PRICKLE1 (prickle planar cell polarity protein 1)

Gene

• Entrez ID: 144165
• Gene name: Prickle planar cell polarity protein 1
• Gene symbol: PRICKLE1
• Synonyms (NCBI Gene): EPM1B, RILP
• Chromosome: 12
• Chromosome location: 12q12
• Summary: This gene encodes a nuclear receptor that may be a negative regulator of the Wnt/beta-catenin signaling pathway. The encoded protein localizes to the nuclear membrane and has been implicated in the nuclear trafficking of the transcription repressors REST/

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs79087668	C>T	Benign, benign-likely-benign, pathogenic	Coding sequence variant, missense variant
rs113994140	C>T	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs116197349	G>A,C	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, synonymous variant, missense variant
rs138452760	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs141743294	C>T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Synonymous variant, coding sequence variant
rs145493619	G>A,C	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs146650383	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, coding sequence variant
rs149496604	T>C	Benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs150545495	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs281865563	C>T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs281865564	A>G	Pathogenic	Missense variant, coding sequence variant
rs781255236	C>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024610	hsa-miR-215-5p	Microarray	19074876
MIRT026529	hsa-miR-192-5p	Microarray	19074876
MIRT050925	hsa-miR-17-5p	CLASH	23622248
MIRT680736	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT680735	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT680734	hsa-miR-4257	HITS-CLIP	23706177
MIRT680733	hsa-miR-1247-3p	HITS-CLIP	23706177
MIRT680732	hsa-miR-5186	HITS-CLIP	23706177
MIRT680731	hsa-miR-1827	HITS-CLIP	23706177
MIRT680730	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT680729	hsa-miR-6086	HITS-CLIP	23706177
MIRT680728	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT680727	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT680726	hsa-miR-3612	HITS-CLIP	23706177
MIRT680725	hsa-miR-650	HITS-CLIP	23706177
MIRT680724	hsa-miR-203b-3p	HITS-CLIP	23706177
MIRT272927	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT680723	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT654806	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT654805	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT654804	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT654803	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT654802	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT654801	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT630302	hsa-miR-6801-3p	HITS-CLIP	23824327
MIRT630301	hsa-miR-6810-3p	HITS-CLIP	23824327
MIRT630300	hsa-miR-331-3p	HITS-CLIP	23824327
MIRT654800	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT630299	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT630298	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT630297	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT630296	hsa-miR-4284	HITS-CLIP	23824327
MIRT630295	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT654799	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT654798	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT654797	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT654796	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT654795	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT654794	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT654793	hsa-miR-4325	HITS-CLIP	23824327
