KCTD12 (potassium channel tetramerization domain containing 12)

Gene

• Entrez ID: 115207
• Gene name: Potassium channel tetramerization domain containing 12
• Gene symbol: KCTD12
• Synonyms (NCBI Gene): C13orf2, PFET1, PFETIN
• Chromosome: 13
• Chromosome location: 13q22.3

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT019041	hsa-miR-335-5p	Microarray	18185580
MIRT021600	hsa-miR-142-3p	Microarray	17612493
MIRT024442	hsa-miR-215-5p	Microarray	19074876
MIRT026816	hsa-miR-192-5p	Microarray	19074876
MIRT032456	hsa-let-7b-5p	Proteomics	18668040
MIRT050459	hsa-miR-22-3p	CLASH	23622248
MIRT047814	hsa-miR-30d-5p	CLASH	23622248
MIRT045093	hsa-miR-186-5p	CLASH	23622248
MIRT039219	hsa-miR-454-3p	CLASH	23622248
MIRT717179	hsa-miR-29b-1-5p	HITS-CLIP	19536157
MIRT717178	hsa-miR-380-5p	HITS-CLIP	19536157
MIRT717177	hsa-miR-563	HITS-CLIP	19536157
MIRT717176	hsa-miR-183-3p	HITS-CLIP	19536157
MIRT717175	hsa-miR-4452	HITS-CLIP	19536157
MIRT645231	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT645238	hsa-miR-3646	HITS-CLIP	23824327
MIRT645237	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT645236	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT645235	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT645234	hsa-miR-513a-5p	HITS-CLIP	23824327
MIRT645233	hsa-miR-27a-3p	HITS-CLIP	23824327
MIRT645232	hsa-miR-27b-3p	HITS-CLIP	23824327
MIRT645231	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT645230	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT645229	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT645228	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT504071	hsa-miR-551b-5p	PAR-CLIP	21572407
MIRT504069	hsa-miR-7160-3p	PAR-CLIP	21572407
MIRT504070	hsa-miR-6513-3p	PAR-CLIP	21572407
MIRT504068	hsa-miR-936	PAR-CLIP	21572407
MIRT504067	hsa-miR-7515	PAR-CLIP	21572407
MIRT504066	hsa-miR-3179	PAR-CLIP	21572407
MIRT504065	hsa-miR-874-5p	PAR-CLIP	21572407
MIRT069026	hsa-miR-296-5p	PAR-CLIP	21572407
MIRT504063	hsa-miR-6126	PAR-CLIP	21572407
MIRT504064	hsa-miR-6864-5p	PAR-CLIP	21572407
MIRT504071	hsa-miR-551b-5p	PAR-CLIP	23446348
MIRT504069	hsa-miR-7160-3p	PAR-CLIP	23446348
MIRT504070	hsa-miR-6513-3p	PAR-CLIP	23446348
MIRT504068	hsa-miR-936	PAR-CLIP	23446348
MIRT504067	hsa-miR-7515	PAR-CLIP	23446348
MIRT504066	hsa-miR-3179	PAR-CLIP	23446348
MIRT504065	hsa-miR-874-5p	PAR-CLIP	23446348
MIRT069026	hsa-miR-296-5p	PAR-CLIP	23446348
MIRT504063	hsa-miR-6126	PAR-CLIP	23446348
MIRT504064	hsa-miR-6864-5p	PAR-CLIP	23446348
MIRT717179	hsa-miR-29b-1-5p	HITS-CLIP	19536157
MIRT717178	hsa-miR-380-5p	HITS-CLIP	19536157
MIRT717177	hsa-miR-563	HITS-CLIP	19536157
MIRT717176	hsa-miR-183-3p	HITS-CLIP	19536157
