CYLD (CYLD lysine 63 deubiquitinase)

Gene

• Entrez ID: 1540
• Gene name: CYLD lysine 63 deubiquitinase
• Gene symbol: CYLD
• Synonyms (NCBI Gene): BRSS, CDMT, CYLD1, CYLDI, EAC, FTDALS8, MFT, MFT1, SBS, TEM, USPL2
• Chromosome: 16
• Chromosome location: 16q12.1
• Summary: This gene is encodes a cytoplasmic protein with three cytoskeletal-associated protein-glycine-conserved (CAP-GLY) domains that functions as a deubiquitinating enzyme. Mutations in this gene have been associated with cylindromatosis, multiple familial tric

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs764952788	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained, non coding transcript variant
rs886040868	TGGA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886040869	->C	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886040870	CAAGAGGTGT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886040871	->AG	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886040872	C>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs886040873	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs886040874	->T	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs886040875	->T	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs886040876	ATCA>-	Pathogenic	Frameshift variant, non coding transcript variant, intron variant, coding sequence variant
rs886040879	A>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1596971597	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1597052041	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1597055529	TT>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, non coding transcript variant
rs1597058708	T>G	Pathogenic	Splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004211	hsa-miR-197-3p	Microarray	16822819
MIRT005595	hsa-miR-181b-5p	Luciferase reporter assay, qRT-PCR	20797623
MIRT006978	hsa-miR-182-5p	Luciferase reporter assay, qRT-PCR, Western blot	23006329
MIRT006978	hsa-miR-182-5p	Luciferase reporter assay, qRT-PCR, Western blot	23006329
MIRT044462	hsa-miR-320a	CLASH	23622248
MIRT053602	hsa-miR-362-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24495516
MIRT053602	hsa-miR-362-5p	Flow, Luciferase reporter assay, qRT-PCR, Western blot	24495516
MIRT054270	hsa-miR-500a-5p	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	25595906
MIRT054270	hsa-miR-500a-5p	Immunoprecipitaion, Luciferase reporter assay, qRT-PCR, Western blot	25595906
MIRT053602	hsa-miR-362-5p	Luciferase reporter assay	25449782
MIRT543282	hsa-miR-8485	HITS-CLIP	21572407
MIRT543281	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT543280	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT543279	hsa-miR-603	HITS-CLIP	21572407
MIRT543278	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT543277	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT543276	hsa-miR-3941	HITS-CLIP	21572407
MIRT543275	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613175	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613451	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613172	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT668823	hsa-miR-1321	HITS-CLIP	23824327
MIRT668824	hsa-miR-4739	HITS-CLIP	23824327
MIRT668822	hsa-miR-4756-5p	HITS-CLIP	23824327
MIRT668821	hsa-miR-211-3p	HITS-CLIP	23824327
MIRT668820	hsa-miR-4270	HITS-CLIP	23824327
MIRT668819	hsa-miR-4441	HITS-CLIP	23824327
MIRT668818	hsa-miR-6754-5p	HITS-CLIP	23824327
MIRT668817	hsa-miR-4528	HITS-CLIP	23824327
MIRT668816	hsa-miR-4301	HITS-CLIP	23824327
MIRT668815	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT668814	hsa-miR-4751	HITS-CLIP	23824327
MIRT668813	hsa-miR-659-5p	HITS-CLIP	23824327
MIRT668812	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT668811	hsa-miR-765	HITS-CLIP	23824327
MIRT668810	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT668809	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT668808	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT668807	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613451	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT640133	hsa-miR-1245b-5p	HITS-CLIP	23824327
MIRT640131	hsa-miR-3142	HITS-CLIP	23824327
MIRT640132	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT640130	hsa-miR-3140-5p	HITS-CLIP	23824327
MIRT640129	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT640128	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT640127	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT640126	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT640125	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT640124	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT640122	hsa-miR-7975	HITS-CLIP	23824327
MIRT640123	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT640121	hsa-miR-1200	HITS-CLIP	23824327
MIRT640120	hsa-miR-3685	HITS-CLIP	23824327
MIRT640119	hsa-miR-384	HITS-CLIP	23824327
