COPZ1 (coat protein complex I subunit zeta 1)

Gene

• Entrez ID: 22818
• Gene name: Coat protein complex I subunit zeta 1
• Gene symbol: COPZ1
• Synonyms (NCBI Gene): CGI-120, COPZ, HSPC181, zeta-COP, zeta1-COP
• Chromosome: 12
• Chromosome location: 12q13.13
• Summary: This gene encodes a subunit of the cytoplasmic coatamer protein complex, which is involved in autophagy and intracellular protein trafficking. The coatomer protein complex is comprised of seven subunits and functions as the coat protein of coat protein co

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT023745	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT052614	hsa-let-7a-5p	CLASH	23622248
MIRT038152	hsa-miR-423-5p	CLASH	23622248
MIRT482737	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT482736	hsa-miR-6868-5p	PAR-CLIP	23592263
MIRT482735	hsa-miR-4804-3p	PAR-CLIP	23592263
MIRT482733	hsa-miR-4720-3p	PAR-CLIP	23592263
MIRT482734	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT482732	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT482731	hsa-miR-449a	PAR-CLIP	23592263
MIRT482730	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT482729	hsa-miR-548au-3p	PAR-CLIP	23592263
MIRT482728	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT482727	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT482737	hsa-miR-1296-3p	PAR-CLIP	23592263
MIRT482736	hsa-miR-6868-5p	PAR-CLIP	23592263
MIRT482735	hsa-miR-4804-3p	PAR-CLIP	23592263
MIRT482733	hsa-miR-4720-3p	PAR-CLIP	23592263
MIRT482734	hsa-miR-34a-5p	PAR-CLIP	23592263
MIRT482732	hsa-miR-34c-5p	PAR-CLIP	23592263
MIRT482731	hsa-miR-449a	PAR-CLIP	23592263
MIRT482730	hsa-miR-449b-5p	PAR-CLIP	23592263
MIRT482729	hsa-miR-548au-3p	PAR-CLIP	23592263
MIRT482728	hsa-miR-486-3p	PAR-CLIP	23592263
MIRT482727	hsa-miR-3151-5p	PAR-CLIP	23592263
MIRT904260	hsa-miR-1253	CLIP-seq
MIRT904261	hsa-miR-1264	CLIP-seq
MIRT904262	hsa-miR-1266	CLIP-seq
MIRT904263	hsa-miR-1270	CLIP-seq
MIRT904264	hsa-miR-127-5p	CLIP-seq
MIRT904265	hsa-miR-188-3p	CLIP-seq
MIRT904266	hsa-miR-196a	CLIP-seq
MIRT904267	hsa-miR-196b	CLIP-seq
MIRT904268	hsa-miR-1976	CLIP-seq
MIRT904269	hsa-miR-2276	CLIP-seq
MIRT904270	hsa-miR-3120-3p	CLIP-seq
MIRT904271	hsa-miR-3127-5p	CLIP-seq
MIRT904272	hsa-miR-3138	CLIP-seq
MIRT904273	hsa-miR-3157-3p	CLIP-seq
MIRT904274	hsa-miR-3184	CLIP-seq
MIRT904275	hsa-miR-3192	CLIP-seq
MIRT904276	hsa-miR-331-3p	CLIP-seq
MIRT904277	hsa-miR-339-5p	CLIP-seq
MIRT904278	hsa-miR-345	CLIP-seq
MIRT904279	hsa-miR-3607-5p	CLIP-seq
MIRT904280	hsa-miR-3616-5p	CLIP-seq
MIRT904281	hsa-miR-3647-5p	CLIP-seq
MIRT904282	hsa-miR-3664-3p	CLIP-seq
MIRT904283	hsa-miR-3918	CLIP-seq