MIRT630294	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT654792	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT654791	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT654790	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT654789	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT654788	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT654787	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT654786	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT654785	hsa-miR-3689c	HITS-CLIP	23824327
MIRT654784	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT654783	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT654782	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT654781	hsa-miR-3122	HITS-CLIP	23824327
MIRT654780	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT654779	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT654778	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT654777	hsa-miR-665	HITS-CLIP	23824327
MIRT630303	hsa-miR-5693	HITS-CLIP	23824327
MIRT630302	hsa-miR-6801-3p	HITS-CLIP	23824327
MIRT630301	hsa-miR-6810-3p	HITS-CLIP	23824327
MIRT630300	hsa-miR-331-3p	HITS-CLIP	23824327
MIRT630299	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT630298	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT630297	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT630296	hsa-miR-4284	HITS-CLIP	23824327
MIRT630295	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT630294	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT272942	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT566292	hsa-miR-6771-3p	PAR-CLIP	20371350
MIRT566291	hsa-miR-6732-3p	PAR-CLIP	20371350
MIRT566290	hsa-miR-4732-3p	PAR-CLIP	20371350
MIRT566289	hsa-miR-6831-3p	PAR-CLIP	20371350
MIRT485233	hsa-miR-488-5p	PAR-CLIP	23592263
MIRT485232	hsa-miR-6780b-3p	PAR-CLIP	23592263
MIRT485231	hsa-miR-581	PAR-CLIP	23592263
MIRT485230	hsa-miR-92b-5p	PAR-CLIP	23592263
MIRT485229	hsa-miR-4648	PAR-CLIP	23592263
MIRT485228	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT485227	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT485226	hsa-miR-4654	PAR-CLIP	23592263
MIRT485225	hsa-miR-4769-5p	PAR-CLIP	23592263
MIRT485224	hsa-miR-3911	PAR-CLIP	23592263
MIRT485223	hsa-miR-644a	PAR-CLIP	23592263
MIRT485221	hsa-miR-6818-5p	PAR-CLIP	23592263
MIRT485222	hsa-miR-147a	PAR-CLIP	23592263
MIRT485220	hsa-miR-2355-5p	PAR-CLIP	23592263
MIRT680736	hsa-miR-1910-3p	HITS-CLIP	23706177
MIRT680735	hsa-miR-6511a-5p	HITS-CLIP	23706177
MIRT680734	hsa-miR-4257	HITS-CLIP	23706177
MIRT680733	hsa-miR-1247-3p	HITS-CLIP	23706177
MIRT680732	hsa-miR-5186	HITS-CLIP	23706177
MIRT680731	hsa-miR-1827	HITS-CLIP	23706177
MIRT680730	hsa-miR-377-5p	HITS-CLIP	23706177
MIRT680729	hsa-miR-6086	HITS-CLIP	23706177
MIRT680728	hsa-miR-2467-3p	HITS-CLIP	23706177
MIRT680727	hsa-miR-6499-3p	HITS-CLIP	23706177
MIRT680726	hsa-miR-3612	HITS-CLIP	23706177
MIRT680725	hsa-miR-650	HITS-CLIP	23706177
MIRT680724	hsa-miR-203b-3p	HITS-CLIP	23706177
MIRT272927	hsa-miR-455-3p	HITS-CLIP	23706177
MIRT680723	hsa-miR-6516-5p	HITS-CLIP	23706177
MIRT654806	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT654805	hsa-miR-551b-5p	HITS-CLIP	23824327
MIRT654804	hsa-miR-4704-3p	HITS-CLIP	23824327
MIRT654803	hsa-miR-3127-3p	HITS-CLIP	23824327
MIRT654802	hsa-miR-6756-3p	HITS-CLIP	23824327
MIRT654801	hsa-miR-4799-5p	HITS-CLIP	23824327
MIRT630302	hsa-miR-6801-3p	HITS-CLIP	23824327
MIRT630301	hsa-miR-6810-3p	HITS-CLIP	23824327
MIRT630300	hsa-miR-331-3p	HITS-CLIP	23824327
MIRT654800	hsa-miR-4793-3p	HITS-CLIP	23824327
MIRT630299	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT630298	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT630297	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT630296	hsa-miR-4284	HITS-CLIP	23824327
