RNF216 (ring finger protein 216)

Gene

• Entrez ID: 54476
• Gene name: Ring finger protein 216
• Gene symbol: RNF216
• Synonyms (NCBI Gene): CAHH, TRIAD3, U7I1, UBCE7IP1, ZIN
• Chromosome: 7
• Chromosome location: 7p22.1
• Summary: This gene encodes a cytoplasmic protein which specifically colocalizes and interacts with the serine/threonine protein kinase, receptor-interacting protein (RIP). Zinc finger domains of the encoded protein are required for its interaction with RIP and for

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141050143	G>A	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, missense variant
rs148642312	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs373785974	G>A,C	Pathogenic	5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs387907368	G>A	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs387907369	A>T	Pathogenic	Coding sequence variant, stop gained
rs387907370	CT>-	Pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs794728000	C>T	Pathogenic	Coding sequence variant, missense variant
rs1562451985	C>G	Pathogenic	Splice acceptor variant, intron variant
rs1584549575	C>-	Pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT044679	hsa-miR-320a	CLASH	23622248
MIRT037895	hsa-miR-455-3p	CLASH	23622248
MIRT706668	hsa-miR-3155a	HITS-CLIP	21572407
MIRT706667	hsa-miR-3155b	HITS-CLIP	21572407
MIRT706666	hsa-miR-484	HITS-CLIP	21572407
MIRT706665	hsa-miR-5693	HITS-CLIP	21572407
MIRT706664	hsa-miR-6499-3p	HITS-CLIP	21572407
MIRT706663	hsa-miR-3934-3p	HITS-CLIP	21572407
MIRT706662	hsa-miR-3135b	HITS-CLIP	21572407
MIRT706661	hsa-miR-3140-3p	HITS-CLIP	21572407
MIRT706660	hsa-miR-504-3p	HITS-CLIP	21572407
MIRT706659	hsa-miR-122-5p	HITS-CLIP	21572407
MIRT706658	hsa-miR-3652	HITS-CLIP	21572407
MIRT706657	hsa-miR-4430	HITS-CLIP	21572407
MIRT706656	hsa-miR-143-5p	HITS-CLIP	21572407
MIRT706655	hsa-miR-891a-3p	HITS-CLIP	21572407
MIRT706654	hsa-miR-1178-3p	HITS-CLIP	21572407
MIRT706653	hsa-miR-744-3p	HITS-CLIP	21572407
MIRT706652	hsa-miR-5698	HITS-CLIP	21572407
MIRT676530	hsa-miR-619-3p	HITS-CLIP	23824327
MIRT676529	hsa-miR-7851-3p	HITS-CLIP	23824327
MIRT676528	hsa-miR-8062	HITS-CLIP	23824327
MIRT676527	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT676526	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT676525	hsa-miR-4324	HITS-CLIP	23824327
MIRT676524	hsa-miR-544b	HITS-CLIP	23824327
MIRT676523	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT676522	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT676521	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT676520	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676519	hsa-miR-1976	HITS-CLIP	23824327
MIRT676518	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT676517	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT676516	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT676515	hsa-miR-1297	HITS-CLIP	23824327
MIRT676514	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT676513	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT676512	hsa-miR-4465	HITS-CLIP	23824327
MIRT676511	hsa-miR-1200	HITS-CLIP	23824327
MIRT676510	hsa-miR-4279	HITS-CLIP	23824327
MIRT676509	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT439759	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT439758	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439757	hsa-miR-376a-3p	HITS-CLIP	24374217
