RFWD3 (ring finger and WD repeat domain 3)

Gene

• Entrez ID: 55159
• Gene name: Ring finger and WD repeat domain 3
• Gene symbol: RFWD3
• Synonyms (NCBI Gene): FANCW, RNF201
• Chromosome: 16
• Chromosome location: 16q23.1

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1205970095	->GG	Pathogenic	Coding sequence variant, intron variant, 5 prime UTR variant, frameshift variant
rs1555524842	A>T	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019540	hsa-miR-340-5p	Sequencing	20371350
MIRT022290	hsa-miR-124-3p	Microarray	18668037
MIRT024660	hsa-miR-215-5p	Microarray	19074876
MIRT026221	hsa-miR-192-5p	Microarray	19074876
MIRT051730	hsa-let-7c-5p	CLASH	23622248
MIRT046102	hsa-miR-125b-5p	CLASH	23622248
MIRT042746	hsa-miR-339-5p	CLASH	23622248
MIRT041944	hsa-miR-484	CLASH	23622248
MIRT700209	hsa-miR-8066	HITS-CLIP	23313552
MIRT700208	hsa-miR-378j	HITS-CLIP	23313552
MIRT700207	hsa-miR-6839-5p	HITS-CLIP	23313552
MIRT700206	hsa-miR-219b-5p	HITS-CLIP	23313552
MIRT700205	hsa-miR-1254	HITS-CLIP	23313552
MIRT700204	hsa-miR-3116	HITS-CLIP	23313552
MIRT700203	hsa-miR-3167	HITS-CLIP	23313552
MIRT700202	hsa-miR-876-5p	HITS-CLIP	23313552
MIRT700201	hsa-miR-1290	HITS-CLIP	23313552
MIRT019540	hsa-miR-340-5p	HITS-CLIP	23313552
MIRT569442	hsa-miR-877-3p	PAR-CLIP	20371350
MIRT569441	hsa-miR-492	PAR-CLIP	20371350
MIRT569440	hsa-miR-3713	PAR-CLIP	20371350
MIRT569439	hsa-miR-6881-3p	PAR-CLIP	20371350
MIRT499360	hsa-miR-5583-3p	PAR-CLIP	24398324
MIRT499359	hsa-miR-486-3p	PAR-CLIP	24398324
MIRT499358	hsa-miR-541-3p	PAR-CLIP	24398324
MIRT499357	hsa-miR-654-5p	PAR-CLIP	24398324
MIRT499356	hsa-miR-92a-2-5p	PAR-CLIP	24398324
MIRT499355	hsa-miR-6769a-5p	PAR-CLIP	24398324
MIRT499354	hsa-miR-6769b-5p	PAR-CLIP	24398324
MIRT499353	hsa-miR-4504	PAR-CLIP	24398324
MIRT499352	hsa-miR-3151-5p	PAR-CLIP	24398324
MIRT075503	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT075503	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT569440	hsa-miR-3713	PAR-CLIP	27292025
MIRT569441	hsa-miR-492	PAR-CLIP	27292025
MIRT569439	hsa-miR-6881-3p	PAR-CLIP	27292025
MIRT569442	hsa-miR-877-3p	PAR-CLIP	27292025
MIRT700209	hsa-miR-8066	HITS-CLIP	23313552
MIRT700208	hsa-miR-378j	HITS-CLIP	23313552
MIRT700207	hsa-miR-6839-5p	HITS-CLIP	23313552
MIRT700206	hsa-miR-219b-5p	HITS-CLIP	23313552
MIRT700205	hsa-miR-1254	HITS-CLIP	23313552
MIRT700204	hsa-miR-3116	HITS-CLIP	23313552
MIRT700203	hsa-miR-3167	HITS-CLIP	23313552
MIRT700202	hsa-miR-876-5p	HITS-CLIP	23313552
MIRT700201	hsa-miR-1290	HITS-CLIP	23313552
MIRT019540	hsa-miR-340-5p	HITS-CLIP	23313552
MIRT569442	hsa-miR-877-3p	PAR-CLIP	20371350
MIRT569441	hsa-miR-492	PAR-CLIP	20371350
MIRT569440	hsa-miR-3713	PAR-CLIP	20371350
MIRT569439	hsa-miR-6881-3p	PAR-CLIP	20371350
MIRT499360	hsa-miR-5583-3p	PAR-CLIP	24398324
MIRT499359	hsa-miR-486-3p	PAR-CLIP	24398324
MIRT499358	hsa-miR-541-3p	PAR-CLIP	24398324
MIRT499357	hsa-miR-654-5p	PAR-CLIP	24398324
MIRT499356	hsa-miR-92a-2-5p	PAR-CLIP	24398324
MIRT499355	hsa-miR-6769a-5p	PAR-CLIP	24398324
MIRT499354	hsa-miR-6769b-5p	PAR-CLIP	24398324
MIRT499353	hsa-miR-4504	PAR-CLIP	24398324
MIRT499352	hsa-miR-3151-5p	PAR-CLIP	24398324
MIRT1302107	hsa-miR-1	CLIP-seq
MIRT1302108	hsa-miR-122	CLIP-seq
MIRT1302109	hsa-miR-1225-3p	CLIP-seq
MIRT1302110	hsa-miR-1228	CLIP-seq
MIRT1302111	hsa-miR-1233	CLIP-seq
MIRT1302112	hsa-miR-1243	CLIP-seq
MIRT1302113	hsa-miR-1245b-3p	CLIP-seq
MIRT1302114	hsa-miR-1261	CLIP-seq
MIRT1302115	hsa-miR-1267	CLIP-seq
MIRT1302116	hsa-miR-1273e	CLIP-seq
MIRT1302117	hsa-miR-127-5p	CLIP-seq
MIRT1302118	hsa-miR-1279	CLIP-seq
MIRT1302119	hsa-miR-1280	CLIP-seq
MIRT1302120	hsa-miR-1289	CLIP-seq
MIRT1302121	hsa-miR-1304	CLIP-seq
MIRT1302122	hsa-miR-1305	CLIP-seq
MIRT1302123	hsa-miR-130a	CLIP-seq
MIRT1302124	hsa-miR-130b	CLIP-seq
MIRT1302125	hsa-miR-1321	CLIP-seq
MIRT1302126	hsa-miR-137	CLIP-seq
