Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	55023
Gene name	PHIP subunit of CUL4-Ring ligase complex
Gene symbol	PHIP
Synonyms (NCBI Gene)	BRWD2CHUJANSDCAF14DIDODRepIDWDR11ndrp
Chromosome	6
Chromosome location	6q14.1
Summary	This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy

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SNP ID	Visualize variation	Clinical significance	Consequence
rs565098856	G>A	Pathogenic	5 prime UTR variant, stop gained, coding sequence variant
rs755604487	G>A,C	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs768324201	G>A,T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs774075356	A>G,T	Likely-pathogenic	Synonymous variant, 5 prime UTR variant, stop gained, coding sequence variant
rs878854420	A>G	Pathogenic, likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs878854421	A>-	Pathogenic, likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs1057518337	T>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1064796868	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant, 5 prime UTR variant
rs1064796911	AG>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1085307845	G>T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1554210066	C>-	Pathogenic, not-provided	Splice donor variant
rs1554210073	GT>A	Likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1554210094	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1554212744	AA>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1562150844	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562171209	T>C	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1562189451	A>C	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs1562203136	->T	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1582164609	CTTT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1582175173	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1582206547	->A	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant

534

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miRTarBase ID	miRNA	Experiments	Reference
MIRT030661	hsa-miR-21-5p	Microarray	18591254
MIRT031492	hsa-miR-16-5p	Proteomics	18668040
MIRT036739	hsa-miR-760	CLASH	23622248
MIRT521921	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT219329	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT521920	hsa-miR-6074	PAR-CLIP	20371350
MIRT555640	hsa-miR-664a-3p	PAR-CLIP	20371350
MIRT521917	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT566431	hsa-miR-3924	PAR-CLIP	20371350
MIRT521914	hsa-miR-6083	PAR-CLIP	20371350
MIRT521923	hsa-miR-3133	PAR-CLIP	21572407
MIRT521922	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT521920	hsa-miR-6074	PAR-CLIP	21572407
MIRT555640	hsa-miR-664a-3p	PAR-CLIP	21572407
MIRT521919	hsa-miR-4729	PAR-CLIP	21572407
MIRT521918	hsa-miR-4795-5p	PAR-CLIP	21572407
MIRT555639	hsa-miR-5696	PAR-CLIP	21572407
MIRT555638	hsa-miR-579-3p	PAR-CLIP	21572407
MIRT555637	hsa-miR-664b-3p	PAR-CLIP	21572407
MIRT521916	hsa-miR-3616-5p	PAR-CLIP	21572407
MIRT521915	hsa-miR-573	PAR-CLIP	21572407
MIRT521921	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT521920	hsa-miR-6074	PAR-CLIP	21572407
MIRT555640	hsa-miR-664a-3p	PAR-CLIP	21572407
MIRT521917	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT555639	hsa-miR-5696	PAR-CLIP	21572407
MIRT555638	hsa-miR-579-3p	PAR-CLIP	21572407
MIRT555637	hsa-miR-664b-3p	PAR-CLIP	21572407
MIRT521914	hsa-miR-6083	PAR-CLIP	21572407
MIRT521923	hsa-miR-3133	PAR-CLIP	23446348
MIRT521922	hsa-miR-186-5p	PAR-CLIP	23446348
MIRT521921	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT521920	hsa-miR-6074	PAR-CLIP	23446348
