FGD4 (FYVE, RhoGEF and PH domain containing 4)

Gene

• Entrez ID: 121512
• Gene name: FYVE, RhoGEF and PH domain containing 4
• Gene symbol: FGD4
• Synonyms (NCBI Gene): CMT4H, FRABP, ZFYVE6
• Chromosome: 12
• Chromosome location: 12p11.21
• Summary: This gene encodes a protein that is involved in the regulation of the actin cytoskeleton and cell shape. This protein contains an actin filament-binding domain, which together with its Dbl homology domain and one of its pleckstrin homology domains, can fo

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61753359	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic downstream transcript variant, coding sequence variant
rs63749871	T>C,G	Pathogenic, uncertain-significance	Missense variant, initiator codon variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs118203972	C>T	Pathogenic	Non coding transcript variant, stop gained, upstream transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant
rs118203973	G>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs118203974	C>T	Pathogenic	Non coding transcript variant, stop gained, intron variant, 5 prime UTR variant, coding sequence variant
rs138160928	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic downstream transcript variant, missense variant
rs201826412	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, intron variant, 5 prime UTR variant, missense variant
rs281865063	G>A	Uncertain-significance, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs281865064	G>A,H	Uncertain-significance, pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs281865065	A>G	Uncertain-significance, pathogenic	Genic downstream transcript variant, splice acceptor variant
rs751035912	AAAAG>-,AAAAGAAAAG	Uncertain-significance, pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs771529170	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs771606350	GA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant, 5 prime UTR variant
rs778377449	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs886039361	CA>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs886041200	C>A	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs1393673267	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, 5 prime UTR variant
rs1555223595	CA>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1555224772	->C	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1565869918	G>-,GG	Pathogenic, uncertain-significance	Genic upstream transcript variant, frameshift variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1565921326	AG>-	Pathogenic, uncertain-significance	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1565942358	->A	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1592294998	->T	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, intron variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs1592387932	C>-	Pathogenic	Frameshift variant, coding sequence variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT709066	hsa-miR-7153-3p	HITS-CLIP	19536157
MIRT709065	hsa-miR-490-5p	HITS-CLIP	19536157
MIRT709064	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT709063	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT709062	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT709061	hsa-miR-5096	HITS-CLIP	19536157
MIRT709060	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT709066	hsa-miR-7153-3p	HITS-CLIP	19536157
MIRT709065	hsa-miR-490-5p	HITS-CLIP	19536157
MIRT709064	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT709063	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT709062	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT709061	hsa-miR-5096	HITS-CLIP	19536157
MIRT709060	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT709066	hsa-miR-7153-3p	HITS-CLIP	19536157
MIRT709065	hsa-miR-490-5p	HITS-CLIP	19536157