MIRT613175	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613173	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT613172	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT613451	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613175	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613173	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT613172	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613175	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613172	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613175	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613173	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT613172	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613175	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613173	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT613172	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT613451	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613175	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613173	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT613172	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT543282	hsa-miR-8485	PAR-CLIP	21572407
MIRT543281	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT543280	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT543279	hsa-miR-603	PAR-CLIP	21572407
MIRT543278	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT543277	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT543276	hsa-miR-3941	PAR-CLIP	21572407
MIRT543275	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT074792	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT074789	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT074792	hsa-miR-106b-5p	HITS-CLIP	22473208
MIRT727910	hsa-miR-15a-5p	HITS-CLIP	22473208
MIRT727909	hsa-miR-15b-5p	HITS-CLIP	22473208
MIRT727908	hsa-miR-16-5p	HITS-CLIP	22473208
MIRT727907	hsa-miR-195-5p	HITS-CLIP	22473208
MIRT074788	hsa-miR-17-5p	HITS-CLIP	22473208
MIRT074795	hsa-miR-20b-5p	HITS-CLIP	22473208
MIRT074790	hsa-miR-93-5p	HITS-CLIP	22473208
MIRT074799	hsa-miR-519d-3p	HITS-CLIP	22473208
MIRT074789	hsa-miR-20a-5p	HITS-CLIP	22473208
MIRT053602	hsa-miR-362-5p	Luciferase reporter assay	26893711
MIRT732122	hsa-miR-130b-3p	Luciferase reporter assay, qRT-PCR, Western blot	26711782
MIRT732122	hsa-miR-130b-3p	Luciferase reporter assay, qRT-PCR, Western blot	26711782
MIRT005595	hsa-miR-181b-5p	Luciferase reporter assay, qRT-PCR, Western blot	27189061
MIRT005595	hsa-miR-181b-5p	Luciferase reporter assay, qRT-PCR, Western blot	27189061
MIRT005595	hsa-miR-181b-5p	Luciferase reporter assay, qRT-PCR, Western blot	27189061
MIRT005595	hsa-miR-181b-5p	Luciferase reporter assay, qRT-PCR, Western blot	27189061
MIRT005595	hsa-miR-181b-5p	Luciferase reporter assay, qRT-PCR, Western blot	27189061
MIRT005595	hsa-miR-181b-5p	Luciferase reporter assay, qRT-PCR, Western blot	27189061
MIRT053602	hsa-miR-362-5p	Luciferase reporter assay	25909817
MIRT053602	hsa-miR-362-5p	Luciferase reporter assay	25909817
MIRT613451	hsa-miR-605-5p	HITS-CLIP	27418678
MIRT733100	hsa-miR-135b-5p	Immunofluorescence, Immunohistochemistry (IHC), In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blotting	33990540
MIRT543282	hsa-miR-8485	HITS-CLIP	21572407
MIRT543281	hsa-miR-329-3p	HITS-CLIP	21572407
MIRT543280	hsa-miR-362-3p	HITS-CLIP	21572407
MIRT543279	hsa-miR-603	HITS-CLIP	21572407
MIRT543278	hsa-miR-5580-3p	HITS-CLIP	21572407
MIRT543277	hsa-miR-5011-5p	HITS-CLIP	21572407
MIRT543276	hsa-miR-3941	HITS-CLIP	21572407
MIRT543275	hsa-miR-4789-5p	HITS-CLIP	21572407
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613175	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613451	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613172	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT668823	hsa-miR-1321	HITS-CLIP	23824327
MIRT668824	hsa-miR-4739	HITS-CLIP	23824327
MIRT668822	hsa-miR-4756-5p	HITS-CLIP	23824327
MIRT668821	hsa-miR-211-3p	HITS-CLIP	23824327
MIRT668820	hsa-miR-4270	HITS-CLIP	23824327
MIRT668819	hsa-miR-4441	HITS-CLIP	23824327
MIRT668818	hsa-miR-6754-5p	HITS-CLIP	23824327
MIRT668817	hsa-miR-4528	HITS-CLIP	23824327
MIRT668816	hsa-miR-4301	HITS-CLIP	23824327
MIRT668815	hsa-miR-3667-3p	HITS-CLIP	23824327
MIRT668814	hsa-miR-4751	HITS-CLIP	23824327
MIRT668813	hsa-miR-659-5p	HITS-CLIP	23824327
MIRT668812	hsa-miR-7154-3p	HITS-CLIP	23824327
MIRT668811	hsa-miR-765	HITS-CLIP	23824327
MIRT668810	hsa-miR-7106-5p	HITS-CLIP	23824327
MIRT668809	hsa-miR-188-3p	HITS-CLIP	23824327
MIRT668808	hsa-miR-3156-3p	HITS-CLIP	23824327
MIRT668807	hsa-miR-335-3p	HITS-CLIP	23824327
MIRT613451	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT640133	hsa-miR-1245b-5p	HITS-CLIP	23824327
MIRT640131	hsa-miR-3142	HITS-CLIP	23824327
MIRT640132	hsa-miR-877-3p	HITS-CLIP	23824327
MIRT640130	hsa-miR-3140-5p	HITS-CLIP	23824327
MIRT640129	hsa-miR-1236-3p	HITS-CLIP	23824327
MIRT640128	hsa-miR-2682-3p	HITS-CLIP	23824327
MIRT640127	hsa-miR-6781-3p	HITS-CLIP	23824327
MIRT640126	hsa-miR-4757-5p	HITS-CLIP	23824327
MIRT640125	hsa-miR-6744-3p	HITS-CLIP	23824327
MIRT640124	hsa-miR-5571-3p	HITS-CLIP	23824327
MIRT640122	hsa-miR-7975	HITS-CLIP	23824327
MIRT640123	hsa-miR-378a-5p	HITS-CLIP	23824327
MIRT640121	hsa-miR-1200	HITS-CLIP	23824327
MIRT640120	hsa-miR-3685	HITS-CLIP	23824327
MIRT640119	hsa-miR-384	HITS-CLIP	23824327