MIRT521919	hsa-miR-4729	PAR-CLIP	23446348
MIRT521918	hsa-miR-4795-5p	PAR-CLIP	23446348
MIRT521917	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT521916	hsa-miR-3616-5p	PAR-CLIP	23446348
MIRT521915	hsa-miR-573	PAR-CLIP	23446348
MIRT521914	hsa-miR-6083	PAR-CLIP	23446348
MIRT521913	hsa-miR-545-3p	PAR-CLIP	23446348
MIRT443687	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT443686	hsa-miR-3163	PAR-CLIP	22100165
MIRT439986	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT439986	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT521921	hsa-miR-1277-5p	PAR-CLIP	20371350
MIRT219329	hsa-miR-5011-5p	PAR-CLIP	20371350
MIRT521920	hsa-miR-6074	PAR-CLIP	20371350
MIRT555640	hsa-miR-664a-3p	PAR-CLIP	20371350
MIRT521917	hsa-miR-190a-3p	PAR-CLIP	20371350
MIRT566431	hsa-miR-3924	PAR-CLIP	20371350
MIRT521914	hsa-miR-6083	PAR-CLIP	20371350
MIRT521923	hsa-miR-3133	PAR-CLIP	21572407
MIRT521922	hsa-miR-186-5p	PAR-CLIP	21572407
MIRT521920	hsa-miR-6074	PAR-CLIP	21572407
MIRT555640	hsa-miR-664a-3p	PAR-CLIP	21572407
MIRT521919	hsa-miR-4729	PAR-CLIP	21572407
MIRT521918	hsa-miR-4795-5p	PAR-CLIP	21572407
MIRT555639	hsa-miR-5696	PAR-CLIP	21572407
MIRT555638	hsa-miR-579-3p	PAR-CLIP	21572407
MIRT555637	hsa-miR-664b-3p	PAR-CLIP	21572407
MIRT521916	hsa-miR-3616-5p	PAR-CLIP	21572407
MIRT521915	hsa-miR-573	PAR-CLIP	21572407
MIRT521921	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT521920	hsa-miR-6074	PAR-CLIP	21572407
MIRT555640	hsa-miR-664a-3p	PAR-CLIP	21572407
MIRT521917	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT555639	hsa-miR-5696	PAR-CLIP	21572407
MIRT555638	hsa-miR-579-3p	PAR-CLIP	21572407
MIRT555637	hsa-miR-664b-3p	PAR-CLIP	21572407
MIRT521914	hsa-miR-6083	PAR-CLIP	21572407
MIRT521923	hsa-miR-3133	PAR-CLIP	23446348
MIRT521922	hsa-miR-186-5p	PAR-CLIP	23446348
MIRT521921	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT521920	hsa-miR-6074	PAR-CLIP	23446348
MIRT521919	hsa-miR-4729	PAR-CLIP	23446348
MIRT521918	hsa-miR-4795-5p	PAR-CLIP	23446348
MIRT521917	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT521916	hsa-miR-3616-5p	PAR-CLIP	23446348
MIRT521915	hsa-miR-573	PAR-CLIP	23446348
MIRT521914	hsa-miR-6083	PAR-CLIP	23446348
MIRT521913	hsa-miR-545-3p	PAR-CLIP	23446348
MIRT443687	hsa-miR-548e-5p	PAR-CLIP	22100165
MIRT443686	hsa-miR-3163	PAR-CLIP	22100165
MIRT1231375	hsa-miR-105	CLIP-seq
MIRT1231376	hsa-miR-1225-5p	CLIP-seq
MIRT1231377	hsa-miR-1245b-3p	CLIP-seq
MIRT1231378	hsa-miR-1252	CLIP-seq
MIRT1231379	hsa-miR-1271	CLIP-seq
MIRT1231380	hsa-miR-1298	CLIP-seq
MIRT1231381	hsa-miR-1299	CLIP-seq
MIRT1231382	hsa-miR-132	CLIP-seq
MIRT1231383	hsa-miR-1323	CLIP-seq
MIRT1231384	hsa-miR-140-3p	CLIP-seq
MIRT1231385	hsa-miR-15a	CLIP-seq
MIRT1231386	hsa-miR-15b	CLIP-seq
MIRT1231387	hsa-miR-16	CLIP-seq
MIRT1231388	hsa-miR-181a	CLIP-seq
MIRT1231389	hsa-miR-181b	CLIP-seq
MIRT1231390	hsa-miR-181c	CLIP-seq
MIRT1231391	hsa-miR-181d	CLIP-seq
MIRT1231392	hsa-miR-182	CLIP-seq
MIRT1231393	hsa-miR-186	CLIP-seq
MIRT1231394	hsa-miR-192	CLIP-seq
MIRT1231395	hsa-miR-194	CLIP-seq
MIRT1231396	hsa-miR-195	CLIP-seq
MIRT1231397	hsa-miR-203	CLIP-seq
MIRT1231398	hsa-miR-212	CLIP-seq
MIRT1231399	hsa-miR-215	CLIP-seq
MIRT1231400	hsa-miR-218	CLIP-seq
MIRT1231401	hsa-miR-2276	CLIP-seq
MIRT1231402	hsa-miR-25	CLIP-seq
MIRT1231403	hsa-miR-27a	CLIP-seq
MIRT1231404	hsa-miR-27b	CLIP-seq
MIRT1231405	hsa-miR-298	CLIP-seq
MIRT1231406	hsa-miR-299-5p	CLIP-seq
MIRT1231407	hsa-miR-30a	CLIP-seq
MIRT1231408	hsa-miR-30b	CLIP-seq
MIRT1231409	hsa-miR-30c	CLIP-seq
MIRT1231410	hsa-miR-30d	CLIP-seq
MIRT1231411	hsa-miR-30e	CLIP-seq
