INTU (inturned planar cell polarity protein)

Gene

• Entrez ID: 27152
• Gene name: Inturned planar cell polarity protein
• Gene symbol: INTU
• Synonyms (NCBI Gene): CPLANE4, INT, OFD17, PDZD6, PDZK6, SRTD20
• Chromosome: 4
• Chromosome location: 4q28.1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs150681845	G>A	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs373900644	C>G,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, stop gained, 5 prime UTR variant, upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs1037828930	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant, genic upstream transcript variant, non coding transcript variant
rs1360128571	A>C	Likely-pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, non coding transcript variant, missense variant, downstream transcript variant
rs1553970289	T>-	Likely-pathogenic, pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT522986	hsa-miR-8485	HITS-CLIP	21572407
MIRT522987	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT522985	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT522984	hsa-miR-603	HITS-CLIP	21572407
MIRT509527	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT522983	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT522982	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT522981	hsa-miR-3941	HITS-CLIP	21572407
MIRT522980	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT522979	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT657175	hsa-miR-562	HITS-CLIP	23824327
MIRT657173	hsa-miR-5697	HITS-CLIP	23824327
MIRT499582	hsa-miR-4742-5p	HITS-CLIP	23824327
MIRT499580	hsa-miR-4269	HITS-CLIP	23824327
MIRT499579	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT499578	hsa-miR-4514	HITS-CLIP	23824327
MIRT499577	hsa-miR-4692	HITS-CLIP	23824327
MIRT677107	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT657172	hsa-miR-3199	HITS-CLIP	23824327
MIRT657171	hsa-miR-8052	HITS-CLIP	23824327
MIRT657170	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT657169	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT663649	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT663648	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT663647	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT663646	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT663645	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT663644	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT663643	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT623619	hsa-miR-4282	HITS-CLIP	23824327
MIRT623618	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT499581	hsa-miR-4272	HITS-CLIP	23824327
MIRT623616	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT623615	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT623614	hsa-miR-421	HITS-CLIP	23824327
MIRT623613	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT657175	hsa-miR-562	HITS-CLIP	23824327
MIRT657174	hsa-miR-8062	HITS-CLIP	23824327
MIRT657173	hsa-miR-5697	HITS-CLIP	23824327
MIRT499582	hsa-miR-4742-5p	HITS-CLIP	23824327
MIRT499580	hsa-miR-4269	HITS-CLIP	23824327
MIRT499579	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT499578	hsa-miR-4514	HITS-CLIP	23824327
MIRT499577	hsa-miR-4692	HITS-CLIP	23824327
MIRT657172	hsa-miR-3199	HITS-CLIP	23824327
MIRT657171	hsa-miR-8052	HITS-CLIP	23824327
MIRT657170	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT657169	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT623619	hsa-miR-4282	HITS-CLIP	23824327
MIRT623618	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT499581	hsa-miR-4272	HITS-CLIP	23824327
MIRT623617	hsa-miR-95-5p	HITS-CLIP	23824327
MIRT623616	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT623615	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT623614	hsa-miR-421	HITS-CLIP	23824327
MIRT623613	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT509530	hsa-miR-3133	PAR-CLIP	20371350
MIRT509529	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT509527	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT509528	hsa-miR-4643	PAR-CLIP	20371350
MIRT509526	hsa-miR-1243	PAR-CLIP	20371350
MIRT509525	hsa-miR-4499	PAR-CLIP	20371350
