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

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	1729
Gene name	Diaphanous related formin 1
Gene symbol	DIAPH1
Synonyms (NCBI Gene)	DFNA1DIA1DRF1LFHL1SCBMShDIA1mDia1
Chromosome	5
Chromosome location	5q31.3
Summary	This gene is a homolog of the Drosophila diaphanous gene, and has been linked to autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive low-frequency hearing loss. Actin polymerization involves proteins known to interact with diaphano

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SNP ID	Visualize variation	Clinical significance	Consequence
rs182139018	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs189809247	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs193036129	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Missense variant, coding sequence variant
rs200606811	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs367786290	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs369494682	G>A,T	Likely-benign, likely-pathogenic, uncertain-significance	Coding sequence variant, synonymous variant, stop gained
rs730882242	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs863225242	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs863225243	G>A	Pathogenic	Coding sequence variant, stop gained
rs876657776	G>A	Pathogenic	Coding sequence variant, stop gained
rs1057524293	G>A	Pathogenic	Stop gained, coding sequence variant
rs1064794044	GC>A	Pathogenic	Coding sequence variant, frameshift variant
rs1064797096	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1235751512	->T	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1476157529	C>A,T	Pathogenic	Splice donor variant
rs1554201397	->TT	Pathogenic	Coding sequence variant, frameshift variant
rs1596335566	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596339533	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1596421912	->A	Likely-pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant

395

Show/Hide all (395)