MIRT439759	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT726728	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT726726	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT726727	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT726725	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT726724	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT726723	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT439758	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT439757	hsa-miR-376a-3p	HITS-CLIP	24374217
MIRT706668	hsa-miR-3155a	HITS-CLIP	21572407
MIRT706667	hsa-miR-3155b	HITS-CLIP	21572407
MIRT706666	hsa-miR-484	HITS-CLIP	21572407
MIRT706665	hsa-miR-5693	HITS-CLIP	21572407
MIRT706664	hsa-miR-6499-3p	HITS-CLIP	21572407
MIRT706663	hsa-miR-3934-3p	HITS-CLIP	21572407
MIRT706662	hsa-miR-3135b	HITS-CLIP	21572407
MIRT706661	hsa-miR-3140-3p	HITS-CLIP	21572407
MIRT706660	hsa-miR-504-3p	HITS-CLIP	21572407
MIRT706659	hsa-miR-122-5p	HITS-CLIP	21572407
MIRT706658	hsa-miR-3652	HITS-CLIP	21572407
MIRT706657	hsa-miR-4430	HITS-CLIP	21572407
MIRT706656	hsa-miR-143-5p	HITS-CLIP	21572407
MIRT706655	hsa-miR-891a-3p	HITS-CLIP	21572407
MIRT706654	hsa-miR-1178-3p	HITS-CLIP	21572407
MIRT706653	hsa-miR-744-3p	HITS-CLIP	21572407
MIRT706652	hsa-miR-5698	HITS-CLIP	21572407
MIRT676530	hsa-miR-619-3p	HITS-CLIP	23824327
MIRT676529	hsa-miR-7851-3p	HITS-CLIP	23824327
MIRT676528	hsa-miR-8062	HITS-CLIP	23824327
MIRT676527	hsa-miR-6513-3p	HITS-CLIP	23824327
MIRT676526	hsa-miR-660-3p	HITS-CLIP	23824327
MIRT676525	hsa-miR-4324	HITS-CLIP	23824327
MIRT676524	hsa-miR-544b	HITS-CLIP	23824327
MIRT676523	hsa-miR-4722-3p	HITS-CLIP	23824327
MIRT676522	hsa-miR-6727-3p	HITS-CLIP	23824327
MIRT676521	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT676520	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT676519	hsa-miR-1976	HITS-CLIP	23824327
MIRT676518	hsa-miR-619-5p	HITS-CLIP	23824327
MIRT676517	hsa-miR-6506-5p	HITS-CLIP	23824327
MIRT676516	hsa-miR-1911-5p	HITS-CLIP	23824327
MIRT676515	hsa-miR-1297	HITS-CLIP	23824327
MIRT676514	hsa-miR-26a-5p	HITS-CLIP	23824327
MIRT676513	hsa-miR-26b-5p	HITS-CLIP	23824327
MIRT676512	hsa-miR-4465	HITS-CLIP	23824327
MIRT676511	hsa-miR-1200	HITS-CLIP	23824327
MIRT676510	hsa-miR-4279	HITS-CLIP	23824327
MIRT676509	hsa-miR-5089-5p	HITS-CLIP	23824327
MIRT1312181	hsa-miR-23a	CLIP-seq
MIRT1312182	hsa-miR-23b	CLIP-seq
MIRT1312183	hsa-miR-23c	CLIP-seq
MIRT1312184	hsa-miR-3154	CLIP-seq
MIRT1312185	hsa-miR-3184	CLIP-seq
MIRT1312186	hsa-miR-423-5p	CLIP-seq
MIRT1312187	hsa-miR-4688	CLIP-seq
MIRT1312188	hsa-miR-4717-3p	CLIP-seq
MIRT1312189	hsa-miR-4728-5p	CLIP-seq
MIRT1312190	hsa-miR-4737	CLIP-seq
MIRT1312191	hsa-miR-486-3p	CLIP-seq
MIRT1312192	hsa-miR-1236	CLIP-seq
MIRT1312193	hsa-miR-124	CLIP-seq
MIRT1312194	hsa-miR-1246	CLIP-seq
MIRT1312195	hsa-miR-1254	CLIP-seq
MIRT1312196	hsa-miR-1302	CLIP-seq
MIRT1312197	hsa-miR-130a	CLIP-seq
MIRT1312198	hsa-miR-130b	CLIP-seq
MIRT1312199	hsa-miR-145	CLIP-seq
MIRT1312200	hsa-miR-19a	CLIP-seq
MIRT1312201	hsa-miR-19b	CLIP-seq
MIRT1312202	hsa-miR-204	CLIP-seq
MIRT1312203	hsa-miR-211	CLIP-seq
MIRT1312204	hsa-miR-2355-3p	CLIP-seq
MIRT1312181	hsa-miR-23a	CLIP-seq
MIRT1312182	hsa-miR-23b	CLIP-seq
MIRT1312183	hsa-miR-23c	CLIP-seq
MIRT1312205	hsa-miR-2682	CLIP-seq
MIRT1312206	hsa-miR-28-3p	CLIP-seq
MIRT1312207	hsa-miR-300	CLIP-seq
MIRT1312208	hsa-miR-301a	CLIP-seq
MIRT1312209	hsa-miR-301b	CLIP-seq
MIRT1312210	hsa-miR-302a	CLIP-seq
MIRT1312211	hsa-miR-302b	CLIP-seq
MIRT1312212	hsa-miR-302c	CLIP-seq
MIRT1312213	hsa-miR-302d	CLIP-seq
MIRT1312214	hsa-miR-302e	CLIP-seq
MIRT1312215	hsa-miR-3116	CLIP-seq
