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	64207
Gene name	Interferon regulatory factor 2 binding protein like
Gene symbol	IRF2BPL
Synonyms (NCBI Gene)	C14orf4EAP1NEDAMSS
Chromosome	14
Chromosome location	14q24.3
Summary	This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]

Show/Hide all (2)

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555377234	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1566785444	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant

507

Show/Hide all (507)

miRTarBase ID	miRNA	Experiments	Reference
MIRT005439	hsa-miR-1-3p	pSILAC	18668040
MIRT005439	hsa-miR-1-3p	Proteomics	18668040
MIRT049752	hsa-miR-92a-3p	CLASH	23622248
MIRT040275	hsa-miR-615-3p	CLASH	23622248
MIRT614604	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT614603	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT614602	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT614601	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT614600	hsa-miR-940	HITS-CLIP	23824327
MIRT614599	hsa-miR-2682-5p	HITS-CLIP	23824327
MIRT614598	hsa-miR-34b-5p	HITS-CLIP	23824327
MIRT614597	hsa-miR-449c-5p	HITS-CLIP	23824327
MIRT614596	hsa-miR-4423-3p	HITS-CLIP	23824327
MIRT614604	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT614603	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT614602	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT614601	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT614600	hsa-miR-940	HITS-CLIP	23824327
MIRT614599	hsa-miR-2682-5p	HITS-CLIP	23824327
MIRT614598	hsa-miR-34b-5p	HITS-CLIP	23824327
MIRT614597	hsa-miR-449c-5p	HITS-CLIP	23824327
MIRT614596	hsa-miR-4423-3p	HITS-CLIP	23824327
MIRT536594	hsa-miR-1272	PAR-CLIP	22012620
MIRT536593	hsa-miR-1322	PAR-CLIP	22012620
MIRT536592	hsa-miR-4715-3p	PAR-CLIP	22012620
MIRT614604	hsa-miR-1910-3p	PAR-CLIP	26701625
MIRT614599	hsa-miR-2682-5p	PAR-CLIP	26701625
MIRT614598	hsa-miR-34b-5p	PAR-CLIP	26701625
MIRT614596	hsa-miR-4423-3p	PAR-CLIP	26701625
MIRT614597	hsa-miR-449c-5p	PAR-CLIP	26701625
MIRT614603	hsa-miR-6511a-5p	PAR-CLIP	26701625
MIRT614602	hsa-miR-6808-5p	PAR-CLIP	26701625
MIRT614601	hsa-miR-6893-5p	PAR-CLIP	26701625
MIRT614600	hsa-miR-940	PAR-CLIP	26701625
MIRT614604	hsa-miR-1910-3p	HITS-CLIP	27418678
MIRT614604	hsa-miR-1910-3p	HITS-CLIP	27418678
MIRT614604	hsa-miR-1910-3p	HITS-CLIP	27418678
MIRT614599	hsa-miR-2682-5p	HITS-CLIP	27418678
MIRT614599	hsa-miR-2682-5p	HITS-CLIP	27418678
MIRT614599	hsa-miR-2682-5p	HITS-CLIP	27418678
MIRT614598	hsa-miR-34b-5p	HITS-CLIP	27418678
MIRT614598	hsa-miR-34b-5p	HITS-CLIP	27418678
MIRT614598	hsa-miR-34b-5p	HITS-CLIP	27418678
MIRT614596	hsa-miR-4423-3p	HITS-CLIP	27418678
MIRT614596	hsa-miR-4423-3p	HITS-CLIP	27418678
MIRT614596	hsa-miR-4423-3p	HITS-CLIP	27418678
MIRT614597	hsa-miR-449c-5p	HITS-CLIP	27418678
MIRT614597	hsa-miR-449c-5p	HITS-CLIP	27418678
MIRT614597	hsa-miR-449c-5p	HITS-CLIP	27418678
MIRT614603	hsa-miR-6511a-5p	HITS-CLIP	27418678
MIRT614603	hsa-miR-6511a-5p	HITS-CLIP	27418678
MIRT614603	hsa-miR-6511a-5p	HITS-CLIP	27418678
MIRT614602	hsa-miR-6808-5p	HITS-CLIP	27418678
MIRT614602	hsa-miR-6808-5p	HITS-CLIP	27418678
MIRT614602	hsa-miR-6808-5p	HITS-CLIP	27418678
MIRT614601	hsa-miR-6893-5p	HITS-CLIP	27418678