MIRT904284	hsa-miR-4279	CLIP-seq
MIRT904285	hsa-miR-4280	CLIP-seq
MIRT904286	hsa-miR-4300	CLIP-seq
MIRT904287	hsa-miR-4476	CLIP-seq
MIRT904288	hsa-miR-4477b	CLIP-seq
MIRT904289	hsa-miR-4484	CLIP-seq
MIRT904290	hsa-miR-4518	CLIP-seq
MIRT904291	hsa-miR-4520a-3p	CLIP-seq
MIRT904292	hsa-miR-4645-5p	CLIP-seq
MIRT904293	hsa-miR-4646-3p	CLIP-seq
MIRT904294	hsa-miR-4661-3p	CLIP-seq
MIRT904295	hsa-miR-4673	CLIP-seq
MIRT904296	hsa-miR-4679	CLIP-seq
MIRT904297	hsa-miR-4683	CLIP-seq
MIRT904298	hsa-miR-4696	CLIP-seq
MIRT904299	hsa-miR-4716-5p	CLIP-seq
MIRT904300	hsa-miR-4728-3p	CLIP-seq
MIRT904301	hsa-miR-4731-5p	CLIP-seq
MIRT904302	hsa-miR-4742-5p	CLIP-seq
MIRT904303	hsa-miR-4772-5p	CLIP-seq
MIRT904304	hsa-miR-4795-5p	CLIP-seq
MIRT904305	hsa-miR-4799-5p	CLIP-seq
MIRT904306	hsa-miR-520d-5p	CLIP-seq
MIRT904307	hsa-miR-524-5p	CLIP-seq
MIRT904308	hsa-miR-545	CLIP-seq
MIRT904309	hsa-miR-548ag	CLIP-seq
MIRT904310	hsa-miR-548ai	CLIP-seq
MIRT904311	hsa-miR-548an	CLIP-seq
MIRT904312	hsa-miR-548v	CLIP-seq
MIRT904313	hsa-miR-573	CLIP-seq
MIRT904314	hsa-miR-620	CLIP-seq
MIRT904315	hsa-miR-873	CLIP-seq
MIRT904316	hsa-miR-891a	CLIP-seq
MIRT904317	hsa-miR-920	CLIP-seq
MIRT1968142	hsa-miR-27a	CLIP-seq
MIRT1968143	hsa-miR-27b	CLIP-seq
MIRT904270	hsa-miR-3120-3p	CLIP-seq
MIRT904271	hsa-miR-3127-5p	CLIP-seq
MIRT1968144	hsa-miR-3150a-3p	CLIP-seq
MIRT904279	hsa-miR-3607-5p	CLIP-seq
MIRT904280	hsa-miR-3616-5p	CLIP-seq
MIRT1968145	hsa-miR-3647-3p	CLIP-seq
MIRT904281	hsa-miR-3647-5p	CLIP-seq
MIRT904283	hsa-miR-3918	CLIP-seq
MIRT904285	hsa-miR-4280	CLIP-seq
MIRT904286	hsa-miR-4300	CLIP-seq
MIRT904304	hsa-miR-4795-5p	CLIP-seq
MIRT904306	hsa-miR-520d-5p	CLIP-seq
MIRT904307	hsa-miR-524-5p	CLIP-seq
MIRT904308	hsa-miR-545	CLIP-seq
MIRT904312	hsa-miR-548v	CLIP-seq
MIRT904313	hsa-miR-573	CLIP-seq
MIRT904317	hsa-miR-920	CLIP-seq
MIRT1968146	hsa-miR-939	CLIP-seq
MIRT904260	hsa-miR-1253	CLIP-seq
MIRT2204011	hsa-miR-1343	CLIP-seq
MIRT2204012	hsa-miR-2115	CLIP-seq
MIRT904270	hsa-miR-3120-3p	CLIP-seq
MIRT2204013	hsa-miR-3127-3p	CLIP-seq
MIRT904271	hsa-miR-3127-5p	CLIP-seq
MIRT904273	hsa-miR-3157-3p	CLIP-seq
MIRT904276	hsa-miR-331-3p	CLIP-seq
MIRT904279	hsa-miR-3607-5p	CLIP-seq
MIRT904280	hsa-miR-3616-5p	CLIP-seq
MIRT904281	hsa-miR-3647-5p	CLIP-seq
MIRT904283	hsa-miR-3918	CLIP-seq
MIRT2204014	hsa-miR-3919	CLIP-seq
MIRT2204015	hsa-miR-3938	CLIP-seq
MIRT904285	hsa-miR-4280	CLIP-seq
MIRT2204016	hsa-miR-4286	CLIP-seq
MIRT904292	hsa-miR-4645-5p	CLIP-seq
MIRT904293	hsa-miR-4646-3p	CLIP-seq
MIRT2204017	hsa-miR-4659a-3p	CLIP-seq
MIRT2204018	hsa-miR-4659b-3p	CLIP-seq
MIRT2204019	hsa-miR-4667-5p	CLIP-seq
MIRT904295	hsa-miR-4673	CLIP-seq
MIRT2204020	hsa-miR-4700-5p	CLIP-seq
