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs386833635	C>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs386833636	A>G	Likely-pathogenic	Intron variant
rs386833637	AAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion, intron variant
rs386833638	CACACTGTTGTTACTTG>AA	Likely-pathogenic	Coding sequence variant, intron variant, inframe indel
rs386833641	T>A,C	Likely-pathogenic, uncertain-significance, likely-benign	Coding sequence variant, missense variant, stop gained, intron variant
rs386833642	A>C	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs386833643	A>C	Likely-pathogenic	Intron variant
rs386833644	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs386833645	C>T	Likely-pathogenic	Initiator codon variant, missense variant
rs386833647	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs386833648	G>A,T	Likely-pathogenic	Synonymous variant, coding sequence variant, stop gained
rs386833649	G>A	Pathogenic-likely-pathogenic	Coding sequence variant, stop gained
rs386833650	G>A,C	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs386833651	C>T	Pathogenic, likely-pathogenic	Splice donor variant
rs386833652	A>G	Likely-pathogenic	Splice donor variant
rs386833653	->G	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833654	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs386833655	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs386833656	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs386833657	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs386833658	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs386833659	C>A,T	Pathogenic, likely-pathogenic	Splice acceptor variant
rs386833660	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs386833661	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833662	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833663	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs386833664	T>A	Pathogenic-likely-pathogenic, likely-pathogenic	Splice acceptor variant, intron variant
rs386833665	A>G	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs386833666	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs386833667	->T	Likely-pathogenic	Coding sequence variant, frameshift variant, intron variant
rs386833668	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs386833669	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs386833670	C>T	Likely-pathogenic	Coding sequence variant, stop gained
rs386833671	A>C,G	Likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs560471003	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs747204624	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, missense variant
rs762226836	CCAAGAGCCACAG>-,CCAAGAGCCACAGCCAAGAGCCACAG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs764051026	T>C	Likely-pathogenic	Intron variant, coding sequence variant, missense variant
rs794727955	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs796052923	C>T	Pathogenic	Splice donor variant, intron variant
rs796052924	C>T	Pathogenic	Intron variant
rs796052925	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, stop gained
rs796052927	A>G	Pathogenic, likely-pathogenic	Missense variant, initiator codon variant
rs878853322	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs878853323	A>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs878853324	A>T	Likely-pathogenic	Missense variant, coding sequence variant
rs878853325	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs878853929	C>A	Likely-pathogenic	Splice donor variant, intron variant
rs886041568	C>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1057516447	G>T	Likely-pathogenic	Stop gained, intron variant, coding sequence variant
rs1057516575	->A	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516889	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517049	->AAGT	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057517112	TCCATGG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517192	T>-	Likely-pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057517368	A>T	Likely-pathogenic	Splice donor variant
rs1057517401	C>T	Likely-pathogenic	Splice donor variant, intron variant
rs1085307087	T>C	Likely-pathogenic	Initiator codon variant, missense variant
rs1265044710	C>A	Likely-pathogenic	Splice donor variant
rs1302326945	->AC	Pathogenic	Coding sequence variant, frameshift variant