MIRT717175	hsa-miR-4452	HITS-CLIP	19536157
MIRT645231	hsa-miR-6875-3p	HITS-CLIP	19536157
MIRT645238	hsa-miR-3646	HITS-CLIP	23824327
MIRT645237	hsa-miR-412-3p	HITS-CLIP	23824327
MIRT645236	hsa-miR-6754-3p	HITS-CLIP	23824327
MIRT645235	hsa-miR-6837-3p	HITS-CLIP	23824327
MIRT645234	hsa-miR-513a-5p	HITS-CLIP	23824327
MIRT645233	hsa-miR-27a-3p	HITS-CLIP	23824327
MIRT645232	hsa-miR-27b-3p	HITS-CLIP	23824327
MIRT645231	hsa-miR-6875-3p	HITS-CLIP	23824327
MIRT645230	hsa-miR-4659a-3p	HITS-CLIP	23824327
MIRT645229	hsa-miR-4659b-3p	HITS-CLIP	23824327
MIRT645228	hsa-miR-7112-3p	HITS-CLIP	23824327
MIRT504071	hsa-miR-551b-5p	PAR-CLIP	21572407
MIRT504069	hsa-miR-7160-3p	PAR-CLIP	21572407
MIRT504070	hsa-miR-6513-3p	PAR-CLIP	21572407
MIRT504068	hsa-miR-936	PAR-CLIP	21572407
MIRT504067	hsa-miR-7515	PAR-CLIP	21572407
MIRT504066	hsa-miR-3179	PAR-CLIP	21572407
MIRT504065	hsa-miR-874-5p	PAR-CLIP	21572407
MIRT069026	hsa-miR-296-5p	PAR-CLIP	21572407
MIRT504063	hsa-miR-6126	PAR-CLIP	21572407
MIRT504064	hsa-miR-6864-5p	PAR-CLIP	21572407
MIRT504071	hsa-miR-551b-5p	PAR-CLIP	23446348
MIRT504069	hsa-miR-7160-3p	PAR-CLIP	23446348
MIRT504070	hsa-miR-6513-3p	PAR-CLIP	23446348
MIRT504068	hsa-miR-936	PAR-CLIP	23446348
MIRT504067	hsa-miR-7515	PAR-CLIP	23446348
MIRT504066	hsa-miR-3179	PAR-CLIP	23446348
MIRT504065	hsa-miR-874-5p	PAR-CLIP	23446348
MIRT069026	hsa-miR-296-5p	PAR-CLIP	23446348
MIRT504063	hsa-miR-6126	PAR-CLIP	23446348
MIRT504064	hsa-miR-6864-5p	PAR-CLIP	23446348
MIRT1082668	hsa-miR-105	CLIP-seq
MIRT1082669	hsa-miR-1252	CLIP-seq
MIRT1082670	hsa-miR-1273d	CLIP-seq
MIRT1082671	hsa-miR-186	CLIP-seq
MIRT1082672	hsa-miR-3124-3p	CLIP-seq
MIRT1082673	hsa-miR-3145-3p	CLIP-seq
MIRT1082674	hsa-miR-3149	CLIP-seq
MIRT1082675	hsa-miR-3158-3p	CLIP-seq
MIRT1082676	hsa-miR-3662	CLIP-seq
MIRT1082677	hsa-miR-3685	CLIP-seq
MIRT1082678	hsa-miR-3686	CLIP-seq
MIRT1082679	hsa-miR-371-5p	CLIP-seq
MIRT1082680	hsa-miR-384	CLIP-seq
MIRT1082681	hsa-miR-3924	CLIP-seq
MIRT1082682	hsa-miR-4282	CLIP-seq
MIRT1082683	hsa-miR-4325	CLIP-seq
MIRT1082684	hsa-miR-4436b-5p	CLIP-seq
MIRT1082685	hsa-miR-4438	CLIP-seq
MIRT1082686	hsa-miR-4443	CLIP-seq
MIRT1082687	hsa-miR-4453	CLIP-seq
MIRT1082688	hsa-miR-4468	CLIP-seq
MIRT1082689	hsa-miR-448	CLIP-seq
MIRT1082690	hsa-miR-450a	CLIP-seq
MIRT1082691	hsa-miR-4524	CLIP-seq
MIRT1082692	hsa-miR-4533	CLIP-seq
MIRT1082693	hsa-miR-4538	CLIP-seq
MIRT1082694	hsa-miR-4650-5p	CLIP-seq
MIRT1082695	hsa-miR-4661-3p	CLIP-seq
MIRT1082696	hsa-miR-4698	CLIP-seq
MIRT1082697	hsa-miR-4717-3p	CLIP-seq
MIRT1082698	hsa-miR-4721	CLIP-seq
MIRT1082699	hsa-miR-4738-3p	CLIP-seq
MIRT1082700	hsa-miR-4765	CLIP-seq
MIRT1082701	hsa-miR-4778-5p	CLIP-seq
