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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	26999
Gene name	Cytoplasmic FMR1 interacting protein 2
Gene symbol	CYFIP2
Synonyms (NCBI Gene)	DEE65EIEE65PIR121
Chromosome	5
Chromosome location	5q33.3

Show/Hide all (5)

SNP ID	Visualize variation	Clinical significance	Consequence
rs971284726	G>A,C	Likely-pathogenic	Missense variant, synonymous variant, non coding transcript variant, coding sequence variant
rs1131692231	C>A,T	Pathogenic-likely-pathogenic, likely-pathogenic	Missense variant, coding sequence variant, intron variant, non coding transcript variant
rs1554108163	G>C,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, missense variant
rs1581069143	G>T	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1581069148	A>G	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant

487

Show/Hide all (487)

miRTarBase ID	miRNA	Experiments	Reference
MIRT045595	hsa-miR-149-5p	CLASH	23622248
MIRT042505	hsa-miR-423-3p	CLASH	23622248
MIRT053358	hsa-miR-9-5p	MicroarrayqRT-PCR	23798388
MIRT920181	hsa-miR-374c	CLIP-seq
MIRT920182	hsa-miR-655	CLIP-seq
MIRT920183	hsa-miR-1184	CLIP-seq
MIRT920184	hsa-miR-1205	CLIP-seq
MIRT920185	hsa-miR-2115	CLIP-seq
MIRT920186	hsa-miR-298	CLIP-seq
MIRT920187	hsa-miR-3158-5p	CLIP-seq
MIRT920188	hsa-miR-320a	CLIP-seq
MIRT920189	hsa-miR-320b	CLIP-seq
MIRT920190	hsa-miR-320c	CLIP-seq
MIRT920191	hsa-miR-320d	CLIP-seq
MIRT920192	hsa-miR-330-3p	CLIP-seq
MIRT920193	hsa-miR-375	CLIP-seq
MIRT920194	hsa-miR-3938	CLIP-seq
MIRT920195	hsa-miR-4429	CLIP-seq
MIRT920196	hsa-miR-4434	CLIP-seq
MIRT920197	hsa-miR-4516	CLIP-seq
MIRT920198	hsa-miR-4531	CLIP-seq
MIRT920199	hsa-miR-4534	CLIP-seq
MIRT920200	hsa-miR-4654	CLIP-seq
MIRT920201	hsa-miR-4756-3p	CLIP-seq
MIRT920202	hsa-miR-4769-5p	CLIP-seq
MIRT920203	hsa-miR-516a-3p	CLIP-seq
MIRT920204	hsa-miR-544	CLIP-seq
MIRT920205	hsa-miR-579	CLIP-seq
MIRT1972712	hsa-miR-140-3p	CLIP-seq
MIRT1972713	hsa-miR-4326	CLIP-seq
MIRT1972714	hsa-miR-4495	CLIP-seq
MIRT920205	hsa-miR-579	CLIP-seq
MIRT2208353	hsa-miR-1236	CLIP-seq
MIRT2208354	hsa-miR-1272	CLIP-seq
MIRT2208355	hsa-miR-1321	CLIP-seq
MIRT2208356	hsa-miR-1322	CLIP-seq
MIRT2208357	hsa-miR-143	CLIP-seq
MIRT2208358	hsa-miR-1587	CLIP-seq
MIRT2208359	hsa-miR-185	CLIP-seq
MIRT2208360	hsa-miR-1909	CLIP-seq
MIRT2208361	hsa-miR-214	CLIP-seq
MIRT2208362	hsa-miR-3135b	CLIP-seq
MIRT2208363	hsa-miR-3162-5p	CLIP-seq
MIRT2208364	hsa-miR-3182	CLIP-seq
MIRT2208365	hsa-miR-3190	CLIP-seq
MIRT2208366	hsa-miR-339-5p	CLIP-seq
MIRT2208367	hsa-miR-3619-5p	CLIP-seq
MIRT2208368	hsa-miR-3652	CLIP-seq
MIRT2208369	hsa-miR-3682-5p	CLIP-seq
MIRT2208370	hsa-miR-378g	CLIP-seq
MIRT2208371	hsa-miR-383	CLIP-seq
MIRT2208372	hsa-miR-4264	CLIP-seq
MIRT2208373	hsa-miR-4287	CLIP-seq
MIRT2208374	hsa-miR-4292	CLIP-seq
MIRT2208375	hsa-miR-4306	CLIP-seq
MIRT2208376	hsa-miR-4308	CLIP-seq
MIRT2208377	hsa-miR-4430	CLIP-seq
MIRT920196	hsa-miR-4434	CLIP-seq
MIRT2208378	hsa-miR-4457	CLIP-seq
MIRT2208379	hsa-miR-4492	CLIP-seq