MIRT1231412	hsa-miR-3121-3p	CLIP-seq
MIRT1231413	hsa-miR-3126-5p	CLIP-seq
MIRT1231414	hsa-miR-3132	CLIP-seq
MIRT1231415	hsa-miR-3143	CLIP-seq
MIRT1231416	hsa-miR-3145-5p	CLIP-seq
MIRT1231417	hsa-miR-3148	CLIP-seq
MIRT1231418	hsa-miR-3149	CLIP-seq
MIRT1231419	hsa-miR-3156-5p	CLIP-seq
MIRT1231420	hsa-miR-3158-5p	CLIP-seq
MIRT1231421	hsa-miR-3161	CLIP-seq
MIRT1231422	hsa-miR-3162-3p	CLIP-seq
MIRT1231423	hsa-miR-3168	CLIP-seq
MIRT1231424	hsa-miR-32	CLIP-seq
MIRT1231425	hsa-miR-338-3p	CLIP-seq
MIRT1231426	hsa-miR-34b	CLIP-seq
MIRT1231427	hsa-miR-34c-3p	CLIP-seq
MIRT1231428	hsa-miR-363	CLIP-seq
MIRT1231429	hsa-miR-3646	CLIP-seq
MIRT1231430	hsa-miR-3647-3p	CLIP-seq
MIRT1231431	hsa-miR-367	CLIP-seq
MIRT1231432	hsa-miR-3682-5p	CLIP-seq
MIRT1231433	hsa-miR-3686	CLIP-seq
MIRT1231434	hsa-miR-3692	CLIP-seq
MIRT1231435	hsa-miR-376c	CLIP-seq
MIRT1231436	hsa-miR-3938	CLIP-seq
MIRT1231437	hsa-miR-3941	CLIP-seq
MIRT1231438	hsa-miR-412	CLIP-seq
MIRT1231439	hsa-miR-424	CLIP-seq
MIRT1231440	hsa-miR-4255	CLIP-seq
MIRT1231441	hsa-miR-4257	CLIP-seq
MIRT1231442	hsa-miR-4262	CLIP-seq
MIRT1231443	hsa-miR-4264	CLIP-seq
MIRT1231444	hsa-miR-4267	CLIP-seq
MIRT1231445	hsa-miR-4277	CLIP-seq
MIRT1231446	hsa-miR-4418	CLIP-seq
MIRT1231447	hsa-miR-4419a	CLIP-seq
MIRT1231448	hsa-miR-4475	CLIP-seq
MIRT1231449	hsa-miR-4510	CLIP-seq
MIRT1231450	hsa-miR-4520a-3p	CLIP-seq
MIRT1231451	hsa-miR-4521	CLIP-seq
MIRT1231452	hsa-miR-4533	CLIP-seq
MIRT1231453	hsa-miR-4643	CLIP-seq
MIRT1231454	hsa-miR-4645-3p	CLIP-seq
MIRT1231455	hsa-miR-4650-3p	CLIP-seq
MIRT1231456	hsa-miR-4652-3p	CLIP-seq
MIRT1231457	hsa-miR-466	CLIP-seq
MIRT1231458	hsa-miR-4672	CLIP-seq
MIRT1231459	hsa-miR-4694-3p	CLIP-seq
MIRT1231460	hsa-miR-4708-3p	CLIP-seq
MIRT1231461	hsa-miR-4711-5p	CLIP-seq
MIRT1231462	hsa-miR-4716-5p	CLIP-seq
MIRT1231463	hsa-miR-4719	CLIP-seq
MIRT1231464	hsa-miR-4720-3p	CLIP-seq
MIRT1231465	hsa-miR-4738-3p	CLIP-seq
MIRT1231466	hsa-miR-4766-5p	CLIP-seq
MIRT1231467	hsa-miR-4768-3p	CLIP-seq
MIRT1231468	hsa-miR-4775	CLIP-seq
MIRT1231469	hsa-miR-4777-5p	CLIP-seq
MIRT1231470	hsa-miR-4789-3p	CLIP-seq
MIRT1231471	hsa-miR-4797-3p	CLIP-seq
MIRT1231472	hsa-miR-4803	CLIP-seq
MIRT1231473	hsa-miR-4804-3p	CLIP-seq
MIRT1231474	hsa-miR-483-3p	CLIP-seq
MIRT1231475	hsa-miR-491-3p	CLIP-seq
MIRT1231476	hsa-miR-495	CLIP-seq
MIRT1231477	hsa-miR-497	CLIP-seq
MIRT1231478	hsa-miR-508-5p	CLIP-seq
MIRT1231479	hsa-miR-509-3-5p	CLIP-seq
MIRT1231480	hsa-miR-509-5p	CLIP-seq
MIRT1231481	hsa-miR-513a-5p	CLIP-seq
MIRT1231482	hsa-miR-518d-5p	CLIP-seq
MIRT1231483	hsa-miR-519b-5p	CLIP-seq
MIRT1231484	hsa-miR-519c-5p	CLIP-seq
MIRT1231485	hsa-miR-520c-5p	CLIP-seq
MIRT1231486	hsa-miR-520d-5p	CLIP-seq
MIRT1231487	hsa-miR-520g	CLIP-seq
MIRT1231488	hsa-miR-520h	CLIP-seq
MIRT1231489	hsa-miR-522	CLIP-seq
MIRT1231490	hsa-miR-524-5p	CLIP-seq
MIRT1231491	hsa-miR-526a	CLIP-seq
MIRT1231492	hsa-miR-543	CLIP-seq
MIRT1231493	hsa-miR-548o	CLIP-seq
MIRT1231494	hsa-miR-548p	CLIP-seq
MIRT1231495	hsa-miR-548t	CLIP-seq
MIRT1231496	hsa-miR-568	CLIP-seq
MIRT1231497	hsa-miR-578	CLIP-seq
MIRT1231498	hsa-miR-586	CLIP-seq
MIRT1231499	hsa-miR-590-3p	CLIP-seq
MIRT1231500	hsa-miR-605	CLIP-seq
MIRT1231501	hsa-miR-622	CLIP-seq
MIRT1231502	hsa-miR-630	CLIP-seq
MIRT1231503	hsa-miR-634	CLIP-seq
MIRT1231504	hsa-miR-635	CLIP-seq
MIRT1231505	hsa-miR-636	CLIP-seq
MIRT1231506	hsa-miR-664	CLIP-seq
MIRT1231507	hsa-miR-875-3p	CLIP-seq
MIRT1231508	hsa-miR-9	CLIP-seq
MIRT1231509	hsa-miR-92a	CLIP-seq
MIRT1231510	hsa-miR-92b	CLIP-seq
MIRT1231511	hsa-miR-96	CLIP-seq
MIRT2067905	hsa-miR-106a	CLIP-seq
MIRT2067906	hsa-miR-106b	CLIP-seq
MIRT1231377	hsa-miR-1245b-3p	CLIP-seq