MIRT613175	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613173	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT613172	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT613451	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613175	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613173	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT613172	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613175	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613172	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613175	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613173	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT613172	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613175	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613173	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT613172	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT613451	hsa-miR-605-5p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613176	hsa-miR-6845-3p	HITS-CLIP	23824327
MIRT613175	hsa-miR-7110-3p	HITS-CLIP	23824327
MIRT613174	hsa-miR-6817-3p	HITS-CLIP	23824327
MIRT613173	hsa-miR-942-5p	HITS-CLIP	23824327
MIRT613172	hsa-miR-6740-3p	HITS-CLIP	23824327
MIRT613171	hsa-miR-6873-3p	HITS-CLIP	23824327
MIRT613170	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT613169	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT543282	hsa-miR-8485	PAR-CLIP	21572407
MIRT543281	hsa-miR-329-3p	PAR-CLIP	21572407
MIRT543280	hsa-miR-362-3p	PAR-CLIP	21572407
MIRT543279	hsa-miR-603	PAR-CLIP	21572407
MIRT543278	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT543277	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT543276	hsa-miR-3941	PAR-CLIP	21572407
MIRT543275	hsa-miR-4789-5p	PAR-CLIP	21572407
MIRT920248	hsa-miR-1298	CLIP-seq
MIRT920249	hsa-miR-1302	CLIP-seq
MIRT920250	hsa-miR-15a	CLIP-seq
MIRT920251	hsa-miR-15b	CLIP-seq
MIRT920252	hsa-miR-16	CLIP-seq
MIRT920253	hsa-miR-1912	CLIP-seq
MIRT920254	hsa-miR-195	CLIP-seq
MIRT920255	hsa-miR-19a	CLIP-seq
MIRT920256	hsa-miR-19b	CLIP-seq
MIRT920257	hsa-miR-3124-3p	CLIP-seq
MIRT920258	hsa-miR-3126-5p	CLIP-seq
MIRT920259	hsa-miR-3163	CLIP-seq
MIRT920260	hsa-miR-320b	CLIP-seq
MIRT920261	hsa-miR-320c	CLIP-seq
MIRT920262	hsa-miR-320d	CLIP-seq
MIRT920263	hsa-miR-3660	CLIP-seq
MIRT920264	hsa-miR-3692	CLIP-seq
MIRT920265	hsa-miR-424	CLIP-seq
MIRT920266	hsa-miR-4298	CLIP-seq
MIRT920267	hsa-miR-4419a	CLIP-seq
MIRT920268	hsa-miR-4429	CLIP-seq
MIRT920269	hsa-miR-4510	CLIP-seq
MIRT920270	hsa-miR-4526	CLIP-seq
MIRT920271	hsa-miR-4645-3p	CLIP-seq
MIRT920272	hsa-miR-4797-5p	CLIP-seq
MIRT920273	hsa-miR-497	CLIP-seq
MIRT920274	hsa-miR-542-3p	CLIP-seq
MIRT920275	hsa-miR-548aa	CLIP-seq
MIRT920276	hsa-miR-3160-3p	CLIP-seq
MIRT920277	hsa-miR-4709-5p	CLIP-seq
MIRT920272	hsa-miR-4797-5p	CLIP-seq
MIRT920274	hsa-miR-542-3p	CLIP-seq
MIRT920278	hsa-miR-802	CLIP-seq
MIRT920279	hsa-miR-105	CLIP-seq
MIRT920280	hsa-miR-1207-5p	CLIP-seq
MIRT920281	hsa-miR-1273f	CLIP-seq
MIRT920282	hsa-miR-1273g	CLIP-seq
MIRT920283	hsa-miR-129-3p	CLIP-seq
MIRT920248	hsa-miR-1298	CLIP-seq
MIRT920284	hsa-miR-130a	CLIP-seq
MIRT920285	hsa-miR-130b	CLIP-seq
MIRT920286	hsa-miR-139-5p	CLIP-seq
MIRT920250	hsa-miR-15a	CLIP-seq
MIRT920251	hsa-miR-15b	CLIP-seq
MIRT920252	hsa-miR-16	CLIP-seq
MIRT920287	hsa-miR-1827	CLIP-seq
MIRT920254	hsa-miR-195	CLIP-seq
MIRT920288	hsa-miR-197	CLIP-seq
MIRT920255	hsa-miR-19a	CLIP-seq
MIRT920256	hsa-miR-19b	CLIP-seq
MIRT920289	hsa-miR-2054	CLIP-seq
MIRT920290	hsa-miR-2277-3p	CLIP-seq
MIRT920291	hsa-miR-23a	CLIP-seq
MIRT920292	hsa-miR-23b	CLIP-seq
MIRT920293	hsa-miR-23c	CLIP-seq
MIRT920294	hsa-miR-301a	CLIP-seq
MIRT920295	hsa-miR-301b	CLIP-seq
MIRT920257	hsa-miR-3124-3p	CLIP-seq
MIRT920296	hsa-miR-3132	CLIP-seq
MIRT920297	hsa-miR-3143	CLIP-seq
MIRT920298	hsa-miR-3149	CLIP-seq
MIRT920299	hsa-miR-3173-3p	CLIP-seq
MIRT920260	hsa-miR-320b	CLIP-seq
MIRT920261	hsa-miR-320c	CLIP-seq
MIRT920262	hsa-miR-320d	CLIP-seq
MIRT920300	hsa-miR-3612	CLIP-seq
MIRT920301	hsa-miR-3617	CLIP-seq
MIRT920302	hsa-miR-3655	CLIP-seq
MIRT920303	hsa-miR-3666	CLIP-seq
MIRT920264	hsa-miR-3692	CLIP-seq
MIRT920304	hsa-miR-369-3p	CLIP-seq
MIRT920305	hsa-miR-374a	CLIP-seq
MIRT920306	hsa-miR-374b	CLIP-seq
MIRT920307	hsa-miR-421	CLIP-seq
MIRT920265	hsa-miR-424	CLIP-seq
MIRT920308	hsa-miR-4263	CLIP-seq
MIRT920309	hsa-miR-4272	CLIP-seq
MIRT920310	hsa-miR-4295	CLIP-seq
MIRT920311	hsa-miR-4305	CLIP-seq
MIRT920312	hsa-miR-4325	CLIP-seq
MIRT920313	hsa-miR-4428	CLIP-seq
MIRT920268	hsa-miR-4429	CLIP-seq
MIRT920314	hsa-miR-4443	CLIP-seq
MIRT920315	hsa-miR-4446-5p	CLIP-seq
MIRT920316	hsa-miR-4477a	CLIP-seq
MIRT920317	hsa-miR-4521	CLIP-seq
MIRT920318	hsa-miR-4534	CLIP-seq
MIRT920319	hsa-miR-454	CLIP-seq
MIRT920320	hsa-miR-4666-5p	CLIP-seq
MIRT920321	hsa-miR-4668-3p	CLIP-seq
MIRT920322	hsa-miR-4678	CLIP-seq
MIRT920323	hsa-miR-4687-5p	CLIP-seq
MIRT920324	hsa-miR-4698	CLIP-seq
MIRT920325	hsa-miR-4700-3p	CLIP-seq
MIRT920326	hsa-miR-4763-3p	CLIP-seq
MIRT920327	hsa-miR-4775	CLIP-seq
MIRT920328	hsa-miR-4777-5p	CLIP-seq
MIRT920329	hsa-miR-4789-3p	CLIP-seq
MIRT920272	hsa-miR-4797-5p	CLIP-seq
MIRT920330	hsa-miR-4802-5p	CLIP-seq