MIRT1082702	hsa-miR-488	CLIP-seq
MIRT1082703	hsa-miR-501-5p	CLIP-seq
MIRT1082704	hsa-miR-5095	CLIP-seq
MIRT1082705	hsa-miR-542-3p	CLIP-seq
MIRT1082706	hsa-miR-548a-3p	CLIP-seq
MIRT1082707	hsa-miR-548e	CLIP-seq
MIRT1082708	hsa-miR-548f	CLIP-seq
MIRT1082709	hsa-miR-548g	CLIP-seq
MIRT1082710	hsa-miR-550b	CLIP-seq
MIRT1082711	hsa-miR-568	CLIP-seq
MIRT1082712	hsa-miR-570	CLIP-seq
MIRT1082713	hsa-miR-590-3p	CLIP-seq
MIRT1082714	hsa-miR-627	CLIP-seq
MIRT1082715	hsa-miR-888	CLIP-seq
MIRT1082716	hsa-miR-9	CLIP-seq
MIRT1082717	hsa-miR-924	CLIP-seq
MIRT1550435	hsa-miR-204	CLIP-seq
MIRT1550436	hsa-miR-211	CLIP-seq
MIRT1550437	hsa-miR-299-5p	CLIP-seq
MIRT1550438	hsa-miR-3065-5p	CLIP-seq
MIRT1550439	hsa-miR-3201	CLIP-seq
MIRT1550440	hsa-miR-33a	CLIP-seq
MIRT1550441	hsa-miR-33b	CLIP-seq
MIRT1550442	hsa-miR-374a	CLIP-seq
MIRT1550443	hsa-miR-374b	CLIP-seq
MIRT1550444	hsa-miR-376c	CLIP-seq
MIRT1550445	hsa-miR-4446-5p	CLIP-seq
MIRT1550446	hsa-miR-4662a-3p	CLIP-seq
MIRT1550447	hsa-miR-4755-5p	CLIP-seq
MIRT1550448	hsa-miR-4791	CLIP-seq
MIRT1550449	hsa-miR-584	CLIP-seq
MIRT1550450	hsa-miR-586	CLIP-seq
MIRT1550451	hsa-miR-623	CLIP-seq
MIRT1550452	hsa-miR-664	CLIP-seq
MIRT1550453	hsa-miR-668	CLIP-seq
MIRT1556594	hsa-miR-4658	CLIP-seq
MIRT1556595	hsa-miR-4758-5p	CLIP-seq
MIRT2020638	hsa-miR-139-5p	CLIP-seq
MIRT2020639	hsa-miR-15a	CLIP-seq
MIRT2020640	hsa-miR-15b	CLIP-seq
MIRT2020641	hsa-miR-16	CLIP-seq
MIRT2020642	hsa-miR-195	CLIP-seq
MIRT1550435	hsa-miR-204	CLIP-seq
MIRT2020643	hsa-miR-2053	CLIP-seq
MIRT1550436	hsa-miR-211	CLIP-seq
MIRT2020644	hsa-miR-27a	CLIP-seq
MIRT2020645	hsa-miR-27b	CLIP-seq
MIRT2020646	hsa-miR-3120-3p	CLIP-seq
MIRT2020647	hsa-miR-3148	CLIP-seq
MIRT2020648	hsa-miR-3614-5p	CLIP-seq
MIRT2020649	hsa-miR-412	CLIP-seq
MIRT2020650	hsa-miR-424	CLIP-seq
MIRT1550445	hsa-miR-4446-5p	CLIP-seq
MIRT2020651	hsa-miR-4539	CLIP-seq
MIRT2020652	hsa-miR-4693-5p	CLIP-seq
MIRT1550447	hsa-miR-4755-5p	CLIP-seq
MIRT2020653	hsa-miR-497	CLIP-seq
MIRT2020654	hsa-miR-513c	CLIP-seq
MIRT2020655	hsa-miR-514b-5p	CLIP-seq
MIRT2020656	hsa-miR-569	CLIP-seq
MIRT1550449	hsa-miR-584	CLIP-seq
MIRT1550451	hsa-miR-623	CLIP-seq
MIRT2020657	hsa-miR-643	CLIP-seq
MIRT2020658	hsa-miR-646	CLIP-seq
MIRT2020659	hsa-miR-940	CLIP-seq
MIRT2252304	hsa-miR-1270	CLIP-seq
MIRT2252305	hsa-miR-1908	CLIP-seq
MIRT2252306	hsa-miR-2115	CLIP-seq
MIRT2252307	hsa-miR-3136-3p	CLIP-seq
MIRT2252308	hsa-miR-3180	CLIP-seq
MIRT2252309	hsa-miR-3180-3p	CLIP-seq
MIRT2252310	hsa-miR-3196	CLIP-seq
MIRT2252311	hsa-miR-3202	CLIP-seq
MIRT2252312	hsa-miR-342-5p	CLIP-seq
MIRT2252313	hsa-miR-3616-3p	CLIP-seq
MIRT2252314	hsa-miR-4271	CLIP-seq
MIRT2252315	hsa-miR-432	CLIP-seq
MIRT2252316	hsa-miR-4427	CLIP-seq
