TBCEL (tubulin folding cofactor E like)

Gene

• Entrez ID: 219899
• Gene name: Tubulin folding cofactor E like
• Gene symbol: TBCEL
• Synonyms (NCBI Gene): El, LRRC35
• Chromosome: 11
• Chromosome location: 11q23.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT049522	hsa-miR-92a-3p	CLASH	23622248
MIRT520800	hsa-miR-5692a	HITS-CLIP	21572407
MIRT520799	hsa-miR-3163	HITS-CLIP	21572407
MIRT520797	hsa-miR-3924	HITS-CLIP	21572407
MIRT058369	hsa-miR-3123	PAR-CLIP	21572407
MIRT533905	hsa-miR-4795-5p	PAR-CLIP	21572407
MIRT058371	hsa-miR-3616-5p	PAR-CLIP	21572407
MIRT058365	hsa-miR-573	PAR-CLIP	21572407
MIRT520800	hsa-miR-5692a	PAR-CLIP	21572407
MIRT520799	hsa-miR-3163	PAR-CLIP	21572407
MIRT520797	hsa-miR-3924	PAR-CLIP	21572407
MIRT546347	hsa-miR-4799-5p	PAR-CLIP	21572407
MIRT520796	hsa-miR-587	PAR-CLIP	21572407
MIRT520800	hsa-miR-5692a	PAR-CLIP	21572407
MIRT520799	hsa-miR-3163	PAR-CLIP	21572407
MIRT546348	hsa-miR-6074	PAR-CLIP	21572407
MIRT520797	hsa-miR-3924	PAR-CLIP	21572407
MIRT546347	hsa-miR-4799-5p	PAR-CLIP	21572407
MIRT058369	hsa-miR-3123	PAR-CLIP	22012620
MIRT533905	hsa-miR-4795-5p	PAR-CLIP	22012620
MIRT058371	hsa-miR-3616-5p	PAR-CLIP	22012620
MIRT058365	hsa-miR-573	PAR-CLIP	22012620
MIRT520800	hsa-miR-5692a	PAR-CLIP	23446348
MIRT520799	hsa-miR-3163	PAR-CLIP	23446348
MIRT520798	hsa-miR-885-5p	PAR-CLIP	23446348
MIRT520797	hsa-miR-3924	PAR-CLIP	23446348
MIRT520796	hsa-miR-587	PAR-CLIP	23446348
MIRT441556	hsa-miR-6757-3p	PAR-CLIP	22100165
MIRT441557	hsa-miR-875-3p	PAR-CLIP	22100165
MIRT441555	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT441554	hsa-miR-5093	PAR-CLIP	22100165
MIRT441553	hsa-miR-3926	PAR-CLIP	22100165
MIRT441552	hsa-miR-663b	PAR-CLIP	22100165
MIRT441551	hsa-miR-548s	PAR-CLIP	22100165
MIRT441550	hsa-miR-7108-5p	PAR-CLIP	22100165
MIRT520800	hsa-miR-5692a	HITS-CLIP	21572407
MIRT520799	hsa-miR-3163	HITS-CLIP	21572407
MIRT520797	hsa-miR-3924	HITS-CLIP	21572407
MIRT058369	hsa-miR-3123	PAR-CLIP	21572407
MIRT533905	hsa-miR-4795-5p	PAR-CLIP	21572407
MIRT058371	hsa-miR-3616-5p	PAR-CLIP	21572407
MIRT058365	hsa-miR-573	PAR-CLIP	21572407
MIRT520800	hsa-miR-5692a	PAR-CLIP	21572407
MIRT520799	hsa-miR-3163	PAR-CLIP	21572407
MIRT520797	hsa-miR-3924	PAR-CLIP	21572407
MIRT546347	hsa-miR-4799-5p	PAR-CLIP	21572407
MIRT520796	hsa-miR-587	PAR-CLIP	21572407
MIRT520800	hsa-miR-5692a	PAR-CLIP	21572407