miRTarBase ID	miRNA	Experiments	Reference
MIRT032344	hsa-let-7b-5p	Proteomics	18668040
MIRT032344	hsa-let-7b-5p	CLASH	23622248
MIRT051524	hsa-let-7e-5p	CLASH	23622248
MIRT050684	hsa-miR-18a-5p	CLASH	23622248
MIRT049688	hsa-miR-92a-3p	CLASH	23622248
MIRT049688	hsa-miR-92a-3p	CLASH	23622248
MIRT049688	hsa-miR-92a-3p	CLASH	23622248
MIRT046300	hsa-miR-23b-3p	CLASH	23622248
MIRT046300	hsa-miR-23b-3p	CLASH	23622248
MIRT046188	hsa-miR-27b-3p	CLASH	23622248
MIRT045342	hsa-miR-185-5p	CLASH	23622248
MIRT044627	hsa-miR-320a	CLASH	23622248
MIRT043807	hsa-miR-328-3p	CLASH	23622248
MIRT039957	hsa-miR-615-3p	CLASH	23622248
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624144	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT624143	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT624142	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT659003	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT659002	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT659001	hsa-miR-4459	HITS-CLIP	23824327
MIRT659000	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT658999	hsa-miR-2467-5p	HITS-CLIP	23824327
MIRT658998	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT658997	hsa-miR-3674	HITS-CLIP	23824327
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624144	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT624143	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT624142	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624144	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT624143	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT624142	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT659003	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT659002	hsa-miR-4695-5p	HITS-CLIP	23824327
MIRT659001	hsa-miR-4459	HITS-CLIP	23824327
MIRT659000	hsa-miR-2116-3p	HITS-CLIP	23824327
MIRT658999	hsa-miR-2467-5p	HITS-CLIP	23824327
MIRT658998	hsa-miR-502-5p	HITS-CLIP	23824327
MIRT658997	hsa-miR-3674	HITS-CLIP	23824327
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624154	hsa-miR-6800-3p	HITS-CLIP	23824327
MIRT624153	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT624152	hsa-miR-3183	HITS-CLIP	23824327
MIRT624151	hsa-miR-4723-3p	HITS-CLIP	23824327
MIRT624150	hsa-miR-6769b-3p	HITS-CLIP	23824327
MIRT624149	hsa-miR-342-3p	HITS-CLIP	23824327
MIRT312255	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT624148	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT624147	hsa-miR-130b-5p	HITS-CLIP	23824327
MIRT624146	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT624145	hsa-miR-4753-3p	HITS-CLIP	23824327
MIRT624144	hsa-miR-4433b-5p	HITS-CLIP	23824327
MIRT624143	hsa-miR-4646-3p	HITS-CLIP	23824327
MIRT624142	hsa-miR-2355-3p	HITS-CLIP	23824327
MIRT935852	hsa-miR-1205	CLIP-seq
MIRT935853	hsa-miR-1231	CLIP-seq
MIRT935854	hsa-miR-1237	CLIP-seq
MIRT935855	hsa-miR-124	CLIP-seq
MIRT935856	hsa-miR-1248	CLIP-seq
MIRT935857	hsa-miR-1273f	CLIP-seq
MIRT935858	hsa-miR-1286	CLIP-seq
