LPIN1 (lipin 1)

Gene

• Entrez ID: 23175
• Gene name: Lipin 1
• Gene symbol: LPIN1
• Synonyms (NCBI Gene): PAP1
• Chromosome: 2
• Chromosome location: 2p25.1
• Summary: This gene encodes a magnesium-ion-dependent phosphatidic acid phosphohydrolase enzyme that catalyzes the penultimate step in triglyceride synthesis including the dephosphorylation of phosphatidic acid to yield diacylglycerol. Expression of this gene is re

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs119480071	G>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs119480072	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs119480073	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained, genic downstream transcript variant, synonymous variant
rs730880306	T>C	Pathogenic	Splice donor variant, downstream transcript variant, genic downstream transcript variant
rs886041544	->GA	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 3 prime UTR variant
rs1572770217	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1572931008	->GTGTCACCACGCAGTACCA	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018934	hsa-miR-335-5p	Microarray	18185580
MIRT050981	hsa-miR-17-5p	CLASH	23622248
MIRT049016	hsa-miR-92a-3p	CLASH	23622248
MIRT437695	hsa-miR-27a-3p	Microarray, qRT-PCR	22815788
MIRT437704	hsa-miR-27b-3p	Microarray, qRT-PCR	22815788
MIRT440316	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT440317	hsa-miR-432-3p	HITS-CLIP	24374217
MIRT440316	hsa-miR-485-5p	HITS-CLIP	24374217
MIRT440317	hsa-miR-432-3p	HITS-CLIP	24374217
MIRT1116256	hsa-miR-105	CLIP-seq
MIRT1116257	hsa-miR-106a	CLIP-seq
MIRT1116258	hsa-miR-106b	CLIP-seq
MIRT1116259	hsa-miR-122	CLIP-seq
MIRT1116260	hsa-miR-1237	CLIP-seq
MIRT1116261	hsa-miR-1271	CLIP-seq
MIRT1116262	hsa-miR-1286	CLIP-seq
MIRT1116263	hsa-miR-130a	CLIP-seq
MIRT1116264	hsa-miR-130b	CLIP-seq
MIRT1116265	hsa-miR-137	CLIP-seq
MIRT1116266	hsa-miR-142-5p	CLIP-seq
MIRT1116267	hsa-miR-17	CLIP-seq
MIRT1116268	hsa-miR-182	CLIP-seq
MIRT1116269	hsa-miR-199a-3p	CLIP-seq
MIRT1116270	hsa-miR-199b-3p	CLIP-seq
MIRT1116271	hsa-miR-20a	CLIP-seq
MIRT1116272	hsa-miR-20b	CLIP-seq
MIRT1116273	hsa-miR-218	CLIP-seq
MIRT1116274	hsa-miR-2278	CLIP-seq
MIRT1116275	hsa-miR-25	CLIP-seq
MIRT1116276	hsa-miR-27a	CLIP-seq
MIRT1116277	hsa-miR-27b	CLIP-seq
MIRT1116278	hsa-miR-300	CLIP-seq
MIRT1116279	hsa-miR-301a	CLIP-seq
MIRT1116280	hsa-miR-301b	CLIP-seq
MIRT1116281	hsa-miR-3123	CLIP-seq
MIRT1116282	hsa-miR-3129-5p	CLIP-seq
MIRT1116283	hsa-miR-3135	CLIP-seq
MIRT1116284	hsa-miR-3135b	CLIP-seq
MIRT1116285	hsa-miR-3159	CLIP-seq
MIRT1116286	hsa-miR-3163	CLIP-seq
MIRT1116287	hsa-miR-32	CLIP-seq
MIRT1116288	hsa-miR-324-5p	CLIP-seq
MIRT1116289	hsa-miR-3545-3p	CLIP-seq
MIRT1116290	hsa-miR-3607-5p	CLIP-seq
MIRT1116291	hsa-miR-3609	CLIP-seq
MIRT1116292	hsa-miR-363	CLIP-seq
MIRT1116293	hsa-miR-3646	CLIP-seq
MIRT1116294	hsa-miR-3652	CLIP-seq
MIRT1116295	hsa-miR-3664-5p	CLIP-seq
MIRT1116296	hsa-miR-3666	CLIP-seq
MIRT1116297	hsa-miR-367	CLIP-seq
MIRT1116298	hsa-miR-381	CLIP-seq
MIRT1116299	hsa-miR-3910	CLIP-seq
MIRT1116300	hsa-miR-4269	CLIP-seq
MIRT1116301	hsa-miR-4282	CLIP-seq
MIRT1116302	hsa-miR-4284	CLIP-seq
MIRT1116303	hsa-miR-4295	CLIP-seq
MIRT1116304	hsa-miR-4310	CLIP-seq
MIRT1116305	hsa-miR-4311	CLIP-seq
MIRT1116306	hsa-miR-4317	CLIP-seq
MIRT1116307	hsa-miR-4323	CLIP-seq
MIRT1116308	hsa-miR-4430	CLIP-seq
MIRT1116309	hsa-miR-4436b-3p	CLIP-seq