MIRT2252317	hsa-miR-4436b-3p	CLIP-seq
MIRT2252318	hsa-miR-4455	CLIP-seq
MIRT1082688	hsa-miR-4468	CLIP-seq
MIRT2252319	hsa-miR-4504	CLIP-seq
MIRT2252320	hsa-miR-4509	CLIP-seq
MIRT2252321	hsa-miR-4531	CLIP-seq
MIRT2252322	hsa-miR-4641	CLIP-seq
MIRT2252323	hsa-miR-4652-3p	CLIP-seq
MIRT2252324	hsa-miR-4664-5p	CLIP-seq
MIRT2252325	hsa-miR-4680-3p	CLIP-seq
MIRT2252326	hsa-miR-4725-3p	CLIP-seq
MIRT2252327	hsa-miR-4731-5p	CLIP-seq
MIRT2252328	hsa-miR-4747-5p	CLIP-seq
MIRT2252329	hsa-miR-4802-5p	CLIP-seq
MIRT2252330	hsa-miR-516a-3p	CLIP-seq
MIRT1082705	hsa-miR-542-3p	CLIP-seq
MIRT2252331	hsa-miR-544	CLIP-seq
MIRT2252332	hsa-miR-548u	CLIP-seq
MIRT2252333	hsa-miR-609	CLIP-seq
MIRT2252334	hsa-miR-620	CLIP-seq
MIRT2252335	hsa-miR-663	CLIP-seq
MIRT2389702	hsa-miR-4536	CLIP-seq
MIRT2452307	hsa-miR-1238	CLIP-seq
MIRT2452308	hsa-miR-1470	CLIP-seq
MIRT1082672	hsa-miR-3124-3p	CLIP-seq
MIRT2452309	hsa-miR-4286	CLIP-seq
MIRT2452310	hsa-miR-4469	CLIP-seq
MIRT2452311	hsa-miR-4667-3p	CLIP-seq
MIRT2452312	hsa-miR-4691-5p	CLIP-seq
MIRT1082668	hsa-miR-105	CLIP-seq
MIRT2555637	hsa-miR-1253	CLIP-seq
MIRT2555638	hsa-miR-1267	CLIP-seq
MIRT2555639	hsa-miR-1323	CLIP-seq
MIRT2555640	hsa-miR-135a	CLIP-seq
MIRT2555641	hsa-miR-135b	CLIP-seq
MIRT2555642	hsa-miR-150	CLIP-seq
MIRT2555643	hsa-miR-154	CLIP-seq
MIRT2555644	hsa-miR-1915	CLIP-seq
MIRT2252306	hsa-miR-2115	CLIP-seq
MIRT2555645	hsa-miR-219-1-3p	CLIP-seq
MIRT2555646	hsa-miR-300	CLIP-seq
MIRT1550438	hsa-miR-3065-5p	CLIP-seq
MIRT1082674	hsa-miR-3149	CLIP-seq
MIRT2555647	hsa-miR-3154	CLIP-seq
MIRT1082675	hsa-miR-3158-3p	CLIP-seq
MIRT2555648	hsa-miR-3198	CLIP-seq
MIRT2555649	hsa-miR-381	CLIP-seq
MIRT1082680	hsa-miR-384	CLIP-seq
MIRT2555650	hsa-miR-4274	CLIP-seq
MIRT1082682	hsa-miR-4282	CLIP-seq
MIRT2555651	hsa-miR-4309	CLIP-seq
MIRT2252315	hsa-miR-432	CLIP-seq
MIRT2555652	hsa-miR-4432	CLIP-seq
MIRT1082685	hsa-miR-4438	CLIP-seq
MIRT1082686	hsa-miR-4443	CLIP-seq
MIRT1082688	hsa-miR-4468	CLIP-seq
MIRT2555653	hsa-miR-4519	CLIP-seq
MIRT2555654	hsa-miR-4522	CLIP-seq
MIRT1082691	hsa-miR-4524	CLIP-seq
MIRT2555655	hsa-miR-4653-3p	CLIP-seq
MIRT2555656	hsa-miR-4713-5p	CLIP-seq
MIRT2555657	hsa-miR-4714-5p	CLIP-seq
MIRT1082698	hsa-miR-4721	CLIP-seq
MIRT2555658	hsa-miR-4726-3p	CLIP-seq
MIRT2555659	hsa-miR-4786-5p	CLIP-seq
MIRT2555660	hsa-miR-4790-3p	CLIP-seq
MIRT1082704	hsa-miR-5095	CLIP-seq
MIRT2020654	hsa-miR-513c	CLIP-seq
MIRT2020655	hsa-miR-514b-5p	CLIP-seq
MIRT2252330	hsa-miR-516a-3p	CLIP-seq
MIRT2555661	hsa-miR-532-3p	CLIP-seq
MIRT2252331	hsa-miR-544	CLIP-seq
MIRT1082706	hsa-miR-548a-3p	CLIP-seq
MIRT1082707	hsa-miR-548e	CLIP-seq
MIRT1082708	hsa-miR-548f	CLIP-seq
MIRT1082709	hsa-miR-548g	CLIP-seq