MIRT709064	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT709063	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT709062	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT709061	hsa-miR-5096	HITS-CLIP	19536157
MIRT709060	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT709066	hsa-miR-7153-3p	HITS-CLIP	19536157
MIRT709065	hsa-miR-490-5p	HITS-CLIP	19536157
MIRT709064	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT709063	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT709062	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT709061	hsa-miR-5096	HITS-CLIP	19536157
MIRT709060	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT703567	hsa-miR-3617-5p	HITS-CLIP	23313552
MIRT703566	hsa-miR-641	HITS-CLIP	23313552
MIRT703565	hsa-miR-302f	HITS-CLIP	23313552
MIRT703564	hsa-miR-208a-3p	HITS-CLIP	23313552
MIRT703563	hsa-miR-208b-3p	HITS-CLIP	23313552
MIRT703562	hsa-miR-499a-5p	HITS-CLIP	23313552
MIRT703561	hsa-miR-4266	HITS-CLIP	23313552
MIRT668367	hsa-miR-10b-3p	HITS-CLIP	23824327
MIRT668366	hsa-miR-545-5p	HITS-CLIP	23824327
MIRT668365	hsa-miR-4797-3p	HITS-CLIP	23824327
MIRT668364	hsa-miR-5100	HITS-CLIP	23824327
MIRT668363	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT668362	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT668361	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT668360	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT668359	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT448839	hsa-miR-613	PAR-CLIP	22100165
MIRT448838	hsa-miR-206	PAR-CLIP	22100165
MIRT448837	hsa-miR-1-3p	PAR-CLIP	22100165
MIRT448836	hsa-miR-204-3p	PAR-CLIP	22100165
MIRT448835	hsa-miR-4646-5p	PAR-CLIP	22100165
MIRT448834	hsa-miR-3160-3p	PAR-CLIP	22100165
MIRT448833	hsa-miR-558	PAR-CLIP	22100165
MIRT272324	hsa-miR-4487	PAR-CLIP	22100165
MIRT448832	hsa-miR-6716-5p	PAR-CLIP	22100165
MIRT448831	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT448830	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT448839	hsa-miR-613	PAR-CLIP	22100165
MIRT448838	hsa-miR-206	PAR-CLIP	22100165
MIRT448837	hsa-miR-1-3p	PAR-CLIP	22100165
MIRT448836	hsa-miR-204-3p	PAR-CLIP	22100165
MIRT448835	hsa-miR-4646-5p	PAR-CLIP	22100165
MIRT448834	hsa-miR-3160-3p	PAR-CLIP	22100165
MIRT448833	hsa-miR-558	PAR-CLIP	22100165
MIRT272324	hsa-miR-4487	PAR-CLIP	22100165
MIRT448832	hsa-miR-6716-5p	PAR-CLIP	22100165
MIRT448831	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT448830	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT709066	hsa-miR-7153-3p	HITS-CLIP	19536157
MIRT709065	hsa-miR-490-5p	HITS-CLIP	19536157
MIRT709064	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT709063	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT709062	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT709061	hsa-miR-5096	HITS-CLIP	19536157
MIRT709060	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT709066	hsa-miR-7153-3p	HITS-CLIP	19536157
MIRT709065	hsa-miR-490-5p	HITS-CLIP	19536157
MIRT709064	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT709063	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT709062	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT709061	hsa-miR-5096	HITS-CLIP	19536157
MIRT709060	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT709066	hsa-miR-7153-3p	HITS-CLIP	19536157
MIRT709065	hsa-miR-490-5p	HITS-CLIP	19536157
MIRT709064	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT709063	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT709062	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT709061	hsa-miR-5096	HITS-CLIP	19536157
MIRT709060	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT709066	hsa-miR-7153-3p	HITS-CLIP	19536157
MIRT709065	hsa-miR-490-5p	HITS-CLIP	19536157
MIRT709064	hsa-miR-339-5p	HITS-CLIP	19536157
MIRT709063	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT709062	hsa-miR-197-3p	HITS-CLIP	19536157
