OCRL (OCRL inositol polyphosphate-5-phosphatase)

Gene

• Entrez ID: 4952
• Gene name: OCRL inositol polyphosphate-5-phosphatase
• Gene symbol: OCRL
• Synonyms (NCBI Gene): DENT2, Dent-2, INPP5F, LOCR, NPHL2, OCRL-1, OCRL1
• Chromosome: X
• Chromosome location: Xq26.1
• Summary: This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plas

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853260	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853261	C>G	Pathogenic	Coding sequence variant, missense variant
rs137853262	A>G	Pathogenic	Coding sequence variant, missense variant
rs137853263	C>A,T	Not-provided, likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs137853846	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs387906484	C>T	Pathogenic	Stop gained, coding sequence variant
rs398123287	C>G,T	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, stop gained, coding sequence variant
rs398123288	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs398123289	G>A,T	Pathogenic	Splice acceptor variant
rs398123290	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs749551841	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs765141317	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs776743373	G>A,T	Pathogenic	Intron variant
rs794727137	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs794727182	G>A	Pathogenic	Splice acceptor variant
rs794727333	C>T	Pathogenic	Stop gained, coding sequence variant
rs886039518	C>T	Pathogenic	Missense variant, coding sequence variant
rs886039519	TG>-	Pathogenic	Frameshift variant, coding sequence variant
rs886041880	A>G	Pathogenic	Splice acceptor variant
rs935956958	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs1057515577	A>G	Pathogenic	Intron variant
rs1057518276	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520078	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1057520613	A>C	Pathogenic	Missense variant, coding sequence variant
rs1057521742	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1057521952	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1182741031	C>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant
rs1556338810	AGATGTGTTCAAGGTACTAGCTTTAATTCCTTAGCTAGTTTTATAATGTTTTTTCTCGGTCATTACTGCATTATGTAATACCATACATATTTAAATTTGTCAGTGCATGTAAAATGAAATGTATTACTCTTTGCATAAAAAGATAACATTGAGGAGATGATACTTTCTCTAAGAATGCTGAAGGGTTATATCGAAATATATTTGTATATGTGTGTCTATAGTCTCACCTGTTTCCTTGGCTTGGGTTAGAGATGT	Likely-pathogenic	Intron variant, coding sequence variant, splice donor variant
rs1556345557	->A	Likely-pathogenic	Splice acceptor variant
rs1556345889	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1556346271	CTTCTTATATTTGCCAG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1556346316	C>T	Pathogenic	Stop gained, coding sequence variant
rs1569458883	G>C	Likely-pathogenic	Splice donor variant
rs1569463775	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602780580	G>-	Pathogenic	Coding sequence variant, splice acceptor variant
rs1602782082	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1602782195	AT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1602783564	G>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1602791255	CT>-	Pathogenic	Coding sequence variant, stop gained
rs1602802472	T>A	Pathogenic	Coding sequence variant, missense variant
rs1602802640	A>C	Pathogenic	Coding sequence variant, missense variant
rs1602818783	G>A	Likely-pathogenic	Splice donor variant
rs1602819835	C>T	Pathogenic	Coding sequence variant, stop gained
rs1602820970	G>A	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT047730	hsa-miR-10a-5p	CLASH	23622248
MIRT044664	hsa-miR-320a	CLASH	23622248
MIRT043931	hsa-miR-378a-3p	CLASH	23622248
MIRT042349	hsa-miR-484	CLASH	23622248
MIRT326301	hsa-miR-15a-5p	HITS-CLIP	23313552
MIRT326305	hsa-miR-195-5p	HITS-CLIP	23313552
MIRT326302	hsa-miR-16-5p	HITS-CLIP	23313552