MIRT509524	hsa-miR-4463	PAR-CLIP	20371350
MIRT509523	hsa-miR-4536-5p	PAR-CLIP	20371350
MIRT509522	hsa-miR-466	PAR-CLIP	20371350
MIRT509521	hsa-miR-151a-3p	PAR-CLIP	20371350
MIRT574010	hsa-miR-1261	PAR-CLIP	20371350
MIRT509520	hsa-miR-150-3p	PAR-CLIP	20371350
MIRT509530	hsa-miR-3133	PAR-CLIP	20371350
MIRT509529	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT509527	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT509528	hsa-miR-4643	PAR-CLIP	20371350
MIRT509526	hsa-miR-1243	PAR-CLIP	20371350
MIRT509525	hsa-miR-4499	PAR-CLIP	20371350
MIRT509524	hsa-miR-4463	PAR-CLIP	20371350
MIRT522988	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT522989	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT509523	hsa-miR-4536-5p	PAR-CLIP	20371350
MIRT509522	hsa-miR-466	PAR-CLIP	20371350
MIRT509521	hsa-miR-151a-3p	PAR-CLIP	20371350
MIRT509520	hsa-miR-150-3p	PAR-CLIP	20371350
MIRT509530	hsa-miR-3133	PAR-CLIP	20371350
MIRT509529	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT509526	hsa-miR-1243	PAR-CLIP	20371350
MIRT509525	hsa-miR-4499	PAR-CLIP	20371350
MIRT509524	hsa-miR-4463	PAR-CLIP	20371350
MIRT509523	hsa-miR-4536-5p	PAR-CLIP	20371350
MIRT509521	hsa-miR-151a-3p	PAR-CLIP	20371350
MIRT509520	hsa-miR-150-3p	PAR-CLIP	20371350
MIRT499590	hsa-miR-4302	PAR-CLIP	20371350
MIRT499589	hsa-miR-4289	PAR-CLIP	20371350
MIRT499588	hsa-miR-676-5p	PAR-CLIP	20371350
MIRT499587	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT499586	hsa-miR-6077	PAR-CLIP	20371350
MIRT499585	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT499584	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT499583	hsa-miR-4752	PAR-CLIP	20371350
MIRT457929	hsa-miR-6835-3p	PAR-CLIP	21572407
MIRT457928	hsa-miR-4422	PAR-CLIP	21572407
MIRT457927	hsa-miR-6873-5p	PAR-CLIP	21572407
MIRT457926	hsa-miR-4519	PAR-CLIP	21572407
MIRT457925	hsa-miR-5584-5p	PAR-CLIP	21572407
MIRT457924	hsa-miR-6499-3p	PAR-CLIP	21572407
MIRT544715	hsa-miR-548n	PAR-CLIP	21572407
MIRT544716	hsa-miR-4773	PAR-CLIP	21572407
MIRT544713	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT522986	hsa-miR-8485	PAR-CLIP	21572407
MIRT522987	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT522985	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT522984	hsa-miR-603	PAR-CLIP	21572407
MIRT509527	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT522983	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT522982	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT522981	hsa-miR-3941	PAR-CLIP	21572407
MIRT522980	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT522979	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509530	hsa-miR-3133	PAR-CLIP	21572407
MIRT509529	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT509528	hsa-miR-4643	PAR-CLIP	21572407
MIRT509526	hsa-miR-1243	PAR-CLIP	21572407
MIRT509525	hsa-miR-4499	PAR-CLIP	21572407
MIRT509524	hsa-miR-4463	PAR-CLIP	21572407
MIRT509523	hsa-miR-4536-5p	PAR-CLIP	21572407
MIRT509522	hsa-miR-466	PAR-CLIP	21572407
MIRT509521	hsa-miR-151a-3p	PAR-CLIP	21572407
MIRT509520	hsa-miR-150-3p	PAR-CLIP	21572407
MIRT544715	hsa-miR-548n	PAR-CLIP	21572407
MIRT544716	hsa-miR-4773	PAR-CLIP	21572407
MIRT544714	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT544713	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT522986	hsa-miR-8485	PAR-CLIP	21572407
MIRT522987	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT522985	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT522984	hsa-miR-603	PAR-CLIP	21572407
MIRT509527	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT522983	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT522982	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT522981	hsa-miR-3941	PAR-CLIP	21572407
MIRT522980	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT522979	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509528	hsa-miR-4643	PAR-CLIP	22012620
MIRT509526	hsa-miR-1243	PAR-CLIP	22012620
MIRT509524	hsa-miR-4463	PAR-CLIP	22012620
MIRT509523	hsa-miR-4536-5p	PAR-CLIP	22012620
MIRT509522	hsa-miR-466	PAR-CLIP	22012620
MIRT509521	hsa-miR-151a-3p	PAR-CLIP	22012620
MIRT509520	hsa-miR-150-3p	PAR-CLIP	22012620