MIRT2067907	hsa-miR-1284	CLIP-seq
MIRT1231382	hsa-miR-132	CLIP-seq
MIRT2067908	hsa-miR-144	CLIP-seq
MIRT2067909	hsa-miR-17	CLIP-seq
MIRT1231388	hsa-miR-181a	CLIP-seq
MIRT1231389	hsa-miR-181b	CLIP-seq
MIRT1231390	hsa-miR-181c	CLIP-seq
MIRT1231391	hsa-miR-181d	CLIP-seq
MIRT1231393	hsa-miR-186	CLIP-seq
MIRT2067910	hsa-miR-190	CLIP-seq
MIRT2067911	hsa-miR-190b	CLIP-seq
MIRT2067912	hsa-miR-1910	CLIP-seq
MIRT1231395	hsa-miR-194	CLIP-seq
MIRT1231397	hsa-miR-203	CLIP-seq
MIRT2067913	hsa-miR-20a	CLIP-seq
MIRT2067914	hsa-miR-20b	CLIP-seq
MIRT1231398	hsa-miR-212	CLIP-seq
MIRT2067915	hsa-miR-219-2-3p	CLIP-seq
MIRT2067916	hsa-miR-2909	CLIP-seq
MIRT1231405	hsa-miR-298	CLIP-seq
MIRT1231406	hsa-miR-299-5p	CLIP-seq
MIRT2067917	hsa-miR-3074-5p	CLIP-seq
MIRT1231407	hsa-miR-30a	CLIP-seq
MIRT1231408	hsa-miR-30b	CLIP-seq
MIRT1231409	hsa-miR-30c	CLIP-seq
MIRT1231410	hsa-miR-30d	CLIP-seq
MIRT1231411	hsa-miR-30e	CLIP-seq
MIRT1231412	hsa-miR-3121-3p	CLIP-seq
MIRT1231415	hsa-miR-3143	CLIP-seq
MIRT2067918	hsa-miR-3145-3p	CLIP-seq
MIRT1231416	hsa-miR-3145-5p	CLIP-seq
MIRT1231423	hsa-miR-3168	CLIP-seq
MIRT2067919	hsa-miR-3192	CLIP-seq
MIRT2067920	hsa-miR-3199	CLIP-seq
MIRT1231425	hsa-miR-338-3p	CLIP-seq
MIRT1231430	hsa-miR-3647-3p	CLIP-seq
MIRT2067921	hsa-miR-3650	CLIP-seq
MIRT2067922	hsa-miR-3674	CLIP-seq
MIRT2067923	hsa-miR-3689a-5p	CLIP-seq
MIRT2067924	hsa-miR-3689b	CLIP-seq
MIRT2067925	hsa-miR-3689e	CLIP-seq
MIRT2067926	hsa-miR-3689f	CLIP-seq
MIRT2067927	hsa-miR-3691-3p	CLIP-seq
MIRT1231434	hsa-miR-3692	CLIP-seq
MIRT2067928	hsa-miR-369-3p	CLIP-seq
MIRT2067929	hsa-miR-374a	CLIP-seq
MIRT2067930	hsa-miR-374b	CLIP-seq
MIRT1231435	hsa-miR-376c	CLIP-seq
MIRT2067931	hsa-miR-3908	CLIP-seq
MIRT1231437	hsa-miR-3941	CLIP-seq
MIRT2067932	hsa-miR-4261	CLIP-seq
MIRT1231442	hsa-miR-4262	CLIP-seq
MIRT2067933	hsa-miR-4299	CLIP-seq
MIRT2067934	hsa-miR-4314	CLIP-seq
MIRT2067935	hsa-miR-4328	CLIP-seq
MIRT2067936	hsa-miR-4330	CLIP-seq
MIRT2067937	hsa-miR-4421	CLIP-seq
MIRT2067938	hsa-miR-4436b-5p	CLIP-seq
MIRT2067939	hsa-miR-4456	CLIP-seq
MIRT2067940	hsa-miR-4517	CLIP-seq
MIRT1231453	hsa-miR-4643	CLIP-seq
MIRT1231454	hsa-miR-4645-3p	CLIP-seq
MIRT2067941	hsa-miR-4646-5p	CLIP-seq
MIRT2067942	hsa-miR-4653-3p	CLIP-seq
MIRT2067943	hsa-miR-4658	CLIP-seq
MIRT1231457	hsa-miR-466	CLIP-seq
MIRT1231458	hsa-miR-4672	CLIP-seq
MIRT2067944	hsa-miR-4678	CLIP-seq
MIRT1231459	hsa-miR-4694-3p	CLIP-seq
MIRT2067945	hsa-miR-4733-5p	CLIP-seq
MIRT1231465	hsa-miR-4738-3p	CLIP-seq
MIRT2067946	hsa-miR-4742-3p	CLIP-seq
MIRT2067947	hsa-miR-4756-3p	CLIP-seq
MIRT2067948	hsa-miR-4758-5p	CLIP-seq
MIRT2067949	hsa-miR-4760-3p	CLIP-seq
MIRT2067950	hsa-miR-4765	CLIP-seq
MIRT1231466	hsa-miR-4766-5p	CLIP-seq
MIRT1231468	hsa-miR-4775	CLIP-seq
MIRT1231469	hsa-miR-4777-5p	CLIP-seq
MIRT2067951	hsa-miR-4778-5p	CLIP-seq
MIRT1231470	hsa-miR-4789-3p	CLIP-seq
MIRT1231472	hsa-miR-4803	CLIP-seq
MIRT2067952	hsa-miR-486-5p	CLIP-seq
MIRT2067953	hsa-miR-489	CLIP-seq
MIRT1231475	hsa-miR-491-3p	CLIP-seq
MIRT2067954	hsa-miR-502-5p	CLIP-seq
MIRT1231478	hsa-miR-508-5p	CLIP-seq
MIRT2067955	hsa-miR-513a-3p	CLIP-seq
MIRT2067956	hsa-miR-519a	CLIP-seq
MIRT2067957	hsa-miR-519b-3p	CLIP-seq
MIRT2067958	hsa-miR-519c-3p	CLIP-seq
MIRT2067959	hsa-miR-519d	CLIP-seq
MIRT1231489	hsa-miR-522	CLIP-seq
MIRT2067960	hsa-miR-539	CLIP-seq
MIRT1231492	hsa-miR-543	CLIP-seq
MIRT1231494	hsa-miR-548p	CLIP-seq
MIRT2067961	hsa-miR-548q	CLIP-seq
MIRT1231495	hsa-miR-548t	CLIP-seq
MIRT2067962	hsa-miR-579	CLIP-seq
MIRT2067963	hsa-miR-580	CLIP-seq
MIRT1231498	hsa-miR-586	CLIP-seq
MIRT2067964	hsa-miR-587	CLIP-seq
MIRT1231499	hsa-miR-590-3p	CLIP-seq