MIRT326307	hsa-miR-497-5p	HITS-CLIP	23313552
MIRT326310	hsa-miR-503-5p	HITS-CLIP	23313552
MIRT326315	hsa-miR-6838-5p	HITS-CLIP	23313552
MIRT326304	hsa-miR-15b-5p	HITS-CLIP	23313552
MIRT326306	hsa-miR-424-5p	HITS-CLIP	23313552
MIRT701241	hsa-miR-495-3p	HITS-CLIP	23313552
MIRT701239	hsa-miR-5688	HITS-CLIP	23313552
MIRT701240	hsa-miR-7-1-3p	HITS-CLIP	23313552
MIRT701238	hsa-miR-7-2-3p	HITS-CLIP	23313552
MIRT326311	hsa-miR-646	HITS-CLIP	23313552
MIRT175616	hsa-miR-1245a	HITS-CLIP	23313552
MIRT175641	hsa-miR-8079	HITS-CLIP	23313552
MIRT701237	hsa-miR-8062	HITS-CLIP	23313552
MIRT701236	hsa-miR-410-3p	HITS-CLIP	23313552
MIRT701235	hsa-miR-1251-3p	HITS-CLIP	23313552
MIRT701234	hsa-miR-4668-5p	HITS-CLIP	23313552
MIRT701233	hsa-miR-3153	HITS-CLIP	23313552
MIRT701232	hsa-miR-6733-5p	HITS-CLIP	23313552
MIRT701231	hsa-miR-6739-5p	HITS-CLIP	23313552
MIRT701230	hsa-miR-4524a-5p	HITS-CLIP	23313552
MIRT701229	hsa-miR-4524b-5p	HITS-CLIP	23313552
MIRT701228	hsa-miR-3606-5p	HITS-CLIP	23313552
MIRT701227	hsa-miR-921	HITS-CLIP	23313552
MIRT701226	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT701225	hsa-miR-3122	HITS-CLIP	23313552
MIRT701224	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT701223	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT701222	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT547247	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT108775	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT108777	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT547246	hsa-miR-5692b	PAR-CLIP	21572407
MIRT547245	hsa-miR-5692c	PAR-CLIP	21572407
MIRT108776	hsa-miR-425-5p	PAR-CLIP	21572407
MIRT108774	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT547244	hsa-miR-4462	PAR-CLIP	21572407
MIRT326317	hsa-miR-450b-5p	PAR-CLIP	21572407
MIRT443332	hsa-miR-6768-3p	PAR-CLIP	22100165
MIRT443331	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT443330	hsa-miR-505-5p	PAR-CLIP	22100165
MIRT175599	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT175594	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT175599	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT175591	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT175602	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT175596	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT175607	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT175592	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT175593	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT175594	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT326301	hsa-miR-15a-5p	HITS-CLIP	23313552
MIRT326305	hsa-miR-195-5p	HITS-CLIP	23313552
MIRT326302	hsa-miR-16-5p	HITS-CLIP	23313552
MIRT326307	hsa-miR-497-5p	HITS-CLIP	23313552
MIRT326310	hsa-miR-503-5p	HITS-CLIP	23313552
MIRT326315	hsa-miR-6838-5p	HITS-CLIP	23313552
MIRT326304	hsa-miR-15b-5p	HITS-CLIP	23313552
MIRT326306	hsa-miR-424-5p	HITS-CLIP	23313552
MIRT701241	hsa-miR-495-3p	HITS-CLIP	23313552
MIRT701239	hsa-miR-5688	HITS-CLIP	23313552
MIRT701240	hsa-miR-7-1-3p	HITS-CLIP	23313552
MIRT701238	hsa-miR-7-2-3p	HITS-CLIP	23313552
MIRT326311	hsa-miR-646	HITS-CLIP	23313552
MIRT175616	hsa-miR-1245a	HITS-CLIP	23313552
MIRT175641	hsa-miR-8079	HITS-CLIP	23313552
MIRT701237	hsa-miR-8062	HITS-CLIP	23313552
MIRT701236	hsa-miR-410-3p	HITS-CLIP	23313552
MIRT701235	hsa-miR-1251-3p	HITS-CLIP	23313552
MIRT701234	hsa-miR-4668-5p	HITS-CLIP	23313552
MIRT701233	hsa-miR-3153	HITS-CLIP	23313552
MIRT701232	hsa-miR-6733-5p	HITS-CLIP	23313552
MIRT701231	hsa-miR-6739-5p	HITS-CLIP	23313552
MIRT701230	hsa-miR-4524a-5p	HITS-CLIP	23313552
MIRT701229	hsa-miR-4524b-5p	HITS-CLIP	23313552
MIRT701228	hsa-miR-3606-5p	HITS-CLIP	23313552
MIRT701227	hsa-miR-921	HITS-CLIP	23313552
MIRT701226	hsa-miR-450a-1-3p	HITS-CLIP	23313552
MIRT701225	hsa-miR-3122	HITS-CLIP	23313552