MIRT904299	hsa-miR-4716-5p	CLIP-seq
MIRT904302	hsa-miR-4742-5p	CLIP-seq
MIRT2204021	hsa-miR-4768-5p	CLIP-seq
MIRT904304	hsa-miR-4795-5p	CLIP-seq
MIRT2204022	hsa-miR-516a-3p	CLIP-seq
MIRT904306	hsa-miR-520d-5p	CLIP-seq
MIRT904307	hsa-miR-524-5p	CLIP-seq
MIRT904308	hsa-miR-545	CLIP-seq
MIRT904312	hsa-miR-548v	CLIP-seq
MIRT904313	hsa-miR-573	CLIP-seq
MIRT2204023	hsa-miR-660	CLIP-seq
MIRT904316	hsa-miR-891a	CLIP-seq
MIRT904271	hsa-miR-3127-5p	CLIP-seq
MIRT904279	hsa-miR-3607-5p	CLIP-seq
MIRT904283	hsa-miR-3918	CLIP-seq
MIRT904306	hsa-miR-520d-5p	CLIP-seq
MIRT904307	hsa-miR-524-5p	CLIP-seq
MIRT2507234	hsa-miR-1224-3p	CLIP-seq
MIRT2507235	hsa-miR-125b	CLIP-seq
MIRT904261	hsa-miR-1264	CLIP-seq
MIRT904262	hsa-miR-1266	CLIP-seq
MIRT904263	hsa-miR-1270	CLIP-seq
MIRT904264	hsa-miR-127-5p	CLIP-seq
MIRT2507236	hsa-miR-1287	CLIP-seq
MIRT2507237	hsa-miR-129-5p	CLIP-seq
MIRT2507238	hsa-miR-146a	CLIP-seq
MIRT2507239	hsa-miR-146b-3p	CLIP-seq
MIRT2507240	hsa-miR-146b-5p	CLIP-seq
MIRT2507241	hsa-miR-148a	CLIP-seq
MIRT2507242	hsa-miR-148b	CLIP-seq
MIRT2507243	hsa-miR-152	CLIP-seq
MIRT2507244	hsa-miR-1587	CLIP-seq
MIRT2507245	hsa-miR-186	CLIP-seq
MIRT2507246	hsa-miR-1913	CLIP-seq
MIRT2507247	hsa-miR-2052	CLIP-seq
MIRT2507248	hsa-miR-2113	CLIP-seq
MIRT2204012	hsa-miR-2115	CLIP-seq
MIRT904269	hsa-miR-2276	CLIP-seq
MIRT1968142	hsa-miR-27a	CLIP-seq
MIRT1968143	hsa-miR-27b	CLIP-seq
MIRT2204013	hsa-miR-3127-3p	CLIP-seq
MIRT2507249	hsa-miR-3135b	CLIP-seq
MIRT1968144	hsa-miR-3150a-3p	CLIP-seq
MIRT2507250	hsa-miR-3151	CLIP-seq
MIRT2507251	hsa-miR-3153	CLIP-seq
MIRT904273	hsa-miR-3157-3p	CLIP-seq
MIRT2507252	hsa-miR-3173-5p	CLIP-seq
MIRT2507253	hsa-miR-3175	CLIP-seq
MIRT904274	hsa-miR-3184	CLIP-seq
MIRT2507254	hsa-miR-3189-5p	CLIP-seq
MIRT904275	hsa-miR-3192	CLIP-seq
MIRT2507255	hsa-miR-3202	CLIP-seq
MIRT2507256	hsa-miR-324-3p	CLIP-seq
MIRT904276	hsa-miR-331-3p	CLIP-seq
MIRT2507257	hsa-miR-34a	CLIP-seq
MIRT2507258	hsa-miR-3605-5p	CLIP-seq
MIRT1968145	hsa-miR-3647-3p	CLIP-seq
MIRT904282	hsa-miR-3664-3p	CLIP-seq
MIRT2507259	hsa-miR-3684	CLIP-seq
MIRT2507260	hsa-miR-378g	CLIP-seq
MIRT2507261	hsa-miR-3910	CLIP-seq
MIRT2204015	hsa-miR-3938	CLIP-seq
MIRT2507262	hsa-miR-3941	CLIP-seq
MIRT2507263	hsa-miR-4252	CLIP-seq
MIRT2507264	hsa-miR-4265	CLIP-seq
MIRT2507265	hsa-miR-4296	CLIP-seq
MIRT904286	hsa-miR-4300	CLIP-seq
MIRT2507266	hsa-miR-4313	CLIP-seq
MIRT2507267	hsa-miR-4314	CLIP-seq
MIRT2507268	hsa-miR-4322	CLIP-seq
MIRT2507269	hsa-miR-4328	CLIP-seq
MIRT2507270	hsa-miR-4418	CLIP-seq
MIRT2507271	hsa-miR-4434	CLIP-seq
MIRT2507272	hsa-miR-4447	CLIP-seq
MIRT2507273	hsa-miR-4472	CLIP-seq
MIRT904287	hsa-miR-4476	CLIP-seq