MIRT630295	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT654799	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT654798	hsa-miR-149-3p	HITS-CLIP	23824327
MIRT654797	hsa-miR-4728-5p	HITS-CLIP	23824327
MIRT654796	hsa-miR-6785-5p	HITS-CLIP	23824327
MIRT654795	hsa-miR-6883-5p	HITS-CLIP	23824327
MIRT654794	hsa-miR-6799-5p	HITS-CLIP	23824327
MIRT654793	hsa-miR-4325	HITS-CLIP	23824327
MIRT630294	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT654792	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT654791	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT654790	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT654789	hsa-miR-1273h-5p	HITS-CLIP	23824327
MIRT654788	hsa-miR-30b-3p	HITS-CLIP	23824327
MIRT654787	hsa-miR-3689a-3p	HITS-CLIP	23824327
MIRT654786	hsa-miR-3689b-3p	HITS-CLIP	23824327
MIRT654785	hsa-miR-3689c	HITS-CLIP	23824327
MIRT654784	hsa-miR-6779-5p	HITS-CLIP	23824327
MIRT654783	hsa-miR-6780a-5p	HITS-CLIP	23824327
MIRT654782	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT654781	hsa-miR-3122	HITS-CLIP	23824327
MIRT654780	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT654779	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT654778	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT654777	hsa-miR-665	HITS-CLIP	23824327
MIRT630303	hsa-miR-5693	HITS-CLIP	23824327
MIRT630302	hsa-miR-6801-3p	HITS-CLIP	23824327
MIRT630301	hsa-miR-6810-3p	HITS-CLIP	23824327
MIRT630300	hsa-miR-331-3p	HITS-CLIP	23824327
MIRT630299	hsa-miR-214-5p	HITS-CLIP	23824327
MIRT630298	hsa-miR-6811-3p	HITS-CLIP	23824327
MIRT630297	hsa-miR-6847-3p	HITS-CLIP	23824327
MIRT630296	hsa-miR-4284	HITS-CLIP	23824327
MIRT630295	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT630294	hsa-miR-6514-3p	HITS-CLIP	23824327
MIRT272942	hsa-miR-340-5p	PAR-CLIP	20371350
MIRT566292	hsa-miR-6771-3p	PAR-CLIP	20371350
MIRT566291	hsa-miR-6732-3p	PAR-CLIP	20371350
MIRT566290	hsa-miR-4732-3p	PAR-CLIP	20371350
MIRT566289	hsa-miR-6831-3p	PAR-CLIP	20371350
MIRT485233	hsa-miR-488-5p	PAR-CLIP	23592263
MIRT485232	hsa-miR-6780b-3p	PAR-CLIP	23592263
MIRT485231	hsa-miR-581	PAR-CLIP	23592263
MIRT485230	hsa-miR-92b-5p	PAR-CLIP	23592263
MIRT485229	hsa-miR-4648	PAR-CLIP	23592263
MIRT485228	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT485227	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT485226	hsa-miR-4654	PAR-CLIP	23592263
MIRT485225	hsa-miR-4769-5p	PAR-CLIP	23592263
MIRT485224	hsa-miR-3911	PAR-CLIP	23592263
MIRT485223	hsa-miR-644a	PAR-CLIP	23592263
MIRT485221	hsa-miR-6818-5p	PAR-CLIP	23592263
MIRT485222	hsa-miR-147a	PAR-CLIP	23592263
MIRT485220	hsa-miR-2355-5p	PAR-CLIP	23592263
MIRT1261369	hsa-miR-1207-5p	CLIP-seq
MIRT1261370	hsa-miR-1224-5p	CLIP-seq
MIRT1261371	hsa-miR-1909	CLIP-seq
MIRT1261372	hsa-miR-204	CLIP-seq
MIRT1261373	hsa-miR-211	CLIP-seq
MIRT1261374	hsa-miR-3148	CLIP-seq
MIRT1261375	hsa-miR-3169	CLIP-seq
MIRT1261376	hsa-miR-3915	CLIP-seq
MIRT1261377	hsa-miR-3938	CLIP-seq
MIRT1261378	hsa-miR-4514	CLIP-seq
MIRT1261379	hsa-miR-4515	CLIP-seq
MIRT1261380	hsa-miR-4668-5p	CLIP-seq
MIRT1261381	hsa-miR-4689	CLIP-seq
MIRT1261382	hsa-miR-4692	CLIP-seq
MIRT1261383	hsa-miR-4716-3p	CLIP-seq
MIRT1261384	hsa-miR-4751	CLIP-seq
MIRT1261385	hsa-miR-4755-5p	CLIP-seq
MIRT1261386	hsa-miR-4763-3p	CLIP-seq
MIRT1261387	hsa-miR-4780	CLIP-seq
MIRT1261388	hsa-miR-548aa	CLIP-seq
MIRT1261389	hsa-miR-548ac	CLIP-seq
MIRT1261390	hsa-miR-548d-3p	CLIP-seq
MIRT1261391	hsa-miR-548z	CLIP-seq
MIRT1261392	hsa-miR-623	CLIP-seq
MIRT1261393	hsa-miR-625	CLIP-seq
MIRT1261394	hsa-miR-875-3p	CLIP-seq
MIRT1261395	hsa-miR-940	CLIP-seq
MIRT1261396	hsa-miR-101	CLIP-seq
MIRT1261397	hsa-miR-144	CLIP-seq
MIRT1261398	hsa-miR-323-3p	CLIP-seq