MIRT701224	hsa-miR-3913-5p	HITS-CLIP	23313552
MIRT701223	hsa-miR-887-5p	HITS-CLIP	23313552
MIRT701222	hsa-miR-6513-5p	HITS-CLIP	23313552
MIRT547247	hsa-miR-369-3p	PAR-CLIP	21572407
MIRT108775	hsa-miR-374a-5p	PAR-CLIP	21572407
MIRT108777	hsa-miR-374b-5p	PAR-CLIP	21572407
MIRT547246	hsa-miR-5692b	PAR-CLIP	21572407
MIRT547245	hsa-miR-5692c	PAR-CLIP	21572407
MIRT108776	hsa-miR-425-5p	PAR-CLIP	21572407
MIRT108774	hsa-miR-95-5p	PAR-CLIP	21572407
MIRT547244	hsa-miR-4462	PAR-CLIP	21572407
MIRT326317	hsa-miR-450b-5p	PAR-CLIP	21572407
MIRT443332	hsa-miR-6768-3p	PAR-CLIP	22100165
MIRT443331	hsa-miR-4753-5p	PAR-CLIP	22100165
MIRT443330	hsa-miR-505-5p	PAR-CLIP	22100165
MIRT1202014	hsa-miR-1246	CLIP-seq
MIRT1202015	hsa-miR-1287	CLIP-seq
MIRT1202016	hsa-miR-1290	CLIP-seq
MIRT1202017	hsa-miR-1910	CLIP-seq
MIRT1202018	hsa-miR-197	CLIP-seq
MIRT1202019	hsa-miR-3120-3p	CLIP-seq
MIRT1202020	hsa-miR-3135b	CLIP-seq
MIRT1202021	hsa-miR-3167	CLIP-seq
MIRT1202022	hsa-miR-3173-3p	CLIP-seq
MIRT1202023	hsa-miR-3689d	CLIP-seq
MIRT1202024	hsa-miR-370	CLIP-seq
MIRT1202025	hsa-miR-3915	CLIP-seq
MIRT1202026	hsa-miR-3928	CLIP-seq
MIRT1202027	hsa-miR-4305	CLIP-seq
MIRT1202028	hsa-miR-4476	CLIP-seq
MIRT1202029	hsa-miR-4533	CLIP-seq
MIRT1202030	hsa-miR-455-3p	CLIP-seq
MIRT1202031	hsa-miR-4659a-3p	CLIP-seq
MIRT1202032	hsa-miR-4659b-3p	CLIP-seq
MIRT1202033	hsa-miR-4663	CLIP-seq
MIRT1202034	hsa-miR-4717-3p	CLIP-seq
MIRT1202035	hsa-miR-4802-3p	CLIP-seq
MIRT1202036	hsa-miR-490-5p	CLIP-seq
MIRT1202037	hsa-miR-548v	CLIP-seq
MIRT1202038	hsa-miR-876-5p	CLIP-seq
MIRT1202039	hsa-miR-105	CLIP-seq
MIRT1202040	hsa-miR-1225-5p	CLIP-seq
MIRT1202014	hsa-miR-1246	CLIP-seq
MIRT1202041	hsa-miR-1261	CLIP-seq
MIRT1202015	hsa-miR-1287	CLIP-seq
MIRT1202016	hsa-miR-1290	CLIP-seq
MIRT1202042	hsa-miR-133a	CLIP-seq
MIRT1202043	hsa-miR-133b	CLIP-seq
MIRT1202044	hsa-miR-18a	CLIP-seq
MIRT1202045	hsa-miR-18b	CLIP-seq
MIRT1202018	hsa-miR-197	CLIP-seq
MIRT1202046	hsa-miR-199a-5p	CLIP-seq
MIRT1202047	hsa-miR-199b-5p	CLIP-seq
MIRT1202048	hsa-miR-2113	CLIP-seq
MIRT1202049	hsa-miR-297	CLIP-seq
MIRT1202050	hsa-miR-3124-3p	CLIP-seq
MIRT1202051	hsa-miR-3132	CLIP-seq
MIRT1202020	hsa-miR-3135b	CLIP-seq
MIRT1202052	hsa-miR-3149	CLIP-seq
MIRT1202053	hsa-miR-3162-3p	CLIP-seq
MIRT1202021	hsa-miR-3167	CLIP-seq
MIRT1202054	hsa-miR-3170	CLIP-seq
MIRT1202055	hsa-miR-3176	CLIP-seq
MIRT1202056	hsa-miR-3201	CLIP-seq
MIRT1202057	hsa-miR-323-5p	CLIP-seq
MIRT1202058	hsa-miR-342-5p	CLIP-seq
MIRT1202059	hsa-miR-34b	CLIP-seq
MIRT1202060	hsa-miR-3646	CLIP-seq
MIRT1202061	hsa-miR-3679-3p	CLIP-seq
MIRT1202062	hsa-miR-3682-5p	CLIP-seq
MIRT1202063	hsa-miR-3922-3p	CLIP-seq
MIRT1202064	hsa-miR-411	CLIP-seq
MIRT1202065	hsa-miR-4257	CLIP-seq
MIRT1202066	hsa-miR-4275	CLIP-seq
MIRT1202067	hsa-miR-4312	CLIP-seq
MIRT1202068	hsa-miR-4446-5p	CLIP-seq
MIRT1202069	hsa-miR-4456	CLIP-seq
MIRT1202070	hsa-miR-4651	CLIP-seq
MIRT1202071	hsa-miR-4664-5p	CLIP-seq
MIRT1202034	hsa-miR-4717-3p	CLIP-seq
MIRT1202072	hsa-miR-4719	CLIP-seq
MIRT1202073	hsa-miR-4724-3p	CLIP-seq
MIRT1202074	hsa-miR-4735-3p	CLIP-seq
MIRT1202075	hsa-miR-4754	CLIP-seq
MIRT1202076	hsa-miR-4755-5p	CLIP-seq
MIRT1202077	hsa-miR-4791	CLIP-seq
MIRT1202078	hsa-miR-4796-5p	CLIP-seq
MIRT1202035	hsa-miR-4802-3p	CLIP-seq
MIRT1202036	hsa-miR-490-5p	CLIP-seq
MIRT1202079	hsa-miR-500a	CLIP-seq
MIRT1202080	hsa-miR-5095	CLIP-seq
MIRT1202081	hsa-miR-552	CLIP-seq
MIRT1202082	hsa-miR-608	CLIP-seq
MIRT1202083	hsa-miR-634	CLIP-seq
MIRT1202084	hsa-miR-636	CLIP-seq
MIRT1202085	hsa-miR-643	CLIP-seq
MIRT1202086	hsa-miR-658	CLIP-seq
MIRT1202087	hsa-miR-758	CLIP-seq
MIRT1202088	hsa-miR-876-3p	CLIP-seq
MIRT1202038	hsa-miR-876-5p	CLIP-seq
MIRT2058316	hsa-miR-106a	CLIP-seq
MIRT2058317	hsa-miR-106b	CLIP-seq
MIRT2058318	hsa-miR-1197	CLIP-seq
MIRT1202014	hsa-miR-1246	CLIP-seq
MIRT1202016	hsa-miR-1290	CLIP-seq
MIRT2058319	hsa-miR-137	CLIP-seq