MIRT1312216	hsa-miR-3122	CLIP-seq
MIRT1312217	hsa-miR-3129-3p	CLIP-seq
MIRT1312184	hsa-miR-3154	CLIP-seq
MIRT1312218	hsa-miR-3155	CLIP-seq
MIRT1312219	hsa-miR-3183	CLIP-seq
MIRT1312185	hsa-miR-3184	CLIP-seq
MIRT1312220	hsa-miR-325	CLIP-seq
MIRT1312221	hsa-miR-3609	CLIP-seq
MIRT1312222	hsa-miR-3666	CLIP-seq
MIRT1312223	hsa-miR-3714	CLIP-seq
MIRT1312224	hsa-miR-371-5p	CLIP-seq
MIRT1312225	hsa-miR-372	CLIP-seq
MIRT1312226	hsa-miR-373	CLIP-seq
MIRT1312227	hsa-miR-381	CLIP-seq
MIRT1312228	hsa-miR-3910	CLIP-seq
MIRT1312229	hsa-miR-3913-5p	CLIP-seq
MIRT1312230	hsa-miR-3925-3p	CLIP-seq
MIRT1312231	hsa-miR-411	CLIP-seq
MIRT1312186	hsa-miR-423-5p	CLIP-seq
MIRT1312232	hsa-miR-4269	CLIP-seq
MIRT1312233	hsa-miR-4283	CLIP-seq
MIRT1312234	hsa-miR-4295	CLIP-seq
MIRT1312235	hsa-miR-4298	CLIP-seq
MIRT1312236	hsa-miR-4328	CLIP-seq
MIRT1312237	hsa-miR-4474-3p	CLIP-seq
MIRT1312238	hsa-miR-4477b	CLIP-seq
MIRT1312239	hsa-miR-4489	CLIP-seq
MIRT1312240	hsa-miR-449c	CLIP-seq
MIRT1312241	hsa-miR-4505	CLIP-seq
MIRT1312242	hsa-miR-4514	CLIP-seq
MIRT1312243	hsa-miR-454	CLIP-seq
MIRT1312244	hsa-miR-4645-5p	CLIP-seq
MIRT1312245	hsa-miR-4646-3p	CLIP-seq
MIRT1312246	hsa-miR-4652-5p	CLIP-seq
MIRT1312247	hsa-miR-4666-3p	CLIP-seq
MIRT1312248	hsa-miR-4673	CLIP-seq
MIRT1312249	hsa-miR-4675	CLIP-seq
MIRT1312187	hsa-miR-4688	CLIP-seq
MIRT1312250	hsa-miR-4692	CLIP-seq
MIRT1312251	hsa-miR-4707-3p	CLIP-seq
MIRT1312188	hsa-miR-4717-3p	CLIP-seq
MIRT1312252	hsa-miR-4722-5p	CLIP-seq
MIRT1312253	hsa-miR-4723-3p	CLIP-seq
MIRT1312189	hsa-miR-4728-5p	CLIP-seq
MIRT1312190	hsa-miR-4737	CLIP-seq
MIRT1312254	hsa-miR-4741	CLIP-seq
MIRT1312255	hsa-miR-4742-5p	CLIP-seq
MIRT1312256	hsa-miR-4789-5p	CLIP-seq
MIRT1312257	hsa-miR-4795-3p	CLIP-seq
MIRT1312258	hsa-miR-4800-3p	CLIP-seq
MIRT1312259	hsa-miR-483-5p	CLIP-seq
MIRT1312191	hsa-miR-486-3p	CLIP-seq
MIRT1312260	hsa-miR-506	CLIP-seq
MIRT1312261	hsa-miR-519a	CLIP-seq
MIRT1312262	hsa-miR-519b-3p	CLIP-seq
MIRT1312263	hsa-miR-519c-3p	CLIP-seq
MIRT1312264	hsa-miR-520a-3p	CLIP-seq
MIRT1312265	hsa-miR-520b	CLIP-seq
MIRT1312266	hsa-miR-520c-3p	CLIP-seq
MIRT1312267	hsa-miR-520d-3p	CLIP-seq
MIRT1312268	hsa-miR-520d-5p	CLIP-seq
MIRT1312269	hsa-miR-520e	CLIP-seq
MIRT1312270	hsa-miR-520g	CLIP-seq
MIRT1312271	hsa-miR-520h	CLIP-seq
MIRT1312272	hsa-miR-524-5p	CLIP-seq
MIRT1312273	hsa-miR-542-3p	CLIP-seq
MIRT1312274	hsa-miR-548ah	CLIP-seq
MIRT1312275	hsa-miR-548p	CLIP-seq
MIRT1312276	hsa-miR-578	CLIP-seq
MIRT1312277	hsa-miR-661	CLIP-seq
MIRT1312278	hsa-miR-665	CLIP-seq
MIRT1312279	hsa-miR-676	CLIP-seq
MIRT1312280	hsa-miR-766	CLIP-seq
MIRT1312281	hsa-miR-888	CLIP-seq
MIRT1312282	hsa-miR-940	CLIP-seq
MIRT2092787	hsa-miR-1178	CLIP-seq
MIRT2092788	hsa-miR-122	CLIP-seq
MIRT2092789	hsa-miR-1226	CLIP-seq
MIRT2092790	hsa-miR-1291	CLIP-seq
MIRT2092791	hsa-miR-1915	CLIP-seq
MIRT2092792	hsa-miR-1972	CLIP-seq
MIRT2092793	hsa-miR-24	CLIP-seq
MIRT2092794	hsa-miR-26a	CLIP-seq
MIRT2092795	hsa-miR-26b	CLIP-seq
MIRT1312218	hsa-miR-3155	CLIP-seq
MIRT2092796	hsa-miR-3160-3p	CLIP-seq
MIRT2092797	hsa-miR-3173-5p	CLIP-seq
MIRT2092798	hsa-miR-3189-3p	CLIP-seq
MIRT1312223	hsa-miR-3714	CLIP-seq
MIRT2092799	hsa-miR-378	CLIP-seq
MIRT2092800	hsa-miR-378b	CLIP-seq
MIRT2092801	hsa-miR-378c	CLIP-seq
MIRT2092802	hsa-miR-378d	CLIP-seq
MIRT2092803	hsa-miR-378e	CLIP-seq
MIRT2092804	hsa-miR-378f	CLIP-seq
MIRT2092805	hsa-miR-378h	CLIP-seq
MIRT2092806	hsa-miR-378i	CLIP-seq
MIRT2092807	hsa-miR-422a	CLIP-seq
MIRT2092808	hsa-miR-4284	CLIP-seq
MIRT1312236	hsa-miR-4328	CLIP-seq