rs1349528345	->T	Likely-pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1553166135	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs1553166147	T>C	Likely-pathogenic	Splice acceptor variant
rs1553166337	A>G	Likely-pathogenic	Intron variant, splice donor variant
rs1553166499	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553167415	C>T	Likely-pathogenic	Intron variant, splice donor variant
rs1553167430	T>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs1553167474	C>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553167479	GT>-	Likely-pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553167863	GCAG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1557714302	A>C	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1570467252	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1570470281	CA>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1570476221	C>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029493	hsa-miR-26b-5p	Microarray	19088304
MIRT031707	hsa-miR-16-5p	Proteomics	18668040
MIRT049981	hsa-miR-29a-3p	CLASH	23622248
MIRT046542	hsa-miR-15b-5p	CLASH	23622248
MIRT044818	hsa-miR-320a	CLASH	23622248
MIRT044242	hsa-miR-29c-3p	CLASH	23622248
MIRT042764	hsa-miR-339-5p	CLASH	23622248
MIRT654810	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT654809	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT654808	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT654807	hsa-miR-8055	HITS-CLIP	23824327
MIRT654810	hsa-miR-208a-5p	HITS-CLIP	23824327
MIRT654809	hsa-miR-208b-5p	HITS-CLIP	23824327
MIRT654808	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT654807	hsa-miR-8055	HITS-CLIP	23824327
MIRT1259158	hsa-miR-27a	CLIP-seq
MIRT1259159	hsa-miR-27b	CLIP-seq
MIRT1259160	hsa-miR-3144-5p	CLIP-seq
MIRT1259161	hsa-miR-3148	CLIP-seq
MIRT1259162	hsa-miR-3191	CLIP-seq
MIRT1259163	hsa-miR-3529	CLIP-seq
MIRT1259164	hsa-miR-3671	CLIP-seq
MIRT1259165	hsa-miR-379	CLIP-seq
MIRT1259166	hsa-miR-4280	CLIP-seq
MIRT1259167	hsa-miR-4451	CLIP-seq
MIRT1259168	hsa-miR-4481	CLIP-seq
MIRT1259169	hsa-miR-4496	CLIP-seq
MIRT1259170	hsa-miR-4650-3p	CLIP-seq
MIRT1259171	hsa-miR-4652-5p	CLIP-seq
MIRT1259172	hsa-miR-4720-3p	CLIP-seq
MIRT1259173	hsa-miR-4745-5p	CLIP-seq
MIRT1259174	hsa-miR-4797-5p	CLIP-seq
MIRT1259175	hsa-miR-491-5p	CLIP-seq
MIRT1259176	hsa-miR-513a-5p	CLIP-seq
MIRT1259177	hsa-miR-522	CLIP-seq
MIRT1259178	hsa-miR-548aa	CLIP-seq
MIRT1259179	hsa-miR-548ac	CLIP-seq
MIRT1259180	hsa-miR-548d-3p	CLIP-seq
MIRT1259181	hsa-miR-548z	CLIP-seq
MIRT1259182	hsa-miR-587	CLIP-seq
MIRT1259183	hsa-miR-759	CLIP-seq
MIRT1259184	hsa-miR-136	CLIP-seq
MIRT1259185	hsa-miR-194	CLIP-seq
MIRT1259186	hsa-miR-3124-3p	CLIP-seq
MIRT1259187	hsa-miR-3161	CLIP-seq
MIRT1259188	hsa-miR-33a	CLIP-seq
MIRT1259189	hsa-miR-33b	CLIP-seq
MIRT1259190	hsa-miR-3591-3p	CLIP-seq
MIRT1259191	hsa-miR-3682-3p	CLIP-seq
MIRT1259192	hsa-miR-3691-3p	CLIP-seq
MIRT1259193	hsa-miR-3942-3p	CLIP-seq
MIRT1259194	hsa-miR-421	CLIP-seq
MIRT1259195	hsa-miR-4253	CLIP-seq
MIRT1259196	hsa-miR-4272	CLIP-seq
MIRT1259197	hsa-miR-4426	CLIP-seq
MIRT1259198	hsa-miR-4436b-3p	CLIP-seq
MIRT1259199	hsa-miR-4647	CLIP-seq
MIRT1259200	hsa-miR-4654	CLIP-seq
MIRT1259201	hsa-miR-4662b	CLIP-seq
MIRT1259202	hsa-miR-4761-3p	CLIP-seq
MIRT1259203	hsa-miR-4769-5p	CLIP-seq
MIRT2076383	hsa-miR-4695-3p	CLIP-seq
MIRT1259185	hsa-miR-194	CLIP-seq
MIRT2302994	hsa-miR-1183	CLIP-seq
MIRT2302995	hsa-miR-122	CLIP-seq
MIRT2302996	hsa-miR-1266	CLIP-seq
MIRT2302997	hsa-miR-1273e	CLIP-seq
MIRT2302998	hsa-miR-1285	CLIP-seq
MIRT2302999	hsa-miR-1289	CLIP-seq
MIRT1259184	hsa-miR-136	CLIP-seq
MIRT2303000	hsa-miR-15a	CLIP-seq
MIRT2303001	hsa-miR-15b	CLIP-seq
MIRT2303002	hsa-miR-16	CLIP-seq
MIRT2303003	hsa-miR-1911	CLIP-seq
MIRT1259185	hsa-miR-194	CLIP-seq
MIRT2303004	hsa-miR-195	CLIP-seq
MIRT2303005	hsa-miR-1972	CLIP-seq
MIRT2303006	hsa-miR-203	CLIP-seq
MIRT1259158	hsa-miR-27a	CLIP-seq
MIRT1259159	hsa-miR-27b	CLIP-seq
MIRT2303007	hsa-miR-298	CLIP-seq
MIRT2303008	hsa-miR-299-3p	CLIP-seq
MIRT2303009	hsa-miR-29a	CLIP-seq
MIRT2303010	hsa-miR-29b	CLIP-seq
MIRT2303011	hsa-miR-29c	CLIP-seq
MIRT2303012	hsa-miR-3065-3p	CLIP-seq
MIRT2303013	hsa-miR-3121-5p	CLIP-seq
MIRT1259186	hsa-miR-3124-3p	CLIP-seq
MIRT1259160	hsa-miR-3144-5p	CLIP-seq
MIRT2303014	hsa-miR-3150b-3p	CLIP-seq
MIRT2303015	hsa-miR-3158-5p	CLIP-seq
MIRT2303016	hsa-miR-3187-5p	CLIP-seq
MIRT1259162	hsa-miR-3191	CLIP-seq