MIRT2058320	hsa-miR-17	CLIP-seq
MIRT1202017	hsa-miR-1910	CLIP-seq
MIRT1202018	hsa-miR-197	CLIP-seq
MIRT1202046	hsa-miR-199a-5p	CLIP-seq
MIRT1202047	hsa-miR-199b-5p	CLIP-seq
MIRT2058321	hsa-miR-20a	CLIP-seq
MIRT2058322	hsa-miR-20b	CLIP-seq
MIRT2058323	hsa-miR-2114	CLIP-seq
MIRT2058324	hsa-miR-2115	CLIP-seq
MIRT2058325	hsa-miR-2682	CLIP-seq
MIRT2058326	hsa-miR-302a	CLIP-seq
MIRT2058327	hsa-miR-302b	CLIP-seq
MIRT2058328	hsa-miR-302c	CLIP-seq
MIRT2058329	hsa-miR-302d	CLIP-seq
MIRT2058330	hsa-miR-302e	CLIP-seq
MIRT2058331	hsa-miR-30a	CLIP-seq
MIRT2058332	hsa-miR-30b	CLIP-seq
MIRT2058333	hsa-miR-30c	CLIP-seq
MIRT2058334	hsa-miR-30d	CLIP-seq
MIRT2058335	hsa-miR-30e	CLIP-seq
MIRT2058336	hsa-miR-3156-5p	CLIP-seq
MIRT1202021	hsa-miR-3167	CLIP-seq
MIRT1202022	hsa-miR-3173-3p	CLIP-seq
MIRT2058337	hsa-miR-365	CLIP-seq
MIRT1202023	hsa-miR-3689d	CLIP-seq
MIRT1202024	hsa-miR-370	CLIP-seq
MIRT2058338	hsa-miR-372	CLIP-seq
MIRT2058339	hsa-miR-373	CLIP-seq
MIRT1202025	hsa-miR-3915	CLIP-seq
MIRT1202026	hsa-miR-3928	CLIP-seq
MIRT2058340	hsa-miR-3973	CLIP-seq
MIRT2058341	hsa-miR-4268	CLIP-seq
MIRT2058342	hsa-miR-4320	CLIP-seq
MIRT2058343	hsa-miR-4330	CLIP-seq
MIRT2058344	hsa-miR-4448	CLIP-seq
MIRT1202028	hsa-miR-4476	CLIP-seq
MIRT2058345	hsa-miR-4495	CLIP-seq
MIRT2058346	hsa-miR-449c	CLIP-seq
MIRT2058347	hsa-miR-4521	CLIP-seq
MIRT1202029	hsa-miR-4533	CLIP-seq
MIRT1202030	hsa-miR-455-3p	CLIP-seq
MIRT1202033	hsa-miR-4663	CLIP-seq
MIRT2058348	hsa-miR-4695-3p	CLIP-seq
MIRT2058349	hsa-miR-4705	CLIP-seq
MIRT1202034	hsa-miR-4717-3p	CLIP-seq
MIRT2058350	hsa-miR-4747-5p	CLIP-seq
MIRT2058351	hsa-miR-4764-3p	CLIP-seq
MIRT1202035	hsa-miR-4802-3p	CLIP-seq
MIRT2058352	hsa-miR-486-5p	CLIP-seq
MIRT1202036	hsa-miR-490-5p	CLIP-seq
MIRT2058353	hsa-miR-502-5p	CLIP-seq
MIRT2058354	hsa-miR-508-3p	CLIP-seq
MIRT2058355	hsa-miR-516a-3p	CLIP-seq
MIRT2058356	hsa-miR-519d	CLIP-seq
MIRT2058357	hsa-miR-520a-3p	CLIP-seq
MIRT2058358	hsa-miR-520b	CLIP-seq
MIRT2058359	hsa-miR-520c-3p	CLIP-seq
MIRT2058360	hsa-miR-520d-3p	CLIP-seq
MIRT2058361	hsa-miR-520e	CLIP-seq
MIRT2058362	hsa-miR-520f	CLIP-seq
MIRT2058363	hsa-miR-520g	CLIP-seq
MIRT2058364	hsa-miR-520h	CLIP-seq
MIRT2058365	hsa-miR-548t	CLIP-seq
MIRT2058366	hsa-miR-618	CLIP-seq
MIRT2058367	hsa-miR-633	CLIP-seq
MIRT1202084	hsa-miR-636	CLIP-seq
MIRT2058368	hsa-miR-645	CLIP-seq
MIRT1202038	hsa-miR-876-5p	CLIP-seq
MIRT2058369	hsa-miR-888	CLIP-seq
MIRT2058370	hsa-miR-93	CLIP-seq
MIRT2058316	hsa-miR-106a	CLIP-seq
MIRT2058317	hsa-miR-106b	CLIP-seq
MIRT2058320	hsa-miR-17	CLIP-seq
MIRT2058321	hsa-miR-20a	CLIP-seq
MIRT2058322	hsa-miR-20b	CLIP-seq
MIRT2058325	hsa-miR-2682	CLIP-seq
MIRT2058346	hsa-miR-449c	CLIP-seq
MIRT2058356	hsa-miR-519d	CLIP-seq
MIRT2058363	hsa-miR-520g	CLIP-seq
MIRT2058364	hsa-miR-520h	CLIP-seq
MIRT2058370	hsa-miR-93	CLIP-seq
MIRT2058325	hsa-miR-2682	CLIP-seq
MIRT1202061	hsa-miR-3679-3p	CLIP-seq
MIRT2058343	hsa-miR-4330	CLIP-seq
MIRT2058346	hsa-miR-449c	CLIP-seq
MIRT1202073	hsa-miR-4724-3p	CLIP-seq
MIRT1202084	hsa-miR-636	CLIP-seq
MIRT2058368	hsa-miR-645	CLIP-seq
MIRT2058316	hsa-miR-106a	CLIP-seq
MIRT2058317	hsa-miR-106b	CLIP-seq
MIRT2391860	hsa-miR-130a	CLIP-seq
MIRT2391861	hsa-miR-130b	CLIP-seq
MIRT2058320	hsa-miR-17	CLIP-seq
MIRT2058321	hsa-miR-20a	CLIP-seq
MIRT2058322	hsa-miR-20b	CLIP-seq
MIRT2391862	hsa-miR-301a	CLIP-seq
MIRT2391863	hsa-miR-301b	CLIP-seq
MIRT2391864	hsa-miR-3179	CLIP-seq
MIRT2391865	hsa-miR-3202	CLIP-seq
MIRT2391866	hsa-miR-3666	CLIP-seq
MIRT2391867	hsa-miR-3936	CLIP-seq
MIRT2391868	hsa-miR-4295	CLIP-seq
MIRT2391869	hsa-miR-454	CLIP-seq
MIRT1202070	hsa-miR-4651	CLIP-seq
MIRT2391870	hsa-miR-519a	CLIP-seq
MIRT2391871	hsa-miR-519b-3p	CLIP-seq
MIRT2391872	hsa-miR-519c-3p	CLIP-seq
MIRT2058356	hsa-miR-519d	CLIP-seq
MIRT2058365	hsa-miR-548t	CLIP-seq
MIRT1202082	hsa-miR-608	CLIP-seq
MIRT2058370	hsa-miR-93	CLIP-seq
MIRT2058331	hsa-miR-30a	CLIP-seq