MIRT2092809	hsa-miR-4438	CLIP-seq
MIRT2092810	hsa-miR-4487	CLIP-seq
MIRT2092811	hsa-miR-4520a-3p	CLIP-seq
MIRT2092812	hsa-miR-4525	CLIP-seq
MIRT2092813	hsa-miR-4638-3p	CLIP-seq
MIRT2092814	hsa-miR-4640-5p	CLIP-seq
MIRT2092815	hsa-miR-4650-5p	CLIP-seq
MIRT2092816	hsa-miR-4656	CLIP-seq
MIRT2092817	hsa-miR-4726-3p	CLIP-seq
MIRT2092818	hsa-miR-4726-5p	CLIP-seq
MIRT2092819	hsa-miR-4755-3p	CLIP-seq
MIRT2092820	hsa-miR-4772-3p	CLIP-seq
MIRT2092821	hsa-miR-5095	CLIP-seq
MIRT2092822	hsa-miR-515-3p	CLIP-seq
MIRT2092823	hsa-miR-519e	CLIP-seq
MIRT2092824	hsa-miR-558	CLIP-seq
MIRT2092787	hsa-miR-1178	CLIP-seq
MIRT2317364	hsa-miR-1207-5p	CLIP-seq
MIRT2092788	hsa-miR-122	CLIP-seq
MIRT2092789	hsa-miR-1226	CLIP-seq
MIRT2317365	hsa-miR-1234	CLIP-seq
MIRT1312194	hsa-miR-1246	CLIP-seq
MIRT2317366	hsa-miR-1265	CLIP-seq
MIRT2317367	hsa-miR-1275	CLIP-seq
MIRT2317368	hsa-miR-1285	CLIP-seq
MIRT2092790	hsa-miR-1291	CLIP-seq
MIRT1312196	hsa-miR-1302	CLIP-seq
MIRT2317369	hsa-miR-136	CLIP-seq
MIRT2317370	hsa-miR-1911	CLIP-seq
MIRT2317371	hsa-miR-1913	CLIP-seq
MIRT2092791	hsa-miR-1915	CLIP-seq
MIRT2092792	hsa-miR-1972	CLIP-seq
MIRT2317372	hsa-miR-2392	CLIP-seq
MIRT2092793	hsa-miR-24	CLIP-seq
MIRT1312205	hsa-miR-2682	CLIP-seq
MIRT2092794	hsa-miR-26a	CLIP-seq
MIRT2092795	hsa-miR-26b	CLIP-seq
MIRT1312210	hsa-miR-302a	CLIP-seq
MIRT1312211	hsa-miR-302b	CLIP-seq
MIRT1312212	hsa-miR-302c	CLIP-seq
MIRT1312213	hsa-miR-302d	CLIP-seq
MIRT1312214	hsa-miR-302e	CLIP-seq
MIRT2317373	hsa-miR-3119	CLIP-seq
MIRT1312216	hsa-miR-3122	CLIP-seq
MIRT1312218	hsa-miR-3155	CLIP-seq
MIRT2092797	hsa-miR-3173-5p	CLIP-seq
MIRT2317374	hsa-miR-3178	CLIP-seq
MIRT2317375	hsa-miR-3187-5p	CLIP-seq
MIRT2092798	hsa-miR-3189-3p	CLIP-seq
MIRT2317376	hsa-miR-324-3p	CLIP-seq
MIRT2317377	hsa-miR-326	CLIP-seq
MIRT2317378	hsa-miR-328	CLIP-seq
MIRT2317379	hsa-miR-329	CLIP-seq
MIRT2317380	hsa-miR-330-5p	CLIP-seq
MIRT2317381	hsa-miR-331-3p	CLIP-seq
MIRT2317382	hsa-miR-362-3p	CLIP-seq
MIRT2317383	hsa-miR-3688-5p	CLIP-seq
MIRT1312224	hsa-miR-371-5p	CLIP-seq
MIRT1312225	hsa-miR-372	CLIP-seq
MIRT1312226	hsa-miR-373	CLIP-seq
MIRT2092799	hsa-miR-378	CLIP-seq
MIRT2092800	hsa-miR-378b	CLIP-seq
MIRT2092801	hsa-miR-378c	CLIP-seq
MIRT2092802	hsa-miR-378d	CLIP-seq
MIRT2092803	hsa-miR-378e	CLIP-seq
MIRT2092804	hsa-miR-378f	CLIP-seq
MIRT2317384	hsa-miR-378g	CLIP-seq
MIRT2092805	hsa-miR-378h	CLIP-seq
MIRT2092806	hsa-miR-378i	CLIP-seq
MIRT1312229	hsa-miR-3913-5p	CLIP-seq
MIRT2317385	hsa-miR-3941	CLIP-seq
MIRT2092807	hsa-miR-422a	CLIP-seq
MIRT1312232	hsa-miR-4269	CLIP-seq
MIRT2317386	hsa-miR-4281	CLIP-seq
MIRT2092808	hsa-miR-4284	CLIP-seq
MIRT2317387	hsa-miR-4291	CLIP-seq
MIRT2317388	hsa-miR-4297	CLIP-seq
MIRT1312235	hsa-miR-4298	CLIP-seq
MIRT2317389	hsa-miR-4437	CLIP-seq
MIRT2092809	hsa-miR-4438	CLIP-seq
MIRT2317390	hsa-miR-4486	CLIP-seq
MIRT1312240	hsa-miR-449c	CLIP-seq
MIRT1312242	hsa-miR-4514	CLIP-seq
MIRT2092811	hsa-miR-4520a-3p	CLIP-seq
MIRT2092812	hsa-miR-4525	CLIP-seq
MIRT2092813	hsa-miR-4638-3p	CLIP-seq
MIRT2317391	hsa-miR-4639-3p	CLIP-seq
MIRT2092815	hsa-miR-4650-5p	CLIP-seq
MIRT2317392	hsa-miR-4651	CLIP-seq
MIRT2317393	hsa-miR-466	CLIP-seq
MIRT2317394	hsa-miR-4660	CLIP-seq
MIRT2317395	hsa-miR-4665-5p	CLIP-seq
MIRT2317396	hsa-miR-4672	CLIP-seq
MIRT2317397	hsa-miR-4674	CLIP-seq
MIRT1312250	hsa-miR-4692	CLIP-seq
MIRT1312251	hsa-miR-4707-3p	CLIP-seq
MIRT2317398	hsa-miR-4723-5p	CLIP-seq
MIRT2092817	hsa-miR-4726-3p	CLIP-seq
MIRT1312189	hsa-miR-4728-5p	CLIP-seq
MIRT2317399	hsa-miR-4731-5p	CLIP-seq
MIRT2317400	hsa-miR-4733-3p	CLIP-seq