MIRT614601	hsa-miR-6893-5p	HITS-CLIP	27418678
MIRT614601	hsa-miR-6893-5p	HITS-CLIP	27418678
MIRT614600	hsa-miR-940	HITS-CLIP	27418678
MIRT614600	hsa-miR-940	HITS-CLIP	27418678
MIRT614600	hsa-miR-940	HITS-CLIP	27418678
MIRT614604	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT614603	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT614602	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT614601	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT614600	hsa-miR-940	HITS-CLIP	23824327
MIRT614599	hsa-miR-2682-5p	HITS-CLIP	23824327
MIRT614598	hsa-miR-34b-5p	HITS-CLIP	23824327
MIRT614597	hsa-miR-449c-5p	HITS-CLIP	23824327
MIRT614596	hsa-miR-4423-3p	HITS-CLIP	23824327
MIRT614604	hsa-miR-1910-3p	HITS-CLIP	23824327
MIRT614603	hsa-miR-6511a-5p	HITS-CLIP	23824327
MIRT614602	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT614601	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT614600	hsa-miR-940	HITS-CLIP	23824327
MIRT614599	hsa-miR-2682-5p	HITS-CLIP	23824327
MIRT614598	hsa-miR-34b-5p	HITS-CLIP	23824327
MIRT614597	hsa-miR-449c-5p	HITS-CLIP	23824327
MIRT614596	hsa-miR-4423-3p	HITS-CLIP	23824327
MIRT536594	hsa-miR-1272	PAR-CLIP	22012620
MIRT536593	hsa-miR-1322	PAR-CLIP	22012620
MIRT536592	hsa-miR-4715-3p	PAR-CLIP	22012620
MIRT1071083	hsa-miR-105	CLIP-seq
MIRT1071084	hsa-miR-106a	CLIP-seq
MIRT1071085	hsa-miR-106b	CLIP-seq
MIRT1071086	hsa-miR-1179	CLIP-seq
MIRT1071087	hsa-miR-1226	CLIP-seq
MIRT1071088	hsa-miR-124	CLIP-seq
MIRT1071089	hsa-miR-1275	CLIP-seq
MIRT1071090	hsa-miR-1321	CLIP-seq
MIRT1071091	hsa-miR-136	CLIP-seq
MIRT1071092	hsa-miR-142-5p	CLIP-seq
MIRT1071093	hsa-miR-147	CLIP-seq
MIRT1071094	hsa-miR-15a	CLIP-seq
MIRT1071095	hsa-miR-15b	CLIP-seq
MIRT1071096	hsa-miR-16	CLIP-seq
MIRT1071097	hsa-miR-17	CLIP-seq
MIRT1071098	hsa-miR-181a	CLIP-seq
MIRT1071099	hsa-miR-181b	CLIP-seq
MIRT1071100	hsa-miR-181c	CLIP-seq
MIRT1071101	hsa-miR-181d	CLIP-seq
MIRT1071102	hsa-miR-195	CLIP-seq
MIRT1071103	hsa-miR-1973	CLIP-seq
MIRT1071104	hsa-miR-199a-3p	CLIP-seq
MIRT1071105	hsa-miR-199b-3p	CLIP-seq
MIRT1071106	hsa-miR-205	CLIP-seq
MIRT1071107	hsa-miR-20a	CLIP-seq
MIRT1071108	hsa-miR-20b	CLIP-seq
MIRT1071109	hsa-miR-21	CLIP-seq
MIRT1071110	hsa-miR-2113	CLIP-seq
MIRT1071111	hsa-miR-2278	CLIP-seq
MIRT1071112	hsa-miR-2682	CLIP-seq
MIRT1071113	hsa-miR-3065-5p	CLIP-seq
MIRT1071114	hsa-miR-3129-5p	CLIP-seq
MIRT1071115	hsa-miR-3143	CLIP-seq
MIRT1071116	hsa-miR-3154	CLIP-seq
MIRT1071117	hsa-miR-3173-3p	CLIP-seq
MIRT1071118	hsa-miR-3184	CLIP-seq
MIRT1071119	hsa-miR-3189-3p	CLIP-seq
MIRT1071120	hsa-miR-323-3p	CLIP-seq
MIRT1071121	hsa-miR-323b-3p	CLIP-seq
MIRT1071122	hsa-miR-329	CLIP-seq
MIRT1071123	hsa-miR-340	CLIP-seq
MIRT1071124	hsa-miR-3609	CLIP-seq
MIRT1071125	hsa-miR-3614-5p	CLIP-seq
MIRT1071126	hsa-miR-362-3p	CLIP-seq
MIRT1071127	hsa-miR-362-5p	CLIP-seq
MIRT1071128	hsa-miR-3663-5p	CLIP-seq
MIRT1071129	hsa-miR-3671	CLIP-seq
MIRT1071130	hsa-miR-3686	CLIP-seq
MIRT1071131	hsa-miR-3689d	CLIP-seq
MIRT1071132	hsa-miR-3919	CLIP-seq
MIRT1071133	hsa-miR-3935	CLIP-seq
MIRT1071134	hsa-miR-3940-5p	CLIP-seq
MIRT1071135	hsa-miR-3941	CLIP-seq
MIRT1071136	hsa-miR-3942-3p	CLIP-seq
MIRT1071137	hsa-miR-421	CLIP-seq
MIRT1071138	hsa-miR-423-5p	CLIP-seq