MIRT2058332	hsa-miR-30b	CLIP-seq
MIRT2058333	hsa-miR-30c	CLIP-seq
MIRT2058334	hsa-miR-30d	CLIP-seq
MIRT2058335	hsa-miR-30e	CLIP-seq
MIRT2058337	hsa-miR-365	CLIP-seq
MIRT2058341	hsa-miR-4268	CLIP-seq
MIRT2058344	hsa-miR-4448	CLIP-seq
MIRT2058345	hsa-miR-4495	CLIP-seq
MIRT2686783	hsa-miR-4742-5p	CLIP-seq
MIRT2686784	hsa-miR-4797-5p	CLIP-seq
MIRT2058352	hsa-miR-486-5p	CLIP-seq
MIRT2058353	hsa-miR-502-5p	CLIP-seq
MIRT2058354	hsa-miR-508-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001701	Process	In utero embryonic development	IEA
GO:0001750	Component	Photoreceptor outer segment	IDA	22543976
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IBA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IEA
GO:0004439	Function	Phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	TAS	7761412
GO:0004445	Function	Inositol-polyphosphate 5-phosphatase activity	IEA
GO:0005096	Function	GTPase activator activity	IDA	12915445
GO:0005515	Function	Protein binding	IPI	12915445, 16902405, 19536138, 21233288, 21378754, 22543976, 25107275, 25869668, 26496610, 26824392, 27107012, 28514442, 29125462, 30905672, 32296183, 33961781, 35271311
GO:0005634	Component	Nucleus	IDA	12915445
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	12915445
GO:0005764	Component	Lysosome	IEA
GO:0005768	Component	Endosome	IEA
GO:0005769	Component	Early endosome	IDA	21233288, 25869668
GO:0005794	Component	Golgi apparatus	IEA
GO:0005795	Component	Golgi stack	TAS	1840503
GO:0005798	Component	Golgi-associated vesicle	TAS	1840503
GO:0005802	Component	Trans-Golgi network	IDA	12915445
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	12915445
GO:0005905	Component	Clathrin-coated pit	IEA
GO:0005929	Component	Cilium	IDA
GO:0005929	Component	Cilium	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	NAS	1321346
GO:0006629	Process	Lipid metabolic process	TAS	7761412
GO:0006661	Process	Phosphatidylinositol biosynthetic process	TAS
GO:0007165	Process	Signal transduction	IEA
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016791	Function	Phosphatase activity	IEA
GO:0030030	Process	Cell projection organization	IEA
GO:0030136	Component	Clathrin-coated vesicle	IDA	21233288, 25869668
GO:0030670	Component	Phagocytic vesicle membrane	IEA
GO:0031267	Function	Small GTPase binding	IPI	12915445
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0031901	Component	Early endosome membrane	IEA
GO:0034451	Component	Centriolar satellite	IDA
GO:0034485	Function	Phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0034593	Function	Phosphatidylinositol bisphosphate phosphatase activity	IEA
GO:0034595	Function	Phosphatidylinositol phosphate 5-phosphatase activity	IEA
GO:0034596	Function	Phosphatidylinositol phosphate 4-phosphatase activity	TAS
GO:0036064	Component	Ciliary basal body	IDA
GO:0036092	Process	Phosphatidylinositol-3-phosphate biosynthetic process	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043647	Process	Inositol phosphate metabolic process	IEA
GO:0043647	Process	Inositol phosphate metabolic process	TAS
GO:0043813	Function	Phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	TAS
GO:0046488	Process	Phosphatidylinositol metabolic process	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0046856	Process	Phosphatidylinositol dephosphorylation	IEA
GO:0052658	Function	Inositol-1,4,5-trisphosphate 5-phosphatase activity	IEA
GO:0052658	Function	Inositol-1,4,5-trisphosphate 5-phosphatase activity	TAS
GO:0052659	Function	Inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity	IEA
GO:0052745	Function	Inositol phosphate phosphatase activity	IDA	25869668
GO:0052745	Function	Inositol phosphate phosphatase activity	IEA
GO:0052745	Function	Inositol phosphate phosphatase activity	NAS	1321346
GO:0060271	Process	Cilium assembly	IMP	22228094, 22543976
GO:0061024	Process	Membrane organization	TAS