MIRT935859	hsa-miR-140-3p	CLIP-seq
MIRT935860	hsa-miR-143	CLIP-seq
MIRT935861	hsa-miR-145	CLIP-seq
MIRT935862	hsa-miR-1909	CLIP-seq
MIRT935863	hsa-miR-1915	CLIP-seq
MIRT935864	hsa-miR-192	CLIP-seq
MIRT935865	hsa-miR-194	CLIP-seq
MIRT935866	hsa-miR-198	CLIP-seq
MIRT935867	hsa-miR-214	CLIP-seq
MIRT935868	hsa-miR-215	CLIP-seq
MIRT935869	hsa-miR-2355-5p	CLIP-seq
MIRT935870	hsa-miR-2861	CLIP-seq
MIRT935871	hsa-miR-3120-3p	CLIP-seq
MIRT935872	hsa-miR-3124-3p	CLIP-seq
MIRT935873	hsa-miR-3127-5p	CLIP-seq
MIRT935874	hsa-miR-3130-3p	CLIP-seq
MIRT935875	hsa-miR-3150b-3p	CLIP-seq
MIRT935876	hsa-miR-3153	CLIP-seq
MIRT935877	hsa-miR-3155	CLIP-seq
MIRT935878	hsa-miR-3155b	CLIP-seq
MIRT935879	hsa-miR-3157-5p	CLIP-seq
MIRT935880	hsa-miR-3173-3p	CLIP-seq
MIRT935881	hsa-miR-3173-5p	CLIP-seq
MIRT935882	hsa-miR-3176	CLIP-seq
MIRT935883	hsa-miR-3184	CLIP-seq
MIRT935884	hsa-miR-320b	CLIP-seq
MIRT935885	hsa-miR-320c	CLIP-seq
MIRT935886	hsa-miR-320d	CLIP-seq
MIRT935887	hsa-miR-331-3p	CLIP-seq
MIRT935888	hsa-miR-3616-3p	CLIP-seq
MIRT935889	hsa-miR-3619-5p	CLIP-seq
MIRT935890	hsa-miR-3689d	CLIP-seq
MIRT935891	hsa-miR-3714	CLIP-seq
MIRT935892	hsa-miR-3908	CLIP-seq
MIRT935893	hsa-miR-3910	CLIP-seq
MIRT935894	hsa-miR-3913-3p	CLIP-seq
MIRT935895	hsa-miR-3918	CLIP-seq
MIRT935896	hsa-miR-3921	CLIP-seq
MIRT935897	hsa-miR-3922-3p	CLIP-seq
MIRT935898	hsa-miR-423-5p	CLIP-seq
MIRT935899	hsa-miR-4251	CLIP-seq
MIRT935900	hsa-miR-4278	CLIP-seq
MIRT935901	hsa-miR-4288	CLIP-seq
MIRT935902	hsa-miR-4312	CLIP-seq
MIRT935903	hsa-miR-4329	CLIP-seq
MIRT935904	hsa-miR-4429	CLIP-seq
MIRT935905	hsa-miR-4436a	CLIP-seq
MIRT935906	hsa-miR-4436b-3p	CLIP-seq
MIRT935907	hsa-miR-4438	CLIP-seq
MIRT935908	hsa-miR-4446-3p	CLIP-seq
MIRT935909	hsa-miR-4457	CLIP-seq
MIRT935910	hsa-miR-4468	CLIP-seq
MIRT935911	hsa-miR-4505	CLIP-seq
MIRT935912	hsa-miR-4514	CLIP-seq
MIRT935913	hsa-miR-4640-5p	CLIP-seq
MIRT935914	hsa-miR-4645-5p	CLIP-seq
MIRT935915	hsa-miR-4653-5p	CLIP-seq
MIRT935916	hsa-miR-4656	CLIP-seq
MIRT935917	hsa-miR-4673	CLIP-seq
MIRT935918	hsa-miR-4682	CLIP-seq
MIRT935919	hsa-miR-4688	CLIP-seq
MIRT935920	hsa-miR-4691-3p	CLIP-seq
MIRT935921	hsa-miR-4692	CLIP-seq
MIRT935922	hsa-miR-4708-5p	CLIP-seq
MIRT935923	hsa-miR-4711-5p	CLIP-seq
MIRT935924	hsa-miR-4716-3p	CLIP-seq
MIRT935925	hsa-miR-4726-3p	CLIP-seq
MIRT935926	hsa-miR-4726-5p	CLIP-seq
MIRT935927	hsa-miR-4738-3p	CLIP-seq
MIRT935928	hsa-miR-4757-5p	CLIP-seq
MIRT935929	hsa-miR-4763-5p	CLIP-seq
MIRT935930	hsa-miR-4768-3p	CLIP-seq
MIRT935931	hsa-miR-4770	CLIP-seq
MIRT935932	hsa-miR-4779	CLIP-seq
MIRT935933	hsa-miR-4784	CLIP-seq
MIRT935934	hsa-miR-4793-3p	CLIP-seq
MIRT935935	hsa-miR-484	CLIP-seq
MIRT935936	hsa-miR-488	CLIP-seq
MIRT935937	hsa-miR-489	CLIP-seq
MIRT935938	hsa-miR-506	CLIP-seq
MIRT935939	hsa-miR-539	CLIP-seq
MIRT935940	hsa-miR-545	CLIP-seq
MIRT935941	hsa-miR-548l	CLIP-seq
MIRT935942	hsa-miR-548n	CLIP-seq
MIRT935943	hsa-miR-548q	CLIP-seq
MIRT935944	hsa-miR-582-3p	CLIP-seq