MIRT2208380	hsa-miR-4498	CLIP-seq
MIRT920197	hsa-miR-4516	CLIP-seq
MIRT2208381	hsa-miR-4528	CLIP-seq
MIRT920198	hsa-miR-4531	CLIP-seq
MIRT2208382	hsa-miR-4644	CLIP-seq
MIRT2208383	hsa-miR-4650-5p	CLIP-seq
MIRT2208384	hsa-miR-4656	CLIP-seq
MIRT2208385	hsa-miR-4674	CLIP-seq
MIRT2208386	hsa-miR-4675	CLIP-seq
MIRT2208387	hsa-miR-4685-3p	CLIP-seq
MIRT2208388	hsa-miR-4690-5p	CLIP-seq
MIRT2208389	hsa-miR-4698	CLIP-seq
MIRT2208390	hsa-miR-4728-5p	CLIP-seq
MIRT2208391	hsa-miR-4739	CLIP-seq
MIRT2208392	hsa-miR-4741	CLIP-seq
MIRT2208393	hsa-miR-4756-5p	CLIP-seq
MIRT2208394	hsa-miR-4768-3p	CLIP-seq
MIRT2208395	hsa-miR-4768-5p	CLIP-seq
MIRT2208396	hsa-miR-4770	CLIP-seq
MIRT2208397	hsa-miR-4772-5p	CLIP-seq
MIRT2208398	hsa-miR-4794	CLIP-seq
MIRT2208399	hsa-miR-513b	CLIP-seq
MIRT2208400	hsa-miR-539	CLIP-seq
MIRT2208401	hsa-miR-622	CLIP-seq
MIRT2208402	hsa-miR-665	CLIP-seq
MIRT2208403	hsa-miR-670	CLIP-seq
MIRT2208404	hsa-miR-7	CLIP-seq
MIRT2208405	hsa-miR-761	CLIP-seq
MIRT2208406	hsa-miR-762	CLIP-seq
MIRT2208407	hsa-miR-934	CLIP-seq
MIRT2208408	hsa-miR-942	CLIP-seq
MIRT2512096	hsa-miR-1	CLIP-seq
MIRT920184	hsa-miR-1205	CLIP-seq
MIRT2512097	hsa-miR-1206	CLIP-seq
MIRT2512098	hsa-miR-1237	CLIP-seq
MIRT2512099	hsa-miR-124	CLIP-seq
MIRT2512100	hsa-miR-1251	CLIP-seq
MIRT2512101	hsa-miR-1257	CLIP-seq
MIRT2512102	hsa-miR-125a-5p	CLIP-seq
MIRT2512103	hsa-miR-125b	CLIP-seq
MIRT2512104	hsa-miR-1276	CLIP-seq
MIRT2512105	hsa-miR-128	CLIP-seq
MIRT2512106	hsa-miR-1285	CLIP-seq
MIRT2208355	hsa-miR-1321	CLIP-seq
MIRT2512107	hsa-miR-1343	CLIP-seq
MIRT1972712	hsa-miR-140-3p	CLIP-seq
MIRT2208357	hsa-miR-143	CLIP-seq
MIRT2512108	hsa-miR-149	CLIP-seq
MIRT2208358	hsa-miR-1587	CLIP-seq
MIRT2512109	hsa-miR-1827	CLIP-seq
MIRT2208359	hsa-miR-185	CLIP-seq
MIRT2208360	hsa-miR-1909	CLIP-seq
MIRT2512110	hsa-miR-203	CLIP-seq
MIRT2512111	hsa-miR-2052	CLIP-seq
MIRT2512112	hsa-miR-206	CLIP-seq
MIRT920185	hsa-miR-2115	CLIP-seq
MIRT2208361	hsa-miR-214	CLIP-seq
MIRT2512113	hsa-miR-216a	CLIP-seq
MIRT2512114	hsa-miR-2355-5p	CLIP-seq
MIRT2512115	hsa-miR-27a	CLIP-seq
MIRT2512116	hsa-miR-27b	CLIP-seq
MIRT2512117	hsa-miR-2909	CLIP-seq
MIRT2512118	hsa-miR-299-3p	CLIP-seq
MIRT2512119	hsa-miR-3064-5p	CLIP-seq
MIRT2512120	hsa-miR-3120-3p	CLIP-seq
MIRT2512121	hsa-miR-3121-3p	CLIP-seq
MIRT2512122	hsa-miR-3121-5p	CLIP-seq
MIRT2512123	hsa-miR-3122	CLIP-seq
MIRT2512124	hsa-miR-3132	CLIP-seq
MIRT2512125	hsa-miR-3140-3p	CLIP-seq
MIRT2512126	hsa-miR-3151	CLIP-seq
MIRT2512127	hsa-miR-3158-3p	CLIP-seq
MIRT2208363	hsa-miR-3162-5p	CLIP-seq
MIRT2512128	hsa-miR-3170	CLIP-seq
MIRT2512129	hsa-miR-3176	CLIP-seq
MIRT2208364	hsa-miR-3182	CLIP-seq
MIRT2512130	hsa-miR-3183	CLIP-seq
MIRT2512131	hsa-miR-3187-5p	CLIP-seq
MIRT2208365	hsa-miR-3190	CLIP-seq
MIRT2512132	hsa-miR-3192	CLIP-seq
MIRT2512133	hsa-miR-3201	CLIP-seq
MIRT2512134	hsa-miR-320e	CLIP-seq
MIRT2512135	hsa-miR-326	CLIP-seq
MIRT2512136	hsa-miR-330-5p	CLIP-seq
MIRT2512137	hsa-miR-331-3p	CLIP-seq
MIRT2512138	hsa-miR-342-5p	CLIP-seq
MIRT2512139	hsa-miR-3613-3p	CLIP-seq