MIRT1116310	hsa-miR-4464	CLIP-seq
MIRT1116311	hsa-miR-4470	CLIP-seq
MIRT1116312	hsa-miR-4501	CLIP-seq
MIRT1116313	hsa-miR-4504	CLIP-seq
MIRT1116314	hsa-miR-4514	CLIP-seq
MIRT1116315	hsa-miR-4521	CLIP-seq
MIRT1116316	hsa-miR-4528	CLIP-seq
MIRT1116317	hsa-miR-454	CLIP-seq
MIRT1116318	hsa-miR-4635	CLIP-seq
MIRT1116319	hsa-miR-4638-5p	CLIP-seq
MIRT1116320	hsa-miR-4642	CLIP-seq
MIRT1116321	hsa-miR-4666-3p	CLIP-seq
MIRT1116322	hsa-miR-4671-3p	CLIP-seq
MIRT1116323	hsa-miR-4692	CLIP-seq
MIRT1116324	hsa-miR-4711-5p	CLIP-seq
MIRT1116325	hsa-miR-4712-3p	CLIP-seq
MIRT1116326	hsa-miR-4712-5p	CLIP-seq
MIRT1116327	hsa-miR-4714-5p	CLIP-seq
MIRT1116328	hsa-miR-4717-3p	CLIP-seq
MIRT1116329	hsa-miR-4727-5p	CLIP-seq
MIRT1116330	hsa-miR-4729	CLIP-seq
MIRT1116331	hsa-miR-4738-3p	CLIP-seq
MIRT1116332	hsa-miR-4742-5p	CLIP-seq
MIRT1116333	hsa-miR-4748	CLIP-seq
MIRT1116334	hsa-miR-4753-3p	CLIP-seq
MIRT1116335	hsa-miR-4753-5p	CLIP-seq
MIRT1116336	hsa-miR-4761-3p	CLIP-seq
MIRT1116337	hsa-miR-4772-3p	CLIP-seq
MIRT1116338	hsa-miR-4796-3p	CLIP-seq
MIRT1116339	hsa-miR-4803	CLIP-seq
MIRT1116340	hsa-miR-488	CLIP-seq
MIRT1116341	hsa-miR-511	CLIP-seq
MIRT1116342	hsa-miR-513a-5p	CLIP-seq
MIRT1116343	hsa-miR-515-5p	CLIP-seq
MIRT1116344	hsa-miR-518a-3p	CLIP-seq
MIRT1116345	hsa-miR-518a-5p	CLIP-seq
MIRT1116346	hsa-miR-518b	CLIP-seq
MIRT1116347	hsa-miR-518c	CLIP-seq
MIRT1116348	hsa-miR-518d-3p	CLIP-seq
MIRT1116349	hsa-miR-518f	CLIP-seq
MIRT1116350	hsa-miR-519d	CLIP-seq
MIRT1116351	hsa-miR-526b	CLIP-seq
MIRT1116352	hsa-miR-527	CLIP-seq
MIRT1116353	hsa-miR-539	CLIP-seq
MIRT1116354	hsa-miR-542-3p	CLIP-seq
MIRT1116355	hsa-miR-548ah	CLIP-seq
MIRT1116356	hsa-miR-548an	CLIP-seq
MIRT1116357	hsa-miR-550b	CLIP-seq
MIRT1116358	hsa-miR-556-5p	CLIP-seq
MIRT1116359	hsa-miR-562	CLIP-seq
MIRT1116360	hsa-miR-577	CLIP-seq
MIRT1116361	hsa-miR-579	CLIP-seq
MIRT1116362	hsa-miR-582-5p	CLIP-seq
MIRT1116363	hsa-miR-587	CLIP-seq
MIRT1116364	hsa-miR-595	CLIP-seq
MIRT1116365	hsa-miR-600	CLIP-seq
MIRT1116366	hsa-miR-610	CLIP-seq
MIRT1116367	hsa-miR-636	CLIP-seq
MIRT1116368	hsa-miR-640	CLIP-seq
MIRT1116369	hsa-miR-648	CLIP-seq
MIRT1116370	hsa-miR-664	CLIP-seq
MIRT1116371	hsa-miR-668	CLIP-seq
MIRT1116372	hsa-miR-770-5p	CLIP-seq
MIRT1116373	hsa-miR-891b	CLIP-seq
MIRT1116374	hsa-miR-924	CLIP-seq
MIRT1116375	hsa-miR-92a	CLIP-seq
MIRT1116376	hsa-miR-92b	CLIP-seq
MIRT1116377	hsa-miR-93	CLIP-seq
MIRT1116378	hsa-miR-940	CLIP-seq
MIRT1116379	hsa-miR-944	CLIP-seq
MIRT1116380	hsa-miR-96	CLIP-seq
MIRT1116259	hsa-miR-122	CLIP-seq
MIRT2032810	hsa-miR-1272	CLIP-seq
MIRT1116262	hsa-miR-1286	CLIP-seq
MIRT2032811	hsa-miR-1302	CLIP-seq
MIRT1116263	hsa-miR-130a	CLIP-seq
MIRT1116264	hsa-miR-130b	CLIP-seq
MIRT2032812	hsa-miR-1909	CLIP-seq
MIRT1116269	hsa-miR-199a-3p	CLIP-seq
MIRT1116270	hsa-miR-199b-3p	CLIP-seq
MIRT2032813	hsa-miR-2467-3p	CLIP-seq
MIRT1116276	hsa-miR-27a	CLIP-seq
MIRT1116277	hsa-miR-27b	CLIP-seq
MIRT2032814	hsa-miR-29a	CLIP-seq
MIRT2032815	hsa-miR-29b	CLIP-seq
MIRT2032816	hsa-miR-29c	CLIP-seq
MIRT1116279	hsa-miR-301a	CLIP-seq
MIRT1116280	hsa-miR-301b	CLIP-seq
MIRT2032817	hsa-miR-3065-3p	CLIP-seq
MIRT2032818	hsa-miR-31	CLIP-seq
MIRT2032819	hsa-miR-3122	CLIP-seq
MIRT2032820	hsa-miR-3128	CLIP-seq
MIRT1116282	hsa-miR-3129-5p	CLIP-seq
MIRT1116284	hsa-miR-3135b	CLIP-seq
MIRT2032821	hsa-miR-3143	CLIP-seq
MIRT2032822	hsa-miR-3155	CLIP-seq
MIRT2032823	hsa-miR-3155b	CLIP-seq
MIRT2032824	hsa-miR-3194-3p	CLIP-seq