MIRT529771	hsa-miR-4311	PAR-CLIP	22012620
MIRT529770	hsa-miR-548b-3p	PAR-CLIP	22012620
MIRT529769	hsa-miR-1253	PAR-CLIP	22012620
MIRT457929	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT457928	hsa-miR-4422	PAR-CLIP	22012620
MIRT457927	hsa-miR-6873-5p	PAR-CLIP	22012620
MIRT457926	hsa-miR-4519	PAR-CLIP	22012620
MIRT457925	hsa-miR-5584-5p	PAR-CLIP	22012620
MIRT457924	hsa-miR-6499-3p	PAR-CLIP	22012620
MIRT509528	hsa-miR-4643	PAR-CLIP	23446348
MIRT509526	hsa-miR-1243	PAR-CLIP	23446348
MIRT509524	hsa-miR-4463	PAR-CLIP	23446348
MIRT522988	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT522989	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT509523	hsa-miR-4536-5p	PAR-CLIP	23446348
MIRT509522	hsa-miR-466	PAR-CLIP	23446348
MIRT509521	hsa-miR-151a-3p	PAR-CLIP	23446348
MIRT509520	hsa-miR-150-3p	PAR-CLIP	23446348
MIRT522986	hsa-miR-8485	PAR-CLIP	23446348
MIRT522987	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT522985	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT522984	hsa-miR-603	PAR-CLIP	23446348
MIRT509527	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT522983	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT522982	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT522981	hsa-miR-3941	PAR-CLIP	23446348
MIRT522980	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT522979	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT522978	hsa-miR-4438	PAR-CLIP	23446348
MIRT522977	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT522976	hsa-miR-520g-3p	PAR-CLIP	23446348
MIRT522975	hsa-miR-520h	PAR-CLIP	23446348
MIRT522974	hsa-miR-186-3p	PAR-CLIP	23446348
MIRT522973	hsa-miR-150-5p	PAR-CLIP	23446348
MIRT522972	hsa-miR-5186	PAR-CLIP	23446348
MIRT522970	hsa-miR-5095	PAR-CLIP	23446348
MIRT522971	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT522969	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT509530	hsa-miR-3133	PAR-CLIP	23446348
MIRT509529	hsa-miR-186-5p	PAR-CLIP	23446348
MIRT509527	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT509528	hsa-miR-4643	PAR-CLIP	23446348
MIRT509526	hsa-miR-1243	PAR-CLIP	23446348
MIRT509525	hsa-miR-4499	PAR-CLIP	23446348
MIRT509524	hsa-miR-4463	PAR-CLIP	23446348
MIRT509523	hsa-miR-4536-5p	PAR-CLIP	23446348
MIRT509522	hsa-miR-466	PAR-CLIP	23446348
MIRT509521	hsa-miR-151a-3p	PAR-CLIP	23446348
MIRT509520	hsa-miR-150-3p	PAR-CLIP	23446348
MIRT499590	hsa-miR-4302	PAR-CLIP	24398324
MIRT499589	hsa-miR-4289	PAR-CLIP	24398324
MIRT499588	hsa-miR-676-5p	PAR-CLIP	24398324
MIRT499587	hsa-miR-7-5p	PAR-CLIP	24398324
MIRT499586	hsa-miR-6077	PAR-CLIP	24398324
MIRT499585	hsa-miR-3190-3p	PAR-CLIP	24398324
MIRT499584	hsa-miR-6833-5p	PAR-CLIP	24398324
MIRT499583	hsa-miR-4752	PAR-CLIP	24398324
MIRT499581	hsa-miR-4272	PAR-CLIP	24398324
MIRT499582	hsa-miR-4742-5p	PAR-CLIP	24398324
MIRT499580	hsa-miR-4269	PAR-CLIP	24398324
MIRT499579	hsa-miR-6715b-5p	PAR-CLIP	24398324
MIRT499578	hsa-miR-4514	PAR-CLIP	24398324
MIRT499577	hsa-miR-4692	PAR-CLIP	24398324
MIRT499576	hsa-miR-31-5p	PAR-CLIP	24398324
MIRT499575	hsa-miR-503-3p	PAR-CLIP	24398324
MIRT457929	hsa-miR-6835-3p	PAR-CLIP	23592263
MIRT457928	hsa-miR-4422	PAR-CLIP	23592263
MIRT457927	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT457926	hsa-miR-4519	PAR-CLIP	23592263
MIRT457925	hsa-miR-5584-5p	PAR-CLIP	23592263
MIRT457924	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT734309	hsa-miR-5571-3p	Immunofluorescence, qRT-PCR, RNA-seq, Western blotting	31735554
MIRT734310	hsa-miR-146b-3p	Immunofluorescence, qRT-PCR, RNA-seq, Western blotting	31735554
MIRT734311	hsa-miR-21-5p	Immunofluorescence, qRT-PCR, RNA-seq, Western blotting	31735554
MIRT734311	hsa-miR-21-5p	Immunofluorescence, qRT-PCR, RNA-seq, Western blotting	31735554
MIRT522986	hsa-miR-8485	HITS-CLIP	21572407
MIRT522987	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT522985	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT522984	hsa-miR-603	HITS-CLIP	21572407
MIRT509527	hsa-miR-4789-3p	HITS-CLIP	21572407
MIRT522983	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT522982	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT522981	hsa-miR-3941	HITS-CLIP	21572407