MIRT709061	hsa-miR-5096	HITS-CLIP	19536157
MIRT709060	hsa-miR-335-3p	HITS-CLIP	19536157
MIRT703567	hsa-miR-3617-5p	HITS-CLIP	23313552
MIRT703566	hsa-miR-641	HITS-CLIP	23313552
MIRT703565	hsa-miR-302f	HITS-CLIP	23313552
MIRT703564	hsa-miR-208a-3p	HITS-CLIP	23313552
MIRT703563	hsa-miR-208b-3p	HITS-CLIP	23313552
MIRT703562	hsa-miR-499a-5p	HITS-CLIP	23313552
MIRT703561	hsa-miR-4266	HITS-CLIP	23313552
MIRT668367	hsa-miR-10b-3p	HITS-CLIP	23824327
MIRT668366	hsa-miR-545-5p	HITS-CLIP	23824327
MIRT668365	hsa-miR-4797-3p	HITS-CLIP	23824327
MIRT668364	hsa-miR-5100	HITS-CLIP	23824327
MIRT668363	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT668362	hsa-miR-3942-3p	HITS-CLIP	23824327
MIRT668361	hsa-miR-4774-3p	HITS-CLIP	23824327
MIRT668360	hsa-miR-3152-5p	HITS-CLIP	23824327
MIRT668359	hsa-miR-129-5p	HITS-CLIP	23824327
MIRT448839	hsa-miR-613	PAR-CLIP	22100165
MIRT448838	hsa-miR-206	PAR-CLIP	22100165
MIRT448837	hsa-miR-1-3p	PAR-CLIP	22100165
MIRT448836	hsa-miR-204-3p	PAR-CLIP	22100165
MIRT448835	hsa-miR-4646-5p	PAR-CLIP	22100165
MIRT448834	hsa-miR-3160-3p	PAR-CLIP	22100165
MIRT448833	hsa-miR-558	PAR-CLIP	22100165
MIRT272324	hsa-miR-4487	PAR-CLIP	22100165
MIRT448832	hsa-miR-6716-5p	PAR-CLIP	22100165
MIRT448831	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT448830	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT448839	hsa-miR-613	PAR-CLIP	22100165
MIRT448838	hsa-miR-206	PAR-CLIP	22100165
MIRT448837	hsa-miR-1-3p	PAR-CLIP	22100165
MIRT448836	hsa-miR-204-3p	PAR-CLIP	22100165
MIRT448835	hsa-miR-4646-5p	PAR-CLIP	22100165
MIRT448834	hsa-miR-3160-3p	PAR-CLIP	22100165
MIRT448833	hsa-miR-558	PAR-CLIP	22100165
MIRT272324	hsa-miR-4487	PAR-CLIP	22100165
MIRT448832	hsa-miR-6716-5p	PAR-CLIP	22100165
MIRT448831	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT448830	hsa-miR-526b-5p	PAR-CLIP	22100165
MIRT995239	hsa-miR-1	CLIP-seq
MIRT995240	hsa-miR-106a	CLIP-seq
MIRT995241	hsa-miR-106b	CLIP-seq
MIRT995242	hsa-miR-1179	CLIP-seq
MIRT995243	hsa-miR-1184	CLIP-seq
MIRT995244	hsa-miR-1205	CLIP-seq
MIRT995245	hsa-miR-1236	CLIP-seq
MIRT995246	hsa-miR-1237	CLIP-seq
MIRT995247	hsa-miR-1245	CLIP-seq
MIRT995248	hsa-miR-1298	CLIP-seq
MIRT995249	hsa-miR-1305	CLIP-seq
MIRT995250	hsa-miR-142-5p	CLIP-seq
MIRT995251	hsa-miR-17	CLIP-seq
MIRT995252	hsa-miR-186	CLIP-seq
MIRT995253	hsa-miR-188-5p	CLIP-seq
MIRT995254	hsa-miR-1913	CLIP-seq
MIRT995255	hsa-miR-1972	CLIP-seq
MIRT995256	hsa-miR-20a	CLIP-seq
MIRT995257	hsa-miR-20b	CLIP-seq
MIRT995258	hsa-miR-2116	CLIP-seq
MIRT995259	hsa-miR-218	CLIP-seq
MIRT995260	hsa-miR-219-2-3p	CLIP-seq
MIRT995261	hsa-miR-2681	CLIP-seq
MIRT995262	hsa-miR-2964a-3p	CLIP-seq
MIRT995263	hsa-miR-302a	CLIP-seq
MIRT995264	hsa-miR-302b	CLIP-seq
MIRT995265	hsa-miR-302c	CLIP-seq
MIRT995266	hsa-miR-302d	CLIP-seq
MIRT995267	hsa-miR-302e	CLIP-seq
MIRT995268	hsa-miR-3130-3p	CLIP-seq
MIRT995269	hsa-miR-3145-3p	CLIP-seq
MIRT995270	hsa-miR-3154	CLIP-seq
MIRT995271	hsa-miR-3158-5p	CLIP-seq
MIRT995272	hsa-miR-3187-3p	CLIP-seq
MIRT995273	hsa-miR-320a	CLIP-seq
MIRT995274	hsa-miR-320b	CLIP-seq
MIRT995275	hsa-miR-320c	CLIP-seq
MIRT995276	hsa-miR-320d	CLIP-seq
MIRT995277	hsa-miR-324-3p	CLIP-seq
MIRT995278	hsa-miR-3607-5p	CLIP-seq
MIRT995279	hsa-miR-3609	CLIP-seq
MIRT995280	hsa-miR-3613-3p	CLIP-seq
MIRT995281	hsa-miR-361-3p	CLIP-seq
MIRT995282	hsa-miR-3616-5p	CLIP-seq
MIRT995283	hsa-miR-3647-5p	CLIP-seq
MIRT995284	hsa-miR-3652	CLIP-seq
MIRT995285	hsa-miR-3653	CLIP-seq
MIRT995286	hsa-miR-3658	CLIP-seq
MIRT995287	hsa-miR-3661	CLIP-seq
MIRT995288	hsa-miR-3662	CLIP-seq
MIRT995289	hsa-miR-3663-5p	CLIP-seq
MIRT995290	hsa-miR-3674	CLIP-seq
MIRT995291	hsa-miR-3684	CLIP-seq
MIRT995292	hsa-miR-3688-3p	CLIP-seq
MIRT995293	hsa-miR-3690	CLIP-seq
MIRT995294	hsa-miR-371-5p	CLIP-seq
MIRT995295	hsa-miR-372	CLIP-seq
MIRT995296	hsa-miR-373	CLIP-seq
MIRT995297	hsa-miR-3910	CLIP-seq