MIRT1116288	hsa-miR-324-5p	CLIP-seq
MIRT2032825	hsa-miR-3606	CLIP-seq
MIRT1116294	hsa-miR-3652	CLIP-seq
MIRT1116295	hsa-miR-3664-5p	CLIP-seq
MIRT1116296	hsa-miR-3666	CLIP-seq
MIRT2032826	hsa-miR-3714	CLIP-seq
MIRT2032827	hsa-miR-3913-5p	CLIP-seq
MIRT1116300	hsa-miR-4269	CLIP-seq
MIRT1116302	hsa-miR-4284	CLIP-seq
MIRT1116303	hsa-miR-4295	CLIP-seq
MIRT2032828	hsa-miR-4298	CLIP-seq
MIRT1116308	hsa-miR-4430	CLIP-seq
MIRT1116313	hsa-miR-4504	CLIP-seq
MIRT2032829	hsa-miR-4506	CLIP-seq
MIRT1116314	hsa-miR-4514	CLIP-seq
MIRT1116317	hsa-miR-454	CLIP-seq
MIRT1116319	hsa-miR-4638-5p	CLIP-seq
MIRT1116322	hsa-miR-4671-3p	CLIP-seq
MIRT1116323	hsa-miR-4692	CLIP-seq
MIRT1116327	hsa-miR-4714-5p	CLIP-seq
MIRT1116332	hsa-miR-4742-5p	CLIP-seq
MIRT2032830	hsa-miR-4759	CLIP-seq
MIRT1116337	hsa-miR-4772-3p	CLIP-seq
MIRT2032831	hsa-miR-4793-3p	CLIP-seq
MIRT2032832	hsa-miR-484	CLIP-seq
MIRT1116342	hsa-miR-513a-5p	CLIP-seq
MIRT1116345	hsa-miR-518a-5p	CLIP-seq
MIRT1116352	hsa-miR-527	CLIP-seq
MIRT2032833	hsa-miR-543	CLIP-seq
MIRT1116357	hsa-miR-550b	CLIP-seq
MIRT1116378	hsa-miR-940	CLIP-seq
MIRT1116379	hsa-miR-944	CLIP-seq
MIRT1116256	hsa-miR-105	CLIP-seq
MIRT2263175	hsa-miR-1179	CLIP-seq
MIRT1116259	hsa-miR-122	CLIP-seq
MIRT2263176	hsa-miR-1254	CLIP-seq
MIRT2263177	hsa-miR-1270	CLIP-seq
MIRT1116261	hsa-miR-1271	CLIP-seq
MIRT1116263	hsa-miR-130a	CLIP-seq
MIRT1116264	hsa-miR-130b	CLIP-seq
MIRT2263178	hsa-miR-147	CLIP-seq
MIRT2263179	hsa-miR-150	CLIP-seq
MIRT2263180	hsa-miR-1537	CLIP-seq
MIRT1116268	hsa-miR-182	CLIP-seq
MIRT2263181	hsa-miR-185	CLIP-seq
MIRT2263182	hsa-miR-186	CLIP-seq
MIRT1116269	hsa-miR-199a-3p	CLIP-seq
MIRT2263183	hsa-miR-199a-5p	CLIP-seq
MIRT1116270	hsa-miR-199b-3p	CLIP-seq
MIRT2263184	hsa-miR-199b-5p	CLIP-seq
MIRT2263185	hsa-miR-200b	CLIP-seq
MIRT2263186	hsa-miR-200c	CLIP-seq
MIRT2263187	hsa-miR-203	CLIP-seq
MIRT2263188	hsa-miR-21	CLIP-seq
MIRT2263189	hsa-miR-23a	CLIP-seq
MIRT2263190	hsa-miR-23b	CLIP-seq
MIRT2263191	hsa-miR-23c	CLIP-seq
MIRT1116276	hsa-miR-27a	CLIP-seq
MIRT1116277	hsa-miR-27b	CLIP-seq
MIRT1116279	hsa-miR-301a	CLIP-seq
MIRT1116280	hsa-miR-301b	CLIP-seq
MIRT2032818	hsa-miR-31	CLIP-seq
MIRT2263192	hsa-miR-3116	CLIP-seq
MIRT2263193	hsa-miR-3120-3p	CLIP-seq
MIRT2263194	hsa-miR-3121-5p	CLIP-seq
MIRT2032820	hsa-miR-3128	CLIP-seq
MIRT1116282	hsa-miR-3129-5p	CLIP-seq
MIRT1116284	hsa-miR-3135b	CLIP-seq
MIRT2032822	hsa-miR-3155	CLIP-seq
MIRT2032823	hsa-miR-3155b	CLIP-seq
MIRT1116285	hsa-miR-3159	CLIP-seq
MIRT1116288	hsa-miR-324-5p	CLIP-seq
MIRT2263195	hsa-miR-338-3p	CLIP-seq
MIRT1116294	hsa-miR-3652	CLIP-seq
MIRT2263196	hsa-miR-3662	CLIP-seq
MIRT1116295	hsa-miR-3664-5p	CLIP-seq
MIRT1116296	hsa-miR-3666	CLIP-seq
MIRT2263197	hsa-miR-3672	CLIP-seq
MIRT1116299	hsa-miR-3910	CLIP-seq
MIRT2263198	hsa-miR-3911	CLIP-seq
MIRT2263199	hsa-miR-4273	CLIP-seq
MIRT1116301	hsa-miR-4282	CLIP-seq
MIRT2263200	hsa-miR-429	CLIP-seq
MIRT1116303	hsa-miR-4295	CLIP-seq
MIRT2263201	hsa-miR-4306	CLIP-seq
MIRT1116304	hsa-miR-4310	CLIP-seq
MIRT1116308	hsa-miR-4430	CLIP-seq
MIRT1116309	hsa-miR-4436b-3p	CLIP-seq
MIRT1116311	hsa-miR-4470	CLIP-seq
MIRT1116313	hsa-miR-4504	CLIP-seq
MIRT1116316	hsa-miR-4528	CLIP-seq
MIRT2263202	hsa-miR-4530	CLIP-seq
MIRT2263203	hsa-miR-4531	CLIP-seq
MIRT2263204	hsa-miR-4539	CLIP-seq
MIRT1116317	hsa-miR-454	CLIP-seq
MIRT2263205	hsa-miR-4641	CLIP-seq
MIRT1116320	hsa-miR-4642	CLIP-seq
MIRT2263206	hsa-miR-4644	CLIP-seq