MIRT522980	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT522979	hsa-miR-190a-3p	HITS-CLIP	21572407
MIRT657175	hsa-miR-562	HITS-CLIP	23824327
MIRT657173	hsa-miR-5697	HITS-CLIP	23824327
MIRT499582	hsa-miR-4742-5p	HITS-CLIP	23824327
MIRT499580	hsa-miR-4269	HITS-CLIP	23824327
MIRT499579	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT499578	hsa-miR-4514	HITS-CLIP	23824327
MIRT499577	hsa-miR-4692	HITS-CLIP	23824327
MIRT677107	hsa-miR-6814-5p	HITS-CLIP	23824327
MIRT657172	hsa-miR-3199	HITS-CLIP	23824327
MIRT657171	hsa-miR-8052	HITS-CLIP	23824327
MIRT657170	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT657169	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT663649	hsa-miR-548ae-3p	HITS-CLIP	23824327
MIRT663648	hsa-miR-548ah-3p	HITS-CLIP	23824327
MIRT663647	hsa-miR-548aj-3p	HITS-CLIP	23824327
MIRT663646	hsa-miR-548am-3p	HITS-CLIP	23824327
MIRT663645	hsa-miR-548aq-3p	HITS-CLIP	23824327
MIRT663644	hsa-miR-548j-3p	HITS-CLIP	23824327
MIRT663643	hsa-miR-548x-3p	HITS-CLIP	23824327
MIRT623619	hsa-miR-4282	HITS-CLIP	23824327
MIRT623618	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT499581	hsa-miR-4272	HITS-CLIP	23824327
MIRT623616	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT623615	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT623614	hsa-miR-421	HITS-CLIP	23824327
MIRT623613	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT657175	hsa-miR-562	HITS-CLIP	23824327
MIRT657174	hsa-miR-8062	HITS-CLIP	23824327
MIRT657173	hsa-miR-5697	HITS-CLIP	23824327
MIRT499582	hsa-miR-4742-5p	HITS-CLIP	23824327
MIRT499580	hsa-miR-4269	HITS-CLIP	23824327
MIRT499579	hsa-miR-6715b-5p	HITS-CLIP	23824327
MIRT499578	hsa-miR-4514	HITS-CLIP	23824327
MIRT499577	hsa-miR-4692	HITS-CLIP	23824327
MIRT657172	hsa-miR-3199	HITS-CLIP	23824327
MIRT657171	hsa-miR-8052	HITS-CLIP	23824327
MIRT657170	hsa-miR-365a-5p	HITS-CLIP	23824327
MIRT657169	hsa-miR-365b-5p	HITS-CLIP	23824327
MIRT623619	hsa-miR-4282	HITS-CLIP	23824327
MIRT623618	hsa-miR-501-5p	HITS-CLIP	23824327
MIRT499581	hsa-miR-4272	HITS-CLIP	23824327
MIRT623617	hsa-miR-95-5p	HITS-CLIP	23824327
MIRT623616	hsa-miR-7159-5p	HITS-CLIP	23824327
MIRT623615	hsa-miR-505-3p	HITS-CLIP	23824327
MIRT623614	hsa-miR-421	HITS-CLIP	23824327
MIRT623613	hsa-miR-6516-3p	HITS-CLIP	23824327
MIRT509530	hsa-miR-3133	PAR-CLIP	20371350
MIRT509529	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT509527	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT509528	hsa-miR-4643	PAR-CLIP	20371350
MIRT509526	hsa-miR-1243	PAR-CLIP	20371350
MIRT509525	hsa-miR-4499	PAR-CLIP	20371350
MIRT509524	hsa-miR-4463	PAR-CLIP	20371350
MIRT509523	hsa-miR-4536-5p	PAR-CLIP	20371350
MIRT509522	hsa-miR-466	PAR-CLIP	20371350
MIRT509521	hsa-miR-151a-3p	PAR-CLIP	20371350
MIRT574010	hsa-miR-1261	PAR-CLIP	20371350
MIRT509520	hsa-miR-150-3p	PAR-CLIP	20371350
MIRT509530	hsa-miR-3133	PAR-CLIP	20371350
MIRT509529	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT509527	hsa-miR-4789-3p	PAR-CLIP	20371350
MIRT509528	hsa-miR-4643	PAR-CLIP	20371350
MIRT509526	hsa-miR-1243	PAR-CLIP	20371350
MIRT509525	hsa-miR-4499	PAR-CLIP	20371350
MIRT509524	hsa-miR-4463	PAR-CLIP	20371350
MIRT522988	hsa-miR-3942-5p	PAR-CLIP	20371350
MIRT522989	hsa-miR-4703-5p	PAR-CLIP	20371350
MIRT509523	hsa-miR-4536-5p	PAR-CLIP	20371350
MIRT509522	hsa-miR-466	PAR-CLIP	20371350
MIRT509521	hsa-miR-151a-3p	PAR-CLIP	20371350
MIRT509520	hsa-miR-150-3p	PAR-CLIP	20371350
MIRT509530	hsa-miR-3133	PAR-CLIP	20371350
MIRT509529	hsa-miR-186-5p	PAR-CLIP	20371350
MIRT509526	hsa-miR-1243	PAR-CLIP	20371350
MIRT509525	hsa-miR-4499	PAR-CLIP	20371350
MIRT509524	hsa-miR-4463	PAR-CLIP	20371350
MIRT509523	hsa-miR-4536-5p	PAR-CLIP	20371350
MIRT509521	hsa-miR-151a-3p	PAR-CLIP	20371350
MIRT509520	hsa-miR-150-3p	PAR-CLIP	20371350
MIRT499590	hsa-miR-4302	PAR-CLIP	20371350
MIRT499589	hsa-miR-4289	PAR-CLIP	20371350
MIRT499588	hsa-miR-676-5p	PAR-CLIP	20371350
MIRT499587	hsa-miR-7-5p	PAR-CLIP	20371350
MIRT499586	hsa-miR-6077	PAR-CLIP	20371350
MIRT499585	hsa-miR-3190-3p	PAR-CLIP	20371350
MIRT499584	hsa-miR-6833-5p	PAR-CLIP	20371350
MIRT499583	hsa-miR-4752	PAR-CLIP	20371350
MIRT457929	hsa-miR-6835-3p	PAR-CLIP	21572407
MIRT457928	hsa-miR-4422	PAR-CLIP	21572407