MIRT2303017	hsa-miR-3198	CLIP-seq
MIRT1259188	hsa-miR-33a	CLIP-seq
MIRT1259189	hsa-miR-33b	CLIP-seq
MIRT2303018	hsa-miR-34c-3p	CLIP-seq
MIRT1259190	hsa-miR-3591-3p	CLIP-seq
MIRT2303019	hsa-miR-3664-3p	CLIP-seq
MIRT1259192	hsa-miR-3691-3p	CLIP-seq
MIRT2303020	hsa-miR-3925-3p	CLIP-seq
MIRT2303021	hsa-miR-3940-5p	CLIP-seq
MIRT1259193	hsa-miR-3942-3p	CLIP-seq
MIRT1259194	hsa-miR-421	CLIP-seq
MIRT2303022	hsa-miR-424	CLIP-seq
MIRT1259195	hsa-miR-4253	CLIP-seq
MIRT1259196	hsa-miR-4272	CLIP-seq
MIRT2303023	hsa-miR-4309	CLIP-seq
MIRT1259197	hsa-miR-4426	CLIP-seq
MIRT2303024	hsa-miR-4428	CLIP-seq
MIRT2303025	hsa-miR-4433	CLIP-seq
MIRT1259198	hsa-miR-4436b-3p	CLIP-seq
MIRT2303026	hsa-miR-4459	CLIP-seq
MIRT2303027	hsa-miR-4470	CLIP-seq
MIRT1259168	hsa-miR-4481	CLIP-seq
MIRT2303028	hsa-miR-4501	CLIP-seq
MIRT2303029	hsa-miR-4507	CLIP-seq
MIRT2303030	hsa-miR-4518	CLIP-seq
MIRT2303031	hsa-miR-451b	CLIP-seq
MIRT2303032	hsa-miR-4524	CLIP-seq
MIRT1259199	hsa-miR-4647	CLIP-seq
MIRT2303033	hsa-miR-4650-5p	CLIP-seq
MIRT1259171	hsa-miR-4652-5p	CLIP-seq
MIRT1259200	hsa-miR-4654	CLIP-seq
MIRT1259201	hsa-miR-4662b	CLIP-seq
MIRT2303034	hsa-miR-4689	CLIP-seq
MIRT2076383	hsa-miR-4695-3p	CLIP-seq
MIRT2303035	hsa-miR-4696	CLIP-seq
MIRT2303036	hsa-miR-4717-5p	CLIP-seq
MIRT1259173	hsa-miR-4745-5p	CLIP-seq
MIRT2303037	hsa-miR-4760-3p	CLIP-seq
MIRT1259202	hsa-miR-4761-3p	CLIP-seq
MIRT2303038	hsa-miR-4768-3p	CLIP-seq
MIRT1259203	hsa-miR-4769-5p	CLIP-seq
MIRT2303039	hsa-miR-4777-3p	CLIP-seq
MIRT2303040	hsa-miR-4784	CLIP-seq
MIRT2303041	hsa-miR-4796-3p	CLIP-seq
MIRT1259174	hsa-miR-4797-5p	CLIP-seq
MIRT1259175	hsa-miR-491-5p	CLIP-seq
MIRT2303042	hsa-miR-497	CLIP-seq
MIRT2303043	hsa-miR-503	CLIP-seq
MIRT2303044	hsa-miR-5096	CLIP-seq
MIRT1259176	hsa-miR-513a-5p	CLIP-seq
MIRT2303045	hsa-miR-520g	CLIP-seq
MIRT2303046	hsa-miR-520h	CLIP-seq
MIRT2303047	hsa-miR-544b	CLIP-seq
MIRT2303048	hsa-miR-574-5p	CLIP-seq
MIRT2303049	hsa-miR-612	CLIP-seq
MIRT2303050	hsa-miR-646	CLIP-seq
MIRT2303051	hsa-miR-661	CLIP-seq
MIRT1259183	hsa-miR-759	CLIP-seq
MIRT2303052	hsa-miR-766	CLIP-seq
MIRT2303053	hsa-miR-944	CLIP-seq
MIRT2302994	hsa-miR-1183	CLIP-seq
MIRT2599741	hsa-miR-1226	CLIP-seq
MIRT2599742	hsa-miR-1251	CLIP-seq
MIRT2599743	hsa-miR-125a-5p	CLIP-seq
MIRT2599744	hsa-miR-125b	CLIP-seq
MIRT2302996	hsa-miR-1266	CLIP-seq
MIRT2302997	hsa-miR-1273e	CLIP-seq
MIRT2599745	hsa-miR-1273g	CLIP-seq
MIRT2599746	hsa-miR-1279	CLIP-seq
MIRT2302998	hsa-miR-1285	CLIP-seq
MIRT2302999	hsa-miR-1289	CLIP-seq
MIRT2599747	hsa-miR-1322	CLIP-seq
MIRT2599748	hsa-miR-150	CLIP-seq
MIRT2599749	hsa-miR-183	CLIP-seq
MIRT2303003	hsa-miR-1911	CLIP-seq
MIRT1259185	hsa-miR-194	CLIP-seq
MIRT2303005	hsa-miR-1972	CLIP-seq
MIRT2303006	hsa-miR-203	CLIP-seq
MIRT2599750	hsa-miR-22	CLIP-seq
MIRT2599751	hsa-miR-221	CLIP-seq
MIRT2599752	hsa-miR-222	CLIP-seq
MIRT1259158	hsa-miR-27a	CLIP-seq
MIRT1259159	hsa-miR-27b	CLIP-seq
MIRT2303007	hsa-miR-298	CLIP-seq
MIRT2599753	hsa-miR-3125	CLIP-seq
MIRT1259160	hsa-miR-3144-5p	CLIP-seq
MIRT2303016	hsa-miR-3187-5p	CLIP-seq
MIRT1259162	hsa-miR-3191	CLIP-seq
MIRT2599754	hsa-miR-330-3p	CLIP-seq
MIRT1259163	hsa-miR-3529	CLIP-seq
MIRT2599755	hsa-miR-3611	CLIP-seq
MIRT2599756	hsa-miR-3653	CLIP-seq
MIRT2599757	hsa-miR-3658	CLIP-seq
MIRT2303019	hsa-miR-3664-3p	CLIP-seq
MIRT2599758	hsa-miR-3670	CLIP-seq
MIRT1259164	hsa-miR-3671	CLIP-seq
MIRT2599759	hsa-miR-3714	CLIP-seq
MIRT1259165	hsa-miR-379	CLIP-seq
MIRT2599760	hsa-miR-3916	CLIP-seq
MIRT2599761	hsa-miR-4278	CLIP-seq
MIRT1259166	hsa-miR-4280	CLIP-seq
MIRT2599762	hsa-miR-4283	CLIP-seq
MIRT2599763	hsa-miR-4319	CLIP-seq
MIRT2599764	hsa-miR-4422	CLIP-seq
MIRT2303025	hsa-miR-4433	CLIP-seq
MIRT1259198	hsa-miR-4436b-3p	CLIP-seq
MIRT1259167	hsa-miR-4451	CLIP-seq
MIRT2303026	hsa-miR-4459	CLIP-seq
MIRT2599765	hsa-miR-4476	CLIP-seq
MIRT2599766	hsa-miR-4477a	CLIP-seq
MIRT1259168	hsa-miR-4481	CLIP-seq
MIRT1259169	hsa-miR-4496	CLIP-seq
MIRT2303028	hsa-miR-4501	CLIP-seq
MIRT2599767	hsa-miR-4511	CLIP-seq
MIRT2303030	hsa-miR-4518	CLIP-seq
MIRT2303031	hsa-miR-451b	CLIP-seq
MIRT2599768	hsa-miR-4522	CLIP-seq
MIRT1259170	hsa-miR-4650-3p	CLIP-seq
MIRT2303033	hsa-miR-4650-5p	CLIP-seq
MIRT1259171	hsa-miR-4652-5p	CLIP-seq
MIRT2599769	hsa-miR-4661-5p	CLIP-seq
MIRT2599770	hsa-miR-4662a-5p	CLIP-seq
MIRT2599771	hsa-miR-4688	CLIP-seq
MIRT2599772	hsa-miR-4693-5p	CLIP-seq
MIRT2599773	hsa-miR-4713-5p	CLIP-seq