MIRT1116322	hsa-miR-4671-3p	CLIP-seq
MIRT2263207	hsa-miR-4676-5p	CLIP-seq
MIRT2263208	hsa-miR-4677-5p	CLIP-seq
MIRT1116326	hsa-miR-4712-5p	CLIP-seq
MIRT1116327	hsa-miR-4714-5p	CLIP-seq
MIRT1116336	hsa-miR-4761-3p	CLIP-seq
MIRT2032831	hsa-miR-4793-3p	CLIP-seq
MIRT2032832	hsa-miR-484	CLIP-seq
MIRT1116342	hsa-miR-513a-5p	CLIP-seq
MIRT1116345	hsa-miR-518a-5p	CLIP-seq
MIRT1116352	hsa-miR-527	CLIP-seq
MIRT2263209	hsa-miR-545	CLIP-seq
MIRT2263210	hsa-miR-548aa	CLIP-seq
MIRT1116356	hsa-miR-548an	CLIP-seq
MIRT2263211	hsa-miR-548c-3p	CLIP-seq
MIRT1116358	hsa-miR-556-5p	CLIP-seq
MIRT1116359	hsa-miR-562	CLIP-seq
MIRT2263212	hsa-miR-575	CLIP-seq
MIRT1116361	hsa-miR-579	CLIP-seq
MIRT1116362	hsa-miR-582-5p	CLIP-seq
MIRT1116363	hsa-miR-587	CLIP-seq
MIRT2263213	hsa-miR-590-5p	CLIP-seq
MIRT1116364	hsa-miR-595	CLIP-seq
MIRT2263214	hsa-miR-620	CLIP-seq
MIRT2263215	hsa-miR-644	CLIP-seq
MIRT1116369	hsa-miR-648	CLIP-seq
MIRT1116370	hsa-miR-664	CLIP-seq
MIRT1116371	hsa-miR-668	CLIP-seq
MIRT1116372	hsa-miR-770-5p	CLIP-seq
MIRT1116373	hsa-miR-891b	CLIP-seq
MIRT2263216	hsa-miR-9	CLIP-seq
MIRT1116380	hsa-miR-96	CLIP-seq
MIRT1116259	hsa-miR-122	CLIP-seq
MIRT2390302	hsa-miR-1299	CLIP-seq
MIRT1116263	hsa-miR-130a	CLIP-seq
MIRT1116264	hsa-miR-130b	CLIP-seq
MIRT2390303	hsa-miR-134	CLIP-seq
MIRT1116269	hsa-miR-199a-3p	CLIP-seq
MIRT1116270	hsa-miR-199b-3p	CLIP-seq
MIRT2032814	hsa-miR-29a	CLIP-seq
MIRT2032815	hsa-miR-29b	CLIP-seq
MIRT2032816	hsa-miR-29c	CLIP-seq
MIRT1116279	hsa-miR-301a	CLIP-seq
MIRT1116280	hsa-miR-301b	CLIP-seq
MIRT2032817	hsa-miR-3065-3p	CLIP-seq
MIRT2390304	hsa-miR-3118	CLIP-seq
MIRT1116282	hsa-miR-3129-5p	CLIP-seq
MIRT1116284	hsa-miR-3135b	CLIP-seq
MIRT2390305	hsa-miR-3164	CLIP-seq
MIRT1116294	hsa-miR-3652	CLIP-seq
MIRT1116295	hsa-miR-3664-5p	CLIP-seq
MIRT1116296	hsa-miR-3666	CLIP-seq
MIRT2390306	hsa-miR-3978	CLIP-seq
MIRT1116303	hsa-miR-4295	CLIP-seq
MIRT1116308	hsa-miR-4430	CLIP-seq
MIRT1116317	hsa-miR-454	CLIP-seq
MIRT1116322	hsa-miR-4671-3p	CLIP-seq
MIRT1116326	hsa-miR-4712-5p	CLIP-seq
MIRT2390307	hsa-miR-4782-5p	CLIP-seq
MIRT2390308	hsa-miR-516b	CLIP-seq
MIRT1116361	hsa-miR-579	CLIP-seq
MIRT1116372	hsa-miR-770-5p	CLIP-seq
MIRT2390309	hsa-miR-875-3p	CLIP-seq
MIRT2430847	hsa-miR-489	CLIP-seq
MIRT2430848	hsa-miR-514	CLIP-seq
MIRT2453250	hsa-miR-3665	CLIP-seq
MIRT2032826	hsa-miR-3714	CLIP-seq
MIRT2453251	hsa-miR-3934	CLIP-seq
MIRT2453252	hsa-miR-3942-3p	CLIP-seq
MIRT2453253	hsa-miR-4736	CLIP-seq
MIRT2453254	hsa-miR-4786-3p	CLIP-seq
MIRT1116378	hsa-miR-940	CLIP-seq
MIRT2562553	hsa-miR-10a	CLIP-seq
MIRT2562554	hsa-miR-10b	CLIP-seq
MIRT2562555	hsa-miR-1183	CLIP-seq
MIRT1116259	hsa-miR-122	CLIP-seq
MIRT1116260	hsa-miR-1237	CLIP-seq
MIRT2263176	hsa-miR-1254	CLIP-seq
MIRT1116262	hsa-miR-1286	CLIP-seq
MIRT2562556	hsa-miR-1287	CLIP-seq
MIRT2390302	hsa-miR-1299	CLIP-seq
MIRT1116263	hsa-miR-130a	CLIP-seq
MIRT1116264	hsa-miR-130b	CLIP-seq
MIRT2562557	hsa-miR-1324	CLIP-seq
MIRT2390303	hsa-miR-134	CLIP-seq
MIRT2562558	hsa-miR-139-5p	CLIP-seq
MIRT2562559	hsa-miR-1908	CLIP-seq
MIRT2562560	hsa-miR-198	CLIP-seq
MIRT1116269	hsa-miR-199a-3p	CLIP-seq
MIRT1116270	hsa-miR-199b-3p	CLIP-seq
MIRT2263185	hsa-miR-200b	CLIP-seq
MIRT2263186	hsa-miR-200c	CLIP-seq
MIRT1116276	hsa-miR-27a	CLIP-seq
MIRT1116277	hsa-miR-27b	CLIP-seq
MIRT1116279	hsa-miR-301a	CLIP-seq
MIRT1116280	hsa-miR-301b	CLIP-seq
MIRT2263192	hsa-miR-3116	CLIP-seq