MIRT2067965	hsa-miR-600	CLIP-seq
MIRT2067966	hsa-miR-607	CLIP-seq
MIRT1231502	hsa-miR-630	CLIP-seq
MIRT1231503	hsa-miR-634	CLIP-seq
MIRT1231506	hsa-miR-664	CLIP-seq
MIRT2067967	hsa-miR-873	CLIP-seq
MIRT1231507	hsa-miR-875-3p	CLIP-seq
MIRT2067968	hsa-miR-93	CLIP-seq
MIRT1231375	hsa-miR-105	CLIP-seq
MIRT2295353	hsa-miR-124	CLIP-seq
MIRT1231379	hsa-miR-1271	CLIP-seq
MIRT1231380	hsa-miR-1298	CLIP-seq
MIRT1231382	hsa-miR-132	CLIP-seq
MIRT2295354	hsa-miR-148a	CLIP-seq
MIRT2295355	hsa-miR-148b	CLIP-seq
MIRT2295356	hsa-miR-152	CLIP-seq
MIRT1231388	hsa-miR-181a	CLIP-seq
MIRT1231389	hsa-miR-181b	CLIP-seq
MIRT1231390	hsa-miR-181c	CLIP-seq
MIRT1231391	hsa-miR-181d	CLIP-seq
MIRT1231392	hsa-miR-182	CLIP-seq
MIRT2295357	hsa-miR-1825	CLIP-seq
MIRT1231393	hsa-miR-186	CLIP-seq
MIRT2067910	hsa-miR-190	CLIP-seq
MIRT2295358	hsa-miR-1909	CLIP-seq
MIRT2067911	hsa-miR-190b	CLIP-seq
MIRT1231394	hsa-miR-192	CLIP-seq
MIRT1231395	hsa-miR-194	CLIP-seq
MIRT1231398	hsa-miR-212	CLIP-seq
MIRT1231399	hsa-miR-215	CLIP-seq
MIRT2295359	hsa-miR-223	CLIP-seq
MIRT2295360	hsa-miR-224	CLIP-seq
MIRT2295361	hsa-miR-2277-3p	CLIP-seq
MIRT2067916	hsa-miR-2909	CLIP-seq
MIRT1231406	hsa-miR-299-5p	CLIP-seq
MIRT2295362	hsa-miR-300	CLIP-seq
MIRT2295363	hsa-miR-302a	CLIP-seq
MIRT2295364	hsa-miR-302b	CLIP-seq
MIRT2295365	hsa-miR-302c	CLIP-seq
MIRT2295366	hsa-miR-302d	CLIP-seq
MIRT2295367	hsa-miR-302e	CLIP-seq
MIRT1231407	hsa-miR-30a	CLIP-seq
MIRT1231408	hsa-miR-30b	CLIP-seq
MIRT1231409	hsa-miR-30c	CLIP-seq
MIRT1231410	hsa-miR-30d	CLIP-seq
MIRT1231411	hsa-miR-30e	CLIP-seq
MIRT1231418	hsa-miR-3149	CLIP-seq
MIRT2295368	hsa-miR-3166	CLIP-seq
MIRT2295369	hsa-miR-3201	CLIP-seq
MIRT1231425	hsa-miR-338-3p	CLIP-seq
MIRT2295370	hsa-miR-338-5p	CLIP-seq
MIRT1231429	hsa-miR-3646	CLIP-seq
MIRT1231430	hsa-miR-3647-3p	CLIP-seq
MIRT2295371	hsa-miR-3662	CLIP-seq
MIRT2295372	hsa-miR-3673	CLIP-seq
MIRT2067922	hsa-miR-3674	CLIP-seq
MIRT2295373	hsa-miR-3678-3p	CLIP-seq
MIRT2295374	hsa-miR-3691-5p	CLIP-seq
MIRT2067928	hsa-miR-369-3p	CLIP-seq
MIRT2295375	hsa-miR-372	CLIP-seq
MIRT2295376	hsa-miR-373	CLIP-seq
MIRT2067929	hsa-miR-374a	CLIP-seq
MIRT2067930	hsa-miR-374b	CLIP-seq
MIRT1231435	hsa-miR-376c	CLIP-seq
MIRT2295377	hsa-miR-380	CLIP-seq
MIRT2295378	hsa-miR-381	CLIP-seq
MIRT2067931	hsa-miR-3908	CLIP-seq
MIRT1231437	hsa-miR-3941	CLIP-seq
MIRT2295379	hsa-miR-3942-5p	CLIP-seq
MIRT2295380	hsa-miR-3977	CLIP-seq
MIRT1231438	hsa-miR-412	CLIP-seq
MIRT2295381	hsa-miR-4252	CLIP-seq
MIRT1231442	hsa-miR-4262	CLIP-seq
MIRT1231443	hsa-miR-4264	CLIP-seq
MIRT2295382	hsa-miR-4278	CLIP-seq
MIRT2067935	hsa-miR-4328	CLIP-seq
MIRT2295383	hsa-miR-4491	CLIP-seq
MIRT2295384	hsa-miR-4501	CLIP-seq
MIRT1231453	hsa-miR-4643	CLIP-seq
MIRT2067942	hsa-miR-4653-3p	CLIP-seq
MIRT2295385	hsa-miR-4657	CLIP-seq
MIRT1231457	hsa-miR-466	CLIP-seq
MIRT1231458	hsa-miR-4672	CLIP-seq
MIRT2067944	hsa-miR-4678	CLIP-seq
MIRT2295386	hsa-miR-4690-5p	CLIP-seq
MIRT1231459	hsa-miR-4694-3p	CLIP-seq
MIRT2295387	hsa-miR-4697-3p	CLIP-seq
MIRT2295388	hsa-miR-4703-3p	CLIP-seq
MIRT2295389	hsa-miR-4703-5p	CLIP-seq
MIRT1231463	hsa-miR-4719	CLIP-seq
MIRT2067946	hsa-miR-4742-3p	CLIP-seq
MIRT2295390	hsa-miR-4752	CLIP-seq
MIRT2067947	hsa-miR-4756-3p	CLIP-seq
MIRT2295391	hsa-miR-4766-3p	CLIP-seq
MIRT2295392	hsa-miR-4771	CLIP-seq
MIRT2295393	hsa-miR-4773	CLIP-seq
MIRT1231468	hsa-miR-4775	CLIP-seq
MIRT1231470	hsa-miR-4789-3p	CLIP-seq
MIRT2295394	hsa-miR-4791	CLIP-seq
MIRT1231471	hsa-miR-4797-3p	CLIP-seq
MIRT1231472	hsa-miR-4803	CLIP-seq
MIRT2295395	hsa-miR-499a-5p	CLIP-seq
MIRT2295396	hsa-miR-501-5p	CLIP-seq
MIRT2295397	hsa-miR-506	CLIP-seq
