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

363

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Colorectal cancer	Likely pathogenic; Pathogenic	rs200788163	RCV005900103
Early onset severe obesity	Likely pathogenic; Pathogenic	rs771126523	RCV006443709
Intellectual disability	Likely pathogenic; Pathogenic	rs768324201	RCV001526636
Neurodevelopmental delay	Likely pathogenic	rs2127740492	RCV002274363
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 RCV001813906 RCV001843813 RCV002052083 RCV002052190 RCV002225173 RCV002249125 RCV002249126 RCV002250223 RCV002250224 RCV002264874 RCV002264875 RCV002272810 RCV004785558 RCV002287631 RCV002288264 RCV002288353 RCV002290158 RCV002472303 RCV002795911 RCV003135660 RCV000656344 RCV000656343 RCV003445374 RCV003445375 RCV003445376 RCV003445377 RCV003445378 RCV003445379 RCV003445380 RCV003445381 RCV003445382 RCV003445383 RCV003445384 RCV003445385 RCV003445386 RCV003445387 RCV003445388 RCV003445389 RCV003445390 RCV003445391 RCV003445392 RCV003445393 RCV003445394 RCV003883315 RCV004556015 RCV004585188 RCV004594777 RCV002298617 RCV000770903 RCV000770905 RCV002464241 RCV005223007 RCV000033113 RCV000656346 RCV000770904 RCV000656345 RCV000656347 RCV000656348 RCV000770908 RCV000770906 RCV000770911 RCV000770909 RCV000770910 RCV000770912 RCV000770907 RCV000785144 RCV000791273 RCV001253146 RCV001027664 RCV001027868 RCV001784644 RCV004017806 RCV001252344 RCV001253094 RCV001253754 RCV001260188 RCV001262600 RCV001265644 RCV001331007 RCV001293633
PHIP-related disorder	Likely pathogenic; Pathogenic	rs2127741566, rs2482428927, rs2481963256, rs2481962808, rs200515013, rs1554210066, rs200788163, rs1582180665, rs771126523, rs768324201	RCV004529110 RCV004536541 RCV004527924 RCV004529827 RCV004536681 RCV004545792 RCV004735685 RCV000845087 RCV004734009 RCV004538536
Schizophrenia	Pathogenic	rs2127683593	RCV001824099
See cases	Likely pathogenic; Pathogenic	rs2127741611, rs2127691868, rs2482349159, rs771126523	RCV001420317 RCV004797989 RCV003156190 RCV003156138
Syndromic intellectual disability	Likely pathogenic; Pathogenic	rs759380520	RCV000496130

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs77835263	RCV005928419
Autism spectrum disorder	Likely benign	rs753204166	RCV003127411
Developmental disorder	Likely benign	rs2127742331	RCV001843759
Familial cancer of breast	Likely benign	rs369962833	RCV005922666
Intellectual disability, X-linked 102	Conflicting classifications of pathogenicity	rs748247534	RCV002285032
Lung cancer	Benign	rs77835263	RCV005928422
Neurodevelopmental disorder	Uncertain significance	rs2127677696	RCV002277639
Ovarian cancer	Benign	rs77835263	RCV005928420
Ovarian serous cystadenocarcinoma	Benign	rs77835263	RCV005928421
Rare genetic intellectual disability	Conflicting classifications of pathogenicity	rs754764007	RCV001257009
Uterine carcinosarcoma	Benign	rs9343859	RCV005918713
Uterine corpus endometrial carcinoma	Benign	rs77835263	RCV005928423

Show/Hide Text Mining Associations (20)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anxiety	Associate	27900362
Autistic Disorder	Associate	27824329, 29209020, 29904178
Congenital Abnormalities	Associate	27900362, 31167805
De Lange Syndrome	Associate	36843271
Developmental Disabilities	Associate	27900362, 29904178, 31167805, 34819353
Hyperkinesis	Associate	29209020
Intellectual Disability	Associate	27900362, 31167805, 33743206
Melanoma	Associate	29776954
Melanoma Cutaneous Malignant	Associate	29776954
Mental Disorders	Associate	31167805
Mood Disorders	Associate	29209020
Muscle Hypotonia	Associate	27900362
Neoplasm Metastasis	Associate	29776954
Neoplasms	Associate	34819353
Neurologic Manifestations	Associate	31167805
Obesity	Associate	27900362, 29209020, 31167805, 33743206
Overweight	Associate	29209020, 31167805
Papillary Thyroid Microcarcinoma	Associate	34731936
Signs and Symptoms Digestive	Associate	31167805
Syndrome	Associate	31167805

PHIP (PHIP subunit of CUL4-Ring ligase complex)