MIRT520799	hsa-miR-3163	PAR-CLIP	21572407
MIRT546348	hsa-miR-6074	PAR-CLIP	21572407
MIRT520797	hsa-miR-3924	PAR-CLIP	21572407
MIRT546347	hsa-miR-4799-5p	PAR-CLIP	21572407
MIRT058369	hsa-miR-3123	PAR-CLIP	22012620
MIRT533905	hsa-miR-4795-5p	PAR-CLIP	22012620
MIRT058371	hsa-miR-3616-5p	PAR-CLIP	22012620
MIRT058365	hsa-miR-573	PAR-CLIP	22012620
MIRT520800	hsa-miR-5692a	PAR-CLIP	23446348
MIRT520799	hsa-miR-3163	PAR-CLIP	23446348
MIRT520798	hsa-miR-885-5p	PAR-CLIP	23446348
MIRT520797	hsa-miR-3924	PAR-CLIP	23446348
MIRT520796	hsa-miR-587	PAR-CLIP	23446348
MIRT441556	hsa-miR-6757-3p	PAR-CLIP	22100165
MIRT441557	hsa-miR-875-3p	PAR-CLIP	22100165
MIRT441555	hsa-miR-203a-3p	PAR-CLIP	22100165
MIRT441554	hsa-miR-5093	PAR-CLIP	22100165
MIRT441553	hsa-miR-3926	PAR-CLIP	22100165
MIRT441552	hsa-miR-663b	PAR-CLIP	22100165
MIRT441551	hsa-miR-548s	PAR-CLIP	22100165
MIRT441550	hsa-miR-7108-5p	PAR-CLIP	22100165
MIRT1414117	hsa-miR-106a	CLIP-seq
MIRT1414118	hsa-miR-106b	CLIP-seq
MIRT1414119	hsa-miR-1253	CLIP-seq
MIRT1414120	hsa-miR-1298	CLIP-seq
MIRT1414121	hsa-miR-1343	CLIP-seq
MIRT1414122	hsa-miR-146a	CLIP-seq
MIRT1414123	hsa-miR-146b-5p	CLIP-seq
MIRT1414124	hsa-miR-17	CLIP-seq
MIRT1414125	hsa-miR-1913	CLIP-seq
MIRT1414126	hsa-miR-204	CLIP-seq
MIRT1414127	hsa-miR-20a	CLIP-seq
MIRT1414128	hsa-miR-20b	CLIP-seq
MIRT1414129	hsa-miR-211	CLIP-seq
MIRT1414130	hsa-miR-29a	CLIP-seq
MIRT1414131	hsa-miR-29b	CLIP-seq
MIRT1414132	hsa-miR-29c	CLIP-seq
MIRT1414133	hsa-miR-302a	CLIP-seq
MIRT1414134	hsa-miR-302b	CLIP-seq
MIRT1414135	hsa-miR-302c	CLIP-seq
MIRT1414136	hsa-miR-302d	CLIP-seq
MIRT1414137	hsa-miR-302e	CLIP-seq
MIRT1414138	hsa-miR-3065-3p	CLIP-seq
MIRT1414139	hsa-miR-3074-5p	CLIP-seq
MIRT1414140	hsa-miR-3146	CLIP-seq
MIRT1414141	hsa-miR-3189-5p	CLIP-seq
MIRT1414142	hsa-miR-324-3p	CLIP-seq
MIRT1414143	hsa-miR-329	CLIP-seq
MIRT1414144	hsa-miR-3613-3p	CLIP-seq
MIRT1414145	hsa-miR-3618	CLIP-seq
MIRT1414146	hsa-miR-362-3p	CLIP-seq
MIRT1414147	hsa-miR-3646	CLIP-seq
MIRT1414148	hsa-miR-3675-3p	CLIP-seq
MIRT1414149	hsa-miR-3690	CLIP-seq
MIRT1414150	hsa-miR-369-3p	CLIP-seq
MIRT1414151	hsa-miR-372	CLIP-seq
MIRT1414152	hsa-miR-373	CLIP-seq
MIRT1414153	hsa-miR-374a	CLIP-seq
MIRT1414154	hsa-miR-374b	CLIP-seq
MIRT1414155	hsa-miR-3941	CLIP-seq
MIRT1414156	hsa-miR-4254	CLIP-seq
MIRT1414157	hsa-miR-4275	CLIP-seq