MIRT1071139	hsa-miR-424	CLIP-seq
MIRT1071140	hsa-miR-4255	CLIP-seq
MIRT1071141	hsa-miR-4259	CLIP-seq
MIRT1071142	hsa-miR-4260	CLIP-seq
MIRT1071143	hsa-miR-4262	CLIP-seq
MIRT1071144	hsa-miR-4274	CLIP-seq
MIRT1071145	hsa-miR-4419a	CLIP-seq
MIRT1071146	hsa-miR-4422	CLIP-seq
MIRT1071147	hsa-miR-4436b-3p	CLIP-seq
MIRT1071148	hsa-miR-4444	CLIP-seq
MIRT1071149	hsa-miR-4452	CLIP-seq
MIRT1071150	hsa-miR-4468	CLIP-seq
MIRT1071151	hsa-miR-449c	CLIP-seq
MIRT1071152	hsa-miR-4507	CLIP-seq
MIRT1071153	hsa-miR-4510	CLIP-seq
MIRT1071154	hsa-miR-452	CLIP-seq
MIRT1071155	hsa-miR-4525	CLIP-seq
MIRT1071156	hsa-miR-4530	CLIP-seq
MIRT1071157	hsa-miR-4639-5p	CLIP-seq
MIRT1071158	hsa-miR-4652-3p	CLIP-seq
MIRT1071159	hsa-miR-4665-5p	CLIP-seq
MIRT1071160	hsa-miR-4676-3p	CLIP-seq
MIRT1071161	hsa-miR-4693-3p	CLIP-seq
MIRT1071162	hsa-miR-4710	CLIP-seq
MIRT1071163	hsa-miR-4711-5p	CLIP-seq
MIRT1071164	hsa-miR-4716-5p	CLIP-seq
MIRT1071165	hsa-miR-4720-3p	CLIP-seq
MIRT1071166	hsa-miR-4723-5p	CLIP-seq
MIRT1071167	hsa-miR-4728-5p	CLIP-seq
MIRT1071168	hsa-miR-4739	CLIP-seq
MIRT1071169	hsa-miR-4756-3p	CLIP-seq
MIRT1071170	hsa-miR-4756-5p	CLIP-seq
MIRT1071171	hsa-miR-4761-3p	CLIP-seq
MIRT1071172	hsa-miR-4778-5p	CLIP-seq
MIRT1071173	hsa-miR-4796-3p	CLIP-seq
MIRT1071174	hsa-miR-4804-3p	CLIP-seq
MIRT1071175	hsa-miR-486-3p	CLIP-seq
MIRT1071176	hsa-miR-495	CLIP-seq
MIRT1071177	hsa-miR-497	CLIP-seq
MIRT1071178	hsa-miR-500b	CLIP-seq
MIRT1071179	hsa-miR-501-5p	CLIP-seq
MIRT1071180	hsa-miR-506	CLIP-seq
MIRT1071181	hsa-miR-513b	CLIP-seq
MIRT1071182	hsa-miR-515-5p	CLIP-seq
MIRT1071183	hsa-miR-517b	CLIP-seq
MIRT1071184	hsa-miR-519d	CLIP-seq
MIRT1071185	hsa-miR-520d-5p	CLIP-seq
MIRT1071186	hsa-miR-524-5p	CLIP-seq
MIRT1071187	hsa-miR-543	CLIP-seq
MIRT1071188	hsa-miR-548ah	CLIP-seq
MIRT1071189	hsa-miR-548p	CLIP-seq
MIRT1071190	hsa-miR-556-3p	CLIP-seq
MIRT1071191	hsa-miR-568	CLIP-seq
MIRT1071192	hsa-miR-571	CLIP-seq
MIRT1071193	hsa-miR-582-5p	CLIP-seq
MIRT1071194	hsa-miR-590-5p	CLIP-seq
MIRT1071195	hsa-miR-599	CLIP-seq
MIRT1071196	hsa-miR-601	CLIP-seq
MIRT1071197	hsa-miR-603	CLIP-seq
MIRT1071198	hsa-miR-604	CLIP-seq
MIRT1071199	hsa-miR-606	CLIP-seq
MIRT1071200	hsa-miR-607	CLIP-seq
MIRT1071201	hsa-miR-625	CLIP-seq
MIRT1071202	hsa-miR-634	CLIP-seq
MIRT1071203	hsa-miR-647	CLIP-seq
MIRT1071204	hsa-miR-889	CLIP-seq
MIRT1071205	hsa-miR-93	CLIP-seq
MIRT1071206	hsa-miR-936	CLIP-seq
MIRT1071088	hsa-miR-124	CLIP-seq
MIRT1071120	hsa-miR-323-3p	CLIP-seq
MIRT1071140	hsa-miR-4255	CLIP-seq
MIRT1071158	hsa-miR-4652-3p	CLIP-seq
MIRT1071180	hsa-miR-506	CLIP-seq
MIRT1071190	hsa-miR-556-3p	CLIP-seq
MIRT1071193	hsa-miR-582-5p	CLIP-seq
MIRT1071199	hsa-miR-606	CLIP-seq
MIRT1071112	hsa-miR-2682	CLIP-seq
MIRT1071151	hsa-miR-449c	CLIP-seq
MIRT1071112	hsa-miR-2682	CLIP-seq
MIRT1071151	hsa-miR-449c	CLIP-seq
MIRT1071112	hsa-miR-2682	CLIP-seq
MIRT1071151	hsa-miR-449c	CLIP-seq
MIRT1071112	hsa-miR-2682	CLIP-seq
MIRT1071151	hsa-miR-449c	CLIP-seq
MIRT1071086	hsa-miR-1179	CLIP-seq
MIRT1071112	hsa-miR-2682	CLIP-seq
MIRT1071151	hsa-miR-449c	CLIP-seq
MIRT1071086	hsa-miR-1179	CLIP-seq
MIRT1071112	hsa-miR-2682	CLIP-seq
MIRT1071151	hsa-miR-449c	CLIP-seq
MIRT1071083	hsa-miR-105	CLIP-seq
MIRT1071086	hsa-miR-1179	CLIP-seq