MIRT2599774	hsa-miR-4729	CLIP-seq
MIRT2599775	hsa-miR-4732-3p	CLIP-seq
MIRT2599776	hsa-miR-4733-3p	CLIP-seq
MIRT2599777	hsa-miR-4736	CLIP-seq
MIRT1259173	hsa-miR-4745-5p	CLIP-seq
MIRT2303038	hsa-miR-4768-3p	CLIP-seq
MIRT2303039	hsa-miR-4777-3p	CLIP-seq
MIRT1259174	hsa-miR-4797-5p	CLIP-seq
MIRT1259175	hsa-miR-491-5p	CLIP-seq
MIRT2303044	hsa-miR-5096	CLIP-seq
MIRT1259176	hsa-miR-513a-5p	CLIP-seq
MIRT1259177	hsa-miR-522	CLIP-seq
MIRT2599778	hsa-miR-532-3p	CLIP-seq
MIRT2599779	hsa-miR-545	CLIP-seq
MIRT2599780	hsa-miR-548p	CLIP-seq
MIRT2599781	hsa-miR-548v	CLIP-seq
MIRT1259182	hsa-miR-587	CLIP-seq
MIRT2303049	hsa-miR-612	CLIP-seq
MIRT2599782	hsa-miR-634	CLIP-seq
MIRT2599783	hsa-miR-657	CLIP-seq
MIRT2303051	hsa-miR-661	CLIP-seq
MIRT2599784	hsa-miR-670	CLIP-seq
MIRT2599785	hsa-miR-7	CLIP-seq
MIRT1259183	hsa-miR-759	CLIP-seq
MIRT2302994	hsa-miR-1183	CLIP-seq
MIRT2599741	hsa-miR-1226	CLIP-seq
MIRT2599742	hsa-miR-1251	CLIP-seq
MIRT2599743	hsa-miR-125a-5p	CLIP-seq
MIRT2599744	hsa-miR-125b	CLIP-seq
MIRT2302996	hsa-miR-1266	CLIP-seq
MIRT2302997	hsa-miR-1273e	CLIP-seq
MIRT2599745	hsa-miR-1273g	CLIP-seq
MIRT2599746	hsa-miR-1279	CLIP-seq
MIRT2302998	hsa-miR-1285	CLIP-seq
MIRT2302999	hsa-miR-1289	CLIP-seq
MIRT2688499	hsa-miR-1299	CLIP-seq
MIRT2599747	hsa-miR-1322	CLIP-seq
MIRT2599748	hsa-miR-150	CLIP-seq
MIRT2599749	hsa-miR-183	CLIP-seq
MIRT2303003	hsa-miR-1911	CLIP-seq
MIRT1259185	hsa-miR-194	CLIP-seq
MIRT2303005	hsa-miR-1972	CLIP-seq
MIRT2303006	hsa-miR-203	CLIP-seq
MIRT2688500	hsa-miR-204	CLIP-seq
MIRT2688501	hsa-miR-211	CLIP-seq
MIRT2599750	hsa-miR-22	CLIP-seq
MIRT2599751	hsa-miR-221	CLIP-seq
MIRT2599752	hsa-miR-222	CLIP-seq
MIRT1259158	hsa-miR-27a	CLIP-seq
MIRT1259159	hsa-miR-27b	CLIP-seq
MIRT2303007	hsa-miR-298	CLIP-seq
MIRT2599753	hsa-miR-3125	CLIP-seq
MIRT1259160	hsa-miR-3144-5p	CLIP-seq
MIRT2303015	hsa-miR-3158-5p	CLIP-seq
MIRT1259187	hsa-miR-3161	CLIP-seq
MIRT2303016	hsa-miR-3187-5p	CLIP-seq
MIRT1259162	hsa-miR-3191	CLIP-seq
MIRT2599754	hsa-miR-330-3p	CLIP-seq
MIRT1259163	hsa-miR-3529	CLIP-seq
MIRT2599755	hsa-miR-3611	CLIP-seq
MIRT2599756	hsa-miR-3653	CLIP-seq
MIRT2599757	hsa-miR-3658	CLIP-seq
MIRT2303019	hsa-miR-3664-3p	CLIP-seq
MIRT2599758	hsa-miR-3670	CLIP-seq
MIRT1259164	hsa-miR-3671	CLIP-seq
MIRT1259191	hsa-miR-3682-3p	CLIP-seq
MIRT2599759	hsa-miR-3714	CLIP-seq
MIRT1259165	hsa-miR-379	CLIP-seq
MIRT2599760	hsa-miR-3916	CLIP-seq
MIRT2688502	hsa-miR-4263	CLIP-seq
MIRT2599761	hsa-miR-4278	CLIP-seq
MIRT1259166	hsa-miR-4280	CLIP-seq
MIRT2599762	hsa-miR-4283	CLIP-seq
MIRT2688503	hsa-miR-4287	CLIP-seq
MIRT2599763	hsa-miR-4319	CLIP-seq
MIRT2599764	hsa-miR-4422	CLIP-seq
MIRT1259197	hsa-miR-4426	CLIP-seq
MIRT2303025	hsa-miR-4433	CLIP-seq
MIRT1259198	hsa-miR-4436b-3p	CLIP-seq
MIRT1259167	hsa-miR-4451	CLIP-seq
MIRT2303026	hsa-miR-4459	CLIP-seq
MIRT2599765	hsa-miR-4476	CLIP-seq
MIRT2599766	hsa-miR-4477a	CLIP-seq
MIRT1259168	hsa-miR-4481	CLIP-seq
MIRT1259169	hsa-miR-4496	CLIP-seq
MIRT2303028	hsa-miR-4501	CLIP-seq
MIRT2599767	hsa-miR-4511	CLIP-seq
MIRT2303030	hsa-miR-4518	CLIP-seq
MIRT2303031	hsa-miR-451b	CLIP-seq
MIRT2599768	hsa-miR-4522	CLIP-seq
MIRT2688504	hsa-miR-4539	CLIP-seq
MIRT1259199	hsa-miR-4647	CLIP-seq
MIRT1259170	hsa-miR-4650-3p	CLIP-seq
MIRT2303033	hsa-miR-4650-5p	CLIP-seq
MIRT1259171	hsa-miR-4652-5p	CLIP-seq
MIRT1259200	hsa-miR-4654	CLIP-seq
MIRT2599769	hsa-miR-4661-5p	CLIP-seq
MIRT2599770	hsa-miR-4662a-5p	CLIP-seq
MIRT1259201	hsa-miR-4662b	CLIP-seq
MIRT2688505	hsa-miR-4685-3p	CLIP-seq
MIRT2599771	hsa-miR-4688	CLIP-seq
MIRT2599772	hsa-miR-4693-5p	CLIP-seq
MIRT2303035	hsa-miR-4696	CLIP-seq
MIRT2599773	hsa-miR-4713-5p	CLIP-seq
MIRT2303036	hsa-miR-4717-5p	CLIP-seq
MIRT2688506	hsa-miR-4724-5p	CLIP-seq
MIRT2599774	hsa-miR-4729	CLIP-seq
MIRT2599775	hsa-miR-4732-3p	CLIP-seq
MIRT2599776	hsa-miR-4733-3p	CLIP-seq
MIRT2599777	hsa-miR-4736	CLIP-seq
MIRT1259173	hsa-miR-4745-5p	CLIP-seq
MIRT2303038	hsa-miR-4768-3p	CLIP-seq
MIRT1259203	hsa-miR-4769-5p	CLIP-seq
MIRT2303039	hsa-miR-4777-3p	CLIP-seq
MIRT2303041	hsa-miR-4796-3p	CLIP-seq
MIRT1259174	hsa-miR-4797-5p	CLIP-seq
MIRT2688507	hsa-miR-4799-5p	CLIP-seq
MIRT1259175	hsa-miR-491-5p	CLIP-seq
MIRT2303044	hsa-miR-5096	CLIP-seq
MIRT1259176	hsa-miR-513a-5p	CLIP-seq
MIRT2303045	hsa-miR-520g	CLIP-seq
MIRT2303046	hsa-miR-520h	CLIP-seq
MIRT1259177	hsa-miR-522	CLIP-seq
MIRT2599778	hsa-miR-532-3p	CLIP-seq
MIRT2599779	hsa-miR-545	CLIP-seq