MIRT1414158	hsa-miR-4287	CLIP-seq
MIRT1414159	hsa-miR-4422	CLIP-seq
MIRT1414160	hsa-miR-4436b-5p	CLIP-seq
MIRT1414161	hsa-miR-4437	CLIP-seq
MIRT1414162	hsa-miR-4639-5p	CLIP-seq
MIRT1414163	hsa-miR-4653-3p	CLIP-seq
MIRT1414164	hsa-miR-466	CLIP-seq
MIRT1414165	hsa-miR-4661-5p	CLIP-seq
MIRT1414166	hsa-miR-4666-5p	CLIP-seq
MIRT1414167	hsa-miR-4672	CLIP-seq
MIRT1414168	hsa-miR-4685-3p	CLIP-seq
MIRT1414169	hsa-miR-4726-3p	CLIP-seq
MIRT1414170	hsa-miR-4727-5p	CLIP-seq
MIRT1414171	hsa-miR-4758-3p	CLIP-seq
MIRT1414172	hsa-miR-519d	CLIP-seq
MIRT1414173	hsa-miR-520a-3p	CLIP-seq
MIRT1414174	hsa-miR-520b	CLIP-seq
MIRT1414175	hsa-miR-520c-3p	CLIP-seq
MIRT1414176	hsa-miR-520d-3p	CLIP-seq
MIRT1414177	hsa-miR-520e	CLIP-seq
MIRT1414178	hsa-miR-520f	CLIP-seq
MIRT1414179	hsa-miR-539	CLIP-seq
MIRT1414180	hsa-miR-544	CLIP-seq
MIRT1414181	hsa-miR-548c-3p	CLIP-seq
MIRT1414182	hsa-miR-548t	CLIP-seq
MIRT1414183	hsa-miR-568	CLIP-seq
MIRT1414184	hsa-miR-580	CLIP-seq
MIRT1414185	hsa-miR-589	CLIP-seq
MIRT1414186	hsa-miR-590-3p	CLIP-seq
MIRT1414187	hsa-miR-591	CLIP-seq
MIRT1414188	hsa-miR-603	CLIP-seq
MIRT1414189	hsa-miR-891b	CLIP-seq
MIRT1414190	hsa-miR-93	CLIP-seq
MIRT1414191	hsa-miR-934	CLIP-seq
MIRT1414157	hsa-miR-4275	CLIP-seq
MIRT2124255	hsa-miR-3607-3p	CLIP-seq
MIRT2124256	hsa-miR-3686	CLIP-seq
MIRT2124257	hsa-miR-9	CLIP-seq
MIRT1414144	hsa-miR-3613-3p	CLIP-seq
MIRT2124258	hsa-miR-4469	CLIP-seq
MIRT1414170	hsa-miR-4727-5p	CLIP-seq
MIRT2346555	hsa-miR-155	CLIP-seq
MIRT2346556	hsa-miR-1915	CLIP-seq
MIRT2346557	hsa-miR-3117-5p	CLIP-seq
MIRT2346558	hsa-miR-3157-5p	CLIP-seq
MIRT2124255	hsa-miR-3607-3p	CLIP-seq
MIRT1414147	hsa-miR-3646	CLIP-seq
MIRT2124256	hsa-miR-3686	CLIP-seq
MIRT2346559	hsa-miR-376a	CLIP-seq
MIRT2346560	hsa-miR-376b	CLIP-seq
MIRT1414157	hsa-miR-4275	CLIP-seq
MIRT1414160	hsa-miR-4436b-5p	CLIP-seq
MIRT1414165	hsa-miR-4661-5p	CLIP-seq
MIRT2346561	hsa-miR-4691-3p	CLIP-seq
MIRT1414169	hsa-miR-4726-3p	CLIP-seq
MIRT1414187	hsa-miR-591	CLIP-seq
MIRT2346562	hsa-miR-758	CLIP-seq
MIRT2346557	hsa-miR-3117-5p	CLIP-seq
MIRT2346559	hsa-miR-376a	CLIP-seq
MIRT2346560	hsa-miR-376b	CLIP-seq
MIRT1414117	hsa-miR-106a	CLIP-seq
MIRT1414118	hsa-miR-106b	CLIP-seq
MIRT1414124	hsa-miR-17	CLIP-seq
MIRT1414127	hsa-miR-20a	CLIP-seq
MIRT1414128	hsa-miR-20b	CLIP-seq
MIRT1414133	hsa-miR-302a	CLIP-seq
MIRT1414134	hsa-miR-302b	CLIP-seq