MIRT995298	hsa-miR-3924	CLIP-seq
MIRT995299	hsa-miR-3974	CLIP-seq
MIRT995300	hsa-miR-3978	CLIP-seq
MIRT995301	hsa-miR-421	CLIP-seq
MIRT995302	hsa-miR-4251	CLIP-seq
MIRT995303	hsa-miR-4254	CLIP-seq
MIRT995304	hsa-miR-4263	CLIP-seq
MIRT995305	hsa-miR-4274	CLIP-seq
MIRT995306	hsa-miR-431	CLIP-seq
MIRT995307	hsa-miR-4311	CLIP-seq
MIRT995308	hsa-miR-4429	CLIP-seq
MIRT995309	hsa-miR-4430	CLIP-seq
MIRT995310	hsa-miR-4435	CLIP-seq
MIRT995311	hsa-miR-4438	CLIP-seq
MIRT995312	hsa-miR-4452	CLIP-seq
MIRT995313	hsa-miR-4505	CLIP-seq
MIRT995314	hsa-miR-4509	CLIP-seq
MIRT995315	hsa-miR-4659a-5p	CLIP-seq
MIRT995316	hsa-miR-4659b-5p	CLIP-seq
MIRT995317	hsa-miR-4662a-3p	CLIP-seq
MIRT995318	hsa-miR-4666-5p	CLIP-seq
MIRT995319	hsa-miR-4668-3p	CLIP-seq
MIRT995320	hsa-miR-4677-5p	CLIP-seq
MIRT995321	hsa-miR-4694-3p	CLIP-seq
MIRT995322	hsa-miR-4701-5p	CLIP-seq
MIRT995323	hsa-miR-4709-5p	CLIP-seq
MIRT995324	hsa-miR-4716-5p	CLIP-seq
MIRT995325	hsa-miR-4720-3p	CLIP-seq
MIRT995326	hsa-miR-4724-3p	CLIP-seq
MIRT995327	hsa-miR-4732-5p	CLIP-seq
MIRT995328	hsa-miR-4744	CLIP-seq
MIRT995329	hsa-miR-4753-3p	CLIP-seq
MIRT995330	hsa-miR-4755-3p	CLIP-seq
MIRT995331	hsa-miR-4776-3p	CLIP-seq
MIRT995332	hsa-miR-4781-3p	CLIP-seq
MIRT995333	hsa-miR-4793-3p	CLIP-seq
MIRT995334	hsa-miR-4795-5p	CLIP-seq
MIRT995335	hsa-miR-4796-3p	CLIP-seq
MIRT995336	hsa-miR-4799-5p	CLIP-seq
MIRT995337	hsa-miR-4803	CLIP-seq
MIRT995338	hsa-miR-4804-3p	CLIP-seq
MIRT995339	hsa-miR-485-3p	CLIP-seq
MIRT995340	hsa-miR-487a	CLIP-seq
MIRT995341	hsa-miR-5095	CLIP-seq
MIRT995342	hsa-miR-518a-5p	CLIP-seq
MIRT995343	hsa-miR-519d	CLIP-seq
MIRT995344	hsa-miR-520a-3p	CLIP-seq
MIRT995345	hsa-miR-520b	CLIP-seq
MIRT995346	hsa-miR-520c-3p	CLIP-seq
MIRT995347	hsa-miR-520d-3p	CLIP-seq
MIRT995348	hsa-miR-520e	CLIP-seq
MIRT995349	hsa-miR-522	CLIP-seq
MIRT995350	hsa-miR-526b	CLIP-seq
MIRT995351	hsa-miR-527	CLIP-seq
MIRT995352	hsa-miR-544	CLIP-seq
MIRT995353	hsa-miR-548a-5p	CLIP-seq
MIRT995354	hsa-miR-548ab	CLIP-seq
MIRT995355	hsa-miR-548ac	CLIP-seq
MIRT995356	hsa-miR-548ah	CLIP-seq
MIRT995357	hsa-miR-548ak	CLIP-seq
MIRT995358	hsa-miR-548b-5p	CLIP-seq
MIRT995359	hsa-miR-548c-3p	CLIP-seq
MIRT995360	hsa-miR-548c-5p	CLIP-seq
MIRT995361	hsa-miR-548d-3p	CLIP-seq
MIRT995362	hsa-miR-548d-5p	CLIP-seq
MIRT995363	hsa-miR-548h	CLIP-seq
MIRT995364	hsa-miR-548i	CLIP-seq
MIRT995365	hsa-miR-548j	CLIP-seq
MIRT995366	hsa-miR-548k	CLIP-seq
MIRT995367	hsa-miR-548l	CLIP-seq
MIRT995368	hsa-miR-548n	CLIP-seq
MIRT995369	hsa-miR-548s	CLIP-seq
MIRT995370	hsa-miR-548t	CLIP-seq
MIRT995371	hsa-miR-548w	CLIP-seq
MIRT995372	hsa-miR-548y	CLIP-seq
MIRT995373	hsa-miR-548z	CLIP-seq
MIRT995374	hsa-miR-559	CLIP-seq
MIRT995375	hsa-miR-563	CLIP-seq
MIRT995376	hsa-miR-573	CLIP-seq
MIRT995377	hsa-miR-576-3p	CLIP-seq
MIRT995378	hsa-miR-576-5p	CLIP-seq
MIRT995379	hsa-miR-578	CLIP-seq
MIRT995380	hsa-miR-579	CLIP-seq
MIRT995381	hsa-miR-580	CLIP-seq
MIRT995382	hsa-miR-582-5p	CLIP-seq
MIRT995383	hsa-miR-588	CLIP-seq
MIRT995384	hsa-miR-617	CLIP-seq
MIRT995385	hsa-miR-621	CLIP-seq
MIRT995386	hsa-miR-631	CLIP-seq
MIRT995387	hsa-miR-636	CLIP-seq
MIRT995388	hsa-miR-765	CLIP-seq
MIRT995389	hsa-miR-802	CLIP-seq
MIRT995390	hsa-miR-93	CLIP-seq
MIRT995391	hsa-miR-942	CLIP-seq
MIRT1995115	hsa-miR-1234	CLIP-seq
MIRT1995116	hsa-miR-1301	CLIP-seq
MIRT995249	hsa-miR-1305	CLIP-seq
MIRT1995117	hsa-miR-150	CLIP-seq
MIRT995252	hsa-miR-186	CLIP-seq
MIRT995254	hsa-miR-1913	CLIP-seq
MIRT1995118	hsa-miR-1976	CLIP-seq
MIRT1995119	hsa-miR-198	CLIP-seq
MIRT1995120	hsa-miR-3117-5p	CLIP-seq
MIRT1995121	hsa-miR-3120-5p	CLIP-seq
MIRT995270	hsa-miR-3154	CLIP-seq
MIRT1995122	hsa-miR-3163	CLIP-seq
MIRT995272	hsa-miR-3187-3p	CLIP-seq
MIRT995277	hsa-miR-324-3p	CLIP-seq
MIRT1995123	hsa-miR-340	CLIP-seq
MIRT1995124	hsa-miR-3607-3p	CLIP-seq
MIRT995280	hsa-miR-3613-3p	CLIP-seq
MIRT995285	hsa-miR-3653	CLIP-seq