MIRT2390304	hsa-miR-3118	CLIP-seq
MIRT2562561	hsa-miR-3127-5p	CLIP-seq
MIRT1116282	hsa-miR-3129-5p	CLIP-seq
MIRT2562562	hsa-miR-3130-3p	CLIP-seq
MIRT1116283	hsa-miR-3135	CLIP-seq
MIRT1116284	hsa-miR-3135b	CLIP-seq
MIRT1116285	hsa-miR-3159	CLIP-seq
MIRT2390305	hsa-miR-3164	CLIP-seq
MIRT2562563	hsa-miR-3190	CLIP-seq
MIRT2032824	hsa-miR-3194-3p	CLIP-seq
MIRT2562564	hsa-miR-3200-5p	CLIP-seq
MIRT2562565	hsa-miR-339-5p	CLIP-seq
MIRT2562566	hsa-miR-361-5p	CLIP-seq
MIRT1116294	hsa-miR-3652	CLIP-seq
MIRT1116296	hsa-miR-3666	CLIP-seq
MIRT2263197	hsa-miR-3672	CLIP-seq
MIRT2562567	hsa-miR-3676	CLIP-seq
MIRT2562568	hsa-miR-3690	CLIP-seq
MIRT2562569	hsa-miR-3691-3p	CLIP-seq
MIRT2032826	hsa-miR-3714	CLIP-seq
MIRT2562570	hsa-miR-374c	CLIP-seq
MIRT2562571	hsa-miR-3919	CLIP-seq
MIRT2562572	hsa-miR-3922-5p	CLIP-seq
MIRT2562573	hsa-miR-3936	CLIP-seq
MIRT2390306	hsa-miR-3978	CLIP-seq
MIRT2562574	hsa-miR-4251	CLIP-seq
MIRT1116300	hsa-miR-4269	CLIP-seq
MIRT1116301	hsa-miR-4282	CLIP-seq
MIRT1116302	hsa-miR-4284	CLIP-seq
MIRT2263200	hsa-miR-429	CLIP-seq
MIRT1116303	hsa-miR-4295	CLIP-seq
MIRT1116307	hsa-miR-4323	CLIP-seq
MIRT2562575	hsa-miR-4329	CLIP-seq
MIRT2562576	hsa-miR-4330	CLIP-seq
MIRT2562577	hsa-miR-4422	CLIP-seq
MIRT1116308	hsa-miR-4430	CLIP-seq
MIRT2562578	hsa-miR-4457	CLIP-seq
MIRT1116310	hsa-miR-4464	CLIP-seq
MIRT2562579	hsa-miR-4477b	CLIP-seq
MIRT2562580	hsa-miR-4480	CLIP-seq
MIRT2562581	hsa-miR-4491	CLIP-seq
MIRT1116314	hsa-miR-4514	CLIP-seq
MIRT1116317	hsa-miR-454	CLIP-seq
MIRT1116319	hsa-miR-4638-5p	CLIP-seq
MIRT2562582	hsa-miR-4645-3p	CLIP-seq
MIRT2562583	hsa-miR-4649-3p	CLIP-seq
MIRT2562584	hsa-miR-4650-5p	CLIP-seq
MIRT2562585	hsa-miR-4657	CLIP-seq
MIRT1116322	hsa-miR-4671-3p	CLIP-seq
MIRT2562586	hsa-miR-4687-5p	CLIP-seq
MIRT2562587	hsa-miR-4690-5p	CLIP-seq
MIRT1116323	hsa-miR-4692	CLIP-seq
MIRT2562588	hsa-miR-4693-3p	CLIP-seq
MIRT2562589	hsa-miR-4698	CLIP-seq
MIRT2562590	hsa-miR-4706	CLIP-seq
MIRT1116328	hsa-miR-4717-3p	CLIP-seq
MIRT2562591	hsa-miR-4725-5p	CLIP-seq
MIRT1116329	hsa-miR-4727-5p	CLIP-seq
MIRT1116332	hsa-miR-4742-5p	CLIP-seq
MIRT2562592	hsa-miR-4743	CLIP-seq
MIRT1116333	hsa-miR-4748	CLIP-seq
MIRT2562593	hsa-miR-4749-5p	CLIP-seq
MIRT1116334	hsa-miR-4753-3p	CLIP-seq
MIRT1116335	hsa-miR-4753-5p	CLIP-seq
MIRT2562594	hsa-miR-4755-3p	CLIP-seq
MIRT2562595	hsa-miR-4756-3p	CLIP-seq
MIRT2032830	hsa-miR-4759	CLIP-seq
MIRT1116337	hsa-miR-4772-3p	CLIP-seq
MIRT2390307	hsa-miR-4782-5p	CLIP-seq
MIRT2562596	hsa-miR-4783-3p	CLIP-seq
MIRT2562597	hsa-miR-4789-3p	CLIP-seq
MIRT2032831	hsa-miR-4793-3p	CLIP-seq
MIRT2562598	hsa-miR-499-3p	CLIP-seq
MIRT2562599	hsa-miR-499a-3p	CLIP-seq
MIRT2562600	hsa-miR-504	CLIP-seq
MIRT1116342	hsa-miR-513a-5p	CLIP-seq
MIRT2390308	hsa-miR-516b	CLIP-seq
MIRT1116345	hsa-miR-518a-5p	CLIP-seq
MIRT1116352	hsa-miR-527	CLIP-seq
MIRT2263209	hsa-miR-545	CLIP-seq
MIRT2562601	hsa-miR-548ag	CLIP-seq
MIRT2562602	hsa-miR-548ai	CLIP-seq
MIRT1116356	hsa-miR-548an	CLIP-seq
MIRT1116359	hsa-miR-562	CLIP-seq
MIRT2562603	hsa-miR-574-5p	CLIP-seq
MIRT1116361	hsa-miR-579	CLIP-seq
MIRT2562604	hsa-miR-642b	CLIP-seq
MIRT2562605	hsa-miR-655	CLIP-seq
MIRT2562606	hsa-miR-656	CLIP-seq
MIRT2562607	hsa-miR-663	CLIP-seq
MIRT1116370	hsa-miR-664	CLIP-seq
MIRT1116371	hsa-miR-668	CLIP-seq
MIRT2562608	hsa-miR-676	CLIP-seq
MIRT2562609	hsa-miR-711	CLIP-seq
MIRT2562610	hsa-miR-769-5p	CLIP-seq
MIRT2390309	hsa-miR-875-3p	CLIP-seq
MIRT2562611	hsa-miR-885-3p	CLIP-seq