MIRT1414135	hsa-miR-302c	CLIP-seq
MIRT1414136	hsa-miR-302d	CLIP-seq
MIRT1414137	hsa-miR-302e	CLIP-seq
MIRT1414151	hsa-miR-372	CLIP-seq
MIRT1414152	hsa-miR-373	CLIP-seq
MIRT1414172	hsa-miR-519d	CLIP-seq
MIRT1414173	hsa-miR-520a-3p	CLIP-seq
MIRT1414174	hsa-miR-520b	CLIP-seq
MIRT1414175	hsa-miR-520c-3p	CLIP-seq
MIRT1414176	hsa-miR-520d-3p	CLIP-seq
MIRT1414177	hsa-miR-520e	CLIP-seq
MIRT1414178	hsa-miR-520f	CLIP-seq
MIRT1414182	hsa-miR-548t	CLIP-seq
MIRT1414190	hsa-miR-93	CLIP-seq
MIRT1414121	hsa-miR-1343	CLIP-seq
MIRT2466209	hsa-miR-2276	CLIP-seq
MIRT1414139	hsa-miR-3074-5p	CLIP-seq
MIRT1414149	hsa-miR-3690	CLIP-seq
MIRT1414156	hsa-miR-4254	CLIP-seq
MIRT1414163	hsa-miR-4653-3p	CLIP-seq
MIRT1414117	hsa-miR-106a	CLIP-seq
MIRT1414118	hsa-miR-106b	CLIP-seq
MIRT2639185	hsa-miR-1208	CLIP-seq
MIRT2639186	hsa-miR-1236	CLIP-seq
MIRT2639187	hsa-miR-1250	CLIP-seq
MIRT1414120	hsa-miR-1298	CLIP-seq
MIRT1414121	hsa-miR-1343	CLIP-seq
MIRT2639188	hsa-miR-140-3p	CLIP-seq
MIRT2639189	hsa-miR-150	CLIP-seq
MIRT1414124	hsa-miR-17	CLIP-seq
MIRT2639190	hsa-miR-186	CLIP-seq
MIRT1414125	hsa-miR-1913	CLIP-seq
MIRT1414127	hsa-miR-20a	CLIP-seq
MIRT1414128	hsa-miR-20b	CLIP-seq
MIRT2639191	hsa-miR-2115	CLIP-seq
MIRT2466209	hsa-miR-2276	CLIP-seq
MIRT2639192	hsa-miR-2355-5p	CLIP-seq
MIRT2639193	hsa-miR-300	CLIP-seq
MIRT1414133	hsa-miR-302a	CLIP-seq
MIRT1414134	hsa-miR-302b	CLIP-seq
MIRT1414135	hsa-miR-302c	CLIP-seq
MIRT1414136	hsa-miR-302d	CLIP-seq
MIRT1414137	hsa-miR-302e	CLIP-seq
MIRT1414139	hsa-miR-3074-5p	CLIP-seq
MIRT2639194	hsa-miR-30a	CLIP-seq
MIRT2639195	hsa-miR-30b	CLIP-seq
MIRT2639196	hsa-miR-30c	CLIP-seq
MIRT2639197	hsa-miR-30d	CLIP-seq
MIRT2639198	hsa-miR-30e	CLIP-seq
MIRT2346557	hsa-miR-3117-5p	CLIP-seq
MIRT2639199	hsa-miR-3133	CLIP-seq
MIRT1414140	hsa-miR-3146	CLIP-seq
MIRT2639200	hsa-miR-3148	CLIP-seq
MIRT2639201	hsa-miR-3153	CLIP-seq
MIRT2639202	hsa-miR-3165	CLIP-seq
MIRT2639203	hsa-miR-3174	CLIP-seq
MIRT2639204	hsa-miR-3180-5p	CLIP-seq
MIRT1414141	hsa-miR-3189-5p	CLIP-seq
MIRT1414142	hsa-miR-324-3p	CLIP-seq
MIRT1414143	hsa-miR-329	CLIP-seq
MIRT2124255	hsa-miR-3607-3p	CLIP-seq
MIRT2639205	hsa-miR-3609	CLIP-seq
MIRT2639206	hsa-miR-361-3p	CLIP-seq
MIRT2639207	hsa-miR-3619-3p	CLIP-seq
MIRT1414146	hsa-miR-362-3p	CLIP-seq
MIRT2639208	hsa-miR-3667-3p	CLIP-seq
MIRT1414148	hsa-miR-3675-3p	CLIP-seq
MIRT2639209	hsa-miR-3679-3p	CLIP-seq