MIRT995289	hsa-miR-3663-5p	CLIP-seq
MIRT995290	hsa-miR-3674	CLIP-seq
MIRT1995125	hsa-miR-377	CLIP-seq
MIRT1995126	hsa-miR-380	CLIP-seq
MIRT995297	hsa-miR-3910	CLIP-seq
MIRT1995127	hsa-miR-4279	CLIP-seq
MIRT1995128	hsa-miR-4282	CLIP-seq
MIRT1995129	hsa-miR-4291	CLIP-seq
MIRT1995130	hsa-miR-4310	CLIP-seq
MIRT995310	hsa-miR-4435	CLIP-seq
MIRT995311	hsa-miR-4438	CLIP-seq
MIRT1995131	hsa-miR-4446-3p	CLIP-seq
MIRT1995132	hsa-miR-4492	CLIP-seq
MIRT1995133	hsa-miR-4498	CLIP-seq
MIRT995313	hsa-miR-4505	CLIP-seq
MIRT1995134	hsa-miR-4532	CLIP-seq
MIRT1995135	hsa-miR-4659a-3p	CLIP-seq
MIRT995315	hsa-miR-4659a-5p	CLIP-seq
MIRT1995136	hsa-miR-4659b-3p	CLIP-seq
MIRT995316	hsa-miR-4659b-5p	CLIP-seq
MIRT1995137	hsa-miR-4660	CLIP-seq
MIRT1995138	hsa-miR-4679	CLIP-seq
MIRT995322	hsa-miR-4701-5p	CLIP-seq
MIRT1995139	hsa-miR-4714-3p	CLIP-seq
MIRT1995140	hsa-miR-4714-5p	CLIP-seq
MIRT995324	hsa-miR-4716-5p	CLIP-seq
MIRT1995141	hsa-miR-4719	CLIP-seq
MIRT1995142	hsa-miR-4722-3p	CLIP-seq
MIRT1995143	hsa-miR-4729	CLIP-seq
MIRT995327	hsa-miR-4732-5p	CLIP-seq
MIRT1995144	hsa-miR-4740-3p	CLIP-seq
MIRT995329	hsa-miR-4753-3p	CLIP-seq
MIRT995330	hsa-miR-4755-3p	CLIP-seq
MIRT1995145	hsa-miR-4772-3p	CLIP-seq
MIRT1995146	hsa-miR-4775	CLIP-seq
MIRT995331	hsa-miR-4776-3p	CLIP-seq
MIRT995332	hsa-miR-4781-3p	CLIP-seq
MIRT995335	hsa-miR-4796-3p	CLIP-seq
MIRT1995147	hsa-miR-491-3p	CLIP-seq
MIRT1995148	hsa-miR-496	CLIP-seq
MIRT1995149	hsa-miR-498	CLIP-seq
MIRT1995150	hsa-miR-5047	CLIP-seq
MIRT995341	hsa-miR-5095	CLIP-seq
MIRT1995151	hsa-miR-520d-5p	CLIP-seq
MIRT995349	hsa-miR-522	CLIP-seq
MIRT1995152	hsa-miR-524-5p	CLIP-seq
MIRT995350	hsa-miR-526b	CLIP-seq
MIRT1995153	hsa-miR-545	CLIP-seq
MIRT1995154	hsa-miR-548aa	CLIP-seq
MIRT995355	hsa-miR-548ac	CLIP-seq
MIRT995359	hsa-miR-548c-3p	CLIP-seq
MIRT995361	hsa-miR-548d-3p	CLIP-seq
MIRT1995155	hsa-miR-548p	CLIP-seq
MIRT995369	hsa-miR-548s	CLIP-seq
MIRT995370	hsa-miR-548t	CLIP-seq
MIRT995373	hsa-miR-548z	CLIP-seq
MIRT1995156	hsa-miR-556-3p	CLIP-seq
MIRT995378	hsa-miR-576-5p	CLIP-seq
MIRT995379	hsa-miR-578	CLIP-seq
MIRT995383	hsa-miR-588	CLIP-seq
MIRT1995157	hsa-miR-590-3p	CLIP-seq
MIRT1995158	hsa-miR-668	CLIP-seq
MIRT1995159	hsa-miR-762	CLIP-seq
MIRT995239	hsa-miR-1	CLIP-seq
MIRT995240	hsa-miR-106a	CLIP-seq
MIRT995241	hsa-miR-106b	CLIP-seq
MIRT2229203	hsa-miR-1178	CLIP-seq
MIRT1995115	hsa-miR-1234	CLIP-seq
MIRT2229204	hsa-miR-125a-3p	CLIP-seq
MIRT995249	hsa-miR-1305	CLIP-seq
MIRT2229205	hsa-miR-1323	CLIP-seq
MIRT2229206	hsa-miR-138	CLIP-seq
MIRT995250	hsa-miR-142-5p	CLIP-seq
MIRT2229207	hsa-miR-145	CLIP-seq
MIRT1995117	hsa-miR-150	CLIP-seq
MIRT995251	hsa-miR-17	CLIP-seq
MIRT2229208	hsa-miR-181a	CLIP-seq
MIRT2229209	hsa-miR-181b	CLIP-seq
MIRT2229210	hsa-miR-181c	CLIP-seq
MIRT2229211	hsa-miR-181d	CLIP-seq
MIRT2229212	hsa-miR-197	CLIP-seq
MIRT1995118	hsa-miR-1976	CLIP-seq
MIRT995256	hsa-miR-20a	CLIP-seq
MIRT995257	hsa-miR-20b	CLIP-seq
MIRT2229213	hsa-miR-224	CLIP-seq
MIRT2229214	hsa-miR-23a	CLIP-seq
MIRT2229215	hsa-miR-23b	CLIP-seq
MIRT2229216	hsa-miR-23c	CLIP-seq
MIRT2229217	hsa-miR-2861	CLIP-seq
MIRT995263	hsa-miR-302a	CLIP-seq
MIRT995264	hsa-miR-302b	CLIP-seq
MIRT995265	hsa-miR-302c	CLIP-seq
MIRT995266	hsa-miR-302d	CLIP-seq
MIRT995267	hsa-miR-302e	CLIP-seq
MIRT1995120	hsa-miR-3117-5p	CLIP-seq
MIRT1995121	hsa-miR-3120-5p	CLIP-seq
MIRT2229218	hsa-miR-3168	CLIP-seq
MIRT2229219	hsa-miR-3185	CLIP-seq
MIRT995272	hsa-miR-3187-3p	CLIP-seq
MIRT2229220	hsa-miR-3194-3p	CLIP-seq
MIRT2229221	hsa-miR-323-3p	CLIP-seq
MIRT2229222	hsa-miR-323b-3p	CLIP-seq
MIRT2229223	hsa-miR-3606	CLIP-seq
MIRT1995124	hsa-miR-3607-3p	CLIP-seq
MIRT995279	hsa-miR-3609	CLIP-seq
MIRT995280	hsa-miR-3613-3p	CLIP-seq
MIRT2229224	hsa-miR-3646	CLIP-seq
MIRT995284	hsa-miR-3652	CLIP-seq
MIRT995285	hsa-miR-3653	CLIP-seq
MIRT995286	hsa-miR-3658	CLIP-seq
MIRT995288	hsa-miR-3662	CLIP-seq