MIRT1071087	hsa-miR-1226	CLIP-seq
MIRT1071088	hsa-miR-124	CLIP-seq
MIRT1071089	hsa-miR-1275	CLIP-seq
MIRT2017511	hsa-miR-129-5p	CLIP-seq
MIRT1071090	hsa-miR-1321	CLIP-seq
MIRT1071091	hsa-miR-136	CLIP-seq
MIRT1071092	hsa-miR-142-5p	CLIP-seq
MIRT1071093	hsa-miR-147	CLIP-seq
MIRT1071094	hsa-miR-15a	CLIP-seq
MIRT1071095	hsa-miR-15b	CLIP-seq
MIRT1071096	hsa-miR-16	CLIP-seq
MIRT1071098	hsa-miR-181a	CLIP-seq
MIRT1071099	hsa-miR-181b	CLIP-seq
MIRT1071100	hsa-miR-181c	CLIP-seq
MIRT1071101	hsa-miR-181d	CLIP-seq
MIRT1071102	hsa-miR-195	CLIP-seq
MIRT1071103	hsa-miR-1973	CLIP-seq
MIRT1071104	hsa-miR-199a-3p	CLIP-seq
MIRT1071105	hsa-miR-199b-3p	CLIP-seq
MIRT1071106	hsa-miR-205	CLIP-seq
MIRT1071109	hsa-miR-21	CLIP-seq
MIRT1071110	hsa-miR-2113	CLIP-seq
MIRT1071111	hsa-miR-2278	CLIP-seq
MIRT2017512	hsa-miR-28-5p	CLIP-seq
MIRT1071114	hsa-miR-3129-5p	CLIP-seq
MIRT2017513	hsa-miR-3139	CLIP-seq
MIRT1071115	hsa-miR-3143	CLIP-seq
MIRT1071117	hsa-miR-3173-3p	CLIP-seq
MIRT1071118	hsa-miR-3184	CLIP-seq
MIRT2017514	hsa-miR-3185	CLIP-seq
MIRT1071119	hsa-miR-3189-3p	CLIP-seq
MIRT1071120	hsa-miR-323-3p	CLIP-seq
MIRT1071121	hsa-miR-323b-3p	CLIP-seq
MIRT1071122	hsa-miR-329	CLIP-seq
MIRT1071123	hsa-miR-340	CLIP-seq
MIRT1071126	hsa-miR-362-3p	CLIP-seq
MIRT1071127	hsa-miR-362-5p	CLIP-seq
MIRT2017515	hsa-miR-3646	CLIP-seq
MIRT1071128	hsa-miR-3663-5p	CLIP-seq
MIRT1071129	hsa-miR-3671	CLIP-seq
MIRT1071130	hsa-miR-3686	CLIP-seq
MIRT1071131	hsa-miR-3689d	CLIP-seq
MIRT1071132	hsa-miR-3919	CLIP-seq
MIRT1071133	hsa-miR-3935	CLIP-seq
MIRT1071135	hsa-miR-3941	CLIP-seq
MIRT1071136	hsa-miR-3942-3p	CLIP-seq
MIRT1071138	hsa-miR-423-5p	CLIP-seq
MIRT1071139	hsa-miR-424	CLIP-seq
MIRT1071140	hsa-miR-4255	CLIP-seq
MIRT1071143	hsa-miR-4262	CLIP-seq
MIRT1071144	hsa-miR-4274	CLIP-seq
MIRT1071145	hsa-miR-4419a	CLIP-seq
MIRT1071146	hsa-miR-4422	CLIP-seq
MIRT1071147	hsa-miR-4436b-3p	CLIP-seq
MIRT1071149	hsa-miR-4452	CLIP-seq
MIRT1071150	hsa-miR-4468	CLIP-seq
MIRT2017516	hsa-miR-4470	CLIP-seq
MIRT2017517	hsa-miR-4487	CLIP-seq
MIRT2017518	hsa-miR-450b-5p	CLIP-seq
MIRT1071153	hsa-miR-4510	CLIP-seq
MIRT1071154	hsa-miR-452	CLIP-seq
MIRT1071156	hsa-miR-4530	CLIP-seq
MIRT1071157	hsa-miR-4639-5p	CLIP-seq
MIRT1071158	hsa-miR-4652-3p	CLIP-seq
MIRT1071159	hsa-miR-4665-5p	CLIP-seq
MIRT2017519	hsa-miR-4670-3p	CLIP-seq
MIRT1071160	hsa-miR-4676-3p	CLIP-seq
MIRT1071161	hsa-miR-4693-3p	CLIP-seq
MIRT1071162	hsa-miR-4710	CLIP-seq
MIRT1071164	hsa-miR-4716-5p	CLIP-seq
MIRT1071165	hsa-miR-4720-3p	CLIP-seq
MIRT1071167	hsa-miR-4728-5p	CLIP-seq
MIRT1071168	hsa-miR-4739	CLIP-seq
MIRT1071169	hsa-miR-4756-3p	CLIP-seq
MIRT1071170	hsa-miR-4756-5p	CLIP-seq
MIRT1071171	hsa-miR-4761-3p	CLIP-seq
MIRT1071172	hsa-miR-4778-5p	CLIP-seq
MIRT1071174	hsa-miR-4804-3p	CLIP-seq
MIRT1071176	hsa-miR-495	CLIP-seq
MIRT1071177	hsa-miR-497	CLIP-seq
MIRT1071178	hsa-miR-500b	CLIP-seq
MIRT1071179	hsa-miR-501-5p	CLIP-seq
MIRT1071180	hsa-miR-506	CLIP-seq
MIRT2017520	hsa-miR-507	CLIP-seq
MIRT1071181	hsa-miR-513b	CLIP-seq
MIRT1071182	hsa-miR-515-5p	CLIP-seq
MIRT1071185	hsa-miR-520d-5p	CLIP-seq
MIRT1071186	hsa-miR-524-5p	CLIP-seq
MIRT1071187	hsa-miR-543	CLIP-seq
MIRT1071190	hsa-miR-556-3p	CLIP-seq
MIRT2017521	hsa-miR-557	CLIP-seq
MIRT1071191	hsa-miR-568	CLIP-seq