MIRT2562612	hsa-miR-889	CLIP-seq
MIRT1116378	hsa-miR-940	CLIP-seq
MIRT1116379	hsa-miR-944	CLIP-seq
MIRT2562553	hsa-miR-10a	CLIP-seq
MIRT2562554	hsa-miR-10b	CLIP-seq
MIRT2562555	hsa-miR-1183	CLIP-seq
MIRT1116259	hsa-miR-122	CLIP-seq
MIRT1116260	hsa-miR-1237	CLIP-seq
MIRT2263176	hsa-miR-1254	CLIP-seq
MIRT1116262	hsa-miR-1286	CLIP-seq
MIRT2562556	hsa-miR-1287	CLIP-seq
MIRT2390302	hsa-miR-1299	CLIP-seq
MIRT1116263	hsa-miR-130a	CLIP-seq
MIRT1116264	hsa-miR-130b	CLIP-seq
MIRT2562557	hsa-miR-1324	CLIP-seq
MIRT2390303	hsa-miR-134	CLIP-seq
MIRT2562559	hsa-miR-1908	CLIP-seq
MIRT2562560	hsa-miR-198	CLIP-seq
MIRT1116269	hsa-miR-199a-3p	CLIP-seq
MIRT1116270	hsa-miR-199b-3p	CLIP-seq
MIRT2263185	hsa-miR-200b	CLIP-seq
MIRT2263186	hsa-miR-200c	CLIP-seq
MIRT1116276	hsa-miR-27a	CLIP-seq
MIRT1116277	hsa-miR-27b	CLIP-seq
MIRT1116279	hsa-miR-301a	CLIP-seq
MIRT1116280	hsa-miR-301b	CLIP-seq
MIRT2263192	hsa-miR-3116	CLIP-seq
MIRT2390304	hsa-miR-3118	CLIP-seq
MIRT2562561	hsa-miR-3127-5p	CLIP-seq
MIRT1116282	hsa-miR-3129-5p	CLIP-seq
MIRT2562562	hsa-miR-3130-3p	CLIP-seq
MIRT1116283	hsa-miR-3135	CLIP-seq
MIRT1116284	hsa-miR-3135b	CLIP-seq
MIRT2390305	hsa-miR-3164	CLIP-seq
MIRT2562563	hsa-miR-3190	CLIP-seq
MIRT2032824	hsa-miR-3194-3p	CLIP-seq
MIRT2562564	hsa-miR-3200-5p	CLIP-seq
MIRT2562565	hsa-miR-339-5p	CLIP-seq
MIRT1116294	hsa-miR-3652	CLIP-seq
MIRT1116296	hsa-miR-3666	CLIP-seq
MIRT2263197	hsa-miR-3672	CLIP-seq
MIRT2562567	hsa-miR-3676	CLIP-seq
MIRT2562568	hsa-miR-3690	CLIP-seq
MIRT2562569	hsa-miR-3691-3p	CLIP-seq
MIRT2562570	hsa-miR-374c	CLIP-seq
MIRT2562572	hsa-miR-3922-5p	CLIP-seq
MIRT2562573	hsa-miR-3936	CLIP-seq
MIRT2390306	hsa-miR-3978	CLIP-seq
MIRT2562574	hsa-miR-4251	CLIP-seq
MIRT1116300	hsa-miR-4269	CLIP-seq
MIRT1116301	hsa-miR-4282	CLIP-seq
MIRT1116302	hsa-miR-4284	CLIP-seq
MIRT2263200	hsa-miR-429	CLIP-seq
MIRT1116303	hsa-miR-4295	CLIP-seq
MIRT1116307	hsa-miR-4323	CLIP-seq
MIRT2562575	hsa-miR-4329	CLIP-seq
MIRT2562577	hsa-miR-4422	CLIP-seq
MIRT1116308	hsa-miR-4430	CLIP-seq
MIRT2562578	hsa-miR-4457	CLIP-seq
MIRT1116310	hsa-miR-4464	CLIP-seq
MIRT2562579	hsa-miR-4477b	CLIP-seq
MIRT2562580	hsa-miR-4480	CLIP-seq
MIRT2562581	hsa-miR-4491	CLIP-seq
MIRT1116314	hsa-miR-4514	CLIP-seq
MIRT1116317	hsa-miR-454	CLIP-seq
MIRT1116319	hsa-miR-4638-5p	CLIP-seq
MIRT2562583	hsa-miR-4649-3p	CLIP-seq
MIRT2562584	hsa-miR-4650-5p	CLIP-seq
MIRT2562585	hsa-miR-4657	CLIP-seq
MIRT1116322	hsa-miR-4671-3p	CLIP-seq
MIRT2562586	hsa-miR-4687-5p	CLIP-seq
MIRT2562587	hsa-miR-4690-5p	CLIP-seq
MIRT1116323	hsa-miR-4692	CLIP-seq
MIRT2562588	hsa-miR-4693-3p	CLIP-seq
MIRT2562589	hsa-miR-4698	CLIP-seq
MIRT2562590	hsa-miR-4706	CLIP-seq
MIRT2684086	hsa-miR-4713-3p	CLIP-seq
MIRT2562591	hsa-miR-4725-5p	CLIP-seq
MIRT1116329	hsa-miR-4727-5p	CLIP-seq
MIRT1116332	hsa-miR-4742-5p	CLIP-seq
MIRT2562592	hsa-miR-4743	CLIP-seq
MIRT1116333	hsa-miR-4748	CLIP-seq
MIRT2562593	hsa-miR-4749-5p	CLIP-seq
MIRT1116334	hsa-miR-4753-3p	CLIP-seq
MIRT1116335	hsa-miR-4753-5p	CLIP-seq
MIRT2562594	hsa-miR-4755-3p	CLIP-seq
MIRT2032830	hsa-miR-4759	CLIP-seq
MIRT1116337	hsa-miR-4772-3p	CLIP-seq
MIRT2390307	hsa-miR-4782-5p	CLIP-seq
MIRT2562596	hsa-miR-4783-3p	CLIP-seq
MIRT2032831	hsa-miR-4793-3p	CLIP-seq
MIRT2562598	hsa-miR-499-3p	CLIP-seq
MIRT2562599	hsa-miR-499a-3p	CLIP-seq
MIRT2562600	hsa-miR-504	CLIP-seq
MIRT1116342	hsa-miR-513a-5p	CLIP-seq
MIRT2390308	hsa-miR-516b	CLIP-seq