MIRT920331	hsa-miR-4803	CLIP-seq
MIRT920332	hsa-miR-487a	CLIP-seq
MIRT920333	hsa-miR-490-3p	CLIP-seq
MIRT920273	hsa-miR-497	CLIP-seq
MIRT920334	hsa-miR-500a	CLIP-seq
MIRT920335	hsa-miR-518d-5p	CLIP-seq
MIRT920336	hsa-miR-519b-5p	CLIP-seq
MIRT920337	hsa-miR-519c-5p	CLIP-seq
MIRT920338	hsa-miR-520c-5p	CLIP-seq
MIRT920339	hsa-miR-526a	CLIP-seq
MIRT920340	hsa-miR-526b	CLIP-seq
MIRT920274	hsa-miR-542-3p	CLIP-seq
MIRT920341	hsa-miR-543	CLIP-seq
MIRT920342	hsa-miR-556-3p	CLIP-seq
MIRT920343	hsa-miR-579	CLIP-seq
MIRT920344	hsa-miR-641	CLIP-seq
MIRT920345	hsa-miR-649	CLIP-seq
MIRT920346	hsa-miR-650	CLIP-seq
MIRT920347	hsa-miR-661	CLIP-seq
MIRT920348	hsa-miR-940	CLIP-seq
MIRT920349	hsa-miR-944	CLIP-seq
MIRT738335	hsa-miR-1283	CLIP-seq
MIRT738336	hsa-miR-3618	CLIP-seq
MIRT738338	hsa-miR-4264	CLIP-seq
MIRT738340	hsa-miR-4691-5p	CLIP-seq
MIRT738339	hsa-miR-4797-3p	CLIP-seq
MIRT738337	hsa-miR-622	CLIP-seq
MIRT1972722	hsa-miR-1289	CLIP-seq
MIRT1972723	hsa-miR-1909	CLIP-seq
MIRT920253	hsa-miR-1912	CLIP-seq
MIRT920289	hsa-miR-2054	CLIP-seq
MIRT1972724	hsa-miR-3121-3p	CLIP-seq
MIRT920257	hsa-miR-3124-3p	CLIP-seq
MIRT1972725	hsa-miR-3130-5p	CLIP-seq
MIRT920259	hsa-miR-3163	CLIP-seq
MIRT1972726	hsa-miR-3198	CLIP-seq
MIRT1972727	hsa-miR-331-3p	CLIP-seq
MIRT1972728	hsa-miR-340	CLIP-seq
MIRT1972729	hsa-miR-3591-3p	CLIP-seq
MIRT1972730	hsa-miR-3646	CLIP-seq
MIRT1972731	hsa-miR-3647-3p	CLIP-seq
MIRT920264	hsa-miR-3692	CLIP-seq
MIRT1972732	hsa-miR-3942-3p	CLIP-seq
MIRT1972733	hsa-miR-4261	CLIP-seq
MIRT1972734	hsa-miR-4292	CLIP-seq
MIRT1972735	hsa-miR-4294	CLIP-seq
MIRT1972736	hsa-miR-4309	CLIP-seq
MIRT920267	hsa-miR-4419a	CLIP-seq
MIRT1972737	hsa-miR-4436a	CLIP-seq
MIRT1972738	hsa-miR-4482	CLIP-seq
MIRT1972739	hsa-miR-4496	CLIP-seq
MIRT920269	hsa-miR-4510	CLIP-seq
MIRT920318	hsa-miR-4534	CLIP-seq
MIRT1972740	hsa-miR-4646-5p	CLIP-seq
MIRT1972741	hsa-miR-4659a-3p	CLIP-seq
MIRT1972742	hsa-miR-4659b-3p	CLIP-seq
MIRT1972743	hsa-miR-4699-3p	CLIP-seq
MIRT1972744	hsa-miR-4713-5p	CLIP-seq
MIRT1972745	hsa-miR-4729	CLIP-seq
MIRT1972746	hsa-miR-4747-5p	CLIP-seq
MIRT1972747	hsa-miR-495	CLIP-seq
MIRT1972748	hsa-miR-532-3p	CLIP-seq
MIRT1972749	hsa-miR-587	CLIP-seq
MIRT1972750	hsa-miR-601	CLIP-seq
MIRT1972751	hsa-miR-665	CLIP-seq
MIRT1972752	hsa-miR-3675-3p	CLIP-seq
MIRT920316	hsa-miR-4477a	CLIP-seq
MIRT920343	hsa-miR-579	CLIP-seq
MIRT2208416	hsa-miR-583	CLIP-seq
MIRT920255	hsa-miR-19a	CLIP-seq
MIRT920256	hsa-miR-19b	CLIP-seq
MIRT2208417	hsa-miR-34b	CLIP-seq
MIRT2208418	hsa-miR-371-5p	CLIP-seq
MIRT2208419	hsa-miR-371b-5p	CLIP-seq
MIRT920324	hsa-miR-4698	CLIP-seq
MIRT1972745	hsa-miR-4729	CLIP-seq
MIRT2208420	hsa-miR-513c	CLIP-seq
MIRT2208421	hsa-miR-514b-5p	CLIP-seq
MIRT2208422	hsa-miR-516a-3p	CLIP-seq
MIRT920275	hsa-miR-548aa	CLIP-seq
MIRT920343	hsa-miR-579	CLIP-seq
MIRT1972745	hsa-miR-4729	CLIP-seq
MIRT920343	hsa-miR-579	CLIP-seq
MIRT2512258	hsa-miR-1	CLIP-seq
MIRT2512259	hsa-miR-1202	CLIP-seq
MIRT2512260	hsa-miR-1258	CLIP-seq
MIRT738335	hsa-miR-1283	CLIP-seq
MIRT2512261	hsa-miR-135a	CLIP-seq
MIRT2512262	hsa-miR-135b	CLIP-seq
MIRT2512263	hsa-miR-206	CLIP-seq
MIRT2512264	hsa-miR-3117-3p	CLIP-seq
MIRT2512265	hsa-miR-3152-5p	CLIP-seq
MIRT2512266	hsa-miR-3168	CLIP-seq
MIRT2512267	hsa-miR-3169	CLIP-seq
MIRT2512268	hsa-miR-3194-5p	CLIP-seq
MIRT738336	hsa-miR-3618	CLIP-seq
MIRT2512269	hsa-miR-3620	CLIP-seq
MIRT920302	hsa-miR-3655	CLIP-seq
MIRT2512270	hsa-miR-3663-5p	CLIP-seq
MIRT2512271	hsa-miR-3673	CLIP-seq
MIRT2512272	hsa-miR-3972	CLIP-seq
MIRT2512273	hsa-miR-4267	CLIP-seq
MIRT2512274	hsa-miR-4297	CLIP-seq
MIRT920311	hsa-miR-4305	CLIP-seq
MIRT2512275	hsa-miR-4328	CLIP-seq
MIRT2512276	hsa-miR-4426	CLIP-seq
MIRT2512277	hsa-miR-4522	CLIP-seq
MIRT2512278	hsa-miR-4647	CLIP-seq
MIRT2512279	hsa-miR-4662b	CLIP-seq
MIRT2512280	hsa-miR-4687-3p	CLIP-seq
MIRT2512281	hsa-miR-4694-3p	CLIP-seq
MIRT920324	hsa-miR-4698	CLIP-seq
MIRT2512282	hsa-miR-4759	CLIP-seq
MIRT2512283	hsa-miR-4766-3p	CLIP-seq
MIRT2512284	hsa-miR-4774-3p	CLIP-seq
MIRT920328	hsa-miR-4777-5p	CLIP-seq
MIRT920335	hsa-miR-518d-5p	CLIP-seq
MIRT920336	hsa-miR-519b-5p	CLIP-seq
MIRT920337	hsa-miR-519c-5p	CLIP-seq
MIRT920338	hsa-miR-520c-5p	CLIP-seq
MIRT920339	hsa-miR-526a	CLIP-seq
MIRT2512285	hsa-miR-548p	CLIP-seq
MIRT1972750	hsa-miR-601	CLIP-seq
MIRT2512286	hsa-miR-613	CLIP-seq
MIRT2512287	hsa-miR-891a	CLIP-seq
MIRT738335	hsa-miR-1283	CLIP-seq
MIRT2512261	hsa-miR-135a	CLIP-seq
MIRT2512262	hsa-miR-135b	CLIP-seq
MIRT1972723	hsa-miR-1909	CLIP-seq
MIRT2678955	hsa-miR-298	CLIP-seq
MIRT2678956	hsa-miR-3074-5p	CLIP-seq
MIRT738336	hsa-miR-3618	CLIP-seq
MIRT2512269	hsa-miR-3620	CLIP-seq
MIRT2512270	hsa-miR-3663-5p	CLIP-seq
MIRT2678957	hsa-miR-3665	CLIP-seq
MIRT2678958	hsa-miR-370	CLIP-seq
MIRT920316	hsa-miR-4477a	CLIP-seq
MIRT2678959	hsa-miR-4533	CLIP-seq
MIRT2512280	hsa-miR-4687-3p	CLIP-seq
MIRT1972746	hsa-miR-4747-5p	CLIP-seq
MIRT1972747	hsa-miR-495	CLIP-seq
MIRT2678960	hsa-miR-552	CLIP-seq
MIRT1972750	hsa-miR-601	CLIP-seq
MIRT2678961	hsa-miR-657	CLIP-seq
MIRT2678962	hsa-miR-764	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
LEF1	Repression	22157808
LEF1	Unknown	24577083