MIRT904288	hsa-miR-4477b	CLIP-seq
MIRT904289	hsa-miR-4484	CLIP-seq
MIRT2507274	hsa-miR-4492	CLIP-seq
MIRT2507275	hsa-miR-4498	CLIP-seq
MIRT2507276	hsa-miR-449b	CLIP-seq
MIRT2507277	hsa-miR-4516	CLIP-seq
MIRT904290	hsa-miR-4518	CLIP-seq
MIRT2507278	hsa-miR-4531	CLIP-seq
MIRT904293	hsa-miR-4646-3p	CLIP-seq
MIRT2507279	hsa-miR-4656	CLIP-seq
MIRT2204017	hsa-miR-4659a-3p	CLIP-seq
MIRT2204018	hsa-miR-4659b-3p	CLIP-seq
MIRT2507280	hsa-miR-466	CLIP-seq
MIRT2507281	hsa-miR-4666-3p	CLIP-seq
MIRT2507282	hsa-miR-4672	CLIP-seq
MIRT2507283	hsa-miR-4675	CLIP-seq
MIRT904297	hsa-miR-4683	CLIP-seq
MIRT2507284	hsa-miR-4686	CLIP-seq
MIRT2507285	hsa-miR-4687-3p	CLIP-seq
MIRT904298	hsa-miR-4696	CLIP-seq
MIRT2507286	hsa-miR-4709-3p	CLIP-seq
MIRT904299	hsa-miR-4716-5p	CLIP-seq
MIRT904300	hsa-miR-4728-3p	CLIP-seq
MIRT2507287	hsa-miR-4731-3p	CLIP-seq
MIRT904301	hsa-miR-4731-5p	CLIP-seq
MIRT2507288	hsa-miR-4741	CLIP-seq
MIRT2507289	hsa-miR-4753-3p	CLIP-seq
MIRT2507290	hsa-miR-4758-3p	CLIP-seq
MIRT2204021	hsa-miR-4768-5p	CLIP-seq
MIRT904303	hsa-miR-4772-5p	CLIP-seq
MIRT904305	hsa-miR-4799-5p	CLIP-seq
MIRT2507291	hsa-miR-4801	CLIP-seq
MIRT2507292	hsa-miR-491-5p	CLIP-seq
MIRT2507293	hsa-miR-504	CLIP-seq
MIRT2507294	hsa-miR-509-3-5p	CLIP-seq
MIRT2507295	hsa-miR-509-5p	CLIP-seq
MIRT2507296	hsa-miR-512-3p	CLIP-seq
MIRT2204022	hsa-miR-516a-3p	CLIP-seq
MIRT904311	hsa-miR-548an	CLIP-seq
MIRT2507297	hsa-miR-583	CLIP-seq
MIRT2507298	hsa-miR-586	CLIP-seq
MIRT904314	hsa-miR-620	CLIP-seq
MIRT2507299	hsa-miR-762	CLIP-seq
MIRT904315	hsa-miR-873	CLIP-seq
MIRT2507300	hsa-miR-874	CLIP-seq
MIRT904317	hsa-miR-920	CLIP-seq
MIRT1968146	hsa-miR-939	CLIP-seq
MIRT2507234	hsa-miR-1224-3p	CLIP-seq
MIRT2507235	hsa-miR-125b	CLIP-seq
MIRT904261	hsa-miR-1264	CLIP-seq
MIRT904262	hsa-miR-1266	CLIP-seq
MIRT904264	hsa-miR-127-5p	CLIP-seq
MIRT2507236	hsa-miR-1287	CLIP-seq
MIRT2507237	hsa-miR-129-5p	CLIP-seq
MIRT2507238	hsa-miR-146a	CLIP-seq
MIRT2507239	hsa-miR-146b-3p	CLIP-seq
MIRT2507240	hsa-miR-146b-5p	CLIP-seq
MIRT2507241	hsa-miR-148a	CLIP-seq
MIRT2507242	hsa-miR-148b	CLIP-seq
MIRT2507243	hsa-miR-152	CLIP-seq
MIRT2507246	hsa-miR-1913	CLIP-seq
MIRT2507247	hsa-miR-2052	CLIP-seq
MIRT2507248	hsa-miR-2113	CLIP-seq
MIRT1968142	hsa-miR-27a	CLIP-seq
MIRT1968143	hsa-miR-27b	CLIP-seq
MIRT2507249	hsa-miR-3135b	CLIP-seq
MIRT1968144	hsa-miR-3150a-3p	CLIP-seq
MIRT2507250	hsa-miR-3151	CLIP-seq
MIRT2507252	hsa-miR-3173-5p	CLIP-seq
MIRT2507253	hsa-miR-3175	CLIP-seq
MIRT2507254	hsa-miR-3189-5p	CLIP-seq
MIRT2507256	hsa-miR-324-3p	CLIP-seq
MIRT2507257	hsa-miR-34a	CLIP-seq
MIRT2507258	hsa-miR-3605-5p	CLIP-seq
MIRT1968145	hsa-miR-3647-3p	CLIP-seq
MIRT904282	hsa-miR-3664-3p	CLIP-seq