MIRT1261399	hsa-miR-3545-3p	CLIP-seq
MIRT1261400	hsa-miR-3652	CLIP-seq
MIRT1261401	hsa-miR-4430	CLIP-seq
MIRT1261402	hsa-miR-4473	CLIP-seq
MIRT1261403	hsa-miR-4505	CLIP-seq
MIRT1261404	hsa-miR-4539	CLIP-seq
MIRT1261405	hsa-miR-4704-5p	CLIP-seq
MIRT1261406	hsa-miR-4803	CLIP-seq
MIRT1261407	hsa-miR-512-3p	CLIP-seq
MIRT1261408	hsa-miR-520d-5p	CLIP-seq
MIRT1261409	hsa-miR-520f	CLIP-seq
MIRT1261410	hsa-miR-524-5p	CLIP-seq
MIRT1261411	hsa-miR-767-5p	CLIP-seq
MIRT1552560	hsa-miR-4310	CLIP-seq
MIRT2076900	hsa-miR-4477a	CLIP-seq
MIRT2076901	hsa-miR-595	CLIP-seq
MIRT2303551	hsa-miR-4328	CLIP-seq
MIRT1261396	hsa-miR-101	CLIP-seq
MIRT1261397	hsa-miR-144	CLIP-seq
MIRT2432258	hsa-miR-147	CLIP-seq
MIRT1261398	hsa-miR-323-3p	CLIP-seq
MIRT1261399	hsa-miR-3545-3p	CLIP-seq
MIRT1261404	hsa-miR-4539	CLIP-seq
MIRT2432259	hsa-miR-4685-5p	CLIP-seq
MIRT2432260	hsa-miR-4729	CLIP-seq
MIRT2432261	hsa-miR-4789-5p	CLIP-seq
MIRT2432262	hsa-miR-507	CLIP-seq
MIRT2432263	hsa-miR-557	CLIP-seq
MIRT2432264	hsa-miR-582-5p	CLIP-seq
MIRT2432265	hsa-miR-644	CLIP-seq
MIRT2432266	hsa-miR-889	CLIP-seq
MIRT1261396	hsa-miR-101	CLIP-seq
MIRT2600143	hsa-miR-103b	CLIP-seq
MIRT2600144	hsa-miR-105	CLIP-seq
MIRT1261370	hsa-miR-1224-5p	CLIP-seq
MIRT2600145	hsa-miR-1228	CLIP-seq
MIRT2600146	hsa-miR-124	CLIP-seq
MIRT2600147	hsa-miR-1270	CLIP-seq
MIRT2600148	hsa-miR-1273e	CLIP-seq
MIRT2600149	hsa-miR-1279	CLIP-seq
MIRT2600150	hsa-miR-128	CLIP-seq
MIRT2600151	hsa-miR-1305	CLIP-seq
MIRT2600152	hsa-miR-136	CLIP-seq
MIRT1261397	hsa-miR-144	CLIP-seq
MIRT2432258	hsa-miR-147	CLIP-seq
MIRT2600153	hsa-miR-183	CLIP-seq
MIRT1261372	hsa-miR-204	CLIP-seq
MIRT2600154	hsa-miR-2053	CLIP-seq
MIRT1261373	hsa-miR-211	CLIP-seq
MIRT2600155	hsa-miR-302f	CLIP-seq
MIRT2600156	hsa-miR-3064-3p	CLIP-seq
MIRT2600157	hsa-miR-3065-5p	CLIP-seq
MIRT2600158	hsa-miR-30a	CLIP-seq
MIRT2600159	hsa-miR-30b	CLIP-seq
MIRT2600160	hsa-miR-30c	CLIP-seq
MIRT2600161	hsa-miR-30d	CLIP-seq
MIRT2600162	hsa-miR-30e	CLIP-seq
MIRT2600163	hsa-miR-3117-5p	CLIP-seq
MIRT2600164	hsa-miR-3124-3p	CLIP-seq
MIRT2600165	hsa-miR-3130-5p	CLIP-seq
MIRT2600166	hsa-miR-3135b	CLIP-seq
MIRT1261374	hsa-miR-3148	CLIP-seq
MIRT2600167	hsa-miR-3152-3p	CLIP-seq
MIRT1261375	hsa-miR-3169	CLIP-seq
MIRT2600168	hsa-miR-3176	CLIP-seq
MIRT2600169	hsa-miR-3200-3p	CLIP-seq
MIRT2600170	hsa-miR-320e	CLIP-seq
MIRT2600171	hsa-miR-330-3p	CLIP-seq
MIRT2600172	hsa-miR-338-5p	CLIP-seq
MIRT2600173	hsa-miR-34c-3p	CLIP-seq
MIRT2600174	hsa-miR-3607-3p	CLIP-seq
MIRT2600175	hsa-miR-3613-3p	CLIP-seq
MIRT2600176	hsa-miR-3622a-5p	CLIP-seq
MIRT2600177	hsa-miR-3647-3p	CLIP-seq
MIRT2600178	hsa-miR-3651	CLIP-seq
MIRT1261400	hsa-miR-3652	CLIP-seq
MIRT2600179	hsa-miR-3662	CLIP-seq
MIRT2600180	hsa-miR-3667-5p	CLIP-seq
MIRT2600181	hsa-miR-3671	CLIP-seq
MIRT2600182	hsa-miR-3685	CLIP-seq
MIRT2600183	hsa-miR-376c	CLIP-seq
MIRT2600184	hsa-miR-384	CLIP-seq
MIRT1261376	hsa-miR-3915	CLIP-seq
MIRT2600185	hsa-miR-3922-3p	CLIP-seq
MIRT2600186	hsa-miR-3926	CLIP-seq
MIRT1261377	hsa-miR-3938	CLIP-seq
MIRT2600187	hsa-miR-3942-3p	CLIP-seq
MIRT2600188	hsa-miR-3943	CLIP-seq
MIRT2600189	hsa-miR-3978	CLIP-seq
MIRT1552560	hsa-miR-4310	CLIP-seq
MIRT2600190	hsa-miR-4323	CLIP-seq
MIRT2303551	hsa-miR-4328	CLIP-seq
MIRT2600191	hsa-miR-4426	CLIP-seq
MIRT1261401	hsa-miR-4430	CLIP-seq
MIRT2600192	hsa-miR-4434	CLIP-seq
MIRT2600193	hsa-miR-4452	CLIP-seq
MIRT1261402	hsa-miR-4473	CLIP-seq
MIRT2600194	hsa-miR-4482	CLIP-seq
MIRT2600195	hsa-miR-4484	CLIP-seq
MIRT2600196	hsa-miR-4496	CLIP-seq
MIRT1261403	hsa-miR-4505	CLIP-seq
MIRT1261379	hsa-miR-4515	CLIP-seq
MIRT2600197	hsa-miR-4516	CLIP-seq
MIRT2600198	hsa-miR-4531	CLIP-seq
MIRT2600199	hsa-miR-4537	CLIP-seq
MIRT2600200	hsa-miR-4647	CLIP-seq
MIRT2600201	hsa-miR-4653-3p	CLIP-seq