MIRT935945	hsa-miR-622	CLIP-seq
MIRT935946	hsa-miR-625	CLIP-seq
MIRT935947	hsa-miR-632	CLIP-seq
MIRT935948	hsa-miR-661	CLIP-seq
MIRT935949	hsa-miR-665	CLIP-seq
MIRT935950	hsa-miR-759	CLIP-seq
MIRT935951	hsa-miR-760	CLIP-seq
MIRT935952	hsa-miR-761	CLIP-seq
MIRT935953	hsa-miR-802	CLIP-seq
MIRT935954	hsa-miR-938	CLIP-seq
MIRT935955	hsa-miR-939	CLIP-seq
MIRT935890	hsa-miR-3689d	CLIP-seq
MIRT935894	hsa-miR-3913-3p	CLIP-seq
MIRT935937	hsa-miR-489	CLIP-seq
MIRT1547970	hsa-miR-495	CLIP-seq
MIRT935855	hsa-miR-124	CLIP-seq
MIRT935857	hsa-miR-1273f	CLIP-seq
MIRT1976990	hsa-miR-1294	CLIP-seq
MIRT935860	hsa-miR-143	CLIP-seq
MIRT935861	hsa-miR-145	CLIP-seq
MIRT1976991	hsa-miR-1914	CLIP-seq
MIRT935866	hsa-miR-198	CLIP-seq
MIRT935869	hsa-miR-2355-5p	CLIP-seq
MIRT935874	hsa-miR-3130-3p	CLIP-seq
MIRT1976992	hsa-miR-3147	CLIP-seq
MIRT935879	hsa-miR-3157-5p	CLIP-seq
MIRT1976993	hsa-miR-3919	CLIP-seq
MIRT1976994	hsa-miR-4276	CLIP-seq
MIRT1976995	hsa-miR-4302	CLIP-seq
MIRT935902	hsa-miR-4312	CLIP-seq
MIRT1976996	hsa-miR-4425	CLIP-seq
MIRT1976997	hsa-miR-4487	CLIP-seq
MIRT1976998	hsa-miR-4493	CLIP-seq
MIRT1976999	hsa-miR-450b-3p	CLIP-seq
MIRT1977000	hsa-miR-4660	CLIP-seq
MIRT935920	hsa-miR-4691-3p	CLIP-seq
MIRT935922	hsa-miR-4708-5p	CLIP-seq
MIRT1977001	hsa-miR-4710	CLIP-seq
MIRT1977002	hsa-miR-4731-5p	CLIP-seq
MIRT935931	hsa-miR-4770	CLIP-seq
MIRT935934	hsa-miR-4793-3p	CLIP-seq
MIRT1977003	hsa-miR-483-3p	CLIP-seq
MIRT935938	hsa-miR-506	CLIP-seq
MIRT1977004	hsa-miR-516a-3p	CLIP-seq
MIRT935943	hsa-miR-548q	CLIP-seq
MIRT1977005	hsa-miR-648	CLIP-seq
MIRT935949	hsa-miR-665	CLIP-seq
MIRT1977006	hsa-miR-769-3p	CLIP-seq
MIRT1977007	hsa-miR-942	CLIP-seq
MIRT935855	hsa-miR-124	CLIP-seq
MIRT1977008	hsa-miR-1266	CLIP-seq
MIRT935875	hsa-miR-3150b-3p	CLIP-seq
MIRT935890	hsa-miR-3689d	CLIP-seq
MIRT935893	hsa-miR-3910	CLIP-seq
MIRT935895	hsa-miR-3918	CLIP-seq
MIRT1976993	hsa-miR-3919	CLIP-seq
MIRT1977009	hsa-miR-4518	CLIP-seq
MIRT935922	hsa-miR-4708-5p	CLIP-seq
MIRT1977010	hsa-miR-4735-5p	CLIP-seq
MIRT935933	hsa-miR-4784	CLIP-seq
MIRT935938	hsa-miR-506	CLIP-seq
MIRT935949	hsa-miR-665	CLIP-seq
MIRT1977002	hsa-miR-4731-5p	CLIP-seq
MIRT935948	hsa-miR-661	CLIP-seq
MIRT935890	hsa-miR-3689d	CLIP-seq
MIRT2212444	hsa-miR-3978	CLIP-seq
MIRT935922	hsa-miR-4708-5p	CLIP-seq
MIRT935923	hsa-miR-4711-5p	CLIP-seq
MIRT935949	hsa-miR-665	CLIP-seq
MIRT935919	hsa-miR-4688	CLIP-seq
MIRT935854	hsa-miR-1237	CLIP-seq
MIRT935856	hsa-miR-1248	CLIP-seq
MIRT935872	hsa-miR-3124-3p	CLIP-seq
MIRT935873	hsa-miR-3127-5p	CLIP-seq
MIRT935882	hsa-miR-3176	CLIP-seq
MIRT935895	hsa-miR-3918	CLIP-seq
MIRT935897	hsa-miR-3922-3p	CLIP-seq
MIRT935899	hsa-miR-4251	CLIP-seq
MIRT935908	hsa-miR-4446-3p	CLIP-seq
MIRT935911	hsa-miR-4505	CLIP-seq
MIRT935916	hsa-miR-4656	CLIP-seq
MIRT935928	hsa-miR-4757-5p	CLIP-seq
MIRT935934	hsa-miR-4793-3p	CLIP-seq
MIRT935939	hsa-miR-539	CLIP-seq
MIRT935954	hsa-miR-938	CLIP-seq
MIRT935853	hsa-miR-1231	CLIP-seq
MIRT935855	hsa-miR-124	CLIP-seq
MIRT2516125	hsa-miR-1245b-5p	CLIP-seq