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002376	Process	Immune system process	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IBA
GO:0004843	Function	Cysteine-type deubiquitinase activity	IDA	18313383, 18636086, 27458237, 27591049
GO:0004843	Function	Cysteine-type deubiquitinase activity	IEA
GO:0004843	Function	Cysteine-type deubiquitinase activity	TAS
GO:0005515	Function	Protein binding	IPI	18636086, 19615732, 19893491, 20227366, 22057290, 24981860, 25134987, 26997266, 27307491, 27458237, 27545878, 27591049
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	25134987
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IDA	25134987
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	18313383
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IEA
GO:0005881	Component	Cytoplasmic microtubule	IDA	17495026
GO:0005886	Component	Plasma membrane	IEA
GO:0006508	Process	Proteolysis	IEA
GO:0007249	Process	Canonical NF-kappaB signal transduction	IDA	1406630, 34721373
GO:0007346	Process	Regulation of mitotic cell cycle	IBA
GO:0007346	Process	Regulation of mitotic cell cycle	IMP	17495026
GO:0008233	Function	Peptidase activity	IEA
GO:0008234	Function	Cysteine-type peptidase activity	IEA
GO:0008270	Function	Zinc ion binding	IDA	18313383
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	20194890
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	IDA	26997266, 27458237, 27591049
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	IEA
GO:0010803	Process	Regulation of tumor necrosis factor-mediated signaling pathway	TAS
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016579	Process	Protein deubiquitination	IDA	29291351
GO:0016579	Process	Protein deubiquitination	IEA
GO:0016579	Process	Protein deubiquitination	TAS
GO:0016787	Function	Hydrolase activity	IEA
GO:0019901	Function	Protein kinase binding	IPI	17495026, 18636086
GO:0030496	Component	Midbody	IDA	17495026
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	IDA	18313383
GO:0032480	Process	Negative regulation of type I interferon production	TAS
GO:0034451	Component	Centriolar satellite	IDA
GO:0035872	Process	Nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway	TAS
GO:0036064	Component	Ciliary basal body	IDA
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042742	Process	Defense response to bacterium	IDA	11460167, 18079694
GO:0042995	Component	Cell projection	IEA
GO:0043123	Process	Positive regulation of canonical NF-kappaB signal transduction	IDA	9346484, 11460167, 18079694
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	25038658
GO:0043124	Process	Negative regulation of canonical NF-kappaB signal transduction	IDA	27746020
GO:0043226	Component	Organelle	IEA
GO:0043369	Process	CD4-positive or CD8-positive, alpha-beta T cell lineage commitment	IEA
GO:0045087	Process	Innate immune response	IDA	26997266
GO:0045087	Process	Innate immune response	IEA
GO:0045577	Process	Regulation of B cell differentiation	IEA
GO:0045582	Process	Positive regulation of T cell differentiation	IEA
GO:0046329	Process	Negative regulation of JNK cascade	IBA
GO:0046329	Process	Negative regulation of JNK cascade	IDA	29291351
GO:0046329	Process	Negative regulation of JNK cascade	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048872	Process	Homeostasis of number of cells	IEA
GO:0050727	Process	Regulation of inflammatory response	IDA	27591049
GO:0050728	Process	Negative regulation of inflammatory response	IEA
GO:0050728	Process	Negative regulation of inflammatory response	ISS
GO:0050862	Process	Positive regulation of T cell receptor signaling pathway	IEA
GO:0060544	Process	Regulation of necroptotic process	IDA	27458237
GO:0060544	Process	Regulation of necroptotic process	IEA
GO:0061578	Function	K63-linked deubiquitinase activity	EXP	26997266
GO:0061578	Function	K63-linked deubiquitinase activity	IBA
GO:0061578	Function	K63-linked deubiquitinase activity	IDA	18313383, 26997266, 27746020, 29291351
GO:0061578	Function	K63-linked deubiquitinase activity	IEA
GO:0061578	Function	K63-linked deubiquitinase activity	TAS
GO:0061815	Function	Met1-linked polyubiquitin deubiquitinase activity	EXP	26997266
GO:0070064	Function	Proline-rich region binding	IPI	15341735
GO:0070266	Process	Necroptotic process	IBA
GO:0070266	Process	Necroptotic process	IEA
GO:0070507	Process	Regulation of microtubule cytoskeleton organization	IMP	20194890
GO:0070536	Process	Protein K63-linked deubiquitination	IBA
GO:0070536	Process	Protein K63-linked deubiquitination	IEA
GO:0090090	Process	Negative regulation of canonical Wnt signaling pathway	IMP	20227366
GO:0097542	Component	Ciliary tip	IEA
GO:0097542	Component	Ciliary tip	ISS
GO:1901026	Process	Ripoptosome assembly involved in necroptotic process	IEA
GO:1901223	Process	Negative regulation of non-canonical NF-kappaB signal transduction	IBA
GO:1901223	Process	Negative regulation of non-canonical NF-kappaB signal transduction	IDA	18313383
GO:1902017	Process	Regulation of cilium assembly	IEA
GO:1902017	Process	Regulation of cilium assembly	ISS
GO:1903753	Process	Negative regulation of p38MAPK cascade	IBA
GO:1903753	Process	Negative regulation of p38MAPK cascade	IDA	29291351
GO:1903753	Process	Negative regulation of p38MAPK cascade	IEA
GO:1903829	Process	Positive regulation of protein localization	IEA
GO:1990108	Process	Protein linear deubiquitination	IDA	26997266, 27458237, 27591049
GO:1990108	Process	Protein linear deubiquitination	IEA
GO:1990380	Function	K48-linked deubiquitinase activity	IEA
GO:2000493	Process	Negative regulation of interleukin-18-mediated signaling pathway	IEA
GO:2000493	Process	Negative regulation of interleukin-18-mediated signaling pathway	ISS
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IBA
GO:2001238	Process	Positive regulation of extrinsic apoptotic signaling pathway	IMP	21525013
GO:2001242	Process	Regulation of intrinsic apoptotic signaling pathway	IBA
GO:2001242	Process	Regulation of intrinsic apoptotic signaling pathway	IMP	21525013