MIRT1071193	hsa-miR-582-5p	CLIP-seq
MIRT1071194	hsa-miR-590-5p	CLIP-seq
MIRT1071195	hsa-miR-599	CLIP-seq
MIRT1071196	hsa-miR-601	CLIP-seq
MIRT1071197	hsa-miR-603	CLIP-seq
MIRT1071198	hsa-miR-604	CLIP-seq
MIRT1071199	hsa-miR-606	CLIP-seq
MIRT1071200	hsa-miR-607	CLIP-seq
MIRT1071202	hsa-miR-634	CLIP-seq
MIRT1071203	hsa-miR-647	CLIP-seq
MIRT2017522	hsa-miR-708	CLIP-seq
MIRT1071206	hsa-miR-936	CLIP-seq
MIRT1071083	hsa-miR-105	CLIP-seq
MIRT1071086	hsa-miR-1179	CLIP-seq
MIRT1071087	hsa-miR-1226	CLIP-seq
MIRT1071088	hsa-miR-124	CLIP-seq
MIRT2249448	hsa-miR-1252	CLIP-seq
MIRT2249449	hsa-miR-1284	CLIP-seq
MIRT1071091	hsa-miR-136	CLIP-seq
MIRT2249450	hsa-miR-141	CLIP-seq
MIRT1071092	hsa-miR-142-5p	CLIP-seq
MIRT1071094	hsa-miR-15a	CLIP-seq
MIRT1071095	hsa-miR-15b	CLIP-seq
MIRT1071096	hsa-miR-16	CLIP-seq
MIRT1071098	hsa-miR-181a	CLIP-seq
MIRT1071099	hsa-miR-181b	CLIP-seq
MIRT1071100	hsa-miR-181c	CLIP-seq
MIRT1071101	hsa-miR-181d	CLIP-seq
MIRT1071102	hsa-miR-195	CLIP-seq
MIRT2249451	hsa-miR-197	CLIP-seq
MIRT1071103	hsa-miR-1973	CLIP-seq
MIRT1071104	hsa-miR-199a-3p	CLIP-seq
MIRT1071105	hsa-miR-199b-3p	CLIP-seq
MIRT2249452	hsa-miR-200a	CLIP-seq
MIRT1071106	hsa-miR-205	CLIP-seq
MIRT1071109	hsa-miR-21	CLIP-seq
MIRT1071111	hsa-miR-2278	CLIP-seq
MIRT1071112	hsa-miR-2682	CLIP-seq
MIRT1071114	hsa-miR-3129-5p	CLIP-seq
MIRT1071116	hsa-miR-3154	CLIP-seq
MIRT2017514	hsa-miR-3185	CLIP-seq
MIRT1071120	hsa-miR-323-3p	CLIP-seq
MIRT1071121	hsa-miR-323b-3p	CLIP-seq
MIRT1071122	hsa-miR-329	CLIP-seq
MIRT1071123	hsa-miR-340	CLIP-seq
MIRT1071125	hsa-miR-3614-5p	CLIP-seq
MIRT1071126	hsa-miR-362-3p	CLIP-seq
MIRT1071127	hsa-miR-362-5p	CLIP-seq
MIRT2017515	hsa-miR-3646	CLIP-seq
MIRT1071129	hsa-miR-3671	CLIP-seq
MIRT1071130	hsa-miR-3686	CLIP-seq
MIRT1071133	hsa-miR-3935	CLIP-seq
MIRT1071135	hsa-miR-3941	CLIP-seq
MIRT1071137	hsa-miR-421	CLIP-seq
MIRT1071139	hsa-miR-424	CLIP-seq
MIRT1071140	hsa-miR-4255	CLIP-seq
MIRT1071142	hsa-miR-4260	CLIP-seq
MIRT1071143	hsa-miR-4262	CLIP-seq
MIRT1071144	hsa-miR-4274	CLIP-seq
MIRT1071146	hsa-miR-4422	CLIP-seq
MIRT2249453	hsa-miR-4432	CLIP-seq
MIRT1071150	hsa-miR-4468	CLIP-seq
MIRT2017516	hsa-miR-4470	CLIP-seq
MIRT1071151	hsa-miR-449c	CLIP-seq
MIRT1071154	hsa-miR-452	CLIP-seq
MIRT1071156	hsa-miR-4530	CLIP-seq
MIRT2249454	hsa-miR-4637	CLIP-seq
MIRT1071157	hsa-miR-4639-5p	CLIP-seq
MIRT1071158	hsa-miR-4652-3p	CLIP-seq
MIRT2017519	hsa-miR-4670-3p	CLIP-seq
MIRT1071160	hsa-miR-4676-3p	CLIP-seq
MIRT1071163	hsa-miR-4711-5p	CLIP-seq
MIRT1071164	hsa-miR-4716-5p	CLIP-seq
MIRT1071165	hsa-miR-4720-3p	CLIP-seq
MIRT2249455	hsa-miR-4727-5p	CLIP-seq
MIRT2249456	hsa-miR-4769-3p	CLIP-seq
MIRT1071172	hsa-miR-4778-5p	CLIP-seq
MIRT2249457	hsa-miR-4796-5p	CLIP-seq
MIRT1071174	hsa-miR-4804-3p	CLIP-seq
MIRT1071175	hsa-miR-486-3p	CLIP-seq
MIRT1071176	hsa-miR-495	CLIP-seq
MIRT1071177	hsa-miR-497	CLIP-seq
MIRT2249458	hsa-miR-499-5p	CLIP-seq
MIRT1071178	hsa-miR-500b	CLIP-seq
MIRT1071179	hsa-miR-501-5p	CLIP-seq
MIRT1071180	hsa-miR-506	CLIP-seq
MIRT2249459	hsa-miR-5096	CLIP-seq
MIRT1071182	hsa-miR-515-5p	CLIP-seq
MIRT1071183	hsa-miR-517b	CLIP-seq
MIRT1071185	hsa-miR-520d-5p	CLIP-seq
MIRT1071186	hsa-miR-524-5p	CLIP-seq
MIRT1071187	hsa-miR-543	CLIP-seq
MIRT1071189	hsa-miR-548p	CLIP-seq