MIRT2639210	hsa-miR-3685	CLIP-seq
MIRT2124256	hsa-miR-3686	CLIP-seq
MIRT1414149	hsa-miR-3690	CLIP-seq
MIRT1414151	hsa-miR-372	CLIP-seq
MIRT1414152	hsa-miR-373	CLIP-seq
MIRT2639211	hsa-miR-381	CLIP-seq
MIRT2639212	hsa-miR-383	CLIP-seq
MIRT2639213	hsa-miR-384	CLIP-seq
MIRT1414155	hsa-miR-3941	CLIP-seq
MIRT1414156	hsa-miR-4254	CLIP-seq
MIRT2639214	hsa-miR-4286	CLIP-seq
MIRT2639215	hsa-miR-4311	CLIP-seq
MIRT2639216	hsa-miR-4423-5p	CLIP-seq
MIRT2639217	hsa-miR-4424	CLIP-seq
MIRT2639218	hsa-miR-4494	CLIP-seq
MIRT1414162	hsa-miR-4639-5p	CLIP-seq
MIRT2639219	hsa-miR-4643	CLIP-seq
MIRT1414163	hsa-miR-4653-3p	CLIP-seq
MIRT2639220	hsa-miR-4659a-5p	CLIP-seq
MIRT2639221	hsa-miR-4659b-5p	CLIP-seq
MIRT1414164	hsa-miR-466	CLIP-seq
MIRT2639222	hsa-miR-4666-3p	CLIP-seq
MIRT2639223	hsa-miR-4668-3p	CLIP-seq
MIRT2639224	hsa-miR-4668-5p	CLIP-seq
MIRT1414167	hsa-miR-4672	CLIP-seq
MIRT2639225	hsa-miR-4685-5p	CLIP-seq
MIRT2639226	hsa-miR-4713-5p	CLIP-seq
MIRT2639227	hsa-miR-4716-3p	CLIP-seq
MIRT1414170	hsa-miR-4727-5p	CLIP-seq
MIRT1414171	hsa-miR-4758-3p	CLIP-seq
MIRT2639228	hsa-miR-4776-3p	CLIP-seq
MIRT2639229	hsa-miR-4776-5p	CLIP-seq
MIRT2639230	hsa-miR-4789-3p	CLIP-seq
MIRT2639231	hsa-miR-4800-5p	CLIP-seq
MIRT2639232	hsa-miR-4803	CLIP-seq
MIRT2639233	hsa-miR-483-3p	CLIP-seq
MIRT2639234	hsa-miR-499a-5p	CLIP-seq
MIRT2639235	hsa-miR-500a	CLIP-seq
MIRT2639236	hsa-miR-508-5p	CLIP-seq
MIRT2639237	hsa-miR-513c	CLIP-seq
MIRT2639238	hsa-miR-514b-5p	CLIP-seq
MIRT2639239	hsa-miR-516a-3p	CLIP-seq
MIRT1414172	hsa-miR-519d	CLIP-seq
MIRT1414173	hsa-miR-520a-3p	CLIP-seq
MIRT2639240	hsa-miR-520a-5p	CLIP-seq
MIRT1414174	hsa-miR-520b	CLIP-seq
MIRT1414175	hsa-miR-520c-3p	CLIP-seq
MIRT1414176	hsa-miR-520d-3p	CLIP-seq
MIRT2639241	hsa-miR-520d-5p	CLIP-seq
MIRT1414177	hsa-miR-520e	CLIP-seq
MIRT1414178	hsa-miR-520f	CLIP-seq
MIRT2639242	hsa-miR-524-5p	CLIP-seq
MIRT2639243	hsa-miR-525-5p	CLIP-seq
MIRT2639244	hsa-miR-532-3p	CLIP-seq
MIRT1414180	hsa-miR-544	CLIP-seq
MIRT2639245	hsa-miR-548ah	CLIP-seq
MIRT1414181	hsa-miR-548c-3p	CLIP-seq
MIRT2639246	hsa-miR-548n	CLIP-seq
MIRT1414182	hsa-miR-548t	CLIP-seq
MIRT2639247	hsa-miR-552	CLIP-seq
MIRT1414188	hsa-miR-603	CLIP-seq
MIRT2639248	hsa-miR-625	CLIP-seq
MIRT2639249	hsa-miR-642b	CLIP-seq
MIRT2639250	hsa-miR-802	CLIP-seq
MIRT1414190	hsa-miR-93	CLIP-seq
MIRT2639203	hsa-miR-3174	CLIP-seq