MIRT457927	hsa-miR-6873-5p	PAR-CLIP	21572407
MIRT457926	hsa-miR-4519	PAR-CLIP	21572407
MIRT457925	hsa-miR-5584-5p	PAR-CLIP	21572407
MIRT457924	hsa-miR-6499-3p	PAR-CLIP	21572407
MIRT544715	hsa-miR-548n	PAR-CLIP	21572407
MIRT544716	hsa-miR-4773	PAR-CLIP	21572407
MIRT544713	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT522986	hsa-miR-8485	PAR-CLIP	21572407
MIRT522987	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT522985	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT522984	hsa-miR-603	PAR-CLIP	21572407
MIRT509527	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT522983	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT522982	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT522981	hsa-miR-3941	PAR-CLIP	21572407
MIRT522980	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT522979	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509530	hsa-miR-3133	PAR-CLIP	21572407
MIRT509529	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT509528	hsa-miR-4643	PAR-CLIP	21572407
MIRT509526	hsa-miR-1243	PAR-CLIP	21572407
MIRT509525	hsa-miR-4499	PAR-CLIP	21572407
MIRT509524	hsa-miR-4463	PAR-CLIP	21572407
MIRT509523	hsa-miR-4536-5p	PAR-CLIP	21572407
MIRT509522	hsa-miR-466	PAR-CLIP	21572407
MIRT509521	hsa-miR-151a-3p	PAR-CLIP	21572407
MIRT509520	hsa-miR-150-3p	PAR-CLIP	21572407
MIRT544715	hsa-miR-548n	PAR-CLIP	21572407
MIRT544716	hsa-miR-4773	PAR-CLIP	21572407
MIRT544714	hsa-miR-3613-3p	PAR-CLIP	21572407
MIRT544713	hsa-miR-4668-5p	PAR-CLIP	21572407
MIRT522986	hsa-miR-8485	PAR-CLIP	21572407
MIRT522987	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT522985	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT522984	hsa-miR-603	PAR-CLIP	21572407
MIRT509527	hsa-miR-4789-3p	PAR-CLIP	21572407
MIRT522983	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT522982	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT522981	hsa-miR-3941	PAR-CLIP	21572407
MIRT522980	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT522979	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT509528	hsa-miR-4643	PAR-CLIP	22012620
MIRT509526	hsa-miR-1243	PAR-CLIP	22012620
MIRT509524	hsa-miR-4463	PAR-CLIP	22012620
MIRT509523	hsa-miR-4536-5p	PAR-CLIP	22012620
MIRT509522	hsa-miR-466	PAR-CLIP	22012620
MIRT509521	hsa-miR-151a-3p	PAR-CLIP	22012620
MIRT509520	hsa-miR-150-3p	PAR-CLIP	22012620
MIRT529771	hsa-miR-4311	PAR-CLIP	22012620
MIRT529770	hsa-miR-548b-3p	PAR-CLIP	22012620
MIRT529769	hsa-miR-1253	PAR-CLIP	22012620
MIRT457929	hsa-miR-6835-3p	PAR-CLIP	22012620
MIRT457928	hsa-miR-4422	PAR-CLIP	22012620
MIRT457927	hsa-miR-6873-5p	PAR-CLIP	22012620
MIRT457926	hsa-miR-4519	PAR-CLIP	22012620
MIRT457925	hsa-miR-5584-5p	PAR-CLIP	22012620
MIRT457924	hsa-miR-6499-3p	PAR-CLIP	22012620
MIRT509528	hsa-miR-4643	PAR-CLIP	23446348
MIRT509526	hsa-miR-1243	PAR-CLIP	23446348
MIRT509524	hsa-miR-4463	PAR-CLIP	23446348
MIRT522988	hsa-miR-3942-5p	PAR-CLIP	23446348
MIRT522989	hsa-miR-4703-5p	PAR-CLIP	23446348
MIRT509523	hsa-miR-4536-5p	PAR-CLIP	23446348
MIRT509522	hsa-miR-466	PAR-CLIP	23446348
MIRT509521	hsa-miR-151a-3p	PAR-CLIP	23446348
MIRT509520	hsa-miR-150-3p	PAR-CLIP	23446348
MIRT522986	hsa-miR-8485	PAR-CLIP	23446348
MIRT522987	hsa-miR-329-3p	PAR-CLIP	23446348
MIRT522985	hsa-miR-362-3p	PAR-CLIP	23446348
MIRT522984	hsa-miR-603	PAR-CLIP	23446348
MIRT509527	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT522983	hsa-miR-5580-3p	PAR-CLIP	23446348
MIRT522982	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT522981	hsa-miR-3941	PAR-CLIP	23446348
MIRT522980	hsa-miR-4789-5p	PAR-CLIP	23446348
MIRT522979	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT522978	hsa-miR-4438	PAR-CLIP	23446348
MIRT522977	hsa-miR-6504-3p	PAR-CLIP	23446348
MIRT522976	hsa-miR-520g-3p	PAR-CLIP	23446348
MIRT522975	hsa-miR-520h	PAR-CLIP	23446348
MIRT522974	hsa-miR-186-3p	PAR-CLIP	23446348
MIRT522973	hsa-miR-150-5p	PAR-CLIP	23446348
MIRT522972	hsa-miR-5186	PAR-CLIP	23446348
MIRT522970	hsa-miR-5095	PAR-CLIP	23446348
MIRT522971	hsa-miR-7151-3p	PAR-CLIP	23446348
MIRT522969	hsa-miR-6807-5p	PAR-CLIP	23446348
MIRT509530	hsa-miR-3133	PAR-CLIP	23446348
MIRT509529	hsa-miR-186-5p	PAR-CLIP	23446348