MIRT1302127	hsa-miR-142-5p	CLIP-seq
MIRT1302128	hsa-miR-1537	CLIP-seq
MIRT1302129	hsa-miR-182	CLIP-seq
MIRT1302130	hsa-miR-1827	CLIP-seq
MIRT1302131	hsa-miR-185	CLIP-seq
MIRT1302132	hsa-miR-186	CLIP-seq
MIRT1302133	hsa-miR-206	CLIP-seq
MIRT1302134	hsa-miR-2110	CLIP-seq
MIRT1302135	hsa-miR-2355-5p	CLIP-seq
MIRT1302136	hsa-miR-23a	CLIP-seq
MIRT1302137	hsa-miR-23b	CLIP-seq
MIRT1302138	hsa-miR-23c	CLIP-seq
MIRT1302139	hsa-miR-2964a-5p	CLIP-seq
MIRT1302140	hsa-miR-301a	CLIP-seq
MIRT1302141	hsa-miR-301b	CLIP-seq
MIRT1302142	hsa-miR-3064-3p	CLIP-seq
MIRT1302143	hsa-miR-3133	CLIP-seq
MIRT1302144	hsa-miR-3135b	CLIP-seq
MIRT1302145	hsa-miR-3138	CLIP-seq
MIRT1302146	hsa-miR-3145-5p	CLIP-seq
MIRT1302147	hsa-miR-3148	CLIP-seq
MIRT1302148	hsa-miR-3151	CLIP-seq
MIRT1302149	hsa-miR-3162-5p	CLIP-seq
MIRT1302150	hsa-miR-3165	CLIP-seq
MIRT1302151	hsa-miR-3190	CLIP-seq
MIRT1302152	hsa-miR-3194-3p	CLIP-seq
MIRT1302153	hsa-miR-3198	CLIP-seq
MIRT1302154	hsa-miR-3199	CLIP-seq
MIRT1302155	hsa-miR-326	CLIP-seq
MIRT1302156	hsa-miR-330-3p	CLIP-seq
MIRT1302157	hsa-miR-330-5p	CLIP-seq
MIRT1302158	hsa-miR-338-5p	CLIP-seq
MIRT1302159	hsa-miR-340	CLIP-seq
MIRT1302160	hsa-miR-3591-5p	CLIP-seq
MIRT1302161	hsa-miR-3606	CLIP-seq
MIRT1302162	hsa-miR-3614-3p	CLIP-seq
MIRT1302163	hsa-miR-3652	CLIP-seq
MIRT1302164	hsa-miR-3653	CLIP-seq
MIRT1302165	hsa-miR-3658	CLIP-seq
MIRT1302166	hsa-miR-3661	CLIP-seq
MIRT1302167	hsa-miR-3666	CLIP-seq
MIRT1302168	hsa-miR-3668	CLIP-seq
MIRT1302169	hsa-miR-3673	CLIP-seq
MIRT1302170	hsa-miR-3681	CLIP-seq
MIRT1302171	hsa-miR-3687	CLIP-seq
MIRT1302172	hsa-miR-3690	CLIP-seq
MIRT1302173	hsa-miR-377	CLIP-seq
MIRT1302174	hsa-miR-3935	CLIP-seq
MIRT1302175	hsa-miR-3938	CLIP-seq
MIRT1302176	hsa-miR-3940-5p	CLIP-seq
MIRT1302177	hsa-miR-3973	CLIP-seq
MIRT1302178	hsa-miR-3974	CLIP-seq
MIRT1302179	hsa-miR-4260	CLIP-seq
MIRT1302180	hsa-miR-4264	CLIP-seq
MIRT1302181	hsa-miR-4271	CLIP-seq
MIRT1302182	hsa-miR-4274	CLIP-seq
MIRT1302183	hsa-miR-4283	CLIP-seq
MIRT1302184	hsa-miR-4286	CLIP-seq
MIRT1302185	hsa-miR-4294	CLIP-seq
MIRT1302186	hsa-miR-4295	CLIP-seq
MIRT1302187	hsa-miR-4306	CLIP-seq
MIRT1302188	hsa-miR-4307	CLIP-seq
MIRT1302189	hsa-miR-4309	CLIP-seq
MIRT1302190	hsa-miR-431	CLIP-seq
MIRT1302191	hsa-miR-4330	CLIP-seq
MIRT1302192	hsa-miR-4427	CLIP-seq
MIRT1302193	hsa-miR-4430	CLIP-seq
MIRT1302194	hsa-miR-4431	CLIP-seq
MIRT1302195	hsa-miR-4433	CLIP-seq
MIRT1302196	hsa-miR-4436a	CLIP-seq
MIRT1302197	hsa-miR-4442	CLIP-seq
MIRT1302198	hsa-miR-4456	CLIP-seq
MIRT1302199	hsa-miR-4457	CLIP-seq
MIRT1302200	hsa-miR-4460	CLIP-seq
MIRT1302201	hsa-miR-4463	CLIP-seq
MIRT1302202	hsa-miR-4470	CLIP-seq
MIRT1302203	hsa-miR-4489	CLIP-seq
MIRT1302204	hsa-miR-4493	CLIP-seq
MIRT1302205	hsa-miR-4507	CLIP-seq
MIRT1302206	hsa-miR-4511	CLIP-seq
MIRT1302207	hsa-miR-4515	CLIP-seq
MIRT1302208	hsa-miR-4519	CLIP-seq
MIRT1302209	hsa-miR-4534	CLIP-seq
MIRT1302210	hsa-miR-454	CLIP-seq
MIRT1302211	hsa-miR-4634	CLIP-seq
MIRT1302212	hsa-miR-4635	CLIP-seq
MIRT1302213	hsa-miR-4638-3p	CLIP-seq
MIRT1302214	hsa-miR-4642	CLIP-seq
MIRT1302215	hsa-miR-4644	CLIP-seq
MIRT1302216	hsa-miR-4646-5p	CLIP-seq
MIRT1302217	hsa-miR-4649-3p	CLIP-seq
MIRT1302218	hsa-miR-4652-3p	CLIP-seq
MIRT1302219	hsa-miR-4652-5p	CLIP-seq
MIRT1302220	hsa-miR-4666-3p	CLIP-seq
MIRT1302221	hsa-miR-4667-5p	CLIP-seq
MIRT1302222	hsa-miR-4668-5p	CLIP-seq
MIRT1302223	hsa-miR-4671-3p	CLIP-seq
MIRT1302224	hsa-miR-4680-3p	CLIP-seq
MIRT1302225	hsa-miR-4680-5p	CLIP-seq
MIRT1302226	hsa-miR-4686	CLIP-seq
MIRT1302227	hsa-miR-4694-3p	CLIP-seq
MIRT1302228	hsa-miR-4700-3p	CLIP-seq
MIRT1302229	hsa-miR-4700-5p	CLIP-seq
MIRT1302230	hsa-miR-4708-3p	CLIP-seq
MIRT1302231	hsa-miR-4715-3p	CLIP-seq
MIRT1302232	hsa-miR-4717-3p	CLIP-seq
MIRT1302233	hsa-miR-4725-3p	CLIP-seq
MIRT1302234	hsa-miR-4727-3p	CLIP-seq
MIRT1302235	hsa-miR-4731-3p	CLIP-seq
MIRT1302236	hsa-miR-4739	CLIP-seq