MIRT1312255	hsa-miR-4742-5p	CLIP-seq
MIRT2317401	hsa-miR-4763-3p	CLIP-seq
MIRT2092820	hsa-miR-4772-3p	CLIP-seq
MIRT1312257	hsa-miR-4795-3p	CLIP-seq
MIRT2317402	hsa-miR-483-3p	CLIP-seq
MIRT1312191	hsa-miR-486-3p	CLIP-seq
MIRT2317403	hsa-miR-494	CLIP-seq
MIRT2317404	hsa-miR-498	CLIP-seq
MIRT2317405	hsa-miR-499-3p	CLIP-seq
MIRT2317406	hsa-miR-499a-3p	CLIP-seq
MIRT2092821	hsa-miR-5095	CLIP-seq
MIRT2317407	hsa-miR-515-5p	CLIP-seq
MIRT1312264	hsa-miR-520a-3p	CLIP-seq
MIRT1312265	hsa-miR-520b	CLIP-seq
MIRT1312266	hsa-miR-520c-3p	CLIP-seq
MIRT1312267	hsa-miR-520d-3p	CLIP-seq
MIRT1312268	hsa-miR-520d-5p	CLIP-seq
MIRT1312269	hsa-miR-520e	CLIP-seq
MIRT1312270	hsa-miR-520g	CLIP-seq
MIRT1312271	hsa-miR-520h	CLIP-seq
MIRT1312272	hsa-miR-524-5p	CLIP-seq
MIRT2317408	hsa-miR-545	CLIP-seq
MIRT2317409	hsa-miR-548aa	CLIP-seq
MIRT1312275	hsa-miR-548p	CLIP-seq
MIRT2317410	hsa-miR-603	CLIP-seq
MIRT2317411	hsa-miR-608	CLIP-seq
MIRT2317412	hsa-miR-612	CLIP-seq
MIRT2317413	hsa-miR-625	CLIP-seq
MIRT2317414	hsa-miR-651	CLIP-seq
MIRT1312281	hsa-miR-888	CLIP-seq
MIRT2317415	hsa-miR-935	CLIP-seq
MIRT2092791	hsa-miR-1915	CLIP-seq
MIRT2092794	hsa-miR-26a	CLIP-seq
MIRT2092795	hsa-miR-26b	CLIP-seq
MIRT2393830	hsa-miR-3180-5p	CLIP-seq
MIRT2092817	hsa-miR-4726-3p	CLIP-seq
MIRT2092820	hsa-miR-4772-3p	CLIP-seq
MIRT2393831	hsa-miR-520a-5p	CLIP-seq
MIRT2393832	hsa-miR-525-5p	CLIP-seq
MIRT2317370	hsa-miR-1911	CLIP-seq
MIRT2092791	hsa-miR-1915	CLIP-seq
MIRT2092793	hsa-miR-24	CLIP-seq
MIRT2092794	hsa-miR-26a	CLIP-seq
MIRT2092795	hsa-miR-26b	CLIP-seq
MIRT2092808	hsa-miR-4284	CLIP-seq
MIRT2092817	hsa-miR-4726-3p	CLIP-seq
MIRT2092820	hsa-miR-4772-3p	CLIP-seq
MIRT2317364	hsa-miR-1207-5p	CLIP-seq
MIRT2092791	hsa-miR-1915	CLIP-seq
MIRT2092794	hsa-miR-26a	CLIP-seq
MIRT2092795	hsa-miR-26b	CLIP-seq
MIRT2465980	hsa-miR-3150b-3p	CLIP-seq
MIRT1312223	hsa-miR-3714	CLIP-seq
MIRT2465981	hsa-miR-4253	CLIP-seq
MIRT2465982	hsa-miR-4689	CLIP-seq
MIRT2092817	hsa-miR-4726-3p	CLIP-seq
MIRT2465983	hsa-miR-4761-3p	CLIP-seq
MIRT2317401	hsa-miR-4763-3p	CLIP-seq
MIRT2465984	hsa-miR-4784	CLIP-seq
MIRT2465985	hsa-miR-765	CLIP-seq
MIRT1312282	hsa-miR-940	CLIP-seq
MIRT2613222	hsa-miR-106a	CLIP-seq
MIRT2613223	hsa-miR-106b	CLIP-seq
MIRT2613224	hsa-miR-1207-3p	CLIP-seq
MIRT2092789	hsa-miR-1226	CLIP-seq
MIRT2317365	hsa-miR-1234	CLIP-seq
MIRT2613225	hsa-miR-1243	CLIP-seq
MIRT2317367	hsa-miR-1275	CLIP-seq
MIRT2092790	hsa-miR-1291	CLIP-seq
MIRT2317369	hsa-miR-136	CLIP-seq
MIRT2613226	hsa-miR-146a	CLIP-seq
MIRT2613227	hsa-miR-146b-5p	CLIP-seq
MIRT2613228	hsa-miR-150	CLIP-seq
MIRT2613229	hsa-miR-17	CLIP-seq
MIRT2613230	hsa-miR-1825	CLIP-seq
MIRT2317370	hsa-miR-1911	CLIP-seq
MIRT2092791	hsa-miR-1915	CLIP-seq
MIRT2092792	hsa-miR-1972	CLIP-seq
MIRT2613231	hsa-miR-20a	CLIP-seq
MIRT2613232	hsa-miR-20b	CLIP-seq
MIRT2613233	hsa-miR-2113	CLIP-seq
MIRT2613234	hsa-miR-218	CLIP-seq
MIRT1312181	hsa-miR-23a	CLIP-seq
MIRT1312182	hsa-miR-23b	CLIP-seq
MIRT1312183	hsa-miR-23c	CLIP-seq
MIRT2092793	hsa-miR-24	CLIP-seq
MIRT2092794	hsa-miR-26a	CLIP-seq
MIRT2092795	hsa-miR-26b	CLIP-seq
MIRT1312210	hsa-miR-302a	CLIP-seq
MIRT1312211	hsa-miR-302b	CLIP-seq
MIRT1312212	hsa-miR-302c	CLIP-seq
MIRT1312213	hsa-miR-302d	CLIP-seq
MIRT1312214	hsa-miR-302e	CLIP-seq
MIRT2613235	hsa-miR-3064-5p	CLIP-seq
MIRT2613236	hsa-miR-3065-3p	CLIP-seq
MIRT2092797	hsa-miR-3173-5p	CLIP-seq
MIRT2613237	hsa-miR-3177-3p	CLIP-seq
MIRT2092798	hsa-miR-3189-3p	CLIP-seq
MIRT2613238	hsa-miR-3195	CLIP-seq
MIRT2613239	hsa-miR-323b-5p	CLIP-seq