MIRT2512140	hsa-miR-3619-3p	CLIP-seq
MIRT2208367	hsa-miR-3619-5p	CLIP-seq
MIRT2512141	hsa-miR-3622b-5p	CLIP-seq
MIRT2512142	hsa-miR-3649	CLIP-seq
MIRT2512143	hsa-miR-3662	CLIP-seq
MIRT2512144	hsa-miR-3671	CLIP-seq
MIRT2512145	hsa-miR-3672	CLIP-seq
MIRT2512146	hsa-miR-3675-5p	CLIP-seq
MIRT2208369	hsa-miR-3682-5p	CLIP-seq
MIRT2512147	hsa-miR-3689a-3p	CLIP-seq
MIRT2512148	hsa-miR-3689c	CLIP-seq
MIRT2512149	hsa-miR-3714	CLIP-seq
MIRT2512150	hsa-miR-377	CLIP-seq
MIRT2208370	hsa-miR-378g	CLIP-seq
MIRT2208371	hsa-miR-383	CLIP-seq
MIRT2512151	hsa-miR-3910	CLIP-seq
MIRT2512152	hsa-miR-3913-5p	CLIP-seq
MIRT2512153	hsa-miR-3922-3p	CLIP-seq
MIRT2512154	hsa-miR-3925-5p	CLIP-seq
MIRT2512155	hsa-miR-3945	CLIP-seq
MIRT2512156	hsa-miR-4251	CLIP-seq
MIRT2512157	hsa-miR-4253	CLIP-seq
MIRT2512158	hsa-miR-4260	CLIP-seq
MIRT2512159	hsa-miR-4265	CLIP-seq
MIRT2512160	hsa-miR-4270	CLIP-seq
MIRT2512161	hsa-miR-4272	CLIP-seq
MIRT2512162	hsa-miR-4275	CLIP-seq
MIRT2512163	hsa-miR-4283	CLIP-seq
MIRT2512164	hsa-miR-4286	CLIP-seq
MIRT2208374	hsa-miR-4292	CLIP-seq
MIRT2512165	hsa-miR-4296	CLIP-seq
MIRT2208375	hsa-miR-4306	CLIP-seq
MIRT2512166	hsa-miR-4307	CLIP-seq
MIRT2208376	hsa-miR-4308	CLIP-seq
MIRT2512167	hsa-miR-4311	CLIP-seq
MIRT2512168	hsa-miR-4314	CLIP-seq
MIRT2512169	hsa-miR-4319	CLIP-seq
MIRT2512170	hsa-miR-4322	CLIP-seq
MIRT2512171	hsa-miR-4324	CLIP-seq
MIRT2512172	hsa-miR-4329	CLIP-seq
MIRT2512173	hsa-miR-4417	CLIP-seq
MIRT2512174	hsa-miR-4418	CLIP-seq
MIRT2512175	hsa-miR-4422	CLIP-seq
MIRT2512176	hsa-miR-4435	CLIP-seq
MIRT2512177	hsa-miR-4441	CLIP-seq
MIRT2512178	hsa-miR-4446-3p	CLIP-seq
MIRT2512179	hsa-miR-4447	CLIP-seq
MIRT2208378	hsa-miR-4457	CLIP-seq
MIRT2512180	hsa-miR-4472	CLIP-seq
MIRT2512181	hsa-miR-4477b	CLIP-seq
MIRT2512182	hsa-miR-4486	CLIP-seq
MIRT2512183	hsa-miR-4489	CLIP-seq
MIRT2512184	hsa-miR-4491	CLIP-seq
MIRT2208379	hsa-miR-4492	CLIP-seq
MIRT1972714	hsa-miR-4495	CLIP-seq
MIRT2208380	hsa-miR-4498	CLIP-seq
MIRT2512185	hsa-miR-4520b-3p	CLIP-seq
MIRT2512186	hsa-miR-4529-3p	CLIP-seq
MIRT2512187	hsa-miR-4532	CLIP-seq
MIRT2512188	hsa-miR-4535	CLIP-seq
MIRT2512189	hsa-miR-4536	CLIP-seq
MIRT2512190	hsa-miR-4639-5p	CLIP-seq
MIRT2208382	hsa-miR-4644	CLIP-seq
MIRT2512191	hsa-miR-4646-5p	CLIP-seq
MIRT2512192	hsa-miR-4649-3p	CLIP-seq
MIRT2208383	hsa-miR-4650-5p	CLIP-seq
MIRT2512193	hsa-miR-4651	CLIP-seq
MIRT2512194	hsa-miR-4653-3p	CLIP-seq
MIRT920200	hsa-miR-4654	CLIP-seq
MIRT2208384	hsa-miR-4656	CLIP-seq
MIRT2512195	hsa-miR-4657	CLIP-seq
MIRT2512196	hsa-miR-4664-5p	CLIP-seq
MIRT2208385	hsa-miR-4674	CLIP-seq
MIRT2208386	hsa-miR-4675	CLIP-seq
MIRT2512197	hsa-miR-4687-3p	CLIP-seq
MIRT2208388	hsa-miR-4690-5p	CLIP-seq
MIRT2512198	hsa-miR-4691-5p	CLIP-seq
MIRT2512199	hsa-miR-4693-3p	CLIP-seq
MIRT2512200	hsa-miR-4701-5p	CLIP-seq
MIRT2512201	hsa-miR-4723-3p	CLIP-seq
MIRT2512202	hsa-miR-4727-5p	CLIP-seq
MIRT2208390	hsa-miR-4728-5p	CLIP-seq
MIRT2512203	hsa-miR-4731-3p	CLIP-seq
MIRT2512204	hsa-miR-4732-3p	CLIP-seq
MIRT2208391	hsa-miR-4739	CLIP-seq