MIRT2067956	hsa-miR-519a	CLIP-seq
MIRT2067957	hsa-miR-519b-3p	CLIP-seq
MIRT2067958	hsa-miR-519c-3p	CLIP-seq
MIRT2295398	hsa-miR-520a-3p	CLIP-seq
MIRT2295399	hsa-miR-520b	CLIP-seq
MIRT2295400	hsa-miR-520c-3p	CLIP-seq
MIRT2295401	hsa-miR-520d-3p	CLIP-seq
MIRT2295402	hsa-miR-520e	CLIP-seq
MIRT2295403	hsa-miR-520f	CLIP-seq
MIRT1231489	hsa-miR-522	CLIP-seq
MIRT2295404	hsa-miR-548a-5p	CLIP-seq
MIRT2295405	hsa-miR-548ab	CLIP-seq
MIRT2295406	hsa-miR-548ak	CLIP-seq
MIRT2295407	hsa-miR-548b-5p	CLIP-seq
MIRT2295408	hsa-miR-548c-3p	CLIP-seq
MIRT2295409	hsa-miR-548c-5p	CLIP-seq
MIRT2295410	hsa-miR-548d-5p	CLIP-seq
MIRT2295411	hsa-miR-548h	CLIP-seq
MIRT2295412	hsa-miR-548i	CLIP-seq
MIRT2295413	hsa-miR-548j	CLIP-seq
MIRT2295414	hsa-miR-548k	CLIP-seq
MIRT2295415	hsa-miR-548l	CLIP-seq
MIRT1231495	hsa-miR-548t	CLIP-seq
MIRT2295416	hsa-miR-548w	CLIP-seq
MIRT2295417	hsa-miR-548y	CLIP-seq
MIRT2295418	hsa-miR-559	CLIP-seq
MIRT1231496	hsa-miR-568	CLIP-seq
MIRT2067962	hsa-miR-579	CLIP-seq
MIRT2295419	hsa-miR-582-5p	CLIP-seq
MIRT1231499	hsa-miR-590-3p	CLIP-seq
MIRT2295420	hsa-miR-592	CLIP-seq
MIRT2295421	hsa-miR-597	CLIP-seq
MIRT2067965	hsa-miR-600	CLIP-seq
MIRT1231501	hsa-miR-622	CLIP-seq
MIRT1231502	hsa-miR-630	CLIP-seq
MIRT1231503	hsa-miR-634	CLIP-seq
MIRT2295422	hsa-miR-711	CLIP-seq
MIRT1231507	hsa-miR-875-3p	CLIP-seq
MIRT2295423	hsa-miR-892a	CLIP-seq
MIRT1231508	hsa-miR-9	CLIP-seq
MIRT1231511	hsa-miR-96	CLIP-seq
MIRT1231377	hsa-miR-1245b-3p	CLIP-seq
MIRT2295370	hsa-miR-338-5p	CLIP-seq
MIRT2067931	hsa-miR-3908	CLIP-seq
MIRT2295379	hsa-miR-3942-5p	CLIP-seq
MIRT2392487	hsa-miR-4666-3p	CLIP-seq
MIRT2295389	hsa-miR-4703-5p	CLIP-seq
MIRT2295391	hsa-miR-4766-3p	CLIP-seq
MIRT1231472	hsa-miR-4803	CLIP-seq
MIRT1231508	hsa-miR-9	CLIP-seq
MIRT1231376	hsa-miR-1225-5p	CLIP-seq
MIRT1231378	hsa-miR-1252	CLIP-seq
MIRT2067907	hsa-miR-1284	CLIP-seq
MIRT1231382	hsa-miR-132	CLIP-seq
MIRT1231383	hsa-miR-1323	CLIP-seq
MIRT1231388	hsa-miR-181a	CLIP-seq
MIRT1231389	hsa-miR-181b	CLIP-seq
MIRT1231390	hsa-miR-181c	CLIP-seq
MIRT1231391	hsa-miR-181d	CLIP-seq
MIRT1231393	hsa-miR-186	CLIP-seq
MIRT1231394	hsa-miR-192	CLIP-seq
MIRT1231395	hsa-miR-194	CLIP-seq
MIRT1231398	hsa-miR-212	CLIP-seq
MIRT1231399	hsa-miR-215	CLIP-seq
MIRT1231416	hsa-miR-3145-5p	CLIP-seq
MIRT1231417	hsa-miR-3148	CLIP-seq
MIRT1231418	hsa-miR-3149	CLIP-seq
MIRT2592973	hsa-miR-3152-3p	CLIP-seq
MIRT2592974	hsa-miR-320a	CLIP-seq
MIRT2592975	hsa-miR-320b	CLIP-seq
MIRT2592976	hsa-miR-320c	CLIP-seq
MIRT2592977	hsa-miR-320d	CLIP-seq
MIRT2592978	hsa-miR-3609	CLIP-seq
MIRT2592979	hsa-miR-3664-5p	CLIP-seq
MIRT1231435	hsa-miR-376c	CLIP-seq
MIRT1231437	hsa-miR-3941	CLIP-seq
MIRT1231442	hsa-miR-4262	CLIP-seq
MIRT2592980	hsa-miR-4429	CLIP-seq
MIRT1231452	hsa-miR-4533	CLIP-seq
MIRT1231453	hsa-miR-4643	CLIP-seq
MIRT1231457	hsa-miR-466	CLIP-seq
MIRT1231458	hsa-miR-4672	CLIP-seq
MIRT1231461	hsa-miR-4711-5p	CLIP-seq
MIRT1231468	hsa-miR-4775	CLIP-seq
MIRT1231470	hsa-miR-4789-3p	CLIP-seq
MIRT1231472	hsa-miR-4803	CLIP-seq
MIRT1231475	hsa-miR-491-3p	CLIP-seq
MIRT1231476	hsa-miR-495	CLIP-seq
MIRT1231478	hsa-miR-508-5p	CLIP-seq
MIRT2592981	hsa-miR-548a-3p	CLIP-seq
MIRT2592982	hsa-miR-548ah	CLIP-seq
MIRT2592983	hsa-miR-548e	CLIP-seq
MIRT2592984	hsa-miR-548f	CLIP-seq
MIRT1231493	hsa-miR-548o	CLIP-seq
MIRT1231495	hsa-miR-548t	CLIP-seq
MIRT2592985	hsa-miR-556-3p	CLIP-seq
MIRT1231496	hsa-miR-568	CLIP-seq
MIRT1231497	hsa-miR-578	CLIP-seq
MIRT1231498	hsa-miR-586	CLIP-seq
MIRT1231504	hsa-miR-635	CLIP-seq
MIRT2687846	hsa-miR-4528	CLIP-seq
MIRT2067949	hsa-miR-4760-3p	CLIP-seq
MIRT1231506	hsa-miR-664	CLIP-seq
MIRT2067967	hsa-miR-873	CLIP-seq