MIRT995289	hsa-miR-3663-5p	CLIP-seq
MIRT995290	hsa-miR-3674	CLIP-seq
MIRT2229225	hsa-miR-3686	CLIP-seq
MIRT2229226	hsa-miR-371b-5p	CLIP-seq
MIRT995295	hsa-miR-372	CLIP-seq
MIRT995296	hsa-miR-373	CLIP-seq
MIRT2229227	hsa-miR-3925-3p	CLIP-seq
MIRT2229228	hsa-miR-3934	CLIP-seq
MIRT2229229	hsa-miR-3935	CLIP-seq
MIRT995299	hsa-miR-3974	CLIP-seq
MIRT995300	hsa-miR-3978	CLIP-seq
MIRT995301	hsa-miR-421	CLIP-seq
MIRT2229230	hsa-miR-4262	CLIP-seq
MIRT1995127	hsa-miR-4279	CLIP-seq
MIRT1995129	hsa-miR-4291	CLIP-seq
MIRT995306	hsa-miR-431	CLIP-seq
MIRT2229231	hsa-miR-4328	CLIP-seq
MIRT995309	hsa-miR-4430	CLIP-seq
MIRT995310	hsa-miR-4435	CLIP-seq
MIRT995311	hsa-miR-4438	CLIP-seq
MIRT2229232	hsa-miR-4463	CLIP-seq
MIRT2229233	hsa-miR-4494	CLIP-seq
MIRT995313	hsa-miR-4505	CLIP-seq
MIRT1995134	hsa-miR-4532	CLIP-seq
MIRT2229234	hsa-miR-4540	CLIP-seq
MIRT2229235	hsa-miR-455-5p	CLIP-seq
MIRT1995135	hsa-miR-4659a-3p	CLIP-seq
MIRT995315	hsa-miR-4659a-5p	CLIP-seq
MIRT1995136	hsa-miR-4659b-3p	CLIP-seq
MIRT995316	hsa-miR-4659b-5p	CLIP-seq
MIRT1995138	hsa-miR-4679	CLIP-seq
MIRT2229236	hsa-miR-4694-5p	CLIP-seq
MIRT2229237	hsa-miR-4698	CLIP-seq
MIRT2229238	hsa-miR-4699-5p	CLIP-seq
MIRT995322	hsa-miR-4701-5p	CLIP-seq
MIRT995323	hsa-miR-4709-5p	CLIP-seq
MIRT995324	hsa-miR-4716-5p	CLIP-seq
MIRT1995141	hsa-miR-4719	CLIP-seq
MIRT1995142	hsa-miR-4722-3p	CLIP-seq
MIRT1995143	hsa-miR-4729	CLIP-seq
MIRT2229239	hsa-miR-4731-3p	CLIP-seq
MIRT995327	hsa-miR-4732-5p	CLIP-seq
MIRT1995144	hsa-miR-4740-3p	CLIP-seq
MIRT2229240	hsa-miR-4743	CLIP-seq
MIRT995329	hsa-miR-4753-3p	CLIP-seq
MIRT995330	hsa-miR-4755-3p	CLIP-seq
MIRT2229241	hsa-miR-4771	CLIP-seq
MIRT1995145	hsa-miR-4772-3p	CLIP-seq
MIRT2229242	hsa-miR-4773	CLIP-seq
MIRT1995146	hsa-miR-4775	CLIP-seq
MIRT995331	hsa-miR-4776-3p	CLIP-seq
MIRT995332	hsa-miR-4781-3p	CLIP-seq
MIRT995335	hsa-miR-4796-3p	CLIP-seq
MIRT2229243	hsa-miR-4801	CLIP-seq
MIRT995337	hsa-miR-4803	CLIP-seq
MIRT1995149	hsa-miR-498	CLIP-seq
MIRT995341	hsa-miR-5095	CLIP-seq
MIRT995343	hsa-miR-519d	CLIP-seq
MIRT995344	hsa-miR-520a-3p	CLIP-seq
MIRT995345	hsa-miR-520b	CLIP-seq
MIRT995346	hsa-miR-520c-3p	CLIP-seq
MIRT995347	hsa-miR-520d-3p	CLIP-seq
MIRT1995151	hsa-miR-520d-5p	CLIP-seq
MIRT995348	hsa-miR-520e	CLIP-seq
MIRT995349	hsa-miR-522	CLIP-seq
MIRT1995152	hsa-miR-524-5p	CLIP-seq
MIRT995350	hsa-miR-526b	CLIP-seq
MIRT1995153	hsa-miR-545	CLIP-seq
MIRT1995154	hsa-miR-548aa	CLIP-seq
MIRT995356	hsa-miR-548ah	CLIP-seq
MIRT2229244	hsa-miR-548o	CLIP-seq
MIRT1995155	hsa-miR-548p	CLIP-seq
MIRT995369	hsa-miR-548s	CLIP-seq
MIRT995370	hsa-miR-548t	CLIP-seq
MIRT2229245	hsa-miR-555	CLIP-seq
MIRT1995156	hsa-miR-556-3p	CLIP-seq
MIRT995377	hsa-miR-576-3p	CLIP-seq
MIRT995379	hsa-miR-578	CLIP-seq
MIRT2229246	hsa-miR-586	CLIP-seq
MIRT995383	hsa-miR-588	CLIP-seq
MIRT1995157	hsa-miR-590-3p	CLIP-seq
MIRT2229247	hsa-miR-607	CLIP-seq
MIRT995385	hsa-miR-621	CLIP-seq
MIRT1995158	hsa-miR-668	CLIP-seq
MIRT2229248	hsa-miR-764	CLIP-seq
MIRT995390	hsa-miR-93	CLIP-seq
MIRT2387978	hsa-miR-1227	CLIP-seq
MIRT995285	hsa-miR-3653	CLIP-seq
MIRT995311	hsa-miR-4438	CLIP-seq
MIRT2229235	hsa-miR-455-5p	CLIP-seq
MIRT2387979	hsa-miR-4715-3p	CLIP-seq
MIRT1995144	hsa-miR-4740-3p	CLIP-seq
MIRT2229240	hsa-miR-4743	CLIP-seq
MIRT1995149	hsa-miR-498	CLIP-seq
MIRT995341	hsa-miR-5095	CLIP-seq
MIRT995259	hsa-miR-218	CLIP-seq
MIRT2428895	hsa-miR-3140-3p	CLIP-seq
MIRT2428896	hsa-miR-4668-5p	CLIP-seq
MIRT2229237	hsa-miR-4698	CLIP-seq
MIRT2428897	hsa-miR-570	CLIP-seq
MIRT995387	hsa-miR-636	CLIP-seq
MIRT995259	hsa-miR-218	CLIP-seq
MIRT2428895	hsa-miR-3140-3p	CLIP-seq
MIRT2428896	hsa-miR-4668-5p	CLIP-seq
MIRT2229237	hsa-miR-4698	CLIP-seq
MIRT2428897	hsa-miR-570	CLIP-seq
MIRT995387	hsa-miR-636	CLIP-seq
MIRT2229237	hsa-miR-4698	CLIP-seq
MIRT2387978	hsa-miR-1227	CLIP-seq
MIRT2532806	hsa-miR-1228	CLIP-seq
MIRT2532807	hsa-miR-1307	CLIP-seq