Other IDs

• MIM: 300535
• HGNC: 8108
• e!Ensembl: ENSG00000122126

Protein

• UniProt ID: Q01968
• Protein name: Inositol polyphosphate 5-phosphatase OCRL (EC 3.1.3.36) (EC 3.1.3.56) (Inositol polyphosphate 5-phosphatase OCRL-1) (OCRL-1) (Lowe oculocerebrorenal syndrome protein) (Phosphatidylinositol 3,4,5-triphosphate 5-phosphatase) (EC 3.1.3.86)
• Protein function: Catalyzes the hydrolysis of the 5-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2 (PubMed:10764
• PDB: 2KIE, 2QV2, 3QBT, 3QIS, 4CMN
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF16726	OCRL_clath_bd	18 → 118	Inositol polyphosphate 5-phosphatase clathrin binding domain	Domain
  PF03372	Exo_endo_phos	245 → 524	Endonuclease/Exonuclease/phosphatase family	Domain
  PF00620	RhoGAP	735 → 878	RhoGAP domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium. {ECO:0000269|PubMed:22543976}.
• Sequence:

  MEPPLPVGAQPLATVEGMEMKGPLREPCALTLAQRNGQYELIIQLHEKEQHVQDIIPINS
  HFRCVQEAEETLLIDIASNSGCKIRVQGDWIRERRFEIPDEEHCLKFLSAVLAAQKAQSQ
  LLVPEQKDSSSWYQKLDTKDKPSVFSGLLGFEDNFSSMNLDKKINSQNQPTGIHREPPPP
  PFSVNKMLPREKEASNKEQPKVTNTMRKLFVPNTQSGQREGLIKHILAKREKEYVNIQTF
  RFFVGTWNVNGQSPDSGLEPWLNCDPNPPDIYCIGFQELDLSTEAFFYFESVKEQEWSMA
  VERGLHSKAKYKKVQLVRLVGMMLLIFARKDQCRYIRDIATETVGTGIMGKMGNKGGVAV
  RFVFHNTTFCIVNSHLAAHVEDFERRNQDYKDICARMSFVVPNQTLPQLNIMKHEVVIWL
  GDLNYRLCMPDANEVKSLINKKDLQRLLKFDQLNIQRTQKKAFVDFNEGEIKFIPTYKYD
  SKTDRWDSSGKCRVPAWCDRILWRGTNVNQLNYRSHMELKTSDHKPVSALFHIGVKVVDE
  RRYRKVFEDSVRIMDRMENDFLPSLELSRREFVFENVKFRQLQKEKFQISNNGQVPCHFS
  FIPKLNDSQYCKPWLRAEPFEGYLEPNETVDISLDVYVSKDSVTILNSGEDKIEDILVLH
  LDRGKDYFLTISGNYLPSCFGTSLEALCRMKRPIREVPVTKLIDLEEDSFLEKEKSLLQM
  VPLDEGASERPLQVPKEIWLLVDHLFKYACHQEDLFQTPGMQEELQQIIDCLDTSIPETI
  PGSNHSVAEALLIFLEALPEPVICYELYQRCLDSAYDPRICRQVISQLPRCHRNVFRYLM
  AFLRELLKFSEYNSVNANMIATLFTSLLLRPPPNLMARQTPSDRQRAIQFLLGFLLGSEE
  D

• Sequence length: 901

Pathways

KEGG:

Inositol phosphate metabolism
Metabolic pathways
Phosphatidylinositol signaling system

Reactome:

Synthesis of PIPs at the plasma membrane
Synthesis of PIPs at the Golgi membrane
Synthesis of IP2, IP, and Ins in the cytosol
Synthesis of IP3 and IP4 in the cytosol
Rho GTPase cycle
Golgi Associated Vesicle Biogenesis
Clathrin-mediated endocytosis