MIRT2613240	hsa-miR-361-3p	CLIP-seq
MIRT2613241	hsa-miR-3654	CLIP-seq
MIRT2613242	hsa-miR-3663-5p	CLIP-seq
MIRT2613243	hsa-miR-3667-5p	CLIP-seq
MIRT1312225	hsa-miR-372	CLIP-seq
MIRT1312226	hsa-miR-373	CLIP-seq
MIRT2613244	hsa-miR-3937	CLIP-seq
MIRT2613245	hsa-miR-4251	CLIP-seq
MIRT2465981	hsa-miR-4253	CLIP-seq
MIRT2092808	hsa-miR-4284	CLIP-seq
MIRT2317387	hsa-miR-4291	CLIP-seq
MIRT2317388	hsa-miR-4297	CLIP-seq
MIRT2613246	hsa-miR-4323	CLIP-seq
MIRT2613247	hsa-miR-4330	CLIP-seq
MIRT2092809	hsa-miR-4438	CLIP-seq
MIRT1312241	hsa-miR-4505	CLIP-seq
MIRT2092811	hsa-miR-4520a-3p	CLIP-seq
MIRT2092812	hsa-miR-4525	CLIP-seq
MIRT2613248	hsa-miR-4527	CLIP-seq
MIRT2613249	hsa-miR-4529-5p	CLIP-seq
MIRT2613250	hsa-miR-4532	CLIP-seq
MIRT2092813	hsa-miR-4638-3p	CLIP-seq
MIRT2613251	hsa-miR-4649-3p	CLIP-seq
MIRT2092815	hsa-miR-4650-5p	CLIP-seq
MIRT2317395	hsa-miR-4665-5p	CLIP-seq
MIRT2613252	hsa-miR-4677-3p	CLIP-seq
MIRT2613253	hsa-miR-4679	CLIP-seq
MIRT2613254	hsa-miR-4680-5p	CLIP-seq
MIRT1312251	hsa-miR-4707-3p	CLIP-seq
MIRT2613255	hsa-miR-4711-3p	CLIP-seq
MIRT1312188	hsa-miR-4717-3p	CLIP-seq
MIRT2317398	hsa-miR-4723-5p	CLIP-seq
MIRT2092817	hsa-miR-4726-3p	CLIP-seq
MIRT1312189	hsa-miR-4728-5p	CLIP-seq
MIRT2317399	hsa-miR-4731-5p	CLIP-seq
MIRT2613256	hsa-miR-4758-3p	CLIP-seq
MIRT2465983	hsa-miR-4761-3p	CLIP-seq
MIRT2092820	hsa-miR-4772-3p	CLIP-seq
MIRT2317402	hsa-miR-483-3p	CLIP-seq
MIRT2092821	hsa-miR-5095	CLIP-seq
MIRT2613257	hsa-miR-512-3p	CLIP-seq
MIRT2613258	hsa-miR-512-5p	CLIP-seq
MIRT2317407	hsa-miR-515-5p	CLIP-seq
MIRT2613259	hsa-miR-519d	CLIP-seq
MIRT1312264	hsa-miR-520a-3p	CLIP-seq
MIRT1312265	hsa-miR-520b	CLIP-seq
MIRT1312266	hsa-miR-520c-3p	CLIP-seq
MIRT1312267	hsa-miR-520d-3p	CLIP-seq
MIRT1312269	hsa-miR-520e	CLIP-seq
MIRT2613260	hsa-miR-520f	CLIP-seq
MIRT1312270	hsa-miR-520g	CLIP-seq
MIRT1312271	hsa-miR-520h	CLIP-seq
MIRT2317408	hsa-miR-545	CLIP-seq
MIRT2613261	hsa-miR-564	CLIP-seq
MIRT2613262	hsa-miR-589	CLIP-seq
MIRT2613263	hsa-miR-619	CLIP-seq
MIRT2317413	hsa-miR-625	CLIP-seq
MIRT2613264	hsa-miR-767-3p	CLIP-seq
MIRT2613265	hsa-miR-93	CLIP-seq
MIRT1312282	hsa-miR-940	CLIP-seq
MIRT2613222	hsa-miR-106a	CLIP-seq
MIRT2613223	hsa-miR-106b	CLIP-seq
MIRT2613224	hsa-miR-1207-3p	CLIP-seq
MIRT2317365	hsa-miR-1234	CLIP-seq
MIRT2613225	hsa-miR-1243	CLIP-seq
MIRT2317367	hsa-miR-1275	CLIP-seq
MIRT2092790	hsa-miR-1291	CLIP-seq
MIRT2613226	hsa-miR-146a	CLIP-seq
MIRT2613227	hsa-miR-146b-5p	CLIP-seq
MIRT2613228	hsa-miR-150	CLIP-seq
MIRT2613229	hsa-miR-17	CLIP-seq
MIRT2317370	hsa-miR-1911	CLIP-seq
MIRT2092791	hsa-miR-1915	CLIP-seq
MIRT2092792	hsa-miR-1972	CLIP-seq
MIRT2613231	hsa-miR-20a	CLIP-seq
MIRT2613232	hsa-miR-20b	CLIP-seq
MIRT1312181	hsa-miR-23a	CLIP-seq
MIRT1312182	hsa-miR-23b	CLIP-seq
MIRT1312183	hsa-miR-23c	CLIP-seq
MIRT2092793	hsa-miR-24	CLIP-seq
MIRT2092794	hsa-miR-26a	CLIP-seq
MIRT2092795	hsa-miR-26b	CLIP-seq
MIRT1312210	hsa-miR-302a	CLIP-seq
MIRT1312211	hsa-miR-302b	CLIP-seq
MIRT1312212	hsa-miR-302c	CLIP-seq
MIRT1312213	hsa-miR-302d	CLIP-seq
MIRT1312214	hsa-miR-302e	CLIP-seq
MIRT2613235	hsa-miR-3064-5p	CLIP-seq
MIRT2613236	hsa-miR-3065-3p	CLIP-seq
MIRT2092797	hsa-miR-3173-5p	CLIP-seq
MIRT2613237	hsa-miR-3177-3p	CLIP-seq
MIRT2613239	hsa-miR-323b-5p	CLIP-seq
MIRT2613241	hsa-miR-3654	CLIP-seq
MIRT2613242	hsa-miR-3663-5p	CLIP-seq
MIRT1312225	hsa-miR-372	CLIP-seq
MIRT1312226	hsa-miR-373	CLIP-seq
MIRT2092799	hsa-miR-378	CLIP-seq
MIRT2092800	hsa-miR-378b	CLIP-seq
MIRT2092801	hsa-miR-378c	CLIP-seq
MIRT2092802	hsa-miR-378d	CLIP-seq