Other IDs

• MIM: 605018
• HGNC: 2584
• e!Ensembl: ENSG00000083799

Protein

• UniProt ID: Q9NQC7
• Protein name: Ubiquitin carboxyl-terminal hydrolase CYLD (EC 3.4.19.12) (Deubiquitinating enzyme CYLD) (Ubiquitin thioesterase CYLD) (Ubiquitin-specific-processing protease CYLD)
• Protein function: Deubiquitinase that specifically cleaves 'Lys-63'- and linear 'Met-1'-linked polyubiquitin chains and is involved in NF-kappa-B activation and TNF-alpha-induced necroptosis (PubMed:18313383, PubMed:18636086, PubMed:26670046, PubMed:26997266, Pub
• PDB: 1IXD, 1WHL, 1WHM, 2VHF, 7OWC, 7OWD
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01302	CAP_GLY	127 → 202	CAP-Gly domain	Domain
  PF16607	CYLD_phos_site	307 → 471		Disordered
  PF01302	CAP_GLY	472 → 539	CAP-Gly domain	Domain
  PF00443	UCH	592 → 894	Ubiquitin carboxyl-terminal hydrolase	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in fetal brain, testis, and skeletal muscle, and at a lower level in adult brain, leukocytes, liver, heart, kidney, spleen, ovary and lung. Isoform 2 is found in all tissues except kidney. {ECO:0000269|PubMed:10835629, ECO:000
• Sequence:

  MSSGLWSQEKVTSPYWEERIFYLLLQECSVTDKQTQKLLKVPKGSIGQYIQDRSVGHSRI
  PSAKGKKNQIGLKILEQPHAVLFVDEKDVVEINEKFTELLLAITNCEERFSLFKNRNRLS
  KGLQIDVGCPVKVQLRSGEEKFPGVVRFRGPLLAERTVSGIFFGVELLEEGRGQGFTDGV
  YQGKQLFQCDEDCGVFVALDKLELIEDDDTALESDYAGPGDTMQVELPPLEINSRVSLKV
  GETIESGTVIFCDVLPGKESLGYFVGVDMDNPIGNWDGRFDGVQLCSFACVESTILLHIN
  DIIPALSESVTQERRPPKLAFMSRGVGDKGSSSHNKPKATGSTSDPGNRNRSELFYTLNG
  SSVDSQPQSKSKNTWYIDEVAEDPAKSLTEISTDFDRSSPPLQPPPVNSLTTENRFHSLP
  FSLTKMPNTNGSIGHSPLSLSAQSVMEELNTAPVQESPPLAMPPGNSHGLEVGSLAEVKE
  NPPFYGVIRWIGQPPGLNEVLAGLELEDECAGCTDGTFRGTRYFTCALKKALFVKLKSCR
  PDSRFASLQPVSNQIERCNSLAFGGYLSEVVEENTPPKMEKEGLEIMIGKKKGIQGHYNS
  CYLDSTLFCLFAFSSVLDTVLLRPKEKNDVEYYSETQELLRTEIVNPLRIYGYVCATKIM
  KLRKILEKVEAASGFTSEEKDPEEFLNILFHHILRVEPLLKIRSAGQKVQDCYFYQIFME
  KNEKVGVPTIQQLLEWSFINSNLKFAEAPSCLIIQMPRFGKDFKLFKKIFPSLELNITDL
  LEDTPRQCRICGGLAMYECRECYDDPDISAGKIKQFCKTCNTQVHLHPKRLNHKYNPVSL
  PKDLPDWDWRHGCIPCQNMELFAVLCIETSHYVAFVKYGKDDSAWLFFDSMADRDGGQNG
  FNIPQVTPCPEVGEYLKMSLEDLHSLDSRRIQGCARRLLCDAYMCMYQSPTMSLYK

• Sequence length: 956

Pathways

KEGG:

NF-kappa B signaling pathway
Necroptosis
Osteoclast differentiation
RIG-I-like receptor signaling pathway
C-type lectin receptor signaling pathway
TNF signaling pathway

Reactome:

NOD1/2 Signaling Pathway
TNFR1-induced proapoptotic signaling
Regulation of TNFR1 signaling
TNFR1-induced NFkappaB signaling pathway
Ub-specific processing proteases
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
Brooke-Spiegler syndrome	Likely pathogenic; Pathogenic	rs2506862962, rs2506903755, rs121908388, rs1597088499, rs2506802256, rs121908389, rs121908390, rs1597052041, rs886040870, rs886040872, rs886040874, rs886040875, rs886040884, rs886040885, rs886040887, rs886040888	RCV002462824 RCV002466819 RCV005234779 RCV000005567 RCV000005568 RCV000005572 RCV000005575 RCV000005577 RCV000257938 RCV001814137 RCV000257987 RCV000257947 RCV000257955 RCV000257982 RCV003988838 RCV002466483	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CYLD-related disorder	Pathogenic; Likely pathogenic	rs2506820899, rs1971543762	RCV003408406 RCV003922067	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial cylindromatosis	Pathogenic; Likely pathogenic	rs1597091470, rs121908388, rs1597088499, rs121908390, rs1596971597, rs2151015263, rs886040868, rs886040869, rs886040871, rs886040872, rs764952788, rs886040873, rs886040876, rs886040879, rs886040882, rs886040886, rs886040887, rs886040888, rs886040890, rs886040891, rs886040892, rs886040893, rs886040894, rs2506716542, rs1971445448	RCV000005564 RCV000005565 RCV000005566 RCV000005573 RCV000005576 RCV000005578 RCV000257953 RCV000257981 RCV000257964 RCV000257976 RCV000257934 RCV000257960 RCV000257967 RCV000257974 RCV000257975 RCV000258001 RCV000257950 RCV000257977 RCV000257951 RCV000257985 RCV000257939 RCV000257968 RCV000257992 RCV003994641 RCV001257399	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial multiple trichoepitheliomata	Pathogenic; Likely pathogenic	rs1597085967, rs1597058708, rs121908389, rs121908390	RCV000005569 RCV000005570 RCV000005571 RCV000005574	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 8	Likely pathogenic; Pathogenic	rs121908390, rs886040872, rs886040888, rs2506514993	RCV002496269 RCV005016661 RCV003469208 RCV003468614	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple monogenic benign skin tumours	Likely pathogenic; Pathogenic	rs121908390	RCV006268069	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple myeloma	Likely pathogenic	rs1597073318	RCV000984131	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SLC35A2-congenital disorder of glycosylation	Pathogenic	rs886040888	RCV005861098	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Trichoepithelioma, multiple familial, 1	Likely pathogenic; Pathogenic	rs121908390, rs886040872, rs886040887	RCV002496269 RCV001814137 RCV003988838	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS	—	Disgenet, GenCC Disgenet, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTHMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, NON-SMALL-CELL LUNG	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CYLINDROMATOSIS, FAMILIAL	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	-; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEPROSY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichoepithelioma, multiple familial, 2	Benign; Uncertain significance; Conflicting classifications of pathogenicity	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE CERVICAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	28326171		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	27920277		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	20628822, 27855466, 29463883, 30964341		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	21698003, 29455652		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27966832		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	16627981, 18008375, 18234730, 19462465, 20227366, 21552290, 21598248, 26969893, 29569226, 8649842		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	30306452		★☆☆☆☆ Found in Text Mining only
Adenoma, Basal Cell	Adenoma	BEFREE	29463883		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	10521263		★☆☆☆☆ Found in Text Mining only
Alkaptonuria	Alkaptonuria	BEFREE	22850426, 27454006		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36000313	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	31055149, 31747135		★☆☆☆☆ Found in Text Mining only
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	10521263		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	36000313	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anus Neoplasms	Anus neoplasm	Pubtator	32461623	Associate	★☆☆☆☆ Found in Text Mining only
Apraxia, Developmental Verbal	Apraxia	BEFREE	28390808		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18245814		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	27130862, 27372382		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astigmatism	Astigmatism	BEFREE	27838367, 29321616		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	18245814		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	26276688	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28525943, 29344161, 6407543		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	23137018, 23504527, 27855466, 30871476		★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	30292168		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19481526, 24398777, 27865894, 28733879, 30465055		★☆☆☆☆ Found in Text Mining only
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	CLINGEN_DG	10835629, 12917690, 14632188, 16484982, 16713561, 17662085, 17851586, 19807742, 20227366		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	UNIPROT_DG	12190880, 12950348, 14632188, 15854031		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	BEFREE	12950348, 14632188, 15854031, 17083363, 19668078, 19929939, 20132422, 20151946, 20972631, 22077640, 22689134, 23171463, 23249834, 24559443, 25131725, 25347032, 26329847, 26660106, 26861065, 27185061, 29962004, 31624251		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	CTD_human_DG	18234730		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Brooke-Spiegler syndrome	Brooke-Spiegler Syndrome	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinogenesis	Carcinogenesis	Pubtator	12917690, 16900776, 17495026, 26276688	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15133472, 20838385		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	15854031, 16627981, 16900776, 17495026, 21552290, 23778141, 25951887, 26660106, 26969893, 29569226, 31101826, 32461623, 32892208	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Basal cell carcinoma	Pubtator	32461623, 36309102	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Endometrioid	Endometrioid carcinoma	Pubtator	35779906	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	16627981, 27310251, 27955658, 32184568, 36720665	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25329885	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	22017589, 27602766		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25910754	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	BEFREE	21577203, 22689134		★☆☆☆☆ Found in Text Mining only
Carcinoma, Basal Cell	Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28898232, 31233771		★☆☆☆☆ Found in Text Mining only
Carcinoma, Spindle-Cell	Carcinoma	BEFREE	21900959		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	27679403		★☆☆☆☆ Found in Text Mining only
Cerebellar edema	Cerebellar edema	BEFREE	29133459		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	CTD_human_DG	29477382		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholesteatoma	Cholesteatoma	Pubtator	20414373, 33031450	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	22157808, 28566736		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	30315770		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	39333335	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28675510, 32364424	Associate	★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28582447		★☆☆☆☆ Found in Text Mining only
Craniodiaphyseal Dysplasia Autosomal Dominant	Craniodiaphyseal dysplasia	Pubtator	27955658	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	17804789		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	23071489, 24092863, 30315770		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	23071489	Associate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	19917957	Associate	★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	26861065		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	27813325		★☆☆☆☆ Found in Text Mining only
Eccrine dermal cylindroma	Cylindromatosis	BEFREE	11756779, 12190880, 15086550, 16627981, 16922728, 17083363, 18008375, 18245814, 20227366, 20972631, 21552290, 21598248, 25782638, 26861065, 26969893, 31260673		★☆☆☆☆ Found in Text Mining only
Eccrine dermal cylindroma	Cylindromatosis	CTD_human_DG	18234730		★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	30146789		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	30243603		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	18497076		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	35779906	Associate	★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	28898232		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	23504527, 28740506		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	28740506		★☆☆☆☆ Found in Text Mining only