MIRT509527	hsa-miR-4789-3p	PAR-CLIP	23446348
MIRT509528	hsa-miR-4643	PAR-CLIP	23446348
MIRT509526	hsa-miR-1243	PAR-CLIP	23446348
MIRT509525	hsa-miR-4499	PAR-CLIP	23446348
MIRT509524	hsa-miR-4463	PAR-CLIP	23446348
MIRT509523	hsa-miR-4536-5p	PAR-CLIP	23446348
MIRT509522	hsa-miR-466	PAR-CLIP	23446348
MIRT509521	hsa-miR-151a-3p	PAR-CLIP	23446348
MIRT509520	hsa-miR-150-3p	PAR-CLIP	23446348
MIRT499590	hsa-miR-4302	PAR-CLIP	24398324
MIRT499589	hsa-miR-4289	PAR-CLIP	24398324
MIRT499588	hsa-miR-676-5p	PAR-CLIP	24398324
MIRT499587	hsa-miR-7-5p	PAR-CLIP	24398324
MIRT499586	hsa-miR-6077	PAR-CLIP	24398324
MIRT499585	hsa-miR-3190-3p	PAR-CLIP	24398324
MIRT499584	hsa-miR-6833-5p	PAR-CLIP	24398324
MIRT499583	hsa-miR-4752	PAR-CLIP	24398324
MIRT499581	hsa-miR-4272	PAR-CLIP	24398324
MIRT499582	hsa-miR-4742-5p	PAR-CLIP	24398324
MIRT499580	hsa-miR-4269	PAR-CLIP	24398324
MIRT499579	hsa-miR-6715b-5p	PAR-CLIP	24398324
MIRT499578	hsa-miR-4514	PAR-CLIP	24398324
MIRT499577	hsa-miR-4692	PAR-CLIP	24398324
MIRT499576	hsa-miR-31-5p	PAR-CLIP	24398324
MIRT499575	hsa-miR-503-3p	PAR-CLIP	24398324
MIRT457929	hsa-miR-6835-3p	PAR-CLIP	23592263
MIRT457928	hsa-miR-4422	PAR-CLIP	23592263
MIRT457927	hsa-miR-6873-5p	PAR-CLIP	23592263
MIRT457926	hsa-miR-4519	PAR-CLIP	23592263
MIRT457925	hsa-miR-5584-5p	PAR-CLIP	23592263
MIRT457924	hsa-miR-6499-3p	PAR-CLIP	23592263
MIRT1068265	hsa-miR-1248	CLIP-seq
MIRT1068266	hsa-miR-1297	CLIP-seq
MIRT1068267	hsa-miR-1305	CLIP-seq
MIRT1068268	hsa-miR-188-5p	CLIP-seq
MIRT1068269	hsa-miR-23a	CLIP-seq
MIRT1068270	hsa-miR-23b	CLIP-seq
MIRT1068271	hsa-miR-23c	CLIP-seq
MIRT1068272	hsa-miR-26a	CLIP-seq
MIRT1068273	hsa-miR-26b	CLIP-seq
MIRT1068274	hsa-miR-4465	CLIP-seq
MIRT1068275	hsa-miR-496	CLIP-seq
MIRT1068276	hsa-miR-498	CLIP-seq
MIRT2016629	hsa-miR-3143	CLIP-seq
MIRT2016630	hsa-miR-4528	CLIP-seq
MIRT2016631	hsa-miR-543	CLIP-seq
MIRT2016632	hsa-miR-607	CLIP-seq
MIRT1068269	hsa-miR-23a	CLIP-seq
MIRT1068270	hsa-miR-23b	CLIP-seq
MIRT1068271	hsa-miR-23c	CLIP-seq
MIRT2248777	hsa-miR-545	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001736	Process	Establishment of planar polarity	IEA
GO:0001736	Process	Establishment of planar polarity	NAS	27158779
GO:0005515	Function	Protein binding	IPI	26644512, 27173435, 33961781
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005814	Component	Centriole	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	NAS	27158779
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007399	Process	Nervous system development	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	ISS
GO:0008589	Process	Regulation of smoothened signaling pathway	IEA
GO:0008589	Process	Regulation of smoothened signaling pathway	ISS
GO:0009986	Component	Cell surface	IEA
GO:0010839	Process	Negative regulation of keratinocyte proliferation	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0021513	Process	Spinal cord dorsal/ventral patterning	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0021915	Process	Neural tube development	NAS	27158779
GO:0030030	Process	Cell projection organization	IEA
GO:0030216	Process	Keratinocyte differentiation	IEA
GO:0030278	Process	Regulation of ossification	IEA
GO:0031069	Process	Hair follicle morphogenesis	IEA
GO:0031514	Component	Motile cilium	IDA	26644512
GO:0033365	Process	Protein localization to organelle	IEA
GO:0035091	Function	Phosphatidylinositol binding	IEA
GO:0035091	Function	Phosphatidylinositol binding	ISS
GO:0035869	Component	Ciliary transition zone	IEA
GO:0036064	Component	Ciliary basal body	IDA	26644512
GO:0042073	Process	Intraciliary transport	NAS	27158779
GO:0042733	Process	Embryonic digit morphogenesis	IEA
GO:0042733	Process	Embryonic digit morphogenesis	IMP	27158779
GO:0042995	Component	Cell projection	IEA
GO:0043587	Process	Tongue morphogenesis	IMP	27158779
GO:0044458	Process	Motile cilium assembly	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0051301	Process	Cell division	IEA
GO:0051782	Process	Negative regulation of cell division	IEA
GO:0060021	Process	Roof of mouth development	IMP	27158779
GO:0060173	Process	Limb development	IEA
GO:0060173	Process	Limb development	ISS
GO:0060271	Process	Cilium assembly	IBA