Show/Hide all (26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001932	Process	Regulation of protein phosphorylation	ISS
GO:0005158	Function	Insulin receptor binding	NAS	11018022
GO:0005515	Function	Protein binding	IPI	11018022, 32814053
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	25593309
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0006325	Process	Chromatin organization	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007010	Process	Cytoskeleton organization	IBA
GO:0007010	Process	Cytoskeleton organization	IMP	21834987
GO:0008284	Process	Positive regulation of cell population proliferation	ISS
GO:0008286	Process	Insulin receptor signaling pathway	NAS	11018022
GO:0008360	Process	Regulation of cell shape	IBA
GO:0009966	Process	Regulation of signal transduction	IEA
GO:0022604	Process	Regulation of cell morphogenesis	IEA
GO:0022604	Process	Regulation of cell morphogenesis	IMP	21834987
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS
GO:0043568	Process	Positive regulation of insulin-like growth factor receptor signaling pathway	ISS
GO:0045840	Process	Positive regulation of mitotic nuclear division	ISS
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045893	Process	Positive regulation of DNA-templated transcription	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17636024
GO:0140566	Function	Histone reader activity	IDA	22464331
GO:2001237	Process	Negative regulation of extrinsic apoptotic signaling pathway	IDA	17636024

MIM	HGNC	e!Ensembl
612870	15673	ENSG00000146247

Q8WWQ0

Protein name

PH-interacting protein (PHIP) (DDB1- and CUL4-associated factor 14) (IRS-1 PH domain-binding protein) (WD repeat-containing protein 11)

Protein function

Probable regulator of the insulin and insulin-like growth factor signaling pathways. Stimulates cell proliferation through regulation of cyclin transcription and has an anti-apoptotic activity through AKT1 phosphorylation and activation. Plays a

PDB

3MB3 , 5ENB , 5ENC , 5ENE , 5ENF , 5ENH , 5ENI , 5ENJ , 5RJI , 5RJJ , 5RJK , 5RJL , 5RJM , 5RJN , 5RJO , 5RJP , 5RJQ , 5RJR , 5RJS , 5RJT , 5RJU , 5RJV , 5RJW , 5RJX , 5RJY , 5RJZ , 5RK0 , 5RK1 , 5RK2 , 5RK3 , 5RK4 , 5RK5 , 5RK6 , 5RK7 , 5RK8 , 5RK9 , 5RKA , 5RKB , 5RKC , 5RKD , 5RKE , 5RKF , 5RKG , 5RKH , 5RKI , 5RKJ , 5RKK , 5RKL , 5RKM , 5RKN , 5RKO

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00400	WD40	173 → 210	WD domain, G-beta repeat	Repeat
PF00400	WD40	215 → 253	WD domain, G-beta repeat	Repeat
PF00400	WD40	257 → 298	WD domain, G-beta repeat	Repeat
PF00400	WD40	355 → 393	WD domain, G-beta repeat	Repeat
PF00400	WD40	456 → 495	WD domain, G-beta repeat	Repeat
PF00439	Bromodomain	1165 → 1251	Bromodomain	Domain
PF00439	Bromodomain	1325 → 1409	Bromodomain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in myeloma and epidermoid carcinoma cell lines. {ECO:0000269|PubMed:11018022}.