MIRT1071191	hsa-miR-568	CLIP-seq
MIRT1071193	hsa-miR-582-5p	CLIP-seq
MIRT1071194	hsa-miR-590-5p	CLIP-seq
MIRT1071197	hsa-miR-603	CLIP-seq
MIRT1071199	hsa-miR-606	CLIP-seq
MIRT1071200	hsa-miR-607	CLIP-seq
MIRT1071202	hsa-miR-634	CLIP-seq
MIRT1071206	hsa-miR-936	CLIP-seq
MIRT1071087	hsa-miR-1226	CLIP-seq
MIRT1071089	hsa-miR-1275	CLIP-seq
MIRT1071094	hsa-miR-15a	CLIP-seq
MIRT1071095	hsa-miR-15b	CLIP-seq
MIRT1071096	hsa-miR-16	CLIP-seq
MIRT1071102	hsa-miR-195	CLIP-seq
MIRT1071115	hsa-miR-3143	CLIP-seq
MIRT1071118	hsa-miR-3184	CLIP-seq
MIRT1071122	hsa-miR-329	CLIP-seq
MIRT1071126	hsa-miR-362-3p	CLIP-seq
MIRT1071135	hsa-miR-3941	CLIP-seq
MIRT1071138	hsa-miR-423-5p	CLIP-seq
MIRT1071139	hsa-miR-424	CLIP-seq
MIRT1071144	hsa-miR-4274	CLIP-seq
MIRT1071155	hsa-miR-4525	CLIP-seq
MIRT1071156	hsa-miR-4530	CLIP-seq
MIRT1071157	hsa-miR-4639-5p	CLIP-seq
MIRT1071159	hsa-miR-4665-5p	CLIP-seq
MIRT1071166	hsa-miR-4723-5p	CLIP-seq
MIRT1071167	hsa-miR-4728-5p	CLIP-seq
MIRT1071177	hsa-miR-497	CLIP-seq
MIRT1071181	hsa-miR-513b	CLIP-seq
MIRT1071185	hsa-miR-520d-5p	CLIP-seq
MIRT1071186	hsa-miR-524-5p	CLIP-seq
MIRT1071187	hsa-miR-543	CLIP-seq
MIRT1071197	hsa-miR-603	CLIP-seq
MIRT1071201	hsa-miR-625	CLIP-seq
MIRT1071202	hsa-miR-634	CLIP-seq
MIRT1071086	hsa-miR-1179	CLIP-seq
MIRT1071089	hsa-miR-1275	CLIP-seq
MIRT2249449	hsa-miR-1284	CLIP-seq
MIRT2017511	hsa-miR-129-5p	CLIP-seq
MIRT1071112	hsa-miR-2682	CLIP-seq
MIRT2017514	hsa-miR-3185	CLIP-seq
MIRT1071119	hsa-miR-3189-3p	CLIP-seq
MIRT2017515	hsa-miR-3646	CLIP-seq
MIRT2249453	hsa-miR-4432	CLIP-seq
MIRT1071151	hsa-miR-449c	CLIP-seq
MIRT2017518	hsa-miR-450b-5p	CLIP-seq
MIRT2249454	hsa-miR-4637	CLIP-seq
MIRT1071159	hsa-miR-4665-5p	CLIP-seq
MIRT2017519	hsa-miR-4670-3p	CLIP-seq
MIRT2249457	hsa-miR-4796-5p	CLIP-seq
MIRT2249458	hsa-miR-499-5p	CLIP-seq
MIRT2017520	hsa-miR-507	CLIP-seq
MIRT1071181	hsa-miR-513b	CLIP-seq
MIRT2017521	hsa-miR-557	CLIP-seq
MIRT1071200	hsa-miR-607	CLIP-seq
MIRT1071086	hsa-miR-1179	CLIP-seq
MIRT1071112	hsa-miR-2682	CLIP-seq
MIRT1071151	hsa-miR-449c	CLIP-seq
MIRT1071086	hsa-miR-1179	CLIP-seq
MIRT1071112	hsa-miR-2682	CLIP-seq
MIRT1071151	hsa-miR-449c	CLIP-seq
MIRT1071083	hsa-miR-105	CLIP-seq
MIRT1071106	hsa-miR-205	CLIP-seq
MIRT1071109	hsa-miR-21	CLIP-seq
MIRT2017514	hsa-miR-3185	CLIP-seq
MIRT1071121	hsa-miR-323b-3p	CLIP-seq
MIRT1071127	hsa-miR-362-5p	CLIP-seq
MIRT2017515	hsa-miR-3646	CLIP-seq
MIRT1071129	hsa-miR-3671	CLIP-seq
MIRT2017519	hsa-miR-4670-3p	CLIP-seq
MIRT1071165	hsa-miR-4720-3p	CLIP-seq
MIRT1071174	hsa-miR-4804-3p	CLIP-seq
MIRT1071178	hsa-miR-500b	CLIP-seq
MIRT1071179	hsa-miR-501-5p	CLIP-seq
MIRT1071194	hsa-miR-590-5p	CLIP-seq
MIRT1071200	hsa-miR-607	CLIP-seq
MIRT1071083	hsa-miR-105	CLIP-seq
MIRT1071106	hsa-miR-205	CLIP-seq
MIRT1071109	hsa-miR-21	CLIP-seq
MIRT2017514	hsa-miR-3185	CLIP-seq
MIRT1071121	hsa-miR-323b-3p	CLIP-seq
MIRT1071127	hsa-miR-362-5p	CLIP-seq
MIRT2017515	hsa-miR-3646	CLIP-seq
MIRT1071129	hsa-miR-3671	CLIP-seq
MIRT2017519	hsa-miR-4670-3p	CLIP-seq
MIRT1071165	hsa-miR-4720-3p	CLIP-seq
MIRT1071174	hsa-miR-4804-3p	CLIP-seq
MIRT1071178	hsa-miR-500b	CLIP-seq
MIRT1071179	hsa-miR-501-5p	CLIP-seq
MIRT1071194	hsa-miR-590-5p	CLIP-seq
MIRT1071200	hsa-miR-607	CLIP-seq