MIRT2600202	hsa-miR-4662b	CLIP-seq
MIRT2600203	hsa-miR-4666-3p	CLIP-seq
MIRT2600204	hsa-miR-4666-5p	CLIP-seq
MIRT2432259	hsa-miR-4685-5p	CLIP-seq
MIRT2600205	hsa-miR-4686	CLIP-seq
MIRT1261381	hsa-miR-4689	CLIP-seq
MIRT2600206	hsa-miR-4698	CLIP-seq
MIRT1261405	hsa-miR-4704-5p	CLIP-seq
MIRT2432260	hsa-miR-4729	CLIP-seq
MIRT2600207	hsa-miR-4735-5p	CLIP-seq
MIRT1261384	hsa-miR-4751	CLIP-seq
MIRT2600208	hsa-miR-4753-5p	CLIP-seq
MIRT1261385	hsa-miR-4755-5p	CLIP-seq
MIRT2600209	hsa-miR-4757-5p	CLIP-seq
MIRT2600210	hsa-miR-4758-3p	CLIP-seq
MIRT1261387	hsa-miR-4780	CLIP-seq
MIRT2432261	hsa-miR-4789-5p	CLIP-seq
MIRT2600211	hsa-miR-4797-5p	CLIP-seq
MIRT2600212	hsa-miR-4802-3p	CLIP-seq
MIRT1261406	hsa-miR-4803	CLIP-seq
MIRT2600213	hsa-miR-494	CLIP-seq
MIRT2600214	hsa-miR-502-5p	CLIP-seq
MIRT2600215	hsa-miR-506	CLIP-seq
MIRT2600216	hsa-miR-5096	CLIP-seq
MIRT1261407	hsa-miR-512-3p	CLIP-seq
MIRT2600217	hsa-miR-513b	CLIP-seq
MIRT2600218	hsa-miR-515-5p	CLIP-seq
MIRT1261408	hsa-miR-520d-5p	CLIP-seq
MIRT1261409	hsa-miR-520f	CLIP-seq
MIRT1261410	hsa-miR-524-5p	CLIP-seq
MIRT2600219	hsa-miR-539	CLIP-seq
MIRT1261388	hsa-miR-548aa	CLIP-seq
MIRT2600220	hsa-miR-548an	CLIP-seq
MIRT2600221	hsa-miR-548c-3p	CLIP-seq
MIRT2600222	hsa-miR-548s	CLIP-seq
MIRT2600223	hsa-miR-569	CLIP-seq
MIRT2432264	hsa-miR-582-5p	CLIP-seq
MIRT2600224	hsa-miR-583	CLIP-seq
MIRT2600225	hsa-miR-587	CLIP-seq
MIRT2600226	hsa-miR-600	CLIP-seq
MIRT2600227	hsa-miR-607	CLIP-seq
MIRT2600228	hsa-miR-616	CLIP-seq
MIRT2600229	hsa-miR-619	CLIP-seq
MIRT2600230	hsa-miR-620	CLIP-seq
MIRT1261392	hsa-miR-623	CLIP-seq
MIRT2600231	hsa-miR-628-5p	CLIP-seq
MIRT2432265	hsa-miR-644	CLIP-seq
MIRT2600232	hsa-miR-646	CLIP-seq
MIRT2600233	hsa-miR-659	CLIP-seq
MIRT2600234	hsa-miR-767-3p	CLIP-seq
MIRT1261411	hsa-miR-767-5p	CLIP-seq
MIRT2600235	hsa-miR-802	CLIP-seq
MIRT1261394	hsa-miR-875-3p	CLIP-seq
MIRT2600236	hsa-miR-888	CLIP-seq
MIRT2432266	hsa-miR-889	CLIP-seq
MIRT1261396	hsa-miR-101	CLIP-seq
MIRT2600143	hsa-miR-103b	CLIP-seq
MIRT2600144	hsa-miR-105	CLIP-seq
MIRT1261369	hsa-miR-1207-5p	CLIP-seq
MIRT1261370	hsa-miR-1224-5p	CLIP-seq
MIRT2600145	hsa-miR-1228	CLIP-seq
MIRT2600146	hsa-miR-124	CLIP-seq
MIRT2688564	hsa-miR-1252	CLIP-seq
MIRT2600147	hsa-miR-1270	CLIP-seq
MIRT2600148	hsa-miR-1273e	CLIP-seq
MIRT2600149	hsa-miR-1279	CLIP-seq
MIRT2600150	hsa-miR-128	CLIP-seq
MIRT2688565	hsa-miR-1296	CLIP-seq
MIRT2600151	hsa-miR-1305	CLIP-seq
MIRT2600152	hsa-miR-136	CLIP-seq
MIRT2688566	hsa-miR-141	CLIP-seq
MIRT1261397	hsa-miR-144	CLIP-seq
MIRT2432258	hsa-miR-147	CLIP-seq
MIRT2600153	hsa-miR-183	CLIP-seq
MIRT1261371	hsa-miR-1909	CLIP-seq
MIRT2688567	hsa-miR-200a	CLIP-seq
MIRT1261372	hsa-miR-204	CLIP-seq
MIRT2600154	hsa-miR-2053	CLIP-seq
MIRT1261373	hsa-miR-211	CLIP-seq
MIRT2600155	hsa-miR-302f	CLIP-seq
MIRT2600156	hsa-miR-3064-3p	CLIP-seq
MIRT2600157	hsa-miR-3065-5p	CLIP-seq
MIRT2600158	hsa-miR-30a	CLIP-seq
MIRT2600159	hsa-miR-30b	CLIP-seq
MIRT2600160	hsa-miR-30c	CLIP-seq
MIRT2600161	hsa-miR-30d	CLIP-seq
MIRT2600162	hsa-miR-30e	CLIP-seq
MIRT2600163	hsa-miR-3117-5p	CLIP-seq
MIRT2600164	hsa-miR-3124-3p	CLIP-seq
MIRT2600165	hsa-miR-3130-5p	CLIP-seq
MIRT2600166	hsa-miR-3135b	CLIP-seq
MIRT1261374	hsa-miR-3148	CLIP-seq
MIRT2600167	hsa-miR-3152-3p	CLIP-seq
MIRT1261375	hsa-miR-3169	CLIP-seq
MIRT2600168	hsa-miR-3176	CLIP-seq
MIRT2600169	hsa-miR-3200-3p	CLIP-seq
MIRT2600170	hsa-miR-320e	CLIP-seq
MIRT2600171	hsa-miR-330-3p	CLIP-seq
MIRT2600172	hsa-miR-338-5p	CLIP-seq
MIRT2600174	hsa-miR-3607-3p	CLIP-seq
MIRT2600175	hsa-miR-3613-3p	CLIP-seq
MIRT2600176	hsa-miR-3622a-5p	CLIP-seq
MIRT2600177	hsa-miR-3647-3p	CLIP-seq
MIRT2600178	hsa-miR-3651	CLIP-seq
MIRT1261400	hsa-miR-3652	CLIP-seq
MIRT2600179	hsa-miR-3662	CLIP-seq