MIRT2516126	hsa-miR-1252	CLIP-seq
MIRT935857	hsa-miR-1273f	CLIP-seq
MIRT935860	hsa-miR-143	CLIP-seq
MIRT2516127	hsa-miR-146b-3p	CLIP-seq
MIRT2516128	hsa-miR-1827	CLIP-seq
MIRT935863	hsa-miR-1915	CLIP-seq
MIRT935864	hsa-miR-192	CLIP-seq
MIRT935865	hsa-miR-194	CLIP-seq
MIRT935866	hsa-miR-198	CLIP-seq
MIRT935867	hsa-miR-214	CLIP-seq
MIRT935868	hsa-miR-215	CLIP-seq
MIRT935870	hsa-miR-2861	CLIP-seq
MIRT2516129	hsa-miR-3121-5p	CLIP-seq
MIRT935873	hsa-miR-3127-5p	CLIP-seq
MIRT2516130	hsa-miR-3142	CLIP-seq
MIRT935875	hsa-miR-3150b-3p	CLIP-seq
MIRT935876	hsa-miR-3153	CLIP-seq
MIRT935877	hsa-miR-3155	CLIP-seq
MIRT935878	hsa-miR-3155b	CLIP-seq
MIRT935881	hsa-miR-3173-5p	CLIP-seq
MIRT935882	hsa-miR-3176	CLIP-seq
MIRT2516131	hsa-miR-323-3p	CLIP-seq
MIRT2516132	hsa-miR-33a	CLIP-seq
MIRT2516133	hsa-miR-33b	CLIP-seq
MIRT2516134	hsa-miR-3612	CLIP-seq
MIRT935889	hsa-miR-3619-5p	CLIP-seq
MIRT935891	hsa-miR-3714	CLIP-seq
MIRT935893	hsa-miR-3910	CLIP-seq
MIRT935894	hsa-miR-3913-3p	CLIP-seq
MIRT935895	hsa-miR-3918	CLIP-seq
MIRT935896	hsa-miR-3921	CLIP-seq
MIRT935897	hsa-miR-3922-3p	CLIP-seq
MIRT935899	hsa-miR-4251	CLIP-seq
MIRT2516135	hsa-miR-4271	CLIP-seq
MIRT935900	hsa-miR-4278	CLIP-seq
MIRT935901	hsa-miR-4288	CLIP-seq
MIRT935902	hsa-miR-4312	CLIP-seq
MIRT2516136	hsa-miR-4328	CLIP-seq
MIRT935903	hsa-miR-4329	CLIP-seq
MIRT935907	hsa-miR-4438	CLIP-seq
MIRT2516137	hsa-miR-4443	CLIP-seq
MIRT935908	hsa-miR-4446-3p	CLIP-seq
MIRT2516138	hsa-miR-4464	CLIP-seq
MIRT2516139	hsa-miR-4476	CLIP-seq
MIRT935911	hsa-miR-4505	CLIP-seq
MIRT2516140	hsa-miR-4533	CLIP-seq
MIRT935913	hsa-miR-4640-5p	CLIP-seq
MIRT935915	hsa-miR-4653-5p	CLIP-seq
MIRT935916	hsa-miR-4656	CLIP-seq
MIRT935918	hsa-miR-4682	CLIP-seq
MIRT935922	hsa-miR-4708-5p	CLIP-seq
MIRT2516141	hsa-miR-4715-3p	CLIP-seq
MIRT935924	hsa-miR-4716-3p	CLIP-seq
MIRT2516142	hsa-miR-4725-3p	CLIP-seq
MIRT935925	hsa-miR-4726-3p	CLIP-seq
MIRT935926	hsa-miR-4726-5p	CLIP-seq
MIRT935927	hsa-miR-4738-3p	CLIP-seq
MIRT2516143	hsa-miR-4747-5p	CLIP-seq
MIRT2516144	hsa-miR-4748	CLIP-seq
MIRT935929	hsa-miR-4763-5p	CLIP-seq
MIRT935931	hsa-miR-4770	CLIP-seq
MIRT935933	hsa-miR-4784	CLIP-seq
MIRT2516145	hsa-miR-4802-5p	CLIP-seq
MIRT935935	hsa-miR-484	CLIP-seq
MIRT935937	hsa-miR-489	CLIP-seq
MIRT2516146	hsa-miR-501-5p	CLIP-seq
MIRT935938	hsa-miR-506	CLIP-seq
MIRT935939	hsa-miR-539	CLIP-seq
MIRT935944	hsa-miR-582-3p	CLIP-seq
MIRT2516147	hsa-miR-600	CLIP-seq
MIRT935946	hsa-miR-625	CLIP-seq
MIRT935947	hsa-miR-632	CLIP-seq
MIRT2516148	hsa-miR-650	CLIP-seq
MIRT935948	hsa-miR-661	CLIP-seq
MIRT935951	hsa-miR-760	CLIP-seq
MIRT935952	hsa-miR-761	CLIP-seq
MIRT935953	hsa-miR-802	CLIP-seq
MIRT2516149	hsa-miR-874	CLIP-seq
MIRT935876	hsa-miR-3153	CLIP-seq
MIRT2516131	hsa-miR-323-3p	CLIP-seq
MIRT935900	hsa-miR-4278	CLIP-seq
MIRT2516141	hsa-miR-4715-3p	CLIP-seq
MIRT935924	hsa-miR-4716-3p	CLIP-seq
MIRT2516145	hsa-miR-4802-5p	CLIP-seq
MIRT2516147	hsa-miR-600	CLIP-seq
MIRT935946	hsa-miR-625	CLIP-seq