GO:0060271	Process	Cilium assembly	IEA
GO:0060271	Process	Cilium assembly	ISS
GO:1902017	Process	Regulation of cilium assembly	NAS	27158779
GO:1905515	Process	Non-motile cilium assembly	IEA

Other IDs

• MIM: 610621
• HGNC: 29239
• e!Ensembl: ENSG00000164066

Protein

• UniProt ID: Q9ULD6
• Protein name: Protein inturned (Inturned planar cell polarity effector homolog) (PDZ domain-containing protein 6)
• Protein function: Plays a key role in ciliogenesis and embryonic development. Regulator of cilia formation by controlling the organization of the apical actin cytoskeleton and the positioning of the basal bodies at the apical cell surface, which in turn is essent
• PDB: 7Q3D
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF19031	Intu_longin_1	305 → 416	First Longin domain of INTU, CCZ1 and HPS4	Domain
  PF19032	Intu_longin_2	514 → 633	Intu longin-like domain 2	Domain
  PF19033	Intu_longin_3	796 → 936	Intu longin-like domain 3	Domain

• Sequence:

  MASVASCDSRPSSDELPGDPSSQEEDEDYDFEDRVSDSGSYSSASSDYDDLEPEWLDSVQ
  KNGELFYLELSEDEEESLLPETPTVNHVRFSENEIIIEDDYKERKKYEPKLKQFTKILRR
  KRLLPKRCNKKNSNDNGPVSILKHQSNQKTGVIVQQRYKDVNVYVNPKKLTVIKAKEQLK
  LLEVLVGIIHQTKWSWRRTGKQGDGERLVVHGLLPGGSAMKSGQVLIGDVLVAVNDVDVT
  TENIERVLSCIPGPMQVKLTFENAYDVKRETSHPRQKKTQSNTSDLVKLLWGEEVEGIQQ
  SGLNTPHIIMYLTLQLDSETSKEEQEILYHYPMSEASQKLKSVRGIFLTLCDMLENVTGT
  QVTSSSLLLNGKQIHVAYWKESDKLLLIGLPAEEVPLPRLRNMIENVIQTLKFMYGSLDS
  AFCQIENVPRLDHFFNLFFQRALQPAKLHSSASPSAQQYDASSAVLLDNLPGVRWLTLPL
  EIKMELDMALSDLEAADFAELSEDYYDMRRLYTILGSSLFYKGYLICSHLPKDDLIDIAV
  YCRHYCLLPLAAKQRIGQLIIWREVFPQHHLRPLADSSTEVFPEPEGRYFLLVVGLKHYM
  LCVLLEAGGCASKAIGSPGPDCVYVDQVKTTLHQLDGVDSRIDERLASSPVPCLSCADWF
  LTGSREKTDSLTTSPILSRLQGTSKVATSPTCRRTLFGDYSLKTRKPSPSCSSGGSDNGC
  EGGEDDGFSPHTTPDAVRKQRESQGSDGLEESGTLLKVTKKKSTLPNPFHLGNLKKDLPE
  KELEIYNTVKLTSGPENTLFHYVALETVQGIFITPTLEEVAQLSGSIHPQLIKNFHQCCL
  SIRAVFQQTLVEEKKKGLNSGDHSDSAKSVSSLNPVKEHGVLFECSPGNWTDQKKAPPVM
  AYWVVGRLFLHPKPQELYVCFHDSVTEIAIEIAFKLFFGLTL

• Sequence length: 942

Pathways

Reactome:

Hedgehog 'off' state

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
Mohr syndrome	Likely pathogenic; Pathogenic	rs1553970289	RCV000851201	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Orofaciodigital syndrome 17	Likely pathogenic; Pathogenic	rs1729889650, rs2148734459, rs2530892886, rs1553970289	RCV001837370 RCV002262193 RCV004595405 RCV000599596	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short rib-polydactyly syndrome	Likely pathogenic	rs1037828930, rs1360128571	RCV000851203 RCV000851204	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 20 with polydactyly	Likely pathogenic; Pathogenic	rs1729889650, rs2148734459, rs1037828930, rs1360128571	RCV001837370 RCV002262193 RCV000599556 RCV000598855	★★★★☆ 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
ASPHYXIATING THORACIC DYSPLASIA JEUNE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth delay	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTU-related disorder	Benign; Likely benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune thoracic dystrophy	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nephronophthisis	Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OPEN-ANGLE GLAUCOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME XVII	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short-rib thoracic dysplasia 7/20 with polydactyly, digenic	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	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
Acute pancreatitis	Pancreatitis	BEFREE	29859191		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	9811675		★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29361497, 29976576		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	8596472		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29361497, 29976576		★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	29654451		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	29654451		★☆☆☆☆ Found in Text Mining only