Sequence

MSCERKGLSELRSELYFLIARFLEDGPCQQAAQVLIREVAEKELLPRRTDWTGKEHPRTY
QNLVKYYRHLAPDHLLQICHRLGPLLEQEIPQSVPGVQTLLGAGRQSLLRTNKSCKHVVW
KGSALAALHCGRPPESPVNYGSPPSIADTLFSRKLNGKYRLERLVPTAVYQHMKMHKRIL
GHLSSVYCVTFDRTGRRIFTGSDDCLVKIWATDDGRLLATLRGHAAEISDMAVNYENTMI
AAGSCDKMIRVWCLRTCAPLAVLQGHSASITSLQFSPLCSGSKRYLSSTGADGTICFWLW
DAGTLKINPRPAKFTERPRPGVQMICSSFSAGGMFLATGSTDHIIRVYFFGSGQPEKISE
LEFHTDKVDSIQFSNTSNRFVSGSRDGTARIWQFKRREWKSILLDMATRPAGQNLQGIED
KITKMKVTMVAWDRHDNTVITAVNNMTLKVWNSYTGQLIHVLMGHEDEVFVLEPHPFDPR
VLFSAGHDGNVIVWDLARGVKIRSYFNMIEGQGHGAVFDCKCSPDGQHFACTDSHGHLLI
FGFGSSSKYDKIADQMFFHSDYRPLIRDANNFVLDEQTQQAPHLMPPPFLVDVDGNPHPS
RYQRLVPGRENCREEQLIPQMGVTSSGLNQVLSQQANQEISPLDSMIQRLQQEQDLRRSG
EAVISNTSRLSRGSISSTSEVHSPPNVGLRRSGQIEGVRQMHSNAPRSEIATERDLVAWS
RRVVVPELSAGVASRQEEWRTAKGEEEIKTYRSEEKRKHLTVPKENKIPTVSKNHAHEHF
LDLGESKKQQTNQHNYRTRSALEETPRPSEEIENGSSSSDEGEVVAVSGGTSEEEERAWH
SDGSSSDYSSDYSDWTADAGINLQPPKKVPKNKTKKAESSSDEEEESEKQKQKQIKKEKK
KVNEEKDGPISPKKKKPKERKQKRLAVGELTENGLTLEEWLPSTWITDTIPRRCPFVPQM
GDEVYYFRQGHEAYVEMARKNKIYSINPKKQPWHKMELREQELMKIVGIKYEVGLPTLCC
LKLAFLDPDTGKLTGGSFTMKYHDMPDVIDFLVLRQQFDDAKYRRWNIGDRFRSVIDDAW
WFGTIESQEPLQLEYPDSLFQCYNVCWDNGDTEKMSPWDMELIPNNAVFPEELGTSVPLT
DGECRSLIYKPLDGEWGTNPRDEECERIVAGINQLMTLDIASAFVAPVDLQAYPMYCTVV
AYPTDLSTIKQRLENRFYRRVSSLMWEVRYIEHNTRTFNEPGSPIVKSAKFVTDLLLHFI
KDQTCYNIIPLYNSMKKKVLSDSEDEEKDADVPGTSTRKRKDHQPRRRLRNRAQSYDIQA
WKKQCEELLNLIFQCEDSEPFRQPVDLLEYPDYRDIIDTPMDFATVRETLEAGNYESPME
LCKDVRLIFSNSKAYTPSKRSRIYSMSLRLSAFFEEHISSVLSDYKSALRFHKRNTITKR
RKKRNRSSSVSSSAASSPERKKRILKPQLKSESSTSAFSTPTRSIPPRHNAAQINGKTES
SSVVRTRSNRVVVDPVVTEQPSTSSAAKTFITKANASAIPGKTILENSVKHSKALNTLSS
PGQSSFSHGTRNNSAKENMEKEKPVKRKMKSSVLPKASTLSKSSAVIEQGDCKNNALVPG
TIQVNGHGGQPSKLVKRGPGRKPKVEVNTNSGEIIHKKRGRKPKKLQYAKPEDLEQNNVH
PIRDEVLPSSTCNFLSETNNVKEDLLQKKNRGGRKPKRKMKTQKLDADLLVPASVKVLRR
SNRKKIDDPIDEEEEFEELKGSEPHMRTRNQGRRTAFYNEDDSEEEQRQLLFEDTSLTFG
TSSRGRVRKLTEKAKANLIGW

Sequence length

1821

Interactions

View interactions

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)

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colorectal cancer	Likely pathogenic; Pathogenic	rs200788163	RCV005900103	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Early onset severe obesity	Likely pathogenic; Pathogenic	rs771126523	RCV006443709	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic; Pathogenic	rs768324201	RCV001526636	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic	rs2127740492	RCV002274363	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	Likely pathogenic; Pathogenic	rs1773759539, rs2127690980, rs2127718655, rs2127682146, rs1270288366, rs1304822359, rs2127701393, rs1767406859, rs2127785060, rs2127760440, rs2127705231, rs878854420, rs2127718540, rs2127741566, rs2127714980 View all (67 more)	RCV001332212 RCV001526565 RCV001782612 RCV001800262 RCV004728824 View all (80 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PHIP-related disorder	Likely pathogenic; Pathogenic	rs2127741566, rs2482428927, rs2481963256, rs2481962808, rs200515013, rs1554210066, rs200788163, rs1582180665, rs771126523, rs768324201	RCV004529110 RCV004536541 RCV004527924 RCV004529827 RCV004536681 View all (5 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Schizophrenia	Pathogenic	rs2127683593	RCV001824099	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Syndromic intellectual disability	Likely pathogenic; Pathogenic	rs759380520	RCV000496130	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (23)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autism spectrum disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHUNG-JANSEN SYNDROME	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability, X-linked 102	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL RETARDATION	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental disorder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rare genetic intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SICCA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGREN'S SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SJOGRENS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (76)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abnormal fear/anxiety-related behavior	Behavioral abnormality	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	27900362	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arachnoid Cysts	Arachnoid cyst	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	27824329, 29209020, 29904178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	29866840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Conductive hearing loss	Hearing Loss	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	27900362, 31167805	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	30568311		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital torticollis	Congenital Torticollis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Convergence Insufficiency	Convergence Insufficiency	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cornelia De Lange Syndrome	Cornelia De Lange Syndrome	BEFREE	31337854		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
De Lange Syndrome	De lange syndrome	Pubtator	36843271	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Delayed menarche	Delayed menarche	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES	Developmental Delay, Intellectual Disability, Obesity, And Dysmorphic Features	UNIPROT_DG	23033978, 27900362, 29209020		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES	Developmental Delay, Intellectual Disability, Obesity, And Dysmorphic Features	GENOMICS_ENGLAND_DG	27900362		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES	Developmental Delay, Intellectual Disability, Obesity, And Dysmorphic Features	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental Disabilities	Developmental disability	Pubtator	27900362, 29904178, 31167805, 34819353	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Febrile Convulsions	Febrile seizures	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemangioma	Hemangioma	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperkinesis	Hyperkinesia	Pubtator	29209020	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	27900362		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	27900362, 31167805, 33743206	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	CTD_human_DG	28191889		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	29209020		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	29866840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	29776954		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22511720, 24005052, 29776954, 29866840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	29776954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	29776954	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Mental deficiency	Mental retardation	CTD_human_DG	28191889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	29776954		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	29209020	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	24005052, 29776954, 29866840		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	27900362, 29209020, 31167805, 33743206	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Obsessive compulsive behavior	Obsessive-Compulsive Disorder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Profound Mental Retardation	Mental retardation	CTD_human_DG	28191889		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sicca Syndrome	Sjogren`s Syndrome	CTD_human_DG	24097067		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sjogren`s Syndrome	Sjogren`s Syndrome	CTD_human_DG	24097067		★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichotillomania	Trichotillomania	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ureterocele	Ureterocele	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

PHIP (PHIP subunit of CUL4-Ring ligase complex)