MIRT2688508	hsa-miR-548a-3p	CLIP-seq
MIRT2688509	hsa-miR-548e	CLIP-seq
MIRT2688510	hsa-miR-548f	CLIP-seq
MIRT2599780	hsa-miR-548p	CLIP-seq
MIRT2599781	hsa-miR-548v	CLIP-seq
MIRT2688511	hsa-miR-561	CLIP-seq
MIRT2688512	hsa-miR-576-5p	CLIP-seq
MIRT1259182	hsa-miR-587	CLIP-seq
MIRT2303049	hsa-miR-612	CLIP-seq
MIRT2599782	hsa-miR-634	CLIP-seq
MIRT2599783	hsa-miR-657	CLIP-seq
MIRT2303051	hsa-miR-661	CLIP-seq
MIRT2599784	hsa-miR-670	CLIP-seq
MIRT2599785	hsa-miR-7	CLIP-seq
MIRT1259183	hsa-miR-759	CLIP-seq
MIRT2688513	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002084	Process	Protein depalmitoylation	IDA	10658183, 10737604
GO:0002084	Process	Protein depalmitoylation	ISS
GO:0005515	Function	Protein binding	IPI	17237713, 19941651, 25544563, 32814053
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IDA	8895569
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	ISS
GO:0005615	Component	Extracellular space	IEA
GO:0005634	Component	Nucleus	IDA	10992246
GO:0005764	Component	Lysosome	IBA
GO:0005764	Component	Lysosome	IDA	8895569, 11020216, 19941651
GO:0005764	Component	Lysosome	IEA
GO:0005764	Component	Lysosome	ISS
GO:0005765	Component	Lysosomal membrane	IDA	14716310
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005794	Component	Golgi apparatus	IDA	7637805
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	ISS
GO:0006897	Process	Endocytosis	IBA
GO:0006898	Process	Receptor-mediated endocytosis	IMP	16542649
GO:0006907	Process	Pinocytosis	IMP	16542649
GO:0007040	Process	Lysosome organization	IEA
GO:0007042	Process	Lysosomal lumen acidification	IMP	11722572
GO:0007269	Process	Neurotransmitter secretion	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0007399	Process	Nervous system development	IMP	7637805
GO:0007420	Process	Brain development	IMP	7637805
GO:0007601	Process	Visual perception	IEA
GO:0007601	Process	Visual perception	IEA
GO:0007625	Process	Grooming behavior	IEA
GO:0008021	Component	Synaptic vesicle	IDA	12483688
GO:0008021	Component	Synaptic vesicle	IEA
GO:0008306	Process	Associative learning	IEA
GO:0008344	Process	Adult locomotory behavior	IEA
GO:0008474	Function	Palmitoyl-(protein) hydrolase activity	IBA
GO:0008474	Function	Palmitoyl-(protein) hydrolase activity	IDA	10658183, 10737604
GO:0008474	Function	Palmitoyl-(protein) hydrolase activity	IEA
GO:0008474	Function	Palmitoyl-(protein) hydrolase activity	IMP	7637805
GO:0008474	Function	Palmitoyl-(protein) hydrolase activity	ISS
GO:0008474	Function	Palmitoyl-(protein) hydrolase activity	TAS
GO:0009057	Process	Macromolecule catabolic process	IEA
GO:0015031	Process	Protein transport	IMP	10737604
GO:0016020	Component	Membrane	HDA	19946888
GO:0016042	Process	Lipid catabolic process	IDA	8816748
GO:0016787	Function	Hydrolase activity	IEA
GO:0019834	Function	Phospholipase A2 inhibitor activity	IEA
GO:0030149	Process	Sphingolipid catabolic process	TAS	16542649
GO:0030163	Process	Protein catabolic process	IEA
GO:0030163	Process	Protein catabolic process	NAS	10740217
GO:0030308	Process	Negative regulation of cell growth	IMP	10737604
GO:0030424	Component	Axon	IDA	12483688
GO:0030424	Component	Axon	IEA
GO:0030425	Component	Dendrite	IEA
GO:0030672	Component	Synaptic vesicle membrane	IEA
GO:0031579	Process	Membrane raft organization	IMP	15929065
GO:0034162	Process	Toll-like receptor 9 signaling pathway	ISS
GO:0034164	Process	Negative regulation of toll-like receptor 9 signaling pathway	IDA	14716310
GO:0035727	Function	Lysophosphatidic acid binding	IDA	18317235
GO:0043025	Component	Neuronal cell body	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	15929065
GO:0043202	Component	Lysosomal lumen	TAS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IMP	10737604, 11020216
GO:0045121	Component	Membrane raft	IDA	15929065
GO:0046949	Process	Fatty-acyl-CoA biosynthetic process	TAS
GO:0048260	Process	Positive regulation of receptor-mediated endocytosis	IMP	16542649
GO:0048549	Process	Positive regulation of pinocytosis	IMP	16542649
GO:0048666	Process	Neuron development	TAS	11136716
GO:0050803	Process	Regulation of synapse structure or activity	NAS	11136716
GO:0052816	Function	Long-chain fatty acyl-CoA hydrolase activity	IBA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0098599	Function	Palmitoyl hydrolase activity	IEA
GO:0099523	Component	Presynaptic cytosol	IEA
GO:0120146	Function	Sulfatide binding	IDA	18317235