MIRT2600180	hsa-miR-3667-5p	CLIP-seq
MIRT2600181	hsa-miR-3671	CLIP-seq
MIRT2600182	hsa-miR-3685	CLIP-seq
MIRT2688568	hsa-miR-3686	CLIP-seq
MIRT2600183	hsa-miR-376c	CLIP-seq
MIRT2600184	hsa-miR-384	CLIP-seq
MIRT1261376	hsa-miR-3915	CLIP-seq
MIRT2600185	hsa-miR-3922-3p	CLIP-seq
MIRT2600186	hsa-miR-3926	CLIP-seq
MIRT1261377	hsa-miR-3938	CLIP-seq
MIRT2600187	hsa-miR-3942-3p	CLIP-seq
MIRT2600188	hsa-miR-3943	CLIP-seq
MIRT2600189	hsa-miR-3978	CLIP-seq
MIRT1552560	hsa-miR-4310	CLIP-seq
MIRT2600190	hsa-miR-4323	CLIP-seq
MIRT2303551	hsa-miR-4328	CLIP-seq
MIRT2600191	hsa-miR-4426	CLIP-seq
MIRT1261401	hsa-miR-4430	CLIP-seq
MIRT2600192	hsa-miR-4434	CLIP-seq
MIRT2600193	hsa-miR-4452	CLIP-seq
MIRT2688569	hsa-miR-4460	CLIP-seq
MIRT1261402	hsa-miR-4473	CLIP-seq
MIRT2600194	hsa-miR-4482	CLIP-seq
MIRT2600195	hsa-miR-4484	CLIP-seq
MIRT2600196	hsa-miR-4496	CLIP-seq
MIRT1261403	hsa-miR-4505	CLIP-seq
MIRT2688570	hsa-miR-4512	CLIP-seq
MIRT1261378	hsa-miR-4514	CLIP-seq
MIRT1261379	hsa-miR-4515	CLIP-seq
MIRT2600197	hsa-miR-4516	CLIP-seq
MIRT2600198	hsa-miR-4531	CLIP-seq
MIRT2688571	hsa-miR-4533	CLIP-seq
MIRT2600199	hsa-miR-4537	CLIP-seq
MIRT2600200	hsa-miR-4647	CLIP-seq
MIRT2600201	hsa-miR-4653-3p	CLIP-seq
MIRT2600202	hsa-miR-4662b	CLIP-seq
MIRT2600203	hsa-miR-4666-3p	CLIP-seq
MIRT2600204	hsa-miR-4666-5p	CLIP-seq
MIRT2432259	hsa-miR-4685-5p	CLIP-seq
MIRT2600205	hsa-miR-4686	CLIP-seq
MIRT1261381	hsa-miR-4689	CLIP-seq
MIRT1261382	hsa-miR-4692	CLIP-seq
MIRT2600206	hsa-miR-4698	CLIP-seq
MIRT1261405	hsa-miR-4704-5p	CLIP-seq
MIRT2688572	hsa-miR-4727-3p	CLIP-seq
MIRT2432260	hsa-miR-4729	CLIP-seq
MIRT2600207	hsa-miR-4735-5p	CLIP-seq
MIRT2688573	hsa-miR-4747-5p	CLIP-seq
MIRT1261384	hsa-miR-4751	CLIP-seq
MIRT2600208	hsa-miR-4753-5p	CLIP-seq
MIRT1261385	hsa-miR-4755-5p	CLIP-seq
MIRT2600209	hsa-miR-4757-5p	CLIP-seq
MIRT2600210	hsa-miR-4758-3p	CLIP-seq
MIRT1261386	hsa-miR-4763-3p	CLIP-seq
MIRT1261387	hsa-miR-4780	CLIP-seq
MIRT2432261	hsa-miR-4789-5p	CLIP-seq
MIRT2600211	hsa-miR-4797-5p	CLIP-seq
MIRT2600212	hsa-miR-4802-3p	CLIP-seq
MIRT1261406	hsa-miR-4803	CLIP-seq
MIRT2600213	hsa-miR-494	CLIP-seq
MIRT2600214	hsa-miR-502-5p	CLIP-seq
MIRT2600215	hsa-miR-506	CLIP-seq
MIRT2600216	hsa-miR-5096	CLIP-seq
MIRT1261407	hsa-miR-512-3p	CLIP-seq
MIRT2600217	hsa-miR-513b	CLIP-seq
MIRT2600218	hsa-miR-515-5p	CLIP-seq
MIRT1261408	hsa-miR-520d-5p	CLIP-seq
MIRT1261409	hsa-miR-520f	CLIP-seq
MIRT1261410	hsa-miR-524-5p	CLIP-seq
MIRT2600219	hsa-miR-539	CLIP-seq
MIRT2688574	hsa-miR-542-3p	CLIP-seq
MIRT1261388	hsa-miR-548aa	CLIP-seq
MIRT2600220	hsa-miR-548an	CLIP-seq
MIRT2600221	hsa-miR-548c-3p	CLIP-seq
MIRT2600222	hsa-miR-548s	CLIP-seq
MIRT2600223	hsa-miR-569	CLIP-seq
MIRT2432264	hsa-miR-582-5p	CLIP-seq
MIRT2600224	hsa-miR-583	CLIP-seq
MIRT2600226	hsa-miR-600	CLIP-seq
MIRT2600227	hsa-miR-607	CLIP-seq
MIRT2600228	hsa-miR-616	CLIP-seq
MIRT2600229	hsa-miR-619	CLIP-seq
MIRT2600230	hsa-miR-620	CLIP-seq
MIRT1261392	hsa-miR-623	CLIP-seq
MIRT2600231	hsa-miR-628-5p	CLIP-seq
MIRT2688575	hsa-miR-633	CLIP-seq
MIRT2432265	hsa-miR-644	CLIP-seq
MIRT2600232	hsa-miR-646	CLIP-seq
MIRT2600233	hsa-miR-659	CLIP-seq
MIRT2600234	hsa-miR-767-3p	CLIP-seq
MIRT1261411	hsa-miR-767-5p	CLIP-seq
MIRT2600235	hsa-miR-802	CLIP-seq
MIRT1261394	hsa-miR-875-3p	CLIP-seq
MIRT2600236	hsa-miR-888	CLIP-seq
MIRT2432266	hsa-miR-889	CLIP-seq
MIRT1261395	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	IEA
GO:0001843	Process	Neural tube closure	IEA
GO:0001843	Process	Neural tube closure	IMP	21901791
GO:0001894	Process	Tissue homeostasis	IEA
GO:0003151	Process	Outflow tract morphogenesis	IEA
GO:0005515	Function	Protein binding	IPI	14645515, 16417580, 16442230, 17030191, 18922795, 18976727, 25416956, 25910212, 32296183
GO:0005634	Component	Nucleus	IDA	14645515, 16417580, 18922795