MIRT1302237	hsa-miR-4747-5p	CLIP-seq
MIRT1302238	hsa-miR-4749-3p	CLIP-seq
MIRT1302239	hsa-miR-4752	CLIP-seq
MIRT1302240	hsa-miR-4756-5p	CLIP-seq
MIRT1302241	hsa-miR-4761-5p	CLIP-seq
MIRT1302242	hsa-miR-4773	CLIP-seq
MIRT1302243	hsa-miR-4778-5p	CLIP-seq
MIRT1302244	hsa-miR-4786-3p	CLIP-seq
MIRT1302245	hsa-miR-4795-5p	CLIP-seq
MIRT1302246	hsa-miR-4801	CLIP-seq
MIRT1302247	hsa-miR-485-5p	CLIP-seq
MIRT1302248	hsa-miR-491-5p	CLIP-seq
MIRT1302249	hsa-miR-495	CLIP-seq
MIRT1302250	hsa-miR-541	CLIP-seq
MIRT1302251	hsa-miR-548a-5p	CLIP-seq
MIRT1302252	hsa-miR-548ab	CLIP-seq
MIRT1302253	hsa-miR-548ae	CLIP-seq
MIRT1302254	hsa-miR-548aj	CLIP-seq
MIRT1302255	hsa-miR-548ak	CLIP-seq
MIRT1302256	hsa-miR-548am	CLIP-seq
MIRT1302257	hsa-miR-548b-3p	CLIP-seq
MIRT1302258	hsa-miR-548b-5p	CLIP-seq
MIRT1302259	hsa-miR-548c-5p	CLIP-seq
MIRT1302260	hsa-miR-548d-5p	CLIP-seq
MIRT1302261	hsa-miR-548h	CLIP-seq
MIRT1302262	hsa-miR-548i	CLIP-seq
MIRT1302263	hsa-miR-548j	CLIP-seq
MIRT1302264	hsa-miR-548k	CLIP-seq
MIRT1302265	hsa-miR-548l	CLIP-seq
MIRT1302266	hsa-miR-548p	CLIP-seq
MIRT1302267	hsa-miR-548w	CLIP-seq
MIRT1302268	hsa-miR-548x	CLIP-seq
MIRT1302269	hsa-miR-548y	CLIP-seq
MIRT1302270	hsa-miR-549	CLIP-seq
MIRT1302271	hsa-miR-559	CLIP-seq
MIRT1302272	hsa-miR-568	CLIP-seq
MIRT1302273	hsa-miR-569	CLIP-seq
MIRT1302274	hsa-miR-577	CLIP-seq
MIRT1302275	hsa-miR-582-3p	CLIP-seq
MIRT1302276	hsa-miR-613	CLIP-seq
MIRT1302277	hsa-miR-619	CLIP-seq
MIRT1302278	hsa-miR-621	CLIP-seq
MIRT1302279	hsa-miR-622	CLIP-seq
MIRT1302280	hsa-miR-624	CLIP-seq
MIRT1302281	hsa-miR-631	CLIP-seq
MIRT1302282	hsa-miR-637	CLIP-seq
MIRT1302283	hsa-miR-665	CLIP-seq
MIRT1302284	hsa-miR-676	CLIP-seq
MIRT1302285	hsa-miR-924	CLIP-seq
MIRT2089652	hsa-miR-1182	CLIP-seq
MIRT2089653	hsa-miR-1197	CLIP-seq
MIRT1302108	hsa-miR-122	CLIP-seq
MIRT1302113	hsa-miR-1245b-3p	CLIP-seq
MIRT1302114	hsa-miR-1261	CLIP-seq
MIRT2089654	hsa-miR-1270	CLIP-seq
MIRT1302116	hsa-miR-1273e	CLIP-seq
MIRT1302118	hsa-miR-1279	CLIP-seq
MIRT1302120	hsa-miR-1289	CLIP-seq
MIRT2089655	hsa-miR-129-5p	CLIP-seq
MIRT2089656	hsa-miR-1297	CLIP-seq
MIRT1302121	hsa-miR-1304	CLIP-seq
MIRT1302122	hsa-miR-1305	CLIP-seq
MIRT1302123	hsa-miR-130a	CLIP-seq
MIRT1302124	hsa-miR-130b	CLIP-seq
MIRT2089657	hsa-miR-1343	CLIP-seq
MIRT2089658	hsa-miR-142-3p	CLIP-seq
MIRT2089659	hsa-miR-150	CLIP-seq
MIRT2089660	hsa-miR-1909	CLIP-seq
MIRT2089661	hsa-miR-1915	CLIP-seq
MIRT2089662	hsa-miR-192	CLIP-seq
MIRT2089663	hsa-miR-1976	CLIP-seq
MIRT1302134	hsa-miR-2110	CLIP-seq
MIRT2089664	hsa-miR-2115	CLIP-seq
MIRT2089665	hsa-miR-2116	CLIP-seq
MIRT2089666	hsa-miR-215	CLIP-seq
MIRT2089667	hsa-miR-22	CLIP-seq
MIRT2089668	hsa-miR-26a	CLIP-seq
MIRT2089669	hsa-miR-26b	CLIP-seq
MIRT1302140	hsa-miR-301a	CLIP-seq
MIRT1302141	hsa-miR-301b	CLIP-seq
MIRT2089670	hsa-miR-3074-5p	CLIP-seq
MIRT2089671	hsa-miR-31	CLIP-seq
MIRT2089672	hsa-miR-3117-5p	CLIP-seq
MIRT2089673	hsa-miR-3119	CLIP-seq
MIRT2089674	hsa-miR-3128	CLIP-seq
MIRT2089675	hsa-miR-3130-3p	CLIP-seq
MIRT2089676	hsa-miR-3130-5p	CLIP-seq
MIRT1302144	hsa-miR-3135b	CLIP-seq
MIRT2089677	hsa-miR-3137	CLIP-seq
MIRT2089678	hsa-miR-3140-3p	CLIP-seq
MIRT2089679	hsa-miR-3175	CLIP-seq
MIRT1302152	hsa-miR-3194-3p	CLIP-seq
MIRT1302154	hsa-miR-3199	CLIP-seq
MIRT1302155	hsa-miR-326	CLIP-seq
MIRT1302156	hsa-miR-330-3p	CLIP-seq
MIRT1302157	hsa-miR-330-5p	CLIP-seq
MIRT2089680	hsa-miR-34b	CLIP-seq
MIRT2089681	hsa-miR-34c-3p	CLIP-seq
MIRT1302163	hsa-miR-3652	CLIP-seq
MIRT1302166	hsa-miR-3661	CLIP-seq
MIRT1302167	hsa-miR-3666	CLIP-seq
MIRT1302170	hsa-miR-3681	CLIP-seq
MIRT2089682	hsa-miR-3685	CLIP-seq
MIRT2089683	hsa-miR-3689a-3p	CLIP-seq
MIRT2089684	hsa-miR-3689c	CLIP-seq
MIRT1302172	hsa-miR-3690	CLIP-seq
MIRT2089685	hsa-miR-3929	CLIP-seq
MIRT2089686	hsa-miR-3977	CLIP-seq
MIRT2089687	hsa-miR-4255	CLIP-seq
MIRT1302180	hsa-miR-4264	CLIP-seq
MIRT2089688	hsa-miR-4266	CLIP-seq