Other IDs

• MIM: 600722
• HGNC: 9325
• e!Ensembl: ENSG00000131238

Protein

• UniProt ID: P50897
• Protein name: Palmitoyl-protein thioesterase 1 (PPT-1) (EC 3.1.2.2) (EC 3.1.2.22) (Palmitoyl-protein hydrolase 1)
• Protein function: Has thioesterase activity against fatty acid thioesters with 14 -18 carbons, including palmitoyl-CoA, S-palmitoyl-N-acetylcysteamine, and palmitoylated proteins (PubMed:12855696, PubMed:26731412, PubMed:8816748). In contrast to PPT2, PPT1 can hy
• PDB: 3GRO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02089	Palm_thioest	34 → 289		Domain

• Sequence:

  MASPGCLWLLAVALLPWTCASRALQHLDPPAPLPLVIWHGMGDSCCNPLSMGAIKKMVEK
  KIPGIYVLSLEIGKTLMEDVENSFFLNVNSQVTTVCQALAKDPKLQQGYNAMGFSQGGQF
  LRAVAQRCPSPPMINLISVGGQHQGVFGLPRCPGESSHICDFIRKTLNAGAYSKVVQERL
  VQAEYWHDPIKEDVYRNHSIFLADINQERGINESYKKNLMALKKFVMVKFLNDSIVDPVD
  SEWFGFYRSGQAKETIPLQETSLYTQDRLGLKEMDNAGQLVFLATEGDHLQLSEEWFYAH
  IIPFLG

• Sequence length: 306

Pathways

KEGG:

Fatty acid elongation
Metabolic pathways
Fatty acid metabolism
Lysosome

Reactome:

Fatty acyl-CoA biosynthesis

Associated diseases

Evidence Score:

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

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormality of the nervous system	Likely pathogenic	rs386833651	RCV001814032	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Likely pathogenic; Pathogenic	rs878853322	RCV004594031	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronal ceroid lipofuscinosis	Likely pathogenic; Pathogenic	rs2523635525, rs878853324, rs137852695, rs137852699, rs137852700, rs143657539, rs386833626, rs386833634, rs386833637, rs386833644, rs386833645, rs386833646, rs386833651, rs148412181, rs386833655, rs386833659, rs386833661, rs386833665	RCV002281758 RCV005895179 RCV000581618 RCV005406734 RCV000583336 RCV002282269 RCV005055553 RCV000584447 RCV001844028 RCV001797615 RCV000589397 RCV003226183 RCV000584560 RCV001526944 RCV003155060 RCV000587410 RCV001192781 RCV003317068	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuronal ceroid lipofuscinosis 1	Pathogenic; Likely pathogenic	rs2124472385, rs2124472229, rs2124474476, rs148412181, rs2124487750, rs2124487925, rs2124494531, rs2124484378, rs1477443863, rs2124487981, rs1649619197, rs796052927, rs2124470378, rs762226836, rs2124474566, rs1057516889, rs2523635666, rs2523635615, rs2523689662, rs1320425016, rs774831480, rs2523620826, rs794727955, rs796052925, rs796052923, rs1228395356, rs1398080802, rs746043871, rs2523631229, rs2523709256, rs1085307087, rs2523709882, rs2523675796, rs776987537, rs2523709453, rs878853322, rs878853324, rs878853325, rs878853929, rs137852695, rs137852696, rs137852697, rs137852698, rs137852699, rs137852700, rs137852701, rs137852702, rs886041568, rs2523687692, rs2523688009, rs2523642484, rs2523642598, rs2523620344, rs2523709689, rs2523684410, rs2523687822, rs386833630, rs386833634, rs2523687837, rs2523635810, rs2523687999, rs2523642334, rs2523675546, rs2523635789, rs2523683923, rs776995551, rs386833659, rs1057516575, rs386833650, rs1057517401, rs1057516447, rs1057517049, rs1057517192, rs1057517368, rs1057517112, rs747204624, rs764051026, rs1265044710, rs143657539, rs1553167863, rs1553166135, rs1553166147, rs1553167430, rs1349528345, rs1553166499, rs1553166337, rs1553167415, rs1553167474, rs1553167479, rs1557714302, rs1302326945, rs1570470281, rs1570476221, rs1570467252, rs386833624, rs386833626, rs386833625, rs386833627, rs386833628, rs386833629, rs386833632, rs386833633, rs386833635, rs386833636, rs386833637, rs386833638, rs386833641, rs386833642, rs386833643, rs386833644, rs386833645, rs386833646, rs386833647, rs386833648, rs386833649, rs386833651, rs386833652, rs386833653, rs386833654, rs386833655, rs386833656, rs386833657, rs386833658, rs386833660, rs386833661, rs386833663, rs386833664, rs386833665, rs386833666, rs386833667, rs386833668, rs386833669, rs386833671, rs1649597261, rs1649901192, rs1648444864, rs1648659458, rs1259755308	RCV001378615 RCV001381455 RCV001383679 RCV001385552 RCV001390473 RCV001385927 RCV001387455 RCV001650479 RCV001924963 RCV001990690 RCV001984269 RCV001917377 RCV001878098 RCV001939675 RCV002071015 RCV002309926 RCV002306830 RCV002307078 RCV000169209 RCV002488682 RCV003077656 RCV002630060 RCV002510726 RCV001852250 RCV000412210 RCV001233540 RCV000410251 RCV002717020 RCV002791908 RCV002829181 RCV002852528 RCV002866835 RCV002877470 RCV002890146 RCV003042526 RCV003046689 RCV003056153 RCV000490479 RCV000225555 RCV000225429 RCV000225536 RCV000228420 RCV000009450 RCV000009451 RCV000009452 RCV000009453 RCV000009454 RCV000009455 RCV000009458 RCV000009459 RCV000984304 RCV003448644 RCV003472516 RCV003472517 RCV003472518 RCV003472519 RCV003472520 RCV003472521 RCV003472522 RCV003510552 RCV003509290 RCV003511454 RCV003509943 RCV003510217 RCV003619965 RCV003619909 RCV003620765 RCV003620743 RCV003620703 RCV003620860 RCV003621221 RCV003621297 RCV003621208 RCV003620166 RCV003870655 RCV004574618 RCV004574619 RCV000409710 RCV000411709 RCV000409681 RCV000410545 RCV000409057 RCV000411589 RCV000411460 RCV000410017 RCV000411788 RCV000410504 RCV001341505 RCV000544945 RCV002531879 RCV000666152 RCV000667069 RCV000666663 RCV000668323 RCV000667194 RCV000673195 RCV000673437 RCV000674642 RCV000673308 RCV000674538 RCV000669944 RCV000785936 RCV000820723 RCV000805058 RCV000823029 RCV000824897 RCV000049552 RCV000049553 RCV000049585 RCV000049586 RCV000049587 RCV000049588 RCV000049589 RCV000049591 RCV000049592 RCV000049593 RCV000049594 RCV000049595 RCV000049596 RCV000049597 RCV000049600 RCV000049601 RCV000049602 RCV000049603 RCV000049604 RCV000049605 RCV000049606 RCV000049607 RCV000049608 RCV000049609 RCV000049610 RCV000049611 RCV000049612 RCV000049613 RCV000049614 RCV000049615 RCV000049616 RCV000049617 RCV000049618 RCV000049619 RCV000049620 RCV000049621 RCV000049623 RCV000049624 RCV000049625 RCV000049626 RCV000049627 RCV000049628 RCV000049629 RCV000049631 RCV001061953 RCV001036915 RCV001070351 RCV001224764 RCV001220801 RCV001255711	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuronal Ceroid-Lipofuscinosis, Recessive	Likely pathogenic; Pathogenic	rs137852700	RCV000352109	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PPT1-related disorder	Pathogenic; Likely pathogenic	rs137852696, rs137852700, rs1553167863	RCV003407309 RCV003398477 RCV003411575	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Retinitis pigmentosa	Pathogenic	rs148412181, rs137852696	RCV001723740 RCV001723555	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spastic ataxia	Likely pathogenic; Pathogenic	rs386833661	RCV001646987	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic	rs1057517368	RCV005900639	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Central core myopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 1	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID-LIPOFUSCINOSES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RETINITIS PIGMENTOSA 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISION DISORDERS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Actinic keratosis	Actinic keratosis	BEFREE	27518833		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of prostate	Prostate adenocarcinoma	BEFREE	21379379		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34948429	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16642400		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37103469	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	15087406		★☆☆☆☆ Found in Text Mining only
Carnitine palmitoyl transferase 2 deficiency	Carnitine palmitoyltransferase deficiency	Pubtator	10781062	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar cortical atrophy	Cerebellar cortical atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ceroid Lipofuscinosis Neuronal 1	Neuronal ceroid lipofuscinosis	Pubtator	34000449	Associate	★☆☆☆☆ Found in Text Mining only
Ceroid lipofuscinosis neuronal 5	Neuronal ceroid lipofuscinosis	Pubtator	22431521	Associate	★☆☆☆☆ Found in Text Mining only