Atrioventricular Septal Defect	Atrioventricular septal defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	29654451		★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	BEFREE	19079809		★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12160330		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	19079809		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	28459465		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	28757539		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30318902		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	26969740		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	19037088, 39369124	Associate	★☆☆☆☆ Found in Text Mining only
Congenital duplication of uterus	Congenital Duplication Of Uterus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28704858, 29089371		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28704858, 29089371		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26757816, 28655613, 30785773		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29089371		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29712667		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	30878820		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	33436679	Associate	★☆☆☆☆ Found in Text Mining only
Epithelioid hemangioendothelioma	Epithelioid Hemangioendothelioma	BEFREE	27334221		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	30038487		★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	29259742, 29375205, 30038487		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gallbladder, Agenesis Of	Agenesis Of Gallbladder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	16798098		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16798098		★☆☆☆☆ Found in Text Mining only
Hereditary hemochromatosis	Hereditary Hemochromatosis	BEFREE	28459465		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	29361497		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30733182		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29935310, 30144494		★☆☆☆☆ Found in Text Mining only
Laryngeal hypoplasia	Laryngeal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28894223		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12160330		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	28655613, 29945982		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	27470608		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mohr Syndrome	Mohr Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myelodysplastic Syndromes	Myelodysplastic syndrome	Pubtator	26025663	Associate	★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	30341559		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30039978, 30318902		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	26969740, 29710781		★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	29361497		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	29259742, 29375205, 29945982, 30038487		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	29089371		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OROFACIODIGITAL SYNDROME VI	Orofaciodigital syndrome	BEFREE	29451301		★☆☆☆☆ Found in Text Mining only
OROFACIODIGITAL SYNDROME XVII	Orofaciodigital syndrome	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteofibrous Dysplasia	Osteofibrous Dysplasia	BEFREE	29451301		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia Vera	BEFREE	29078036		★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	31254667		★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	25589620		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29089371		★☆☆☆☆ Found in Text Mining only
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY	Short Rib-Polydactyly Syndrome	UNIPROT_DG	27158779		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY	Short Rib-Polydactyly Syndrome	CLINVAR_DG	27158779		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY	Short Rib-Polydactyly Syndrome	GENOMICS_ENGLAND_DG	29451301		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Steatohepatitis	Fatty Liver	BEFREE	29375205, 30038487		★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	31493504		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tubular Aggregate Myopathy	Tubular Aggregate Myopathy	BEFREE	30341559		★☆☆☆☆ Found in Text Mining only