MIRT2208392	hsa-miR-4741	CLIP-seq
MIRT2512205	hsa-miR-4747-5p	CLIP-seq
MIRT2512206	hsa-miR-4755-3p	CLIP-seq
MIRT2208393	hsa-miR-4756-5p	CLIP-seq
MIRT2208394	hsa-miR-4768-3p	CLIP-seq
MIRT2512207	hsa-miR-4769-3p	CLIP-seq
MIRT920202	hsa-miR-4769-5p	CLIP-seq
MIRT2208396	hsa-miR-4770	CLIP-seq
MIRT2208397	hsa-miR-4772-5p	CLIP-seq
MIRT2512208	hsa-miR-4773	CLIP-seq
MIRT2512209	hsa-miR-4776-5p	CLIP-seq
MIRT2512210	hsa-miR-4786-3p	CLIP-seq
MIRT2512211	hsa-miR-4791	CLIP-seq
MIRT2208398	hsa-miR-4794	CLIP-seq
MIRT2512212	hsa-miR-4796-5p	CLIP-seq
MIRT2512213	hsa-miR-4801	CLIP-seq
MIRT2512214	hsa-miR-485-3p	CLIP-seq
MIRT2512215	hsa-miR-488	CLIP-seq
MIRT2512216	hsa-miR-491-5p	CLIP-seq
MIRT2512217	hsa-miR-492	CLIP-seq
MIRT2512218	hsa-miR-494	CLIP-seq
MIRT2512219	hsa-miR-506	CLIP-seq
MIRT2512220	hsa-miR-509-3-5p	CLIP-seq
MIRT2512221	hsa-miR-509-5p	CLIP-seq
MIRT2512222	hsa-miR-513a-5p	CLIP-seq
MIRT920203	hsa-miR-516a-3p	CLIP-seq
MIRT2512223	hsa-miR-548a-3p	CLIP-seq
MIRT2512224	hsa-miR-548aa	CLIP-seq
MIRT2512225	hsa-miR-548c-3p	CLIP-seq
MIRT2512226	hsa-miR-548e	CLIP-seq
MIRT2512227	hsa-miR-548f	CLIP-seq
MIRT2512228	hsa-miR-550b	CLIP-seq
MIRT2512229	hsa-miR-583	CLIP-seq
MIRT2512230	hsa-miR-588	CLIP-seq
MIRT2512231	hsa-miR-593	CLIP-seq
MIRT2512232	hsa-miR-608	CLIP-seq
MIRT2512233	hsa-miR-612	CLIP-seq
MIRT2512234	hsa-miR-613	CLIP-seq
MIRT2512235	hsa-miR-615-5p	CLIP-seq
MIRT2208401	hsa-miR-622	CLIP-seq
MIRT2512236	hsa-miR-627	CLIP-seq
MIRT2512237	hsa-miR-635	CLIP-seq
MIRT2208402	hsa-miR-665	CLIP-seq
MIRT2208403	hsa-miR-670	CLIP-seq
MIRT2512238	hsa-miR-671-5p	CLIP-seq
MIRT2208405	hsa-miR-761	CLIP-seq
MIRT2208406	hsa-miR-762	CLIP-seq
MIRT2512239	hsa-miR-765	CLIP-seq
MIRT2512240	hsa-miR-889	CLIP-seq
MIRT2512241	hsa-miR-938	CLIP-seq
MIRT2512096	hsa-miR-1	CLIP-seq
MIRT920184	hsa-miR-1205	CLIP-seq
MIRT2512097	hsa-miR-1206	CLIP-seq
MIRT2512098	hsa-miR-1237	CLIP-seq
MIRT2512099	hsa-miR-124	CLIP-seq
MIRT2512100	hsa-miR-1251	CLIP-seq
MIRT2512101	hsa-miR-1257	CLIP-seq
MIRT2512102	hsa-miR-125a-5p	CLIP-seq
MIRT2512103	hsa-miR-125b	CLIP-seq
MIRT2512104	hsa-miR-1276	CLIP-seq
MIRT2512105	hsa-miR-128	CLIP-seq
MIRT2512106	hsa-miR-1285	CLIP-seq
MIRT2208355	hsa-miR-1321	CLIP-seq
MIRT2512107	hsa-miR-1343	CLIP-seq
MIRT1972712	hsa-miR-140-3p	CLIP-seq
MIRT2208357	hsa-miR-143	CLIP-seq
MIRT2512108	hsa-miR-149	CLIP-seq
MIRT2208358	hsa-miR-1587	CLIP-seq
MIRT2512109	hsa-miR-1827	CLIP-seq
MIRT2208359	hsa-miR-185	CLIP-seq
MIRT2208360	hsa-miR-1909	CLIP-seq
MIRT2678943	hsa-miR-194	CLIP-seq
MIRT2512110	hsa-miR-203	CLIP-seq
MIRT2512111	hsa-miR-2052	CLIP-seq
MIRT2512112	hsa-miR-206	CLIP-seq
MIRT920185	hsa-miR-2115	CLIP-seq
MIRT2208361	hsa-miR-214	CLIP-seq
MIRT2512113	hsa-miR-216a	CLIP-seq
MIRT2512114	hsa-miR-2355-5p	CLIP-seq
MIRT2512115	hsa-miR-27a	CLIP-seq
MIRT2512116	hsa-miR-27b	CLIP-seq
MIRT2512117	hsa-miR-2909	CLIP-seq
MIRT2512118	hsa-miR-299-3p	CLIP-seq
MIRT2512119	hsa-miR-3064-5p	CLIP-seq
MIRT2512120	hsa-miR-3120-3p	CLIP-seq
MIRT2512121	hsa-miR-3121-3p	CLIP-seq