Familial Amyloid Polyneuropathy, Type V	Amyloid Polyneuropathy	BEFREE	31829761		★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	12190880, 12917690, 14632188, 15086550, 15496400, 15854031, 16900776, 17851586, 18313383, 19917957, 20972631, 25501176, 25565632, 26329847, 26660106, 26969893, 29962004, 31260673, 31624251, 9783709	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cylindromatosis	Familial cylindromatosis	Pubtator	16301742, 18222923	Inhibit	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cylindromatosis	Cylindromatosis	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial multiple trichoepithelioma	Multiple Trichoepithelioma	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	UNIPROT_DG	14632188, 16307661, 16922728		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	15024746, 15086550, 15854031, 16922728, 19076795, 19462465, 19911186, 20972631, 22049921, 25234269, 25347032, 25782638, 26861065, 28640357, 30809827, 31538255		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	CTD_human_DG	18234730		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	ORPHANET_DG	19462465		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	36000313	Associate	★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	26369544, 30132887		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	17581270, 31800492		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	21408173	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26017671, 28901464	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	27296952		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	27296952		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	16169466		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	28270164, 28295216	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head And Neck Neoplasms	CGI_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	25130432		★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	BEFREE	12028655		★☆☆☆☆ Found in Text Mining only
HEMOCHROMATOSIS, TYPE 1	Hemochromatosis	BEFREE	12028655		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	15133472	Inhibit	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25951887	Associate	★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	LHGDN	17606441		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	17606441	Associate	★☆☆☆☆ Found in Text Mining only
Hypofibrinogenemia	Hypofibrinogenemia	BEFREE	30447673		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	23876007		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28192890		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasm	Kidney Neoplasm	BEFREE	11756779		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	Leopard syndrome	Pubtator	19917957, 29955768, 31624251	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	37549179	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	37549179	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, T-Cell	T-cell leukemia	BEFREE	20832754, 21389783		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	16627981, 16774947, 25329885, 25449782, 27310251, 27570065, 27955658		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16627981, 16774947		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21109933		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	36720665	Associate	★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	16316951		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus nephritis	Pubtator	29166644	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	36922488	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	CGI_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19481526, 24398777, 27865894, 28733879, 30465055		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	18497076		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	28740506		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	22017589, 27602766		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	31233771		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of skin	Skin cancer	BEFREE	21478324, 21900959		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	28537672, 30132887		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18008375, 18193168, 19124656, 20132422, 20628822, 20797623, 20838385, 21345146, 21577203, 21900959, 23300340, 25130432, 26660106, 28362430, 29296520, 29486416, 30196356, 30616036, 30631004		★☆☆☆☆ Found in Text Mining only
Marie Unna congenital hypotrichosis	Marie Unna hypotrichosis	BEFREE	30809827		★☆☆☆☆ Found in Text Mining only
Marinesco-Sjogren syndrome	Marinesco-Sjogren Syndrome	BEFREE	28675510		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	19124656, 29344161, 31233771		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32252875, 34497368	Associate	★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	23273756		★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	27775078		★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis III	Mucopolysaccharidosis	BEFREE	29916295		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	17609426		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Multiple Myeloma	Multiple myeloma	Pubtator	17609426, 17692804, 17692805, 34269120	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28840581		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	28098136		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	28098136, 35131382, 35562651, 38287022	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10480375, 11756779, 12190880, 15133472, 16627981, 16713556, 16774947, 17606441, 18008375, 18193168, 18313383, 18799932, 19076795, 19124656, 19481526, 19893491, 19917957, 20227366, 20571065, 20607853, 20838385, 21345146, 21478324, 21552290, 21598248, 21900959, 22588548, 23562784, 24495516, 24909169, 25130432, 25299233, 25329885, 25449782, 26969893, 27570065, 27602766, 27775078, 27890238, 28270164, 28566736, 28675510, 28733879, 28840581, 29174033, 29344161, 29463883, 29569226, 29974194, 30144476, 30148621, 30631004, 30770859, 31067453, 31260673, 31366726, 31431259, 31441580, 31549130, 31624251, 8649842, 9783709		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	30305086		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	24909169		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	CTD_human_DG	17043644		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	29985356		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	31233771		★☆☆☆☆ Found in Text Mining only
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	29135119		★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	25550803		★☆☆☆☆ Found in Text Mining only
Parathyroid Neoplasms	Parathyroid Neoplasms	BEFREE	24559443		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31354022		★☆☆☆☆ Found in Text Mining only
Peptic Esophagitis	Peptic Esophagitis	BEFREE	17581270		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34092220	Associate	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	35025147	Inhibit	★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	35025147	Associate	★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	20832754, 21389783, 22362744, 25130432		★☆☆☆☆ Found in Text Mining only
Premature aging syndrome	Premature aging	BEFREE	30631004		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	23300340		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	38246916	Inhibit	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	19554025		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	Pubtator	19554025	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	22491319		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28582447		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	27679403		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	16255021		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	16900776	Associate	★☆☆☆☆ Found in Text Mining only
Skin carcinoma	Skin Carcinoma	BEFREE	21900959		★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	BEFREE	30570607		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	16713556, 25565632, 28270164, 31624251	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	19893491, 20227366, 20838385, 21478324, 21900959, 28270164, 31624251		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	20838385, 21478324, 21900959, 25910754		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29455652		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	26982322	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	31635163, 32892208, 35634245	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	28537672, 30132887		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24495516, 26711782, 28537672	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32626985	Associate	★☆☆☆☆ Found in Text Mining only
Thymic Carcinoma	Thymic Carcinoma	CTD_human_DG	24974848		★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	CTD_human_DG	24974848		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	25550803	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28042876		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	30269739	Associate	★☆☆☆☆ Found in Text Mining only
Undifferentiated carcinoma	Carcinoma	BEFREE	21698003		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CTD_human_DG	29477382		★☆☆☆☆ Found in Text Mining only