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
Dent disease	Likely pathogenic	rs2521906486, rs398123289	RCV002308512 RCV002510447	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dent disease type 2	Likely pathogenic; Pathogenic	rs2124405779, rs2124419087, rs2124417909, rs2124392540, rs2124410812, rs2521838917, rs2521943150, rs2521838949, rs387906484, rs137853262, rs137853263, rs776743373, rs2521906062, rs2521889422, rs2521873170, rs1057521742, rs2124412922, rs2124388022, rs1556338810, rs1569458883, rs1569463775, rs1602819835, rs137853846, rs137853829, rs1936370877, rs1936163310, rs1936192276, rs1602782082	RCV002479582 RCV005042508 RCV002249115 RCV002250163 RCV002250164 RCV002789967 RCV002790044 RCV003226111 RCV002496327 RCV000011607 RCV000011608 RCV000590981 RCV003233044 RCV003237319 RCV003991352 RCV001543673 RCV000022864 RCV000022865 RCV000662294 RCV006249671 RCV005046987 RCV000851318 RCV000059593 RCV005042183 RCV001200920 RCV002504318 RCV001251424 RCV001328163	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Developmental cataract	Pathogenic	rs2124446919	RCV001763536	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lowe syndrome	Pathogenic; Likely pathogenic	rs2124404113, rs2124409486, rs2124404136, rs2124402634, rs2124429175, rs2124404743, rs2124418946, rs2124412861, rs2124412937, rs2124404250, rs2124405779, rs2124428298, rs2124430527, rs2124419087, rs2124402639, rs2124404819, rs2124419015, rs2521890316, rs2521890405, rs794727182, rs794727333, rs2521922221, rs2521918360, rs2521918354, rs2521906144, rs2521918290, rs2521945695, rs2521888798, rs2521920444, rs2521889054, rs2521878560, rs387906484, rs137853260, rs137853261, rs137853263, rs886039518, rs886039519, rs776743373, rs2521889385, rs2521920142, rs2521879319, rs2521855742, rs2521945685, rs2521920631, rs1427698686, rs2521877464, rs2521873405, rs2521906115, rs2521889771, rs2521949990, rs2521920349, rs2521906131, rs1057515577, rs1556345889, rs1556346316, rs1182741031, rs935956958, rs1569458883, rs1569463775, rs1602782195, rs1602791255, rs1602819835, rs1602820970, rs398123287, rs1602802640, rs1602802472, rs137853852, rs137853858, rs137853829, rs1602783564, rs1936362098, rs1936553500, rs1936131926, rs1936103770, rs1936163310, rs1936229983	RCV001387353 RCV001387031 RCV001420679 RCV001526506 RCV001526507 RCV001730046 RCV001754578 RCV001849667 RCV001960629 RCV001917432 RCV001950771 RCV001977225 RCV002040470 RCV001925739 RCV001967689 RCV001956495 RCV002250972 RCV002471387 RCV002472245 RCV003041481 RCV001380038 RCV001852169 RCV002510697 RCV002791887 RCV002870808 RCV002875659 RCV002889535 RCV002872306 RCV002903369 RCV003025651 RCV003151704 RCV003224765 RCV000011604 RCV000011605 RCV000011606 RCV000059607 RCV001855009 RCV002510570 RCV000590981 RCV003314274 RCV003388760 RCV003444434 RCV003511020 RCV003509373 RCV003510104 RCV003622649 RCV003622913 RCV003623439 RCV003622371 RCV003985218 RCV003988750 RCV004547385 RCV004595848 RCV000408904 RCV000541094 RCV000591698 RCV000680054 RCV000687544 RCV000701856 RCV000768436 RCV000791535 RCV000806128 RCV000794610 RCV000814175 RCV000824979 RCV000850186 RCV000850187 RCV000059600 RCV000059601 RCV000059605 RCV001029771 RCV001049745 RCV001036352 RCV001095682 RCV001172281 RCV001234126 RCV001264796	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nephrolithiasis/nephrocalcinosis	Likely pathogenic; Pathogenic	rs2124417909, rs1182741031	RCV004060582 RCV004025269	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs776743373	RCV002274006	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2124428298, rs2124417909, rs2124430527, rs398123289	RCV005925423 RCV005930051 RCV005931979 RCV005886181	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
OCRL-related disorder	Likely pathogenic; Pathogenic	rs2124405779, rs137853263, rs2521872975	RCV005868491 RCV004752699 RCV003408613	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thyroid cancer, nonmedullary, 1	Likely pathogenic; Pathogenic	rs2124430527, rs398123289, rs2521889422, rs137853263, rs1936163310	RCV005931980 RCV005932000 RCV005930813 RCV005901602 RCV005909105 RCV005886182	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENT DISEASE 2	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Epilepsy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Genetic developmental and epileptic encephalopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual developmental disorder, autosomal dominant 65	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Intellectual disability	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULOCEREBRORENAL SYNDROME	—	CTD, ClinGen, Disgenet, GenCC CTD, ClinGen, Disgenet, GenCC CTD, ClinGen, Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OCULOCEREBRORENAL SYNDROME OF LOWE	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adult Fanconi syndrome	Fanconi syndrome	BEFREE	28669993		★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adult Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	30147856, 32393163	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	22965764		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	22965764	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bartter Syndrome	Bartter syndrome	Pubtator	35549682	Associate	★☆☆☆☆ Found in Text Mining only
Benign neoplasm of central nervous system	Benign Neoplasm Of Nervous System	HPO_DG			★☆☆☆☆ Found in Text Mining only
Biliary Atresia	Biliary atresia	Pubtator	34750413	Associate	★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	30147856	Associate	★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	35023542	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	15627218, 17162149, 21822997, 23805271, 28991511		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	15627218, 22907655, 28473699, 30713423, 37189363, 9199559	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cheilitis	Cheilitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	27708066		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	HPO_DG			★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	29444177	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	19168822		★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	20872266, 21822997, 24614960, 30590522, 9593760		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital musculoskeletal anomalies	Congenital Musculoskeletal Anomalies	BEFREE	9632163		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	18038239		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	21901156		★☆☆☆☆ Found in Text Mining only
De Toni-Debre-Fanconi Syndrome	Fanconi Syndrome	BEFREE	24614960, 25485598, 31811534		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	25917196		★☆☆☆☆ Found in Text Mining only
Dent Disease	Dent disease	Pubtator	15627218, 18480301, 20133602, 21031565, 23047739, 25107275, 26108450, 27174143, 32495484, 32533415, 32666344, 33430795, 34069732, 34680992, 35098431, 35612621, 39582457	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dent disease 1	Dent`s Disease	BEFREE	18038239, 20946626, 24912603		★☆☆☆☆ Found in Text Mining only