MIRT1116345	hsa-miR-518a-5p	CLIP-seq
MIRT1116352	hsa-miR-527	CLIP-seq
MIRT2263209	hsa-miR-545	CLIP-seq
MIRT2562601	hsa-miR-548ag	CLIP-seq
MIRT2562602	hsa-miR-548ai	CLIP-seq
MIRT2562603	hsa-miR-574-5p	CLIP-seq
MIRT2562604	hsa-miR-642b	CLIP-seq
MIRT2562605	hsa-miR-655	CLIP-seq
MIRT2562607	hsa-miR-663	CLIP-seq
MIRT2562608	hsa-miR-676	CLIP-seq
MIRT2562609	hsa-miR-711	CLIP-seq
MIRT2390309	hsa-miR-875-3p	CLIP-seq
MIRT1116378	hsa-miR-940	CLIP-seq
MIRT1116379	hsa-miR-944	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFYA	Unknown	19553673
NFYB	Unknown	19553673
NFYC	Unknown	19553673
SREBF1	Unknown	19553673

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003713	Function	Transcription coactivator activity	IBA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS	11138012
GO:0005635	Component	Nuclear envelope	TAS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005741	Component	Mitochondrial outer membrane	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	29765047
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IDA	29765047
GO:0005829	Component	Cytosol	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006642	Process	Triglyceride mobilization	ISS
GO:0007077	Process	Mitotic nuclear membrane disassembly	TAS
GO:0008195	Function	Phosphatidate phosphatase activity	EXP	18694939
GO:0008195	Function	Phosphatidate phosphatase activity	IBA
GO:0008195	Function	Phosphatidate phosphatase activity	IDA	20231281, 23426360, 29765047, 31695197
GO:0008195	Function	Phosphatidate phosphatase activity	IEA
GO:0009062	Process	Fatty acid catabolic process	IBA
GO:0009062	Process	Fatty acid catabolic process	ISS
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019432	Process	Triglyceride biosynthetic process	IBA
GO:0019432	Process	Triglyceride biosynthetic process	IDA	29765047
GO:0019432	Process	Triglyceride biosynthetic process	TAS
GO:0031100	Process	Animal organ regeneration	IEA
GO:0031642	Process	Negative regulation of myelination	IEA
GO:0031965	Component	Nuclear membrane	IEA
GO:0031965	Component	Nuclear membrane	ISS
GO:0032869	Process	Cellular response to insulin stimulus	IBA
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0046337	Process	Phosphatidylethanolamine metabolic process	IDA	23426360, 31695197
GO:0046473	Process	Phosphatidic acid metabolic process	IDA	20231281
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	23028044
GO:1905694	Process	Negative regulation of phosphatidic acid biosynthetic process	IEA

Other IDs

• MIM: 605518
• HGNC: 13345
• e!Ensembl: ENSG00000134324

Protein

• UniProt ID: Q14693
• Protein name: Phosphatidate phosphatase LPIN1 (EC 3.1.3.4) (Lipin-1)
• Protein function: Acts as a magnesium-dependent phosphatidate phosphatase enzyme which catalyzes the conversion of phosphatidic acid to diacylglycerol during triglyceride, phosphatidylcholine and phosphatidylethanolamine biosynthesis and therefore controls the me
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04571	Lipin_N	1 → 107	lipin, N-terminal conserved region	Family
  PF16876	Lipin_mid	464 → 557	Lipin/Ned1/Smp2 multi-domain protein middle domain	Family
  PF08235	LNS2	626 → 851	LNS2 (Lipin/Ned1/Smp2)	Domain

• Tissue specificity: TISSUE SPECIFICITY: Specifically expressed in skeletal muscle. Also abundant in adipose tissue. Lower levels in some portions of the digestive tract. {ECO:0000269|PubMed:17158099, ECO:0000269|PubMed:22134922}.