MIRT1995118	hsa-miR-1976	CLIP-seq
MIRT1995121	hsa-miR-3120-5p	CLIP-seq
MIRT2532808	hsa-miR-338-5p	CLIP-seq
MIRT995285	hsa-miR-3653	CLIP-seq
MIRT995286	hsa-miR-3658	CLIP-seq
MIRT995290	hsa-miR-3674	CLIP-seq
MIRT1995127	hsa-miR-4279	CLIP-seq
MIRT2532809	hsa-miR-4284	CLIP-seq
MIRT2532810	hsa-miR-4330	CLIP-seq
MIRT995311	hsa-miR-4438	CLIP-seq
MIRT2532811	hsa-miR-4511	CLIP-seq
MIRT1995134	hsa-miR-4532	CLIP-seq
MIRT2229235	hsa-miR-455-5p	CLIP-seq
MIRT2532812	hsa-miR-4638-5p	CLIP-seq
MIRT1995139	hsa-miR-4714-3p	CLIP-seq
MIRT2387979	hsa-miR-4715-3p	CLIP-seq
MIRT1995142	hsa-miR-4722-3p	CLIP-seq
MIRT2532813	hsa-miR-4735-5p	CLIP-seq
MIRT1995144	hsa-miR-4740-3p	CLIP-seq
MIRT2229240	hsa-miR-4743	CLIP-seq
MIRT1995146	hsa-miR-4775	CLIP-seq
MIRT2532814	hsa-miR-4794	CLIP-seq
MIRT1995149	hsa-miR-498	CLIP-seq
MIRT995341	hsa-miR-5095	CLIP-seq
MIRT2532815	hsa-miR-548b-3p	CLIP-seq
MIRT1995157	hsa-miR-590-3p	CLIP-seq
MIRT2387978	hsa-miR-1227	CLIP-seq
MIRT2532806	hsa-miR-1228	CLIP-seq
MIRT2532807	hsa-miR-1307	CLIP-seq
MIRT1995118	hsa-miR-1976	CLIP-seq
MIRT1995121	hsa-miR-3120-5p	CLIP-seq
MIRT1995127	hsa-miR-4279	CLIP-seq
MIRT2532809	hsa-miR-4284	CLIP-seq
MIRT995311	hsa-miR-4438	CLIP-seq
MIRT1995134	hsa-miR-4532	CLIP-seq
MIRT2229235	hsa-miR-455-5p	CLIP-seq
MIRT2532812	hsa-miR-4638-5p	CLIP-seq
MIRT2229237	hsa-miR-4698	CLIP-seq
MIRT1995139	hsa-miR-4714-3p	CLIP-seq
MIRT2387979	hsa-miR-4715-3p	CLIP-seq
MIRT1995142	hsa-miR-4722-3p	CLIP-seq
MIRT2532813	hsa-miR-4735-5p	CLIP-seq
MIRT1995144	hsa-miR-4740-3p	CLIP-seq
MIRT2229240	hsa-miR-4743	CLIP-seq
MIRT1995146	hsa-miR-4775	CLIP-seq
MIRT2532814	hsa-miR-4794	CLIP-seq
MIRT1995149	hsa-miR-498	CLIP-seq
MIRT995341	hsa-miR-5095	CLIP-seq
MIRT1995157	hsa-miR-590-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001726	Component	Ruffle	ISS
GO:0003779	Function	Actin binding	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IBA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	IEA
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	ISS
GO:0005085	Function	Guanyl-nucleotide exchange factor activity	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005794	Component	Golgi apparatus	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0007010	Process	Cytoskeleton organization	IBA
GO:0007010	Process	Cytoskeleton organization	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0008360	Process	Regulation of cell shape	ISS
GO:0030027	Component	Lamellipodium	ISS
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030175	Component	Filopodium	IEA
GO:0031267	Function	Small GTPase binding	ISS
GO:0042995	Component	Cell projection	IEA
GO:0043087	Process	Regulation of GTPase activity	ISS
GO:0046847	Process	Filopodium assembly	IBA
GO:0046847	Process	Filopodium assembly	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	IEA
GO:0051056	Process	Regulation of small GTPase mediated signal transduction	TAS

Other IDs

• MIM: 611104
• HGNC: 19125
• e!Ensembl: ENSG00000139132

Protein

• UniProt ID: Q96M96
• Protein name: FYVE, RhoGEF and PH domain-containing protein 4 (Actin filament-binding protein frabin) (FGD1-related F-actin-binding protein) (Zinc finger FYVE domain-containing protein 6)
• Protein function: Activates CDC42, a member of the Ras-like family of Rho- and Rac proteins, by exchanging bound GDP for free GTP. Plays a role in regulating the actin cytoskeleton and cell shape. Activates MAPK8 (By similarity). {ECO:0000250, ECO:0000269|PubMed:
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00621	RhoGEF	210 → 391	RhoGEF domain	Domain
  PF00169	PH	423 → 521	PH domain	Domain
  PF01363	FYVE	554 → 620	FYVE zinc finger	Domain
  PF00169	PH	627 → 740	PH domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in different tissues, including brain, cerebellum, peripheral nerve, skeletal muscle, heart, uterus, placenta and testis. {ECO:0000269|PubMed:17564959}.