MIRT1302181	hsa-miR-4271	CLIP-seq
MIRT1302182	hsa-miR-4274	CLIP-seq
MIRT2089689	hsa-miR-4276	CLIP-seq
MIRT2089690	hsa-miR-4279	CLIP-seq
MIRT1302186	hsa-miR-4295	CLIP-seq
MIRT2089691	hsa-miR-4305	CLIP-seq
MIRT1302188	hsa-miR-4307	CLIP-seq
MIRT1302191	hsa-miR-4330	CLIP-seq
MIRT2089692	hsa-miR-4419b	CLIP-seq
MIRT1302192	hsa-miR-4427	CLIP-seq
MIRT1302193	hsa-miR-4430	CLIP-seq
MIRT1302195	hsa-miR-4433	CLIP-seq
MIRT2089693	hsa-miR-4434	CLIP-seq
MIRT1302196	hsa-miR-4436a	CLIP-seq
MIRT2089694	hsa-miR-4438	CLIP-seq
MIRT2089695	hsa-miR-4453	CLIP-seq
MIRT1302200	hsa-miR-4460	CLIP-seq
MIRT2089696	hsa-miR-4465	CLIP-seq
MIRT2089697	hsa-miR-4478	CLIP-seq
MIRT2089698	hsa-miR-4482	CLIP-seq
MIRT2089699	hsa-miR-4516	CLIP-seq
MIRT1302208	hsa-miR-4519	CLIP-seq
MIRT2089700	hsa-miR-4531	CLIP-seq
MIRT2089701	hsa-miR-4538	CLIP-seq
MIRT1302210	hsa-miR-454	CLIP-seq
MIRT1302213	hsa-miR-4638-3p	CLIP-seq
MIRT1302214	hsa-miR-4642	CLIP-seq
MIRT2089702	hsa-miR-4659a-3p	CLIP-seq
MIRT2089703	hsa-miR-4659b-3p	CLIP-seq
MIRT2089704	hsa-miR-4661-5p	CLIP-seq
MIRT1302220	hsa-miR-4666-3p	CLIP-seq
MIRT1302221	hsa-miR-4667-5p	CLIP-seq
MIRT1302223	hsa-miR-4671-3p	CLIP-seq
MIRT2089705	hsa-miR-4677-5p	CLIP-seq
MIRT1302224	hsa-miR-4680-3p	CLIP-seq
MIRT1302225	hsa-miR-4680-5p	CLIP-seq
MIRT1302226	hsa-miR-4686	CLIP-seq
MIRT2089706	hsa-miR-4688	CLIP-seq
MIRT2089707	hsa-miR-4695-5p	CLIP-seq
MIRT1302228	hsa-miR-4700-3p	CLIP-seq
MIRT1302229	hsa-miR-4700-5p	CLIP-seq
MIRT2089708	hsa-miR-4704-5p	CLIP-seq
MIRT2089709	hsa-miR-4705	CLIP-seq
MIRT2089710	hsa-miR-4711-5p	CLIP-seq
MIRT2089711	hsa-miR-4722-3p	CLIP-seq
MIRT1302233	hsa-miR-4725-3p	CLIP-seq
MIRT2089712	hsa-miR-4726-3p	CLIP-seq
MIRT1302234	hsa-miR-4727-3p	CLIP-seq
MIRT2089713	hsa-miR-4728-5p	CLIP-seq
MIRT2089714	hsa-miR-4777-5p	CLIP-seq
MIRT2089715	hsa-miR-4779	CLIP-seq
MIRT2089716	hsa-miR-4797-3p	CLIP-seq
MIRT2089717	hsa-miR-4803	CLIP-seq
MIRT1302247	hsa-miR-485-5p	CLIP-seq
MIRT2089718	hsa-miR-487a	CLIP-seq
MIRT1302249	hsa-miR-495	CLIP-seq
MIRT2089719	hsa-miR-498	CLIP-seq
MIRT2089720	hsa-miR-5095	CLIP-seq
MIRT2089721	hsa-miR-516a-3p	CLIP-seq
MIRT2089722	hsa-miR-518d-5p	CLIP-seq
MIRT2089723	hsa-miR-519b-5p	CLIP-seq
MIRT2089724	hsa-miR-519c-5p	CLIP-seq
MIRT2089725	hsa-miR-520c-5p	CLIP-seq
MIRT2089726	hsa-miR-526a	CLIP-seq
MIRT2089727	hsa-miR-539	CLIP-seq
MIRT2089728	hsa-miR-548aa	CLIP-seq
MIRT1302266	hsa-miR-548p	CLIP-seq
MIRT1302270	hsa-miR-549	CLIP-seq
MIRT2089729	hsa-miR-562	CLIP-seq
MIRT2089730	hsa-miR-607	CLIP-seq
MIRT2089731	hsa-miR-620	CLIP-seq
MIRT1302279	hsa-miR-622	CLIP-seq
MIRT1302281	hsa-miR-631	CLIP-seq
MIRT1302282	hsa-miR-637	CLIP-seq
MIRT2089732	hsa-miR-651	CLIP-seq
MIRT1302283	hsa-miR-665	CLIP-seq
MIRT2089733	hsa-miR-890	CLIP-seq
MIRT2089734	hsa-miR-9	CLIP-seq
MIRT2089735	hsa-miR-942	CLIP-seq
MIRT2314598	hsa-let-7a	CLIP-seq
MIRT2314599	hsa-let-7b	CLIP-seq
MIRT2314600	hsa-let-7c	CLIP-seq
MIRT2314601	hsa-let-7d	CLIP-seq
MIRT2314602	hsa-let-7e	CLIP-seq
MIRT2314603	hsa-let-7f	CLIP-seq
MIRT2314604	hsa-let-7g	CLIP-seq
MIRT2314605	hsa-let-7i	CLIP-seq
MIRT2314606	hsa-miR-103a	CLIP-seq
MIRT2314607	hsa-miR-107	CLIP-seq
MIRT2089653	hsa-miR-1197	CLIP-seq
MIRT1302108	hsa-miR-122	CLIP-seq
MIRT1302113	hsa-miR-1245b-3p	CLIP-seq
MIRT2089654	hsa-miR-1270	CLIP-seq
MIRT2314608	hsa-miR-1271	CLIP-seq
MIRT2314609	hsa-miR-1272	CLIP-seq
MIRT1302116	hsa-miR-1273e	CLIP-seq
MIRT1302120	hsa-miR-1289	CLIP-seq
MIRT2089656	hsa-miR-1297	CLIP-seq
MIRT1302121	hsa-miR-1304	CLIP-seq
MIRT1302122	hsa-miR-1305	CLIP-seq
MIRT2314610	hsa-miR-146b-3p	CLIP-seq
MIRT2089659	hsa-miR-150	CLIP-seq
MIRT2314611	hsa-miR-15a	CLIP-seq
MIRT2314612	hsa-miR-15b	CLIP-seq
MIRT2314613	hsa-miR-16	CLIP-seq
MIRT1302132	hsa-miR-186	CLIP-seq
MIRT2089660	hsa-miR-1909	CLIP-seq
MIRT2089661	hsa-miR-1915	CLIP-seq
MIRT2089662	hsa-miR-192	CLIP-seq
MIRT2314614	hsa-miR-195	CLIP-seq