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	17627301
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0005515	Function	Protein binding	IPI	29374064
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS	17627301
GO:0005634	Component	Nucleus	NAS	11095982
GO:0005654	Component	Nucleoplasm	IDA
GO:0007399	Process	Nervous system development	IMP	30057031
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17627301
GO:0046543	Process	Development of secondary female sexual characteristics	ISS	17627301
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	29374064
GO:0061630	Function	Ubiquitin protein ligase activity	IEA

MIM	HGNC	e!Ensembl
611720	14282	ENSG00000119669

Q9H1B7

Protein name

Probable E3 ubiquitin-protein ligase IRF2BPL (EC 2.3.2.27) (Enhanced at puberty protein 1) (Interferon regulatory factor 2-binding protein-like)

Protein function

Probable E3 ubiquitin protein ligase involved in the proteasome-mediated ubiquitin-dependent degradation of target proteins (PubMed:29374064). Through the degradation of CTNNB1, functions downstream of FOXF2 to negatively regulate the Wnt signal

PDB

2CS3

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF11261	IRF-2BP1_2	10 → 61	Interferon regulatory factor 2-binding protein zinc finger	Domain

Tissue specificity

TISSUE SPECIFICITY: Highly expressed in the heart, moderately in skeletal muscle and pancreas, and weakly in brain, kidney, liver, testis, thyroid gland and lymphocytes. {ECO:0000269|PubMed:11095982}.