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA	14645515, 18922795
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006606	Process	Protein import into nucleus	IDA	21199191
GO:0006606	Process	Protein import into nucleus	IMP	14645515, 16417580
GO:0006915	Process	Apoptotic process	IEA
GO:0007010	Process	Cytoskeleton organization	IEA
GO:0007163	Process	Establishment or maintenance of cell polarity	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IEA
GO:0007409	Process	Axonogenesis	IEA
GO:0007507	Process	Heart development	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009887	Process	Animal organ morphogenesis	IEA
GO:0009888	Process	Tissue development	IEA
GO:0010467	Process	Gene expression	IEA
GO:0012501	Process	Programmed cell death	IEA
GO:0014069	Component	Postsynaptic density	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0016358	Process	Dendrite development	IEA
GO:0016477	Process	Cell migration	IEA
GO:0030010	Process	Establishment of cell polarity	IEA
GO:0030282	Process	Bone mineralization	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030705	Process	Cytoskeleton-dependent intracellular transport	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0031254	Component	Cell trailing edge	IEA
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	17030191
GO:0031965	Component	Nuclear membrane	IDA	14645515, 16417580
GO:0031965	Component	Nuclear membrane	IEA
GO:0032436	Process	Positive regulation of proteasomal ubiquitin-dependent protein catabolic process	IDA	17030191
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035880	Process	Embryonic nail plate morphogenesis	IEA
GO:0035904	Process	Aorta development	IEA
GO:0036342	Process	Post-anal tail morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0044782	Process	Cilium organization	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0045184	Process	Establishment of protein localization	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	17030191
GO:0046872	Function	Metal ion binding	IEA
GO:0048812	Process	Neuron projection morphogenesis	IEA
GO:0051602	Process	Response to electrical stimulus	IEA
GO:0055013	Process	Cardiac muscle cell development	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	IEA
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	NAS	24431302
GO:0060173	Process	Limb development	IEA
GO:0060271	Process	Cilium assembly	IEA
GO:0060325	Process	Face morphogenesis	IEA
GO:0060485	Process	Mesenchyme development	IEA
GO:0060976	Process	Coronary vasculature development	IEA
GO:0061029	Process	Eyelid development in camera-type eye	IEA
GO:0061159	Process	Establishment of bipolar cell polarity involved in cell morphogenesis	IEA
GO:0061303	Process	Cornea development in camera-type eye	IEA
GO:0061326	Process	Renal tubule development	IEA
GO:0061865	Process	Polarized secretion of basement membrane proteins in epithelium	IEA
GO:0070075	Process	Tear secretion	IEA
GO:0071711	Process	Basement membrane organization	IEA
GO:0085029	Process	Extracellular matrix assembly	IEA
GO:0090009	Process	Primitive streak formation	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IDA	17030191
GO:0090307	Process	Mitotic spindle assembly	IEA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099151	Process	Regulation of postsynaptic density assembly	IEA
GO:0099562	Process	Maintenance of postsynaptic density structure	IEA
GO:0120181	Process	Focal adhesion disassembly	IEA
GO:1905070	Process	Anterior visceral endoderm cell migration	IEA
GO:1990138	Process	Neuron projection extension	IEA
GO:1990403	Process	Embryonic brain development	IEA
GO:2000691	Process	Negative regulation of cardiac muscle cell myoblast differentiation	IDA	21199191