MIRT2314615	hsa-miR-196a	CLIP-seq
MIRT2314616	hsa-miR-196b	CLIP-seq
MIRT2089663	hsa-miR-1976	CLIP-seq
MIRT1302134	hsa-miR-2110	CLIP-seq
MIRT2314617	hsa-miR-2114	CLIP-seq
MIRT2089664	hsa-miR-2115	CLIP-seq
MIRT2089666	hsa-miR-215	CLIP-seq
MIRT2314618	hsa-miR-224	CLIP-seq
MIRT1302136	hsa-miR-23a	CLIP-seq
MIRT1302137	hsa-miR-23b	CLIP-seq
MIRT1302138	hsa-miR-23c	CLIP-seq
MIRT2314619	hsa-miR-24	CLIP-seq
MIRT2089668	hsa-miR-26a	CLIP-seq
MIRT2089669	hsa-miR-26b	CLIP-seq
MIRT2089671	hsa-miR-31	CLIP-seq
MIRT2089672	hsa-miR-3117-5p	CLIP-seq
MIRT1302143	hsa-miR-3133	CLIP-seq
MIRT1302144	hsa-miR-3135b	CLIP-seq
MIRT2089679	hsa-miR-3175	CLIP-seq
MIRT1302154	hsa-miR-3199	CLIP-seq
MIRT1302156	hsa-miR-330-3p	CLIP-seq
MIRT2089681	hsa-miR-34c-3p	CLIP-seq
MIRT1302163	hsa-miR-3652	CLIP-seq
MIRT2314620	hsa-miR-3660	CLIP-seq
MIRT2314621	hsa-miR-3680	CLIP-seq
MIRT1302170	hsa-miR-3681	CLIP-seq
MIRT2089682	hsa-miR-3685	CLIP-seq
MIRT2089683	hsa-miR-3689a-3p	CLIP-seq
MIRT2089684	hsa-miR-3689c	CLIP-seq
MIRT1302173	hsa-miR-377	CLIP-seq
MIRT2089685	hsa-miR-3929	CLIP-seq
MIRT1302178	hsa-miR-3974	CLIP-seq
MIRT2089686	hsa-miR-3977	CLIP-seq
MIRT2314622	hsa-miR-424	CLIP-seq
MIRT2089688	hsa-miR-4266	CLIP-seq
MIRT1302181	hsa-miR-4271	CLIP-seq
MIRT1302182	hsa-miR-4274	CLIP-seq
MIRT2089690	hsa-miR-4279	CLIP-seq
MIRT2314623	hsa-miR-4284	CLIP-seq
MIRT2314624	hsa-miR-4297	CLIP-seq
MIRT1302188	hsa-miR-4307	CLIP-seq
MIRT2314625	hsa-miR-4310	CLIP-seq
MIRT1302191	hsa-miR-4330	CLIP-seq
MIRT2089692	hsa-miR-4419b	CLIP-seq
MIRT1302192	hsa-miR-4427	CLIP-seq
MIRT1302193	hsa-miR-4430	CLIP-seq
MIRT1302194	hsa-miR-4431	CLIP-seq
MIRT1302195	hsa-miR-4433	CLIP-seq
MIRT1302196	hsa-miR-4436a	CLIP-seq
MIRT2089694	hsa-miR-4438	CLIP-seq
MIRT2314626	hsa-miR-4458	CLIP-seq
MIRT1302200	hsa-miR-4460	CLIP-seq
MIRT2089696	hsa-miR-4465	CLIP-seq
MIRT2089697	hsa-miR-4478	CLIP-seq
MIRT2314627	hsa-miR-4500	CLIP-seq
MIRT1302208	hsa-miR-4519	CLIP-seq
MIRT2314628	hsa-miR-4521	CLIP-seq
MIRT2314629	hsa-miR-4526	CLIP-seq
MIRT2314630	hsa-miR-4530	CLIP-seq
MIRT2314631	hsa-miR-4540	CLIP-seq
MIRT1302211	hsa-miR-4634	CLIP-seq
MIRT2314632	hsa-miR-4639-3p	CLIP-seq
MIRT1302224	hsa-miR-4680-3p	CLIP-seq
MIRT1302225	hsa-miR-4680-5p	CLIP-seq
MIRT2089706	hsa-miR-4688	CLIP-seq
MIRT2089707	hsa-miR-4695-5p	CLIP-seq
MIRT1302228	hsa-miR-4700-3p	CLIP-seq
MIRT2089708	hsa-miR-4704-5p	CLIP-seq
MIRT2089709	hsa-miR-4705	CLIP-seq
MIRT2089710	hsa-miR-4711-5p	CLIP-seq
MIRT2314633	hsa-miR-4712-3p	CLIP-seq
MIRT1302232	hsa-miR-4717-3p	CLIP-seq
MIRT2089711	hsa-miR-4722-3p	CLIP-seq
MIRT1302233	hsa-miR-4725-3p	CLIP-seq
MIRT2089712	hsa-miR-4726-3p	CLIP-seq
MIRT1302234	hsa-miR-4727-3p	CLIP-seq
MIRT2089713	hsa-miR-4728-5p	CLIP-seq
MIRT1302235	hsa-miR-4731-3p	CLIP-seq
MIRT1302241	hsa-miR-4761-5p	CLIP-seq
MIRT2314634	hsa-miR-4762-5p	CLIP-seq
MIRT2314635	hsa-miR-4763-5p	CLIP-seq
MIRT2314636	hsa-miR-4772-3p	CLIP-seq
MIRT2314637	hsa-miR-4775	CLIP-seq
MIRT2089715	hsa-miR-4779	CLIP-seq
MIRT1302246	hsa-miR-4801	CLIP-seq
MIRT1302247	hsa-miR-485-5p	CLIP-seq
MIRT2314638	hsa-miR-497	CLIP-seq
MIRT2089719	hsa-miR-498	CLIP-seq
MIRT2089720	hsa-miR-5095	CLIP-seq
MIRT2089721	hsa-miR-516a-3p	CLIP-seq
MIRT2314639	hsa-miR-532-5p	CLIP-seq
MIRT2089727	hsa-miR-539	CLIP-seq
MIRT1302253	hsa-miR-548ae	CLIP-seq
MIRT1302254	hsa-miR-548aj	CLIP-seq
MIRT1302256	hsa-miR-548am	CLIP-seq
MIRT1302268	hsa-miR-548x	CLIP-seq
MIRT1302270	hsa-miR-549	CLIP-seq
MIRT2089729	hsa-miR-562	CLIP-seq
MIRT2314640	hsa-miR-590-3p	CLIP-seq
MIRT2089730	hsa-miR-607	CLIP-seq
MIRT2089731	hsa-miR-620	CLIP-seq
MIRT1302279	hsa-miR-622	CLIP-seq
MIRT2314641	hsa-miR-634	CLIP-seq
MIRT2089732	hsa-miR-651	CLIP-seq
MIRT1302283	hsa-miR-665	CLIP-seq
MIRT2314642	hsa-miR-877	CLIP-seq
MIRT2314643	hsa-miR-96	CLIP-seq
MIRT2314644	hsa-miR-98	CLIP-seq
MIRT1302108	hsa-miR-122	CLIP-seq
MIRT2089656	hsa-miR-1297	CLIP-seq
MIRT2089657	hsa-miR-1343	CLIP-seq