MIRT2092803	hsa-miR-378e	CLIP-seq
MIRT2092804	hsa-miR-378f	CLIP-seq
MIRT2092805	hsa-miR-378h	CLIP-seq
MIRT2092806	hsa-miR-378i	CLIP-seq
MIRT2092807	hsa-miR-422a	CLIP-seq
MIRT2613245	hsa-miR-4251	CLIP-seq
MIRT2092808	hsa-miR-4284	CLIP-seq
MIRT2317387	hsa-miR-4291	CLIP-seq
MIRT2317388	hsa-miR-4297	CLIP-seq
MIRT2613246	hsa-miR-4323	CLIP-seq
MIRT1312241	hsa-miR-4505	CLIP-seq
MIRT1312242	hsa-miR-4514	CLIP-seq
MIRT2092811	hsa-miR-4520a-3p	CLIP-seq
MIRT2092812	hsa-miR-4525	CLIP-seq
MIRT2613248	hsa-miR-4527	CLIP-seq
MIRT2613250	hsa-miR-4532	CLIP-seq
MIRT2092813	hsa-miR-4638-3p	CLIP-seq
MIRT1312244	hsa-miR-4645-5p	CLIP-seq
MIRT2613251	hsa-miR-4649-3p	CLIP-seq
MIRT2092815	hsa-miR-4650-5p	CLIP-seq
MIRT2317395	hsa-miR-4665-5p	CLIP-seq
MIRT1312248	hsa-miR-4673	CLIP-seq
MIRT1312250	hsa-miR-4692	CLIP-seq
MIRT1312251	hsa-miR-4707-3p	CLIP-seq
MIRT2613255	hsa-miR-4711-3p	CLIP-seq
MIRT1312188	hsa-miR-4717-3p	CLIP-seq
MIRT1312252	hsa-miR-4722-5p	CLIP-seq
MIRT2317398	hsa-miR-4723-5p	CLIP-seq
MIRT2092817	hsa-miR-4726-3p	CLIP-seq
MIRT2317399	hsa-miR-4731-5p	CLIP-seq
MIRT2613256	hsa-miR-4758-3p	CLIP-seq
MIRT2092820	hsa-miR-4772-3p	CLIP-seq
MIRT2613257	hsa-miR-512-3p	CLIP-seq
MIRT2613258	hsa-miR-512-5p	CLIP-seq
MIRT2613259	hsa-miR-519d	CLIP-seq
MIRT1312264	hsa-miR-520a-3p	CLIP-seq
MIRT1312265	hsa-miR-520b	CLIP-seq
MIRT1312266	hsa-miR-520c-3p	CLIP-seq
MIRT1312267	hsa-miR-520d-3p	CLIP-seq
MIRT1312269	hsa-miR-520e	CLIP-seq
MIRT1312270	hsa-miR-520g	CLIP-seq
MIRT1312271	hsa-miR-520h	CLIP-seq
MIRT2317408	hsa-miR-545	CLIP-seq
MIRT2613261	hsa-miR-564	CLIP-seq
MIRT2613262	hsa-miR-589	CLIP-seq
MIRT2317413	hsa-miR-625	CLIP-seq
MIRT2689872	hsa-miR-668	CLIP-seq
MIRT2613265	hsa-miR-93	CLIP-seq
MIRT1312282	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12600646, 15367624, 19893624, 32296183
GO:0005634	Component	Nucleus	IDA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006915	Process	Apoptotic process	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016567	Process	Protein ubiquitination	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030136	Component	Clathrin-coated vesicle	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032480	Process	Negative regulation of type I interferon production	TAS
GO:0032648	Process	Regulation of interferon-beta production	IDA	19893624
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	19893624
GO:0046872	Function	Metal ion binding	IEA
GO:0050691	Process	Regulation of defense response to virus by host	IDA	19893624
GO:0061630	Function	Ubiquitin protein ligase activity	EXP	19893624
GO:0061630	Function	Ubiquitin protein ligase activity	IEA
GO:0070936	Process	Protein K48-linked ubiquitination	IDA	19893624

Other IDs

• MIM: 609948
• HGNC: 21698
• e!Ensembl: ENSG00000011275

Protein

• UniProt ID: Q9NWF9
• Protein name: E3 ubiquitin-protein ligase RNF216 (EC 2.3.2.27) (RING finger protein 216) (RING-type E3 ubiquitin transferase RNF216) (Triad domain-containing protein 3) (Ubiquitin-conjugating enzyme 7-interacting protein 1) (Zinc finger protein inhibiting NF-kappa-B)
• Protein function: [Isoform 1]: E3 ubiquitin ligase which accepts ubiquitin from specific E2 ubiquitin-conjugating enzymes, and then transfers it to substrates promoting their ubiquitination (PubMed:34998453). Plays a role in the regulation of antiviral responses
• PDB: 7M4M, 7M4N, 7M4O, 8EB0
• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous, with the highest levels of expression in testis and peripheral blood leukocytes.