Show/Hide all (37)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674
GO:0003779	Function	Actin binding	IEA
GO:0005102	Function	Signaling receptor binding	NAS	9360932
GO:0005515	Function	Protein binding	IPI	18218625, 18230650, 18922799, 22190034, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005884	Component	Actin filament	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0007010	Process	Cytoskeleton organization	IMP	21834987
GO:0007010	Process	Cytoskeleton organization	ISS
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9360932
GO:0008360	Process	Regulation of cell shape	IMP	21834987
GO:0016020	Component	Membrane	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030041	Process	Actin filament polymerization	IBA
GO:0030041	Process	Actin filament polymerization	ISS
GO:0030667	Component	Secretory granule membrane	TAS
GO:0031267	Function	Small GTPase binding	IEA
GO:0032587	Component	Ruffle membrane	IEA
GO:0032886	Process	Regulation of microtubule-based process	IMP	20937854
GO:0035372	Process	Protein localization to microtubule	IMP	15123714
GO:0042995	Component	Cell projection	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	15123714
GO:0051279	Process	Regulation of release of sequestered calcium ion into cytosol	IMP	15123714
GO:0051493	Process	Regulation of cytoskeleton organization	IMP	26912466
GO:0071420	Process	Cellular response to histamine	IMP	15123714
GO:0072686	Component	Mitotic spindle	IDA	15123714
GO:0101003	Component	Ficolin-1-rich granule membrane	TAS