• Sequence:

  MEEIKPASASCVSKEKPSKVSDLISRFEGGSSLSNYSDLKKESAVNLNAPRTPGRHGLTT
  TPQQKLLSQHLPQRQGNDTDKTQGAQTCVANGVMAAQNQMECEEEKAATLSSDTSIQASE
  PLLDTHIVNGERDETATAPASPTTDSCDGNASDSSYRTPGIGPVLPLEERGAETETKVQE
  RENGESPLELEQLDQHHEMKETNEQKLHKIANELLLTERAYVNRLDLLDQVFYCKLLEEA
  NRGSFPAEMVNKIFSNISSINAFHSKFLLPELEKRMQEWETTPRIGDILQKLAPFLKMYG
  EYVKGFDNAMELVKNMTERIPQFKSVVEEIQKQKICGSLTLQHHMLEPVQRIPRYEMLLK
  DYLRKLPPDSLDWNDAKKSLEIISTAASHSNSAIRKMENLKKLLEIYEMLGEEEDIVNPS
  NELIKEGQILKLAARNTSAQERYLFLFNNMLLYCVPKFSLVGSKFTVRTRVGIDGMKIVE
  TQNEEYPHTFQVSGKERTLELQASSAQDKEEWIKALQETIDAFHQRHETFRNAIAKDNDI
  HSEVSTAELGKRAPRWIRDNEVTMCMKCKEPFNALTRRRHHCRACGYVVCWKCSDYKAQL
  EYDGGKLSKVCKDCYQIISGFTDSEEKKRKGILEIESAEVSGNSVVCSFLQYMEKSKPWQ
  KAWCVIPKQDPLVLYMYGAPQDVRAQATIPLLGYVVDEMPRSADLPHSFKLTQSKSVHSF
  AADSEELKQKWLKVILLAVTGETPGGPNEHPATLDDHPEPKKKSEC

• Sequence length: 766

Pathways

Reactome:

NRAGE signals death through JNK
Rho GTPase cycle
G alpha (12/13) signalling events

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Charcot-Marie-Tooth disease	Pathogenic	rs751035912, rs63749871	RCV000789112 RCV000789104	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4	Pathogenic; Likely pathogenic	rs2136432373, rs751404531, rs1401878479, rs2136608035, rs2137076976, rs1951100155, rs2136763097, rs1948478259, rs1948408994, rs899737461, rs2136932206, rs118203972, rs118203974, rs1949691247, rs1060501904, rs2540869203, rs2540549360, rs886039361, rs2540687833, rs1240797253, rs778377449, rs751035912, rs63749871, rs1555223595, rs1393673267, rs1592387932, rs201676628, rs1948089932, rs1950619177	RCV001389272 RCV001385811 RCV001389522 RCV005057496 RCV001939418 RCV001960633 RCV001994195 RCV002011371 RCV001956214 RCV001897003 RCV001985156 RCV001851524 RCV001248027 RCV003095588 RCV002815496 RCV002815959 RCV003028617 RCV005090295 RCV003744299 RCV003744269 RCV000465770 RCV000474290 RCV001047299 RCV003581683 RCV000695680 RCV000654164 RCV000691156 RCV000807063 RCV001037627 RCV001062320 RCV001052182	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4H	Pathogenic; Likely pathogenic	rs2136608035, rs2136932206, rs118203972, rs118203974, rs2540702114, rs886041200, rs751035912, rs771606350, rs63749871, rs1565869918, rs1565942358	RCV001542680 RCV005397189 RCV000001066 RCV000001071 RCV002569459 RCV003988839 RCV003447139 RCV002289701 RCV000032001 RCV000782173 RCV000782174	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL ATHEROSCLEROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4H	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FGD4-related disorder	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; -; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	30558664		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27736846		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	23380069, 27736846	Associate	★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	17564959, 17564972, 22734899, 23550889		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	CLINVAR_DG	17564959, 17564972		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4	Charcot-Marie-Tooth Disease	BEFREE	22734899		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease type 4H	Charcot-Marie-Tooth Disease	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	15744041, 17564959		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H	Charcot-Marie-Tooth Disease	UNIPROT_DG	17564959, 17564972		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H	Charcot-Marie-Tooth Disease	BEFREE	19332693, 23550889, 23770104, 26400421, 28847448, 31152969		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4H	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pes cavus	Congenital Pes Cavus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	33709789	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	30558664		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	30558664	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	30487518		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27736846		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30558664		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	28130497		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	22589722		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	22589722	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	31688594		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	19221294	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	17564972, 23770104		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31688594	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	19221294, 31152969		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	22843789, 27736846	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	27736846, 31152969		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	27736846		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polyneuropathy	Polyneuropathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30558664		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30558664	Stimulate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	22843789		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	22430805	Associate	★☆☆☆☆ Found in Text Mining only
Tooth Diseases	Tooth Diseases	LHGDN	19221294		★☆☆☆☆ Found in Text Mining only