• Sequence:

  MNYVGQLAGQVFVTVKELYKGLNPATLSGCIDIIVIRQPNGNLQCSPFHVRFGKMGVLRS
  REKVVDIEINGESVDLHMKLGDNGEAFFVQETDNDQEVIPMHLATSPILSEGASRMECQL
  KRGSVDRMRGLDPSTPAQVIAPSETPSSSSVVKKRRKRRRKSQLDSLKRDDNMNTSEDED
  MFPIEMSSDEAMELLESSRTLPNDIPPFQDDIPEENLSLAVIYPQSASYPNSDREWSPTP
  SPSGSRPSTPKSDSELVSKSTERTGQKNPEMLWLWGELPQAAKSSSPHKMKESSPLSSRK
  ICDKSHFQAIHSESSDTFSDQSPTLVGGALLDQNKPQTEMQFVNEEDLETLGAAAPLLPM
  IEELKPPSASVVQTANKTDSPSRKRDKRSRHLGADGVYLDDLTDMDPEVAALYFPKNGDP
  SGLAKHASDNGARSANQSPQSVGSSGVDSGVESTSDGLRDLPSIAISLCGGLSDHREITK
  DAFLEQAVSYQQFVDNPAIIDDPNLVVKIGSKYYNWTTAAPLLLAMQAFQKPLPKATVES
  IMRDKMPKKGGRWWFSWRGRNTTIKEESKPEQCLAGKAHSTGEQPPQLSLATRVKHESSS
  SDEERAAAKPSNAGHLPLLPNVSYKKTLRLTSEQLKSLKLKNGPNDVVFSVTTQYQGTCR
  CEGTIYLWNWDDKVIISDIDGTITRSDTLGHILPTLGKDWTHQGIAKLYHKVSQNGYKFL
  YCSARAIGMADMTRGYLHWVNERGTVLPQGPLLLSPSSLFSALHREVIEKKPEKFKVQCL
  TDIKNLFFPNTEPFYAAFGNRPADVYSYKQVGVSLNRIFTVNPKGELVQEHAKTNISSYV
  RLCEVVDHVFPLLKRSHSSDFPCSDTFSNFTFWREPLPPFENQDIHSASA

• Sequence length: 890

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
Acute rhabdomyolysis	Pathogenic	rs747835893	RCV005865512	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
LPIN1-related disorder	Likely pathogenic; Pathogenic	rs781748056	RCV004754740	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myoglobinuria, acute recurrent, autosomal recessive	Likely pathogenic; Pathogenic	rs781748056, rs747835893, rs1674723338, rs1678013520, rs533651991, rs119480071, rs119480072, rs119480073, rs730880306, rs778562391, rs886041544, rs1673217321, rs1572931008, rs1572770217	RCV001358672 RCV005014593 RCV001783610 RCV005014699 RCV002497902 RCV000005192 RCV000005193 RCV000005194 RCV000005196 RCV003153140 RCV004782335 RCV005015057 RCV000824909 RCV000995801	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute Recurrent Myoglobinuria	Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN DIGESTIVE SYSTEM NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BENIGN NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC RECURRENT MYOGLOBINURIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperchloremia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	29659171		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	29323242		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27729374		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25834103, 35184130	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	12959682, 30232275		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31162914	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29659171		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	17940119		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	8980181		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	29939786		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30232275, 31351364		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	39596612	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30232275		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	30232275		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	30232275		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19799857, 31757765		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19799857, 31757765		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19543209	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	17950103		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	18693052, 19543209, 19799857, 20356931, 22853689, 23426382, 27344312		★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	BEFREE	30028636		★☆☆☆☆ Found in Text Mining only
Esophageal Achalasia	Esophageal achalasia	Pubtator	34197731	Associate	★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	25300978		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	16950137, 17158099, 18070763		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	18070763, 28717649	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	28467182		★☆☆☆☆ Found in Text Mining only
Fatty Liver, Alcoholic	Alcoholic Fatty Liver	BEFREE	24262277, 26278388		★☆☆☆☆ Found in Text Mining only
Genetic recurrent myoglobinuria	Genetic Myoglobinuria	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatoblastoma	Hepatoblastoma	BEFREE	19553673		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	19553673	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	29217509		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	20356931		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	18437145		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	17035674, 20530740	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	BEFREE	12111372, 16054038, 17158099, 18070763, 18591397, 21715287, 23028044, 27344312, 29323242, 31133852		★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	Pubtator	18070763, 26176221, 28986436	Associate	★☆☆☆☆ Found in Text Mining only
Lipodystrophy Familial Partial	Lipodystrophy	Pubtator	26176221, 28986436	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31162914		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	29659171	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27729374		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29659171		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	25834103		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10780521, 22496117, 25834103, 28347999		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30232275		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	17035674	Inhibit	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	26276647	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	17035674, 17940119		★☆☆☆☆ Found in Text Mining only
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria	CLINGEN_DG	18817903, 20583302, 28986436, 30028636		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria	GENOMICS_ENGLAND_DG	22481384, 25929793, 27604308		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Myopathy	Myopathy	BEFREE	18817903		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27729374, 28347999, 29034212, 30232275, 31162914		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	21715287		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	22157924, 31255630		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	16357106, 17950103, 18437145, 20101248, 20530740, 21803291, 23028044, 28653652		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	17035674, 20530740	Inhibit	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18070763	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36105394	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32096176	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	36918862	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	18829900, 21448847		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	18829900		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25834103	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33596934	Associate	★☆☆☆☆ Found in Text Mining only
RETINITIS PIGMENTOSA 9	Retinitis Pigmentosa	BEFREE	15474994		★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	18817903, 20583302, 28986436, 31723421, 32978841, 33514355	Associate	★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	16950137, 17158099, 18070763, 24262277		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28347999		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28474731	Associate	★☆☆☆☆ Found in Text Mining only
Very long chain acyl-CoA dehydrogenase deficiency	Acyl CoA Dehydrogenase Deficiency	BEFREE	23928362		★☆☆☆☆ Found in Text Mining only