MIM	HGNC	e!Ensembl
602121	2876	ENSG00000131504

O60610

Protein name

Protein diaphanous homolog 1 (Diaphanous-related formin-1) (DRF1)

Protein function

Actin nucleation and elongation factor required for the assembly of F-actin structures, such as actin cables and stress fibers (By similarity). Binds to the barbed end of the actin filament and slows down actin polymerization and depolymerizatio

PDB

8FG1

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06371	Drf_GBD	84 → 268	Diaphanous GTPase-binding Domain	Family
PF06367	Drf_FH3	274 → 464	Diaphanous FH3 Domain	Family
PF06346	Drf_FH1	614 → 691		Repeat
PF06346	Drf_FH1	662 → 764		Repeat
PF02181	FH2	769 → 1146	Formin Homology 2 Domain	Family
PF06345	Drf_DAD	1197 → 1211	DRF Autoregulatory Domain	Motif

Tissue specificity

TISSUE SPECIFICITY: Expressed in brain, heart, placenta, lung, kidney, pancreas, liver, skeletal muscle and cochlea. Expressed in platelets (PubMed:26912466). {ECO:0000269|PubMed:26912466}.

Sequence

MEPPGGSLGPGRGTRDKKKGRSPDELPSAGGDGGKSKKFTLKRLMADELERFTSMRIKKE
KEKPNSAHRNSSASYGDDPTAQSLQDVSDEQVLVLFEQMLLDMNLNEEKQQPLREKDIII
KREMVSQYLYTSKAGMSQKESSKSAMMYIQELRSGLRDMPLLSCLESLRVSLNNNPVSWV
QTFGAEGLASLLDILKRLHDEKEETAGSYDSRNKHEIIRCLKAFMNNKFGIKTMLETEEG
ILLLVRAMDPAVPNMMIDAAKLLSALCILPQPEDMNERVLEAMTERAEMDEVERFQPLLD
GLKSGTTIALKVGCLQLINALITPAEELDFRVHIRSELMRLGLHQVLQDLREIENEDMRV
QLNVFDEQGEEDSYDLKGRLDDIRMEMDDFNEVFQILLNTVKDSKAEPHFLSILQHLLLV
RNDYEARPQYYKLIEECISQIVLHKNGADPDFKCRHLQIEIEGLIDQMIDKTKVEKSEAK
AAELEKKLDSELTARHELQVEMKKMESDFEQKLQDLQGEKDALHSEKQQIATEKQDLEAE
VSQLTGEVAKLTKELEDAKKEMASLSAAAITVPPSVPSRAPVPPAPPLPGDSGTIIPPPP
APGDSTTPPPPPPPPPPPPPLPGGVCISSPPSLPGGTAISPPPPLSGDATIPPPPPLPEG
VGIPSPSSLPGGTAIPPPPPLPGSARIPPPPPPLPGSAGIPPPPPPLPGEAGMPPPPPPL
PGGPGIPPPPPFPGGPGIPPPPPGMGMPPPPPFGFGVPAAPVLPFGLTPKKLYKPEVQLR
RPNWSKLVAEDLSQDCFWTKVKEDRFENNELFAKLTLTFSAQTKTSKAKKDQEGGEEKKS
VQKKKVKELKVLDSKTAQNLSIFLGSFRMPYQEIKNVILEVNEAVLTESMIQNLIKQMPE
PEQLKMLSELKDEYDDLAESEQFGVVMGTVPRLRPRLNAILFKLQFSEQVENIKPEIVSV
TAACEELRKSESFSNLLEITLLVGNYMNAGSRNAGAFGFNISFLCKLRDTKSTDQKMTLL
HFLAELCENDYPDVLKFPDELAHVEKASRVSAENLQKNLDQMKKQISDVERDVQNFPAAT
DEKDKFVEKMTSFVKDAQEQYNKLRMMHSNMETLYKELGEYFLFDPKKLSVEEFFMDLHN
FRNMFLQAVKENQKRRETEEKMRRAKLAKEKAEKERLEKQQKREQLIDMNAEGDETGVMD
SLLEALQSGAAFRRKRGPRQANRKAGCAVTSLLASELTKDDAMAAVPAKVSKNSETFPTI
LEEAKELVGRAS

Sequence length

1272

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 (14)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Auditory neuropathy spectrum disorder	Likely pathogenic	rs2513764771	RCV003984979	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autosomal dominant nonsyndromic hearing loss 1	Likely pathogenic; Pathogenic	rs763349669, rs1461242879, rs2154597562, rs771360300, rs1331356644, rs2154596284, rs2154596613, rs2099896905, rs2154596461, rs2154596416, rs2154596448, rs730882242, rs1455361577, rs2513746067, rs755174598 View all (14 more)	RCV001376740 RCV001390711 RCV001383240 RCV001919847 RCV001880335 View all (24 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deafness	Pathogenic	rs863225243	RCV004798807	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DIAPH1-related disorder	Likely pathogenic	rs758562288	RCV003404593	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Epilepsy	Likely pathogenic; Pathogenic	rs730882242	RCV000162177	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Failure to thrive	Likely pathogenic; Pathogenic	rs730882242	RCV000162177	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Likely pathogenic; Pathogenic	rs730882242	RCV000162177	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs1235751512, rs1596335566	RCV001375058 RCV001003903	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Macrothrombocytopenia	Likely pathogenic	rs1596335566	RCV001003903	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Likely pathogenic; Pathogenic	rs730882242	RCV000162177	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neonatal seizure	Pathogenic; Likely pathogenic	rs753100456, rs2099887720	RCV001328492 RCV001328493	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pendred syndrome	Likely pathogenic	rs2154596304	RCV001375466	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Pathogenic; Likely pathogenic	rs753100456, rs763349669, rs1461242879, rs2154597562, rs771360300, rs1331356644, rs2154596284, rs2154596613, rs2099896905, rs2154596461, rs2154596416, rs2154596448, rs730882242, rs1455361577, rs2513746067 View all (17 more)	RCV005866949 RCV001332581 RCV001390711 RCV001383240 RCV001919847 View all (27 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Rare genetic deafness	Pathogenic	rs876657776	RCV000216048	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (37)