MIRT2512122	hsa-miR-3121-5p	CLIP-seq
MIRT2512123	hsa-miR-3122	CLIP-seq
MIRT2512124	hsa-miR-3132	CLIP-seq
MIRT2208362	hsa-miR-3135b	CLIP-seq
MIRT2512125	hsa-miR-3140-3p	CLIP-seq
MIRT2512126	hsa-miR-3151	CLIP-seq
MIRT2512127	hsa-miR-3158-3p	CLIP-seq
MIRT2208363	hsa-miR-3162-5p	CLIP-seq
MIRT2512128	hsa-miR-3170	CLIP-seq
MIRT2512129	hsa-miR-3176	CLIP-seq
MIRT2208364	hsa-miR-3182	CLIP-seq
MIRT2512130	hsa-miR-3183	CLIP-seq
MIRT2512131	hsa-miR-3187-5p	CLIP-seq
MIRT2208365	hsa-miR-3190	CLIP-seq
MIRT2512132	hsa-miR-3192	CLIP-seq
MIRT2678944	hsa-miR-3194-3p	CLIP-seq
MIRT2512133	hsa-miR-3201	CLIP-seq
MIRT2512134	hsa-miR-320e	CLIP-seq
MIRT2512135	hsa-miR-326	CLIP-seq
MIRT2512136	hsa-miR-330-5p	CLIP-seq
MIRT2512137	hsa-miR-331-3p	CLIP-seq
MIRT2512138	hsa-miR-342-5p	CLIP-seq
MIRT2678945	hsa-miR-3607-3p	CLIP-seq
MIRT2512139	hsa-miR-3613-3p	CLIP-seq
MIRT2512140	hsa-miR-3619-3p	CLIP-seq
MIRT2208367	hsa-miR-3619-5p	CLIP-seq
MIRT2512141	hsa-miR-3622b-5p	CLIP-seq
MIRT2512142	hsa-miR-3649	CLIP-seq
MIRT2208368	hsa-miR-3652	CLIP-seq
MIRT2512144	hsa-miR-3671	CLIP-seq
MIRT2512145	hsa-miR-3672	CLIP-seq
MIRT2512146	hsa-miR-3675-5p	CLIP-seq
MIRT2208369	hsa-miR-3682-5p	CLIP-seq
MIRT2678946	hsa-miR-3686	CLIP-seq
MIRT2512147	hsa-miR-3689a-3p	CLIP-seq
MIRT2512148	hsa-miR-3689c	CLIP-seq
MIRT2512149	hsa-miR-3714	CLIP-seq
MIRT2512150	hsa-miR-377	CLIP-seq
MIRT2208370	hsa-miR-378g	CLIP-seq
MIRT2208371	hsa-miR-383	CLIP-seq
MIRT2512151	hsa-miR-3910	CLIP-seq
MIRT2512152	hsa-miR-3913-5p	CLIP-seq
MIRT2512153	hsa-miR-3922-3p	CLIP-seq
MIRT2512154	hsa-miR-3925-5p	CLIP-seq
MIRT2512155	hsa-miR-3945	CLIP-seq
MIRT2512156	hsa-miR-4251	CLIP-seq
MIRT2512157	hsa-miR-4253	CLIP-seq
MIRT2512158	hsa-miR-4260	CLIP-seq
MIRT2512159	hsa-miR-4265	CLIP-seq
MIRT2512160	hsa-miR-4270	CLIP-seq
MIRT2512161	hsa-miR-4272	CLIP-seq
MIRT2512162	hsa-miR-4275	CLIP-seq
MIRT2512163	hsa-miR-4283	CLIP-seq
MIRT2512164	hsa-miR-4286	CLIP-seq
MIRT2678947	hsa-miR-4289	CLIP-seq
MIRT2208374	hsa-miR-4292	CLIP-seq
MIRT2512165	hsa-miR-4296	CLIP-seq
MIRT2208375	hsa-miR-4306	CLIP-seq
MIRT2512166	hsa-miR-4307	CLIP-seq
MIRT2208376	hsa-miR-4308	CLIP-seq
MIRT2512167	hsa-miR-4311	CLIP-seq
MIRT2512169	hsa-miR-4319	CLIP-seq
MIRT2512170	hsa-miR-4322	CLIP-seq
MIRT2512171	hsa-miR-4324	CLIP-seq
MIRT2512172	hsa-miR-4329	CLIP-seq
MIRT2512173	hsa-miR-4417	CLIP-seq
MIRT2512174	hsa-miR-4418	CLIP-seq
MIRT2512175	hsa-miR-4422	CLIP-seq
MIRT2208377	hsa-miR-4430	CLIP-seq
MIRT920196	hsa-miR-4434	CLIP-seq
MIRT2512176	hsa-miR-4435	CLIP-seq
MIRT2512177	hsa-miR-4441	CLIP-seq
MIRT2512178	hsa-miR-4446-3p	CLIP-seq
MIRT2512179	hsa-miR-4447	CLIP-seq
MIRT2208378	hsa-miR-4457	CLIP-seq
MIRT2512180	hsa-miR-4472	CLIP-seq
MIRT2512181	hsa-miR-4477b	CLIP-seq
MIRT2512182	hsa-miR-4486	CLIP-seq
MIRT2512183	hsa-miR-4489	CLIP-seq
MIRT2512184	hsa-miR-4491	CLIP-seq
MIRT2208379	hsa-miR-4492	CLIP-seq
MIRT1972714	hsa-miR-4495	CLIP-seq
MIRT2208380	hsa-miR-4498	CLIP-seq
MIRT920197	hsa-miR-4516	CLIP-seq
MIRT2512185	hsa-miR-4520b-3p	CLIP-seq
MIRT2512186	hsa-miR-4529-3p	CLIP-seq