Sequence

MSAAQVSSSRRQSCYLCDLPRMPWAMIWDFSEPVCRGCVNYEGADRIEFVIETARQLKRA
HGCFQDGRSPGPPPPVGVKTVALSAKEAAAAAAAAAAAAAAAQQQQQQQQQQQQQQQQQQ
QQQQQQQLNHVDGSSKPAVLAAPSGLERYGLSAAAAAAAAAAAAVEQRSRFEYPPPPVSL
GSSSHTARLPNGLGGPNGFPKPTPEEGPPELNRQSPNSSSAAASVASRRGTHGGLVTGLP
NPGGGGGPQLTVPPNLLPQTLLNGPASAAVLPPPPPHALGSRGPPTPAPPGAPGGPACLG
GTPGVSATSSSASSSTSSSVAEVGVGAGGKRPGSVSSTDQERELKEKQRNAEALAELSES
LRNRAEEWASKPKMVRDTLLTLAGCTPYEVRFKKDHSLLGRVFAFDAVSKPGMDYELKLF
IEYPTGSGNVYSSASGVAKQMYQDCMKDFGRGLSSGFKYLEYEKKHGSGDWRLLGDLLPE
AVRFFKEGVPGADMLPQPYLDASCPMLPTALVSLSRAPSAPPGTGALPPAAPSGRGAAAS
LRKRKASPEPPDSAEGALKLGEEQQRQQWMANQSEALKLTMSAGGFAAPGHAAGGPPPPP
PPLGPHSNRTTPPESAPQNGPSPMAALMSVADTLGTAHSPKDGSSVHSTTASARRNSSSP
VSPASVPGQRRLASRNGDLNLQVAPPPPSAHPGMDQVHPQNIPDSPMANSGPLCCTICHE
RLEDTHFVQCPSVPSHKFCFPCSRESIKAQGATGEVYCPSGEKCPLVGSNVPWAFMQGEI
ATILAGDVKVKKERDP

Sequence length

796

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 (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autism spectrum disorder	Pathogenic	rs2503074890	RCV003127448	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic	rs759071794	RCV001526659	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
IRF2BPL-related disorder	Likely pathogenic; Pathogenic	rs2140377628, rs2503076331, rs1448259271, rs1345176461, rs1566785444, rs1566785990, rs1566786613	RCV004734278 RCV003400054 RCV000625992 RCV000708589 RCV000708590 RCV000708571 RCV003396326 View all (2 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs1594798157	RCV000853372	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	Likely pathogenic; Pathogenic	rs1885132124, rs1885106828, rs2140377628, rs2140377197, rs1466417547, rs1885090179, rs2139976004, rs1160246842, rs2140377693, rs2139976167, rs2503078108, rs2503074347, rs2503074542, rs1257576855, rs2503076418 View all (24 more)	RCV001331299 RCV001352690 RCV001807929 RCV002221947 RCV002226882 View all (35 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic paraplegia	Likely pathogenic	rs2503078768	RCV002463870	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

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.
ATRIAL FIBRILLATION	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Developmental disorder	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERFERON REGULATORY FACTOR 2 BINDING PROTEIN LIKE-RELATED REGRESSIVE NEURODEVELOPMENTAL DISORDER, DYSTONIA, SEIZURES SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISEASE	—	CTD, ClinGen	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodevelopmental abnormality	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rare genetic intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (60)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Abducens Nerve Palsy	Abducens palsy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	36670390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	30061737		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophy of corpus callosum	Atrophy Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	33278788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Choreoathetosis	Choreoathetosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital dermal melanocytosis	Congenital Dermal Melanocytosis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	33278788	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	Pubtator	36670390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11095982, 17627301, 21444724, 25363768, 28135719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	36670390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	30166628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31432588		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	36670390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	30166628		★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Esotropia	Esotropia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Exotropia	Exotropia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fecal Incontinence	Bowel incontinence	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Flexion contracture - wrist	Flexion Contracture Of Wrist	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroparesis	Gastroparesis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gross motor development delay	Developmental delay	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile Spasm	Infantile Spasms	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Language Development Disorders	Language development disorders	Pubtator	36670390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29374064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11095982, 17627301, 21444724, 25363768, 28135719		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES	Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	GENOMICS_ENGLAND_DG	25363768, 30166628		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES	Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	UNIPROT_DG	30057031, 30166628		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES	Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nystagmus	Nystagmus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	35733354	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid neoplasm	Pubtator	38509667	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	30061737		★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive cerebellar ataxia	Cerebellar Ataxia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Quadriplegia	Quadriplegia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	36670390	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Spastic Quadriplegia	Spastic Quadriplegia	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29374064		★★★★★ ★☆☆☆☆ Found in Text Mining only
Trismus	Trismus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

IRF2BPL (interferon regulatory factor 2 binding protein like)