Other IDs

• MIM: 608500
• HGNC: 17019
• e!Ensembl: ENSG00000139174

Protein

• UniProt ID: Q96MT3
• Protein name: Prickle-like protein 1 (REST/NRSF-interacting LIM domain protein 1)
• Protein function: Involved in the planar cell polarity pathway that controls convergent extension during gastrulation and neural tube closure. Convergent extension is a complex morphogenetic process during which cells elongate, move mediolaterally, and intercalat
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF06297	PET	31 → 115	PET Domain	Domain
  PF00412	LIM	126 → 186	LIM domain	Domain
  PF00412	LIM	191 → 247	LIM domain	Domain
  PF00412	LIM	251 → 309	LIM domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed at highest levels in placenta and at lower levels in lung, liver, kidney and pancreas. Expressed in thalamus, hippocampus, cerebral cortex, and cerebellum (in neurons rather than glia). {ECO:0000269|PubMed:12525887, ECO:00002
• Sequence:

  MPLEMEPKMSKLAFGCQRSSTSDDDSGCALEEYAWVPPGLRPEQIQLYFACLPEEKVPYV
  NSPGEKHRIKQLLYQLPPHDNEVRYCQSLSEEEKKELQVFSAQRKKEALGRGTIKLLSRA
  VMHAVCEQCGLKINGGEVAVFASRAGPGVCWHPSCFVCFTCNELLVDLIYFYQDGKIHCG
  RHHAELLKPRCSACDEIIFADECTEAEGRHWHMKHFCCLECETVLGGQRYIMKDGRPFCC
  GCFESLYAEYCETCGEHIGVDHAQMTYDGQHWHATEACFSCAQCKASLLGCPFLPKQGQI
  YCSKTCSLGEDVHASDSSDSAFQSARSRDSRRSVRMGKSSRSADQCRQSLLLSPALNYKF
  PGLSGNADDTLSRKLDDLSLSRQGTSFASEEFWKGRVEQETPEDPEEWADHEDYMTQLLL
  KFGDKSLFQPQPNEMDIRASEHWISDNMVKSKTELKQNNQSLASKKYQSDMYWAQSQDGL
  GDSAYGSHPGPASSRRLQELELDHGASGYNHDETQWYEDSLECLSDLKPEQSVRDSMDSL
  ALSNITGASVDGENKPRPSLYSLQNFEEMETEDCEKMSNMGTLNSSMLHRSAESLKSLSS
  ELCPEKILPEEKPVHLPVLRRSKSQSRPQQVKFSDDVIDNGNYDIEIRQPPMSERTRRRV
  YNFEERGSRSHHHRRRRSRKSRSDNALNLVTERKYSPKDRLRLYTPDNYEKFIQNKSARE
  IQAYIQNADLYGQYAHATSDYGLQNPGMNRFLGLYGEDDDSWCSSSSSSSDSEEEGYFLG
  QPIPQPRPQRFAYYTDDLSSPPSALPTPQFGQRTTKSKKKKGHKGKNCIIS

• Sequence length: 831

Pathways

KEGG:

Wnt signaling pathway

Reactome:

Asymmetric localization of PCP proteins

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
Epilepsy, progressive myoclonic, 1B	Likely pathogenic; Pathogenic	rs113994140, rs281865564	RCV000002373 RCV000023708	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arthrogryposis multiplex congenita	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY	—	ClinGen, Disgenet ClinGen, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EPILEPSY, ROLANDIC	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fetal akinesia deformation sequence 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAVES DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HASHIMOTO'S THYROIDITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MULTIPLE SCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENA-SHOKEIR SYNDROME TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRICKLE1-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE MYOCLONIC EPILEPSY TYPE 1	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROGRESSIVE MYOCLONUS EPILEPSY	—	ClinGen, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Seizure	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Self-limited epilepsy with centrotemporal spikes	Benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNVERRICHT-LUNDBORG SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	-	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign; -	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	26727662		★☆☆☆☆ Found in Text Mining only
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	26727662	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis renal dysfunction cholestasis syndrome	Arthrogryposis-renal dysfunction-cholestasis syndrome	Pubtator	26463206	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	18976727	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	29790814	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	24312498, 29790814		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	40597885	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26939613, 27184734, 28735522	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	27245242	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	27245242	Associate	★☆☆☆☆ Found in Text Mining only
Cystinosis	Cystinosis	BEFREE	28465352		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	28935237		★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	29790814	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19252133	Associate	★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	26727662, 29790814	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	18976727, 24312498, 26727662, 29790814, 30564977		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Epilepsy	Pubtator	18976727, 26727662, 29790814	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epileptic drop attack	Hypotonic seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	30345727		★☆☆☆☆ Found in Text Mining only
Generalized myoclonic seizures	Myoclonic Seizures	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	29790814		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	GWASDB_DG	22922229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Graves Disease	Graves Disease	GWASCAT_DG	22922229		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart Diseases	BEFREE	30564977		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	34001134	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17030191, 25893304		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17030191		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	28735522	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	17030191		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	26939613, 29107170		★☆☆☆☆ Found in Text Mining only
Meningomyelocele	Meningomyelocele	BEFREE	23024041		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	18976727, 30564977		★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsy	Myoclonic Epilepsy	BEFREE	26727662, 29790814		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	17030191		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	31035234	Associate	★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	21901791, 25253865		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22218901, 27036398		★☆☆☆☆ Found in Text Mining only
Papillary craniopharyngioma	Papillary Craniopharyngioma	BEFREE	28837644		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	29790814		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	BEFREE	26727662		★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	26727662	Associate	★☆☆☆☆ Found in Text Mining only
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia	Proteasome-associated autoinflammatory syndrome	UNIPROT_DG	18976727, 21276947		★☆☆☆☆ Found in Text Mining only
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia	Proteasome-associated autoinflammatory syndrome	GENOMICS_ENGLAND_DG	21276947		★☆☆☆☆ Found in Text Mining only
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia	Proteasome-associated autoinflammatory syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia	Proteasome-associated autoinflammatory syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASDB_DG	21399635		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30702489, 39259065	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30971775		★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg disease	Myoclonic Epilepsy	Orphanet			★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	15634728, 31035234		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	ORPHANET_DG	18976727		★★☆☆☆ Found in Text Mining + Unknown/Other Associations