• Sequence:

  MEEGNNNEEVIHLNNFHCHRGQEWINLRDGPITISDSSDEERIPMLVTPAPQQHEEEDLD
  DDVILTEDDSEDDYGEFLDLGPPGISEFTKPSGQTEREPKPGPSHNQAANDIVNPRSEQK
  VIILEEGSLLYTESDPLETQNQSSEDSETELLSNLGESAALADDQAIEEDCWLDHPYFQS
  LNQQPREITNQVVPQERQPEAELGRLLFQHEFPGPAFPRPEPQQGGISGPSSPQPAHPLG
  EFEDQQLASDDEEPGPAFPMQESQEPNLENIWGQEAAEVDQELVELLVKETEARFPDVAN
  GFIEEIIHFKNYYDLNVLCNFLLENPDYPKREDRIIINPSSSLLASQDETKLPKIDFFDY
  SKLTPLDQRCFIQAADLLMADFKVLSSQDIKWALHELKGHYAITRKALSDAIKKWQELSP
  ETSGKRKKRKQMNQYSYIDFKFEQGDIKIEKRMFFLENKRRHCRSYDRRALLPAVQQEQE
  FYEQKIKEMAEHEDFLLALQMNEEQYQKDGQLIECRCCYGEFPFEELTQCADAHLFCKEC
  LIRYAQEAVFGSGKLELSCMEGSCTCSFPTSELEKVLPQTILYKYYERKAEEEVAAAYAD
  ELVRCPSCSFPALLDSDVKRFSCPNPHCRKETCRKCQGLWKEHNGLTCEELAEKDDIKYR
  TSIEEKMTAARIRKCHKCGTGLIKSEGCNRMSCRCGAQMCYLCRVSINGYDHFCQHPRSP
  GAPCQECSRCSLWTDPTEDDEKLIEEIQKEAEEEQKRKNGENTFKRIGPPLEKPVEKVQR
  VEALPRPVPQNLPQPQMPPYAFAHPPFPLPPVRPVFNNFPLNMGPIPAPYVPPLPNVRVN
  YDFGPIHMPLEHNLPMHFGPQPRHRF

• Sequence length: 866

Pathways

Reactome:

Negative regulators of DDX58/IFIH1 signaling

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
Cerebellar ataxia-hypogonadism syndrome	Likely pathogenic; Pathogenic	rs2128629356, rs200769983, rs374351343, rs1335215379, rs2534249263, rs794728000, rs373785974, rs1419567670, rs1562451985, rs387907368, rs387907369, rs387907370, rs1186852853	RCV001647236 RCV001647237 RCV005257986 RCV001845028 RCV002468775 RCV000180793 RCV000180794 RCV003153225 RCV000714821 RCV000043627 RCV000043628 RCV000043629 RCV006449380	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypogonadotropic hypogonadism 7 with or without anosmia	Likely pathogenic	rs730882248	RCV000162188	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy	Likely pathogenic	rs730882248	RCV000162188	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CEREBELLAR ATAXIA AND HYPOGONADOTROPIC HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTAL CARIES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RNF216-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rosette-forming glioneuronal tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Accessory nipple	Accessory Nipple	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	37161390	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	37161390	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	20414355	Associate	★☆☆☆☆ Found in Text Mining only
Brachycephaly	Brachycephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26070530	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24690483	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Gordon Holmes syndrome	GENOMICS_ENGLAND_DG	23656588, 24357685		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Gordon Holmes syndrome	ORPHANET_DG	23656588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Gordon Holmes syndrome	UNIPROT_DG	23656588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Gordon Holmes syndrome	BEFREE	24113144, 25841028, 27995769, 30649198, 31087003		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Cerebellar ataxia and hypogonadotropic hypogonadism	Pubtator	32982993, 34998453, 37161390, 38377650	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Gordon Holmes syndrome	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Gordon Holmes syndrome	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar ataxia-hypogonadism syndrome	Cerebellar Ataxia-Hypogonadism Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cerebellar atrophy	Cerebellar atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chorioretinal dystrophy	Chorioretinal dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	37161390	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	27037036	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	27203674		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	37161390	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dystonia	Dystonia	Pubtator	37161390	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemiplegia/hemiparesis	Hemiplegia/hemiparesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	25258038, 32982993, 37161390	Associate	★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	BEFREE	30733708		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Impaired cognition	Impaired Cognition	BEFREE	27995769		★☆☆☆☆ Found in Text Mining only
Leukodystrophy	Leukodystrophy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukodystrophy Hypomyelinating with Hypodontia and Hypogonadotropic Hypogonadism	Hypomyelinating leukodystrophy	Pubtator	37161390	Associate	★☆☆☆☆ Found in Text Mining only
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism	Hypomyelinating Leukodystrophy, With Hypodontia And Hypogonadotropic Hypogonadism	BEFREE	26365775		★☆☆☆☆ Found in Text Mining only
McCune-Albright Syndrome	McCune-Albright Syndrome	BEFREE	17982384		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	27995769		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	27203674		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	34998453	Associate	★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	19690434		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Parkinson Disease Secondary	Secondary parkinson disease	Pubtator	37161390	Associate	★☆☆☆☆ Found in Text Mining only
Speech Disorders	Speech Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-linked agammaglobulinemia	Agammaglobulinemia, X-Linked	BEFREE	31185757		★☆☆☆☆ Found in Text Mining only