MIRT2639205	hsa-miR-3609	CLIP-seq
MIRT2639212	hsa-miR-383	CLIP-seq
MIRT2639215	hsa-miR-4311	CLIP-seq
MIRT2639217	hsa-miR-4424	CLIP-seq
MIRT2639218	hsa-miR-4494	CLIP-seq
MIRT2639224	hsa-miR-4668-5p	CLIP-seq
MIRT2639232	hsa-miR-4803	CLIP-seq
MIRT2639234	hsa-miR-499a-5p	CLIP-seq
MIRT2639241	hsa-miR-520d-5p	CLIP-seq
MIRT2639242	hsa-miR-524-5p	CLIP-seq
MIRT2639245	hsa-miR-548ah	CLIP-seq
MIRT2639246	hsa-miR-548n	CLIP-seq
MIRT1414182	hsa-miR-548t	CLIP-seq
MIRT2639250	hsa-miR-802	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IBA
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0007021	Process	Tubulin complex assembly	IBA
GO:0007023	Process	Post-chaperonin tubulin folding pathway	IBA
GO:0043014	Function	Alpha-tubulin binding	IBA

Other IDs

• MIM: 610451
• HGNC: 28115
• e!Ensembl: ENSG00000154114

Protein

• UniProt ID: Q5QJ74
• Protein name: Tubulin-specific chaperone cofactor E-like protein (EL) (Leucine-rich repeat-containing protein 35)
• Protein function: Acts as a regulator of tubulin stability.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14580	LRR_9	179 → 307		Repeat
  PF14560	Ubiquitin_2	344 → 424	Ubiquitin-like domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Abundantly expressed in testis, but is also present in several tissues at a much lower level. {ECO:0000269|PubMed:15728251}.
• Sequence:

  MDQPSGRSFMQVLCEKYSPENFPYRRGPGMGVHVPATPQGSPMKDRLNLPSVLVLNSCGI
  TCAGDEKEIAAFCAHVSELDLSDNKLEDWHEVSKIVSNVPQLEFLNLSSNPLNLSVLERT
  CAGSFSGVRKLVLNNSKASWETVHMILQELPDLEELFLCLNDYETVSCPSICCHSLKLLH
  ITDNNLQDWTEIRKLGVMFPSLDTLVLANNHLNAIEEPDDSLARLFPNLRSISLHKSGLQ
  SWEDIDKLNSFPKLEEVRLLGIPLLQPYTTEERRKLVIARLPSVSKLNGSVVTDGEREDS
  ERFFIRYYVDVPQEEVPFRYHELITKYGKLEPLAEVDLRPQSSAKVEVHFNDQVEEMSIR
  LDQTVAELKKQLKTLVQLPTSNMLLYYFDHEAPFGPEEMKYSSRALHSFGIRDGDKIYVE
  SKTK

• Sequence length: 424

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
SENSORINEURAL HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TBCEL-related disorder	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	17717144		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	BEFREE	15316962, 8723097		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	2695084		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	22163036		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	22163036		★☆☆☆☆ Found in Text Mining only