MIRT920198	hsa-miR-4531	CLIP-seq
MIRT2512187	hsa-miR-4532	CLIP-seq
MIRT920199	hsa-miR-4534	CLIP-seq
MIRT2512188	hsa-miR-4535	CLIP-seq
MIRT2512190	hsa-miR-4639-5p	CLIP-seq
MIRT2208382	hsa-miR-4644	CLIP-seq
MIRT2512192	hsa-miR-4649-3p	CLIP-seq
MIRT2208383	hsa-miR-4650-5p	CLIP-seq
MIRT2512193	hsa-miR-4651	CLIP-seq
MIRT2512194	hsa-miR-4653-3p	CLIP-seq
MIRT920200	hsa-miR-4654	CLIP-seq
MIRT2208384	hsa-miR-4656	CLIP-seq
MIRT2512195	hsa-miR-4657	CLIP-seq
MIRT2512196	hsa-miR-4664-5p	CLIP-seq
MIRT2208385	hsa-miR-4674	CLIP-seq
MIRT2208386	hsa-miR-4675	CLIP-seq
MIRT2512197	hsa-miR-4687-3p	CLIP-seq
MIRT2208388	hsa-miR-4690-5p	CLIP-seq
MIRT2512198	hsa-miR-4691-5p	CLIP-seq
MIRT2512199	hsa-miR-4693-3p	CLIP-seq
MIRT2512200	hsa-miR-4701-5p	CLIP-seq
MIRT2512201	hsa-miR-4723-3p	CLIP-seq
MIRT2512202	hsa-miR-4727-5p	CLIP-seq
MIRT2208390	hsa-miR-4728-5p	CLIP-seq
MIRT2512203	hsa-miR-4731-3p	CLIP-seq
MIRT2512204	hsa-miR-4732-3p	CLIP-seq
MIRT2208391	hsa-miR-4739	CLIP-seq
MIRT2208392	hsa-miR-4741	CLIP-seq
MIRT2512205	hsa-miR-4747-5p	CLIP-seq
MIRT2678948	hsa-miR-4752	CLIP-seq
MIRT2512206	hsa-miR-4755-3p	CLIP-seq
MIRT2208393	hsa-miR-4756-5p	CLIP-seq
MIRT2678949	hsa-miR-4760-3p	CLIP-seq
MIRT2678950	hsa-miR-4762-5p	CLIP-seq
MIRT2208394	hsa-miR-4768-3p	CLIP-seq
MIRT920202	hsa-miR-4769-5p	CLIP-seq
MIRT2208396	hsa-miR-4770	CLIP-seq
MIRT2208397	hsa-miR-4772-5p	CLIP-seq
MIRT2512208	hsa-miR-4773	CLIP-seq
MIRT2512209	hsa-miR-4776-5p	CLIP-seq
MIRT2512210	hsa-miR-4786-3p	CLIP-seq
MIRT2512211	hsa-miR-4791	CLIP-seq
MIRT2208398	hsa-miR-4794	CLIP-seq
MIRT2512212	hsa-miR-4796-5p	CLIP-seq
MIRT2512213	hsa-miR-4801	CLIP-seq
MIRT2512214	hsa-miR-485-3p	CLIP-seq
MIRT2512215	hsa-miR-488	CLIP-seq
MIRT2512216	hsa-miR-491-5p	CLIP-seq
MIRT2512217	hsa-miR-492	CLIP-seq
MIRT2512218	hsa-miR-494	CLIP-seq
MIRT2512219	hsa-miR-506	CLIP-seq
MIRT2512220	hsa-miR-509-3-5p	CLIP-seq
MIRT2512221	hsa-miR-509-5p	CLIP-seq
MIRT2512222	hsa-miR-513a-5p	CLIP-seq
MIRT920203	hsa-miR-516a-3p	CLIP-seq
MIRT2208400	hsa-miR-539	CLIP-seq
MIRT2512223	hsa-miR-548a-3p	CLIP-seq
MIRT2512225	hsa-miR-548c-3p	CLIP-seq
MIRT2512226	hsa-miR-548e	CLIP-seq
MIRT2512227	hsa-miR-548f	CLIP-seq
MIRT2512228	hsa-miR-550b	CLIP-seq
MIRT2678951	hsa-miR-578	CLIP-seq
MIRT2678952	hsa-miR-581	CLIP-seq
MIRT2512229	hsa-miR-583	CLIP-seq
MIRT2512230	hsa-miR-588	CLIP-seq
MIRT2512231	hsa-miR-593	CLIP-seq
MIRT2678953	hsa-miR-607	CLIP-seq
MIRT2512232	hsa-miR-608	CLIP-seq
MIRT2512233	hsa-miR-612	CLIP-seq
MIRT2512234	hsa-miR-613	CLIP-seq
MIRT2512235	hsa-miR-615-5p	CLIP-seq
MIRT2208401	hsa-miR-622	CLIP-seq
MIRT2512236	hsa-miR-627	CLIP-seq
MIRT2512237	hsa-miR-635	CLIP-seq
MIRT2678954	hsa-miR-664	CLIP-seq
MIRT2208402	hsa-miR-665	CLIP-seq
MIRT2208403	hsa-miR-670	CLIP-seq
MIRT2512238	hsa-miR-671-5p	CLIP-seq
MIRT2208405	hsa-miR-761	CLIP-seq
MIRT2208406	hsa-miR-762	CLIP-seq
MIRT2512239	hsa-miR-765	CLIP-seq
MIRT2512240	hsa-miR-889	CLIP-seq
MIRT2512241	hsa-miR-938	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
FOXD3	Activation	23058321
TP53	Unknown	15856024