MIRT2089662	hsa-miR-192	CLIP-seq
MIRT2089664	hsa-miR-2115	CLIP-seq
MIRT2089666	hsa-miR-215	CLIP-seq
MIRT2089668	hsa-miR-26a	CLIP-seq
MIRT2089669	hsa-miR-26b	CLIP-seq
MIRT2089670	hsa-miR-3074-5p	CLIP-seq
MIRT2089671	hsa-miR-31	CLIP-seq
MIRT2089672	hsa-miR-3117-5p	CLIP-seq
MIRT2089674	hsa-miR-3128	CLIP-seq
MIRT1302144	hsa-miR-3135b	CLIP-seq
MIRT2089679	hsa-miR-3175	CLIP-seq
MIRT2089681	hsa-miR-34c-3p	CLIP-seq
MIRT2089696	hsa-miR-4465	CLIP-seq
MIRT1302211	hsa-miR-4634	CLIP-seq
MIRT2089708	hsa-miR-4704-5p	CLIP-seq
MIRT2089711	hsa-miR-4722-3p	CLIP-seq
MIRT2314635	hsa-miR-4763-5p	CLIP-seq
MIRT2089721	hsa-miR-516a-3p	CLIP-seq
MIRT2458084	hsa-miR-1273f	CLIP-seq
MIRT2089675	hsa-miR-3130-3p	CLIP-seq
MIRT2089676	hsa-miR-3130-5p	CLIP-seq
MIRT2089678	hsa-miR-3140-3p	CLIP-seq
MIRT2458085	hsa-miR-3149	CLIP-seq
MIRT2458086	hsa-miR-411	CLIP-seq
MIRT2089698	hsa-miR-4482	CLIP-seq
MIRT2458087	hsa-miR-4753-3p	CLIP-seq
MIRT2314637	hsa-miR-4775	CLIP-seq
MIRT2314640	hsa-miR-590-3p	CLIP-seq
MIRT1302108	hsa-miR-122	CLIP-seq
MIRT1302109	hsa-miR-1225-3p	CLIP-seq
MIRT1302111	hsa-miR-1233	CLIP-seq
MIRT2610965	hsa-miR-1245b-5p	CLIP-seq
MIRT2610966	hsa-miR-1285	CLIP-seq
MIRT2089656	hsa-miR-1297	CLIP-seq
MIRT1302125	hsa-miR-1321	CLIP-seq
MIRT2089657	hsa-miR-1343	CLIP-seq
MIRT2089661	hsa-miR-1915	CLIP-seq
MIRT2089662	hsa-miR-192	CLIP-seq
MIRT2089663	hsa-miR-1976	CLIP-seq
MIRT1302134	hsa-miR-2110	CLIP-seq
MIRT2089666	hsa-miR-215	CLIP-seq
MIRT1302136	hsa-miR-23a	CLIP-seq
MIRT1302137	hsa-miR-23b	CLIP-seq
MIRT1302138	hsa-miR-23c	CLIP-seq
MIRT2089668	hsa-miR-26a	CLIP-seq
MIRT2089669	hsa-miR-26b	CLIP-seq
MIRT2089670	hsa-miR-3074-5p	CLIP-seq
MIRT2089671	hsa-miR-31	CLIP-seq
MIRT2089672	hsa-miR-3117-5p	CLIP-seq
MIRT2089674	hsa-miR-3128	CLIP-seq
MIRT2089675	hsa-miR-3130-3p	CLIP-seq
MIRT2089676	hsa-miR-3130-5p	CLIP-seq
MIRT1302144	hsa-miR-3135b	CLIP-seq
MIRT2610967	hsa-miR-3142	CLIP-seq
MIRT2610968	hsa-miR-3143	CLIP-seq
MIRT1302146	hsa-miR-3145-5p	CLIP-seq
MIRT2458085	hsa-miR-3149	CLIP-seq
MIRT1302148	hsa-miR-3151	CLIP-seq
MIRT1302149	hsa-miR-3162-5p	CLIP-seq
MIRT1302150	hsa-miR-3165	CLIP-seq
MIRT2089679	hsa-miR-3175	CLIP-seq
MIRT2610969	hsa-miR-3187-5p	CLIP-seq
MIRT2089681	hsa-miR-34c-3p	CLIP-seq
MIRT2610970	hsa-miR-3612	CLIP-seq
MIRT1302163	hsa-miR-3652	CLIP-seq
MIRT2314621	hsa-miR-3680	CLIP-seq
MIRT2610971	hsa-miR-3921	CLIP-seq
MIRT2610972	hsa-miR-4251	CLIP-seq
MIRT1302181	hsa-miR-4271	CLIP-seq
MIRT2089690	hsa-miR-4279	CLIP-seq
MIRT2610973	hsa-miR-4329	CLIP-seq
MIRT1302193	hsa-miR-4430	CLIP-seq
MIRT1302194	hsa-miR-4431	CLIP-seq
MIRT1302198	hsa-miR-4456	CLIP-seq
MIRT1302201	hsa-miR-4463	CLIP-seq
MIRT2089696	hsa-miR-4465	CLIP-seq
MIRT2089698	hsa-miR-4482	CLIP-seq
MIRT2610974	hsa-miR-4496	CLIP-seq
MIRT1302211	hsa-miR-4634	CLIP-seq
MIRT2610975	hsa-miR-4653-5p	CLIP-seq
MIRT2089708	hsa-miR-4704-5p	CLIP-seq
MIRT1302232	hsa-miR-4717-3p	CLIP-seq
MIRT2089711	hsa-miR-4722-3p	CLIP-seq
MIRT1302233	hsa-miR-4725-3p	CLIP-seq
MIRT2089712	hsa-miR-4726-3p	CLIP-seq
MIRT2610976	hsa-miR-4738-3p	CLIP-seq
MIRT1302236	hsa-miR-4739	CLIP-seq
MIRT1302237	hsa-miR-4747-5p	CLIP-seq
MIRT1302240	hsa-miR-4756-5p	CLIP-seq
MIRT2610977	hsa-miR-4764-3p	CLIP-seq
MIRT2314636	hsa-miR-4772-3p	CLIP-seq
MIRT2314637	hsa-miR-4775	CLIP-seq
MIRT2089717	hsa-miR-4803	CLIP-seq
MIRT1302247	hsa-miR-485-5p	CLIP-seq
MIRT2089719	hsa-miR-498	CLIP-seq
MIRT2089727	hsa-miR-539	CLIP-seq
MIRT1302250	hsa-miR-541	CLIP-seq
MIRT2314640	hsa-miR-590-3p	CLIP-seq
MIRT2610978	hsa-miR-612	CLIP-seq
MIRT2610979	hsa-miR-650	CLIP-seq
MIRT2610980	hsa-miR-661	CLIP-seq
MIRT2610965	hsa-miR-1245b-5p	CLIP-seq
MIRT2314608	hsa-miR-1271	CLIP-seq
MIRT1302116	hsa-miR-1273e	CLIP-seq
MIRT2610966	hsa-miR-1285	CLIP-seq
MIRT1302120	hsa-miR-1289	CLIP-seq
MIRT1302121	hsa-miR-1304	CLIP-seq
MIRT1302129	hsa-miR-182	CLIP-seq
MIRT2089661	hsa-miR-1915	CLIP-seq
MIRT2610967	hsa-miR-3142	CLIP-seq