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	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Beta-D-mannosidosis	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONVULSIONS IN THE NEWBORN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEMENTIA, VASCULAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	Uncertain significance	ClinVar ClinGen, Disgenet, Orphanet ClinGen, Disgenet, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DIAPHANOUS RELATED FORMIN 1 RELATED SENSORINEURAL HEARING LOSS, THROMBOCYTOPENIA SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOYAMOYA DISEASE	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Hearing Loss, Mixed	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PENDREDS SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME	—	CTD, HPO CTD, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Uncertain significance; Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular dementia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (85)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
amyloidosis IX	Amyloidosis	Pubtator	37400591	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	33689956	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arterial Occlusive Diseases	Arterial occlusive disease	Pubtator	31899686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Auditory neuropathy	Auditory neuropathy	Pubtator	32087478	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	26463574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34999731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Central visual impairment	Central Visual Impairment	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	31899686	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	31899686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chromosomal Instability	Chromosomal instability	Pubtator	33689956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	24105619, 26124177		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24105619		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	33689956	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	29239839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	35060117	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness Autosomal Dominant 1	Deafness	Pubtator	11709537, 18518985, 36071244	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)	Deafness	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)	Deafness	CLINGEN_DG	17182868, 19102128, 23325789, 26912466, 27068579, 27707755, 27808407, 9360932		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)	Deafness	UNIPROT_DG	22938506, 26912466, 27808407, 9360932		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)	Deafness	GENOMICS_ENGLAND_DG	26463574, 26912466, 27707755		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)	Deafness	ORPHANET_DG	26912466, 27808407		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL DOMINANT 1 (disorder)	Deafness	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 13	Deafness	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 9	Deafness	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
DEAFNESS, AUTOSOMAL RECESSIVE 2	Deafness	BEFREE	12324385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	30132346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	30132346		★★★★★ ★☆☆☆☆ Found in Text Mining only
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Orphanet			★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	23942094		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	24317603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	31861134, 37427593	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	24317603		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29035824		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	GENOMICS_ENGLAND_DG	26463574		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Global developmental delay	Developmental Delay	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing Loss	Hearing loss	Pubtator	22938506, 26912466, 32087478, 34279089, 35060117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	11709537, 26912466, 34223798, 34795337, 35060117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	29985732	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	34103691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	26463574		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	BEFREE	30132346		★★★★★ ★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	30733838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low frequency deafness	Low-frequency hearing loss	BEFREE	12324385, 15490091		★★★★★ ★☆☆☆☆ Found in Text Mining only
Low frequency deafness	Low-frequency hearing loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	26912466, 28815995		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	25744544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12226751, 17575049		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	24105619, 26124177		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	LHGDN	17182868		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Methemoglobinemia, Type I	Methemoglobinemia	BEFREE	10874300		★★★★★ ★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	24781755, 26463574, 27808407		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	Pubtator	33662367, 35060117	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Microcephaly	Microcephaly	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Mitochondrial Diseases	Mitochondrial disease	Pubtator	33662367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Moyamoya Disease	Moyamoya disease	Pubtator	34125151, 37400591	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	19597464		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	29239839		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	34999731	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29035824, 30094535		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	26463574		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	Pubtator	34223798	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	18348273, 9360932		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34103691	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	Orphanet			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Seizures	Seizures	Pubtator	33662367, 35060117	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME	SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME	ORPHANET_DG	24781755, 2643574		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME	SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME	GENOMICS_ENGLAND_DG	26463574, 26912466		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME	SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME	SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	16043233, 26912466, 27707755		★★★★★ ★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal dysplasia Omani type	Spondyloepiphyseal dysplasia	Pubtator	33662367	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30733838	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30733838		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	31899686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	31899686	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	25744544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	25744544		★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Wolfram syndrome	Pubtator	11709537	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Wolfram Syndrome	Wolfram Syndrome	BEFREE	15490091		★★★★★ ★☆☆☆☆ Found in Text Mining only

DIAPH1 (diaphanous related formin 1)