Ceroid lipofuscinosis, neuronal 1, infantile	Neuronal ceroid lipofuscinosis	BEFREE	10231585, 10416973, 10446748, 10679943, 11020216, 11520175, 11589008, 16364693, 16542649, 16644870, 18245779, 18704195, 18948101, 19733542, 22387303, 23857568, 25205113, 26846731, 30204428, 7789974, 8325646		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ceroid lipofuscinosis, neuronal 1, infantile	Neuronal ceroid lipofuscinosis	CTD_human_DG	21224254, 27722792, 7637805		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 1	Neuronal ceroid lipofuscinosis	CLINVAR_DG	10191109, 10477428, 10649502, 10679943, 10781062, 11073228, 11440996, 11520175, 11589012, 12796825, 14997939, 17044973, 17565660, 19302939, 19440452, 19793631, 19941651, 21228398, 21499717, 21704547, 21990111, 22387303, 23374165, 23539563, 23857568, 24997880, 2538469, 26795593, 28878621, 7637805, 9425237, 9571187, 9664077, 9733046, 9793631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 1	Neuronal ceroid lipofuscinosis	UNIPROT_DG	11506414, 19201763, 19941651, 21990111, 7637805, 9425237, 9664077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 1	Neuronal ceroid lipofuscinosis	ORPHANET_DG	21990111		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 1	Neuronal ceroid lipofuscinosis	BEFREE	23747979, 25865307, 26707855, 27722792, 28673981, 28792770, 28878621, 31289301		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 1	Neuronal ceroid lipofuscinosis	GENOMICS_ENGLAND_DG	27604308, 9664077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 1	Neuronal ceroid lipofuscinosis	CTD_human_DG	9425237		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathies	BEFREE	28334871		★☆☆☆☆ Found in Text Mining only
CLN1 disease	Neuronal Ceroid Lipofuscinosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16518810		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36291699	Inhibit	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30376877		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Desmoid disease hereditary	Desmoid tumor	Pubtator	26510000	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Development Disorder	BEFREE	11073228		★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	10679943, 26707855		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	26453052		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	29894633		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	1827756		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	1827756		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	30289300		★☆☆☆☆ Found in Text Mining only
Hallucinations	Hallucinations	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30376877		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	22155432		★☆☆☆☆ Found in Text Mining only
Immunologic Deficiency Syndromes	Immunologic Deficiency Syndromes	BEFREE	19733542		★☆☆☆☆ Found in Text Mining only
Infantile neuronal ceroid lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	10051407, 10231585, 10416973, 10446748, 10781062, 11520175, 11589008, 11673581, 14528005, 15193292, 16364693, 16542649, 16644870, 18245779, 18704195, 18948101, 19733542, 21203506, 21224254, 21704547, 22031903, 22387303, 23747979, 23857568, 25205113, 25865307, 26238334, 26597320, 26707855, 26846731, 27722792, 28334871, 28673981, 28792770, 28878621, 30946007, 31289301, 8803767, 9151310, 9571187		★☆☆☆☆ Found in Text Mining only
Infantile neuronal ceroid lipofuscinosis	Neuronal Ceroid Lipofuscinosis	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	12382155, 12633880, 15075260, 17045465, 20346914, 21203506, 28506594, 30541466, 31025705, 8014971, 9425237		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Late-Infantile Neuronal Ceroid Lipfuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	16759889, 19302939		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26157141		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	26157141		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16642400		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16052227, 17053814, 18188185, 24649837, 24849040		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	21356207, 28899863, 30442709		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Mucolipidoses	Mucolipidosis	Pubtator	9247083	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16052227, 24849040, 28978646, 30442709, 31262842, 8647157		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	31783156		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	10737604, 11020216, 11589008, 25865307		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	10737604	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	10416973, 10781062, 11589008, 16364693, 16542649, 19345705, 19733542, 26659577, 26731412, 28266544, 30914023, 30946007, 7789974, 8895569, 8969009		★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	10191107, 10446748, 10649502, 10679943, 11001810, 11001811, 11001812, 11085596, 11142754, 11332776, 11589016, 11699562, 12125808, 12796825, 14997939, 15352223, 15459177, 15965709, 16720047, 17388982, 19302939, 19431184, 19807737, 20680390, 22155432, 22520356, 23274885, 25205113, 25982063, 26443629, 26659577, 26731412, 28792770, 28878621, 29599076, 29631617, 30541466, 30918483, 31501224, 31512412, 31578378, 7668359, 7668360, 8014971, 8412021, 8803767, 8969009, 9151314, 9458173		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	CLINVAR_DG	10191107, 10679943, 11073228, 11440996, 11589012, 17565660, 25574475, 9425237, 9664077		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	LHGDN	12025857, 17261688		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30876460		★☆☆☆☆ Found in Text Mining only
Nonorganic psychosis	Nonorganic Psychosis	BEFREE	31270934		★☆☆☆☆ Found in Text Mining only
obsolete Rod-cone dystrophy	Rod-cone dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	29341930		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	17968170		★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson disease	Pubtator	11339651	Associate	★☆☆☆☆ Found in Text Mining only
Parkinsonian Disorders	Parkinson Disease	BEFREE	26238334		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	27603705		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16052227, 17053814, 18188185, 24649837, 24849040		★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	31270934		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	31512412	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19165527		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	22155432, 31270934		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	31270934	Associate	★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	23539563	Associate	★☆☆☆☆ Found in Text Mining only
Vesicular Stomatitis	Vesicular Stomatitis	BEFREE	31262842		★☆☆☆☆ Found in Text Mining only