MIRT2610969	hsa-miR-3187-5p	CLIP-seq
MIRT2314621	hsa-miR-3680	CLIP-seq
MIRT2089683	hsa-miR-3689a-3p	CLIP-seq
MIRT2089684	hsa-miR-3689c	CLIP-seq
MIRT2089685	hsa-miR-3929	CLIP-seq
MIRT2089688	hsa-miR-4266	CLIP-seq
MIRT2089692	hsa-miR-4419b	CLIP-seq
MIRT1302194	hsa-miR-4431	CLIP-seq
MIRT1302195	hsa-miR-4433	CLIP-seq
MIRT2089697	hsa-miR-4478	CLIP-seq
MIRT1302211	hsa-miR-4634	CLIP-seq
MIRT2089707	hsa-miR-4695-5p	CLIP-seq
MIRT2089712	hsa-miR-4726-3p	CLIP-seq
MIRT2089713	hsa-miR-4728-5p	CLIP-seq
MIRT2610976	hsa-miR-4738-3p	CLIP-seq
MIRT2314636	hsa-miR-4772-3p	CLIP-seq
MIRT2314637	hsa-miR-4775	CLIP-seq
MIRT2089715	hsa-miR-4779	CLIP-seq
MIRT1302247	hsa-miR-485-5p	CLIP-seq
MIRT2314640	hsa-miR-590-3p	CLIP-seq
MIRT2610978	hsa-miR-612	CLIP-seq
MIRT2089732	hsa-miR-651	CLIP-seq
MIRT2610980	hsa-miR-661	CLIP-seq
MIRT1302283	hsa-miR-665	CLIP-seq
MIRT2314643	hsa-miR-96	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	26474068, 28575657, 28575658
GO:0000724	Process	Double-strand break repair via homologous recombination	IMP	28691929
GO:0002039	Function	P53 binding	IPI	20173098
GO:0004842	Function	Ubiquitin-protein transferase activity	IEA
GO:0005515	Function	Protein binding	IPI	19549727, 20173098, 21504906, 24126761, 25260751, 28575657, 28575658, 28691929
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	20173098
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	IMP	28691929
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006974	Process	DNA damage response	IDA	26474068, 28575657, 28575658
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0010212	Process	Response to ionizing radiation	IDA	20173098
GO:0016567	Process	Protein ubiquitination	IBA
GO:0016567	Process	Protein ubiquitination	IDA	20173098, 26474068, 28575657, 28575658
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016605	Component	PML body	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0031297	Process	Replication fork processing	IBA
GO:0031297	Process	Replication fork processing	IDA	26474068
GO:0031571	Process	Mitotic G1 DNA damage checkpoint signaling	IMP	20173098
GO:0035861	Component	Site of double-strand break	IDA	21504906
GO:0036297	Process	Interstrand cross-link repair	IDA	33321094
GO:0036297	Process	Interstrand cross-link repair	IEA
GO:0036297	Process	Interstrand cross-link repair	IMP	28575657, 28575658
GO:0046872	Function	Metal ion binding	IEA
GO:0061630	Function	Ubiquitin protein ligase activity	IBA
GO:0061630	Function	Ubiquitin protein ligase activity	IDA	20173098, 26474068, 28575657, 28575658
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0090734	Component	Site of DNA damage	IBA
GO:0090734	Component	Site of DNA damage	IDA	28575657, 28575658
GO:0097371	Function	MDM2/MDM4 family protein binding	IPI	20173098
GO:2000001	Process	Regulation of DNA damage checkpoint	IMP	21504906

Other IDs

• MIM: 614151
• HGNC: 25539
• e!Ensembl: ENSG00000168411

Protein

• UniProt ID: Q6PCD5
• Protein name: E3 ubiquitin-protein ligase RFWD3 (EC 2.3.2.27) (RING finger and WD repeat domain-containing protein 3) (RING finger protein 201)
• Protein function: E3 ubiquitin-protein ligase required for the repair of DNA interstrand cross-links (ICL) in response to DNA damage (PubMed:21504906, PubMed:21558276, PubMed:26474068, PubMed:28575657, PubMed:28575658, PubMed:33321094). Plays a key role in RPA-me
• PDB: 6CVZ
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13639	zf-RING_2	285 → 331	Ring finger domain	Domain

• Sequence:

  MAHEAMEYDVQVQLNHAEQQPAPAGMASSQGGPALLQPVPADVVSSQGVPSILQPAPAEV
  ISSQATPPLLQPAPQLSVDLTEVEVLGEDTVENINPRTSEQHRQGSDGNHTIPASSLHSM
  TNFISGLQRLHGMLEFLRPSSSNHSVGPMRTRRRVSASRRARAGGSQRTDSARLRAPLDA
  YFQVSRTQPDLPATTYDSETRNPVSEELQVSSSSDSDSDSSAEYGGVVDQAEESGAVILE
  EQLAGVSAEQEVTCIDGGKTLPKQPSPQKSEPLLPSASMDEEEGDTCTICLEQWTNAGDH
  RLSALRCGHLFGYRCISTWLKGQVRKCPQCNKKARHSDIVVLYARTLRALDTSEQERMKS