MIRT2555662	hsa-miR-548o	CLIP-seq
MIRT1082710	hsa-miR-550b	CLIP-seq
MIRT1082711	hsa-miR-568	CLIP-seq
MIRT2555663	hsa-miR-580	CLIP-seq
MIRT1082713	hsa-miR-590-3p	CLIP-seq
MIRT2555664	hsa-miR-600	CLIP-seq
MIRT2555665	hsa-miR-760	CLIP-seq
MIRT2555666	hsa-miR-769-5p	CLIP-seq
MIRT1082715	hsa-miR-888	CLIP-seq
MIRT1082716	hsa-miR-9	CLIP-seq
MIRT2555637	hsa-miR-1253	CLIP-seq
MIRT2555638	hsa-miR-1267	CLIP-seq
MIRT2555639	hsa-miR-1323	CLIP-seq
MIRT2555640	hsa-miR-135a	CLIP-seq
MIRT2555641	hsa-miR-135b	CLIP-seq
MIRT2555645	hsa-miR-219-1-3p	CLIP-seq
MIRT1550438	hsa-miR-3065-5p	CLIP-seq
MIRT2555648	hsa-miR-3198	CLIP-seq
MIRT2555650	hsa-miR-4274	CLIP-seq
MIRT1082682	hsa-miR-4282	CLIP-seq
MIRT2555651	hsa-miR-4309	CLIP-seq
MIRT2683255	hsa-miR-4311	CLIP-seq
MIRT2252315	hsa-miR-432	CLIP-seq
MIRT2683256	hsa-miR-4328	CLIP-seq
MIRT2555652	hsa-miR-4432	CLIP-seq
MIRT1082688	hsa-miR-4468	CLIP-seq
MIRT2555653	hsa-miR-4519	CLIP-seq
MIRT2555654	hsa-miR-4522	CLIP-seq
MIRT1082691	hsa-miR-4524	CLIP-seq
MIRT2555655	hsa-miR-4653-3p	CLIP-seq
MIRT2555657	hsa-miR-4714-5p	CLIP-seq
MIRT1082702	hsa-miR-488	CLIP-seq
MIRT2020654	hsa-miR-513c	CLIP-seq
MIRT2020655	hsa-miR-514b-5p	CLIP-seq
MIRT1082706	hsa-miR-548a-3p	CLIP-seq
MIRT1082707	hsa-miR-548e	CLIP-seq
MIRT1082708	hsa-miR-548f	CLIP-seq
MIRT1082709	hsa-miR-548g	CLIP-seq
MIRT2555662	hsa-miR-548o	CLIP-seq
MIRT2555663	hsa-miR-580	CLIP-seq
MIRT1082713	hsa-miR-590-3p	CLIP-seq
MIRT2555665	hsa-miR-760	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005886	Component	Plasma membrane	IEA
GO:0008277	Process	Regulation of G protein-coupled receptor signaling pathway	IBA
GO:0016020	Component	Membrane	IEA
GO:0042734	Component	Presynaptic membrane	IBA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042734	Component	Presynaptic membrane	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	27152988
GO:0042995	Component	Cell projection	IEA
GO:0043235	Component	Receptor complex	IBA
GO:0045202	Component	Synapse	IEA
GO:0045211	Component	Postsynaptic membrane	IBA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0045211	Component	Postsynaptic membrane	IEA
GO:0051260	Process	Protein homooligomerization	IEA

Other IDs

• MIM: 610521
• HGNC: 14678
• e!Ensembl: ENSG00000178695

Protein

• UniProt ID: Q96CX2
• Protein name: BTB/POZ domain-containing protein KCTD12 (Pfetin) (Predominantly fetal expressed T1 domain)
• Protein function: Auxiliary subunit of GABA-B receptors that determine the pharmacology and kinetics of the receptor response. Increases agonist potency and markedly alter the G-protein signaling of the receptors by accelerating onset and promoting desensitizatio