MIRT2507261	hsa-miR-3910	CLIP-seq
MIRT2204015	hsa-miR-3938	CLIP-seq
MIRT2507262	hsa-miR-3941	CLIP-seq
MIRT2507263	hsa-miR-4252	CLIP-seq
MIRT2507264	hsa-miR-4265	CLIP-seq
MIRT2507265	hsa-miR-4296	CLIP-seq
MIRT2507266	hsa-miR-4313	CLIP-seq
MIRT2507268	hsa-miR-4322	CLIP-seq
MIRT2507269	hsa-miR-4328	CLIP-seq
MIRT2507270	hsa-miR-4418	CLIP-seq
MIRT2507271	hsa-miR-4434	CLIP-seq
MIRT2507272	hsa-miR-4447	CLIP-seq
MIRT2507273	hsa-miR-4472	CLIP-seq
MIRT904287	hsa-miR-4476	CLIP-seq
MIRT904289	hsa-miR-4484	CLIP-seq
MIRT2507276	hsa-miR-449b	CLIP-seq
MIRT2507277	hsa-miR-4516	CLIP-seq
MIRT904290	hsa-miR-4518	CLIP-seq
MIRT2507278	hsa-miR-4531	CLIP-seq
MIRT904293	hsa-miR-4646-3p	CLIP-seq
MIRT2204017	hsa-miR-4659a-3p	CLIP-seq
MIRT2204018	hsa-miR-4659b-3p	CLIP-seq
MIRT2507280	hsa-miR-466	CLIP-seq
MIRT2507281	hsa-miR-4666-3p	CLIP-seq
MIRT2507282	hsa-miR-4672	CLIP-seq
MIRT2507284	hsa-miR-4686	CLIP-seq
MIRT2507286	hsa-miR-4709-3p	CLIP-seq
MIRT904299	hsa-miR-4716-5p	CLIP-seq
MIRT2507287	hsa-miR-4731-3p	CLIP-seq
MIRT2507290	hsa-miR-4758-3p	CLIP-seq
MIRT904303	hsa-miR-4772-5p	CLIP-seq
MIRT2507291	hsa-miR-4801	CLIP-seq
MIRT2507292	hsa-miR-491-5p	CLIP-seq
MIRT2507293	hsa-miR-504	CLIP-seq
MIRT2507294	hsa-miR-509-3-5p	CLIP-seq
MIRT2507295	hsa-miR-509-5p	CLIP-seq
MIRT2507296	hsa-miR-512-3p	CLIP-seq
MIRT904311	hsa-miR-548an	CLIP-seq
MIRT2507298	hsa-miR-586	CLIP-seq
MIRT904315	hsa-miR-873	CLIP-seq
MIRT2507300	hsa-miR-874	CLIP-seq
MIRT1968146	hsa-miR-939	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005794	Component	Golgi apparatus	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006886	Process	Intracellular protein transport	IBA
GO:0006886	Process	Intracellular protein transport	IEA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IBA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	IEA
GO:0006890	Process	Retrograde vesicle-mediated transport, Golgi to endoplasmic reticulum	TAS	11030615
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IBA
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	IDA	11056392
GO:0006891	Process	Intra-Golgi vesicle-mediated transport	ISS
GO:0015031	Process	Protein transport	IEA
GO:0016020	Component	Membrane	IEA
GO:0016192	Process	Vesicle-mediated transport	IEA
GO:0030117	Component	Membrane coat	IEA
GO:0030126	Component	COPI vesicle coat	IBA
GO:0030126	Component	COPI vesicle coat	IDA	11056392, 14729954
GO:0030126	Component	COPI vesicle coat	IEA
GO:0030126	Component	COPI vesicle coat	ISS
GO:0030133	Component	Transport vesicle	IEA
GO:0030133	Component	Transport vesicle	TAS
GO:0030663	Component	COPI-coated vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA

Other IDs

• MIM: 615472
• HGNC: 2243
• e!Ensembl: ENSG00000111481

Protein

• UniProt ID: P61923
• Protein name: Coatomer subunit zeta-1 (Zeta-1-coat protein) (Zeta-1 COP)
• Protein function: The coatomer is a cytosolic protein complex that binds to dilysine motifs and reversibly associates with Golgi non-clathrin-coated vesicles, which further mediate biosynthetic protein transport from the ER, via the Golgi up to the trans Golgi ne
• PDB: 2HF6, 5MC7
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01217	Clat_adaptor_s	12 → 153	Clathrin adaptor complex small chain	Domain

• Sequence:

  MEALILEPSLYTVKAILILDNDGDRLFAKYYDDTYPSVKEQKAFEKNIFNKTHRTDSEIA
  LLEGLTVVYKSSIDLYFYVIGSSYENELMLMAVLNCLFDSLSQMLRKNVEKRALLENMEG
  LFLAVDEIVDGGVILESDPQQVVHRVALRGEDVPLTEQTVSQVLQSAKEQIKWSLLR

• Sequence length: 177

Pathways

Reactome:

COPI-mediated anterograde transport
COPI-dependent Golgi-to-ER retrograde traffic

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
Clear cell carcinoma of kidney	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Carcinogenesis	Carcinogenesis	Pubtator	37107648	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37107648	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26566043	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	33420375	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33420375	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37107648	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	26566043		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	28951131		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21746916, 28951131		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	26566043	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	28951131		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	28951131		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	26431489	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	39968981	Associate	★☆☆☆☆ Found in Text Mining only