Dent Disease 2	Dent`s Disease	GENOMICS_ENGLAND_DG	10364518, 15627218, 17384968, 27625797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dent Disease 2	Dent`s Disease	UNIPROT_DG	15627218, 17384968, 21031565		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dent Disease 2	Dent`s Disease	CLINVAR_DG	15627218, 17162149, 17384968, 21031565, 24081861, 28018608		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dent Disease 2	Dent disease	Pubtator	21031565, 21233288, 21666675, 23047739, 23947751, 32666344, 33430795, 35098431, 35549682, 35919034	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dent Disease 2	Dent`s Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dent disease type 2	Dent`s Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dent disease type 2	Dent`s Disease	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dental Enamel Hypoplasia	Dental Enamel Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	34047002	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus	Diabetes Insipidus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysphasia	Dysphasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Erythroblastosis, Fetal	Erythroblastosis Fetalis	BEFREE	17002624		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	24614960, 25485598, 31811534		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi Syndrome	BEFREE	24614960, 25485598, 31811534		★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	25485598, 33430795, 9199559	Associate	★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gingivitis	Gingivitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	23805271		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	28473699	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glaucoma 3 Primary Congenital A	Glaucoma	Pubtator	28473699	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	25502460	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30695232		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30695232		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	18038239		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glycosuria Renal	Renal glycosuria	Pubtator	21233288	Associate	★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	BEFREE	28473699		★☆☆☆☆ Found in Text Mining only
Hydrophthalmos	Glaucoma, congenital	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypercalciuria	Hypercalciuria	Pubtator	18480301	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperparathyroidism	Hyperparathyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoammonemia	Hypoammonemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	12915445, 15627218, 22907655, 30590522, 9632163		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Intellectual developmental disorder	Pubtator	15627218, 22907655, 37189363, 9199559	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual Disability	Mental retardation	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney disease	Pubtator	28117080, 37189363, 39294589	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	21901156		★☆☆☆☆ Found in Text Mining only
Leigh Disease	Leigh syndrome	Pubtator	29444177	Associate	★☆☆☆☆ Found in Text Mining only
Lentiglobus	Lentiglobus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	37172724	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development, Group II	Malformation of cortical development	BEFREE	19700499		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	12915445, 15627218, 9632163		★☆☆☆☆ Found in Text Mining only
Mental Retardation, X-Linked	Mental retardation	BEFREE	12915445		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	BEFREE	21249396		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37172724	Associate	★☆☆☆☆ Found in Text Mining only
Multiple renal cysts	Multiple renal cysts	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	18480301		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic syndrome	Pubtator	28117080	Associate	★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	28473699	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	BEFREE	10210129, 10364518, 10923037, 11149618, 12829232, 12915445, 15108291, 15627218, 15917292, 16101675, 16722554, 16777452, 17142121, 17162149, 18038239, 18307981, 18480301, 18500547, 19168822, 19272022, 19380077, 19390221, 19582483, 19700499, 19701229, 19773212, 20043897, 20872266, 20946626, 21031565, 21225285, 21233288, 21249396, 21378754, 21448331, 21666675, 21706022, 21854507, 21901156, 21971085, 22228094, 22381590, 22543976, 22821049, 22907655, 22965764, 23389333, 23805271, 23947751, 24081861, 24499450, 24614960, 24912603, 25107275, 25297642, 25305077, 25485598, 26510499, 27011217, 27059748, 27398910, 27708066, 27757584, 27790796, 28473699, 28669993, 28803024, 28871046, 28991511, 29300302, 29602783, 30590522, 30799246, 31034465, 31118240, 31189610, 31216233, 31376231, 31676724, 7573041, 8504307, 9199559, 9593760, 9632163, 9682219, 9788721, 9915833		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	CLINVAR_DG	10364518, 17765681, 21031565, 22381590, 25480730, 28973083, 8504307		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	10364518, 12428211, 15627218, 16902405, 18480301, 19773212, 20133602, 21031565, 21233288, 21378754, 21448331, 21666675, 22907655, 23047739, 23947751, 24614960, 25107275, 28473699, 29444177, 30147856, 30650973, 30713423, 31034465, 31376231, 31484968, 31676724, 31707643, 32340490, 32393163, 33517444, 33540283, 33765594, 34047002, 34069732, 34680992, 35023542, 35098431, 35919034, 37172724, 37189363, 38557732, 39294589, 9199559	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	UNIPROT_DG	10767176, 10923037, 19168822, 20133602, 21031565, 21233288, 9199559, 9632163, 9682219, 9788721		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	LHGDN	12428211, 16420990, 18500547		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	GENOMICS_ENGLAND_DG	15627218, 17384968, 19168822, 24357685, 27625797		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocerebrorenal Syndrome	Oculocerebrorenal Syndrome	CTD_human_DG	9430698		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculocerebrorenal syndrome of Lowe	Oculocerebrorenal Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Odontogenic Tumors	Odontogenic Tumor	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency	Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency	CTD_human_DG	9430698		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	18480301, 24614960, 31676724, 33430795	Associate	★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Type II	Renal Tubular Acidosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	34680992	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	30147856	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stereotyped Behavior	Stereotyped Behavior	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Subcortical Band Heterotopia	Subcortical Band Heterotopia	BEFREE	19380077		★☆☆☆☆ Found in Text Mining only
Taurodontism	Taurodontism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	21448331		★☆☆☆☆ Found in Text Mining only