• PDB: 6M8S, 6QZL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02214	BTB_2	36 → 129	BTB/POZ domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Present in a variety of fetal organs, with highest expression levels in the cochlea and brain and, in stark contrast, is detected only at extremely low levels in adult organs, such as brain and lung. {ECO:0000269|PubMed:15357420}.
• Sequence:

  MALADSTRGLPNGGGGGGGSGSSSSSAEPPLFPDIVELNVGGQVYVTRRCTVVSVPDSLL
  WRMFTQQQPQELARDSKGRFFLDRDGFLFRYILDYLRDLQLVLPDYFPERSRLQREAEYF
  ELPELVRRLGAPQQPGPGPPPSRRGVHKEGSLGDELLPLGYSEPEQQEGASAGAPSPTLE
  LASRSPSGGAAGPLLTPSQSLDGSRRSGYITIGYRGSYTIGRDAQADAKFRRVARITVCG
  KTSLAKEVFGDTLNESRDPDRPPERYTSRYYLKFNFLEQAFDKLSESGFHMVACSSTGTC
  AFASSTDQSEDKIWTSYTEYVFCRE

• Sequence length: 325

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
AUTISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL AMYLOID ANGIOPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC KIDNEY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOOD DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	28062797		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	25689571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar disorder	Pubtator	31311980	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	32207860	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	36647876, 37626178	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	37626178	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30872078		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	30157793	Inhibit	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	LHGDN	18347171		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	18535868, 24977158, 30157793	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	28000887, 29242380, 29930747, 30157793		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28869606		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28869606		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30872078		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	31565480		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	PSYGENET_DG	25689571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	36534449	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28869606, 29930747, 31565480		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	37626178	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	PSYGENET_DG	25689571		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30157793		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37626178	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	37626178	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	28000887		★☆☆☆☆ Found in Text Mining only