Show/Hide all (34)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000340	Function	RNA 7-methylguanosine cap binding	IBA
GO:0000902	Process	Cell morphogenesis	IBA
GO:0005515	Function	Protein binding	IPI	11438699, 15048733, 17101133, 24658146
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	11438699
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006915	Process	Apoptotic process	IBA
GO:0006915	Process	Apoptotic process	IDA	10449408
GO:0006915	Process	Apoptotic process	IEA
GO:0007155	Process	Cell adhesion	IEA
GO:0007411	Process	Axon guidance	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030031	Process	Cell projection assembly	IBA
GO:0030833	Process	Regulation of actin filament polymerization	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0031209	Component	SCAR complex	IDA	17101133, 26428302
GO:0031209	Component	SCAR complex	IEA
GO:0031267	Function	Small GTPase binding	IEA
GO:0043005	Component	Neuron projection	IBA
GO:0043005	Component	Neuron projection	IEA
GO:0045202	Component	Synapse	IBA
GO:0045202	Component	Synapse	IDA	11438699
GO:0045202	Component	Synapse	IEA
GO:0045202	Component	Synapse	IEA
GO:0045862	Process	Positive regulation of proteolysis	IDA	18387192
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	10449408
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051388	Process	Positive regulation of neurotrophin TRK receptor signaling pathway	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 20458337, 23533145
GO:0097484	Process	Dendrite extension	IEA
GO:0098609	Process	Cell-cell adhesion	IDA	15048733
GO:0150052	Process	Regulation of postsynapse assembly	IDA	28692454
GO:0150052	Process	Regulation of postsynapse assembly	IMP	28692454