  SLLKEQMLRKQAELESAQCRLQLQVLTDKCTRLQRRVQDLQKLTSHQSQNLQQPRGSQAW
  VLSCSPSSQGQHKHKYHFQKTFTVSQAGNCRIMAYCDALSCLVISQPSPQASFLPGFGVK
  MLSTANMKSSQYIPMHGKQIRGLAFSSYLRGLLLSASLDNTIKLTSLETNTVVQTYNAGR
  PVWSCCWCLDEANYIYAGLANGSILVYDVRNTSSHVQELVAQKARCPLVSLSYMPRAASA
  AFPYGGVLAGTLEDASFWEQKMDFSHWPHVLPLEPGGCIDFQTENSSRHCLVTYRPDKNH
  TTIRSVLMEMSYRLDDTGNPICSCQPVHTFFGGPTCKLLTKNAIFQSPENDGNILVCTGD
  EAANSALLWDAASGSLLQDLQTDQPVLDICPFEVNRNSYLATLTEKMVHIYKWE

• Sequence length: 774

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
Fanconi anemia, complementation group W	Pathogenic	rs1555524842	RCV000515641	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
FANCONI ANEMIA	—	Disgenet, Orphanet Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GILLES DE LA TOURETTE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RFWD3-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TESTICULAR GERM CELL TUMOR	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anemia Hemolytic	Hemolytic anemia	Pubtator	32866285	Associate	★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arnold Chiari Malformation	Arnold-Chiari malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Astigmatism	Astigmatism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	HPO_DG			★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cafe au lait spots, multiple	Cafe-au-lait spot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Choanal Atresia	Choanal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital Epicanthus	Congenital Epicanthus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital exomphalos	Congenital Exomphalos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of radius	Congenital Hypoplasia Of Radius	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranial nerve palsies	Cranial Nerve Paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exophthalmos	Proptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	28575657, 28691929		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi anemia	Pubtator	28575657, 37036693	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi Anemia	Fanconi Anemia	ORPHANET_DG	28691929		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fanconi anemia	Fanconi Anemia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)	Anemia	BEFREE	28575657, 28691929		★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP W	Anemia	UNIPROT_DG	28575657, 28691929		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FANCONI ANEMIA, COMPLEMENTATION GROUP W	Anemia	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated somatotropin deficiency	Isolated Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Long narrow head	Dolichocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Meckel Diverticulum	Meckel Diverticulum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	GWASCAT_DG	27363682		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	31571161		★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polysplenia	Polysplenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Somatotropin deficiency	Somatotropin Deficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spina Bifida	Spina Bifida	HPO_DG			★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of fingers	Syndactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	BEFREE	23666239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	CTD_human_DG	23666239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASDB_DG	23666239		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Germ Cell Tumor	Testicular Germ Cell Tumor	GWASCAT_DG	28604728, 28604732		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Testicular Neoplasms	Testicular Neoplasms	GWASCAT_DG	23666239		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Thumb aplasia	Thumb Aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only