MIM	HGNC	e!Ensembl
606323	13760	ENSG00000055163

Q96F07

Protein name

Cytoplasmic FMR1-interacting protein 2 (p53-inducible protein 121)

Protein function

Involved in T-cell adhesion and p53/TP53-dependent induction of apoptosis. Does not bind RNA. As component of the WAVE1 complex, required for BDNF-NTRK2 endocytic trafficking and signaling from early endosomes (By similarity). {ECO:0000250|UniPr

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF07159	DUF1394	59 → 304	Protein of unknown function (DUF1394)	Family
PF05994	FragX_IP	388 → 561	Cytoplasmic Fragile-X interacting family	Family
PF05994	FragX_IP	577 → 1246	Cytoplasmic Fragile-X interacting family	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in T-cells. Increased expression is observed in CD4(+) T-lymphocytes from patients with multiple sclerosis (at protein level). {ECO:0000269|PubMed:15048733}.

Sequence

MTTHVTLEDALSNVDLLEELPLPDQQPCIEPPPSSIMYQANFDTNFEDRNAFVTGIARYI
EQATVHSSMNEMLEEGHEYAVMLYTWRSCSRAIPQVKCNEQPNRVEIYEKTVEVLEPEVT
KLMKFMYFQRKAIERFCSEVKRLCHAERRKDFVSEAYLLTLGKFINMFAVLDELKNMKCS
VKNDHSAYKRAAQFLRKMADPQSIQESQNLSMFLANHNRITQCLHQQLEVIPGYEELLAD
IVNICVDYYENKMYLTPSEKHMLLKVMGFGLYLMDGNVSNIYKLDAKKRINLSKIDKFFK
QLQVVPLFGDMQIELARYIKTSAHYEENKSKWTCTQSSISPQYNICEQMVQIRDDHIRFI
SELARYSNSEVVTGSGLDSQKSDEEYRELFDLALRGLQLLSKWSAHVMEVYSWKLVHPTD
KFCNKDCPGTAEEYERATRYNYTSEEKFAFVEVIAMIKGLQVLMGRMESVFNQAIRNTIY
AALQDFAQVTLREPLRQAVRKKKNVLISVLQAIRKTICDWEGGREPPNDPCLRGEKDPKG
GFDIKVPRRAVGPSSTQACQWSPRALFHPTGGTQGRRGCRSLLYMVRTMLESLIADKSGS
KKTLRSSLDGPIVLAIEDFHKQSFFFTHLLNISEALQQCCDLSQLWFREFFLELTMGRRI
QFPIEMSMPWILTDHILETKEPSMMEYVLYPLDLYNDSAYYALTKFKKQFLYDEIEAEVN
LCFDQFVYKLADQIFAYYKAMAGSVLLDKRFRAECKNYGVIIPYPPSNRYETLLKQRHVQ
LLGRSIDLNRLITQRISAAMYKSLDQAISRFESEDLTSIVELEWLLEINRLTHRLLCKHM
TLDSFDAMFREANHNVSAPYGRITLHVFWELNFDFLPNYCYNGSTNRFVRTAIPFTQEPQ
RDKPANVQPYYLYGSKPLNIAYSHIYSSYRNFVGPPHFKTICRLLGYQGIAVVMEELLKI
VKSLLQGTILQYVKTLIEVMPKICRLPRHEYGSPGILEFFHHQLKDIIEYAELKTDVFQS
LREVGNAILFCLLIEQALSQEEVCDLLHAAPFQNILPRVYIKEGERLEVRMKRLEAKYAP
LHLVPLIERLGTPQQIAIAREGDLLTKERLCCGLSMFEVILTRIRSYLQDPIWRGPPPTN
GVMHVDECVEFHRLWSAMQFVYCIPVGTNEFTAEQCFGDGLNWAGCSIIVLLGQQRRFDL
FDFCYHLLKVQRQDGKDEIIKNVPLKKMADRIRKYQILNNEVFAILNKYMKSVETDSSTV
EHVRCFQPPIHQSLATTC

Sequence length

1278

Interactions

View interactions

	KEGG		Reactome
	Regulation of actin cytoskeleton Pathogenic Escherichia coli infection Salmonella infection		Regulation of actin dynamics for phagocytic cup formation VEGFA-VEGFR2 Pathway RHO GTPases Activate WASPs and WAVEs FCGR3A-mediated phagocytosis

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 (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CYFIP2-related disorder	Likely pathogenic	rs1131692231	RCV003898005	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental and epileptic encephalopathy, 65	Likely pathogenic; Pathogenic	rs2113154685, rs2532396959, rs1156399205, rs1131692231, rs1554108163, rs1581069143, rs1581069148, rs1767193145, rs1761161860, rs369858004, rs1760957806, rs1760440801, rs2532288306, rs1761011834	RCV001376174 RCV003225920 RCV003387664 RCV000656389 RCV000656388 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Global developmental delay	Likely pathogenic	rs2532288306	RCV001255383	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Pathogenic	rs1760957806	RCV001261365	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Seizure	Likely pathogenic; Pathogenic	rs1131692231	RCV001174530	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (21)

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
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COMPLEX NEURODEVELOPMENTAL DISORDER	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYFIP2-related neurodevelopmental disorders	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 65	—	Disgenet, HPO Disgenet, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (69)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	22430187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	22430187	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	19910030, 19951440	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Asthma	Asthma	BEFREE	19951440		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	30664714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	30664714	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brain Diseases	Brain disease	Pubtator	30664714, 35955843, 37975178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23242139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bulimia	Bulimia	BEFREE	27914629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	32382535	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
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22374828		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	8807325		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21252116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21252116	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	37975178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26619243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	23861893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	30664714, 33149277, 35955843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyskinetic syndrome	Dyskinetic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	BEFREE	29534297, 30664714, 30687000		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epileptic encephalopathy	Epileptic encephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65	Epileptic encephalopathy	CLINVAR_DG	29534297		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65	Epileptic encephalopathy	UNIPROT_DG	29534297		★★★★★ ★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65	Epileptic encephalopathy	GENOMICS_ENGLAND_DG	29667327, 30664714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	22268788, 25432536, 30982501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypodontia	Hypodontia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	25961455	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	29667327, 30664714, 33149277, 37975178	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	BEFREE	30664714		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of breast	Breast Cancer	BEFREE	23242139		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24486301, 8943816		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21252116		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	26619243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	15048733	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30021865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrolithiasis	Nephrolithiasis	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	29534297, 30982501		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	29534297, 30664714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-specific early-onset epileptic encephalopathy	Non-Specifi Epileptic Encephalopathy	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Perisylvian syndrome	Perisylvian syndrome	Pubtator	37975178	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	23861893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	22430187		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	16948864	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Sarcoma	BEFREE	8943816		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	23861893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	30664714, 33149277, 35955843	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	30664714		★★★★★ ★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spasms Infantile	Infantile spasms	Pubtator	29667327	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	39930469	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	34558636	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
X-linked infantile spasms	Spasms X-Linked	BEFREE	30982501		★★★★★ ★☆☆☆☆ Found in Text Mining only

CYFIP2 (cytoplasmic FMR1 interacting protein 2)