AKAP6 (A-kinase anchoring protein 6)

Gene

• Entrez ID: 9472
• Gene name: A-kinase anchoring protein 6
• Gene symbol: AKAP6
• Synonyms (NCBI Gene): ADAP100, ADAP6, AKAP100, PRKA6, mAKAP
• Chromosome: 14
• Chromosome location: 14q12
• Summary: The A-kinase anchor proteins (AKAPs) are a group of structurally diverse proteins, which have the common function of binding to the regulatory subunit of protein kinase A (PKA) and confining the holoenzyme to discrete locations within the cell. This gene

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT689624	hsa-miR-483-5p	HITS-CLIP	23313552
MIRT689623	hsa-miR-3929	HITS-CLIP	23313552
MIRT689622	hsa-miR-4419b	HITS-CLIP	23313552
MIRT689621	hsa-miR-4478	HITS-CLIP	23313552
MIRT689614	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT689620	hsa-miR-4781-3p	HITS-CLIP	23313552
MIRT689619	hsa-miR-4716-5p	HITS-CLIP	23313552
MIRT689618	hsa-miR-4695-3p	HITS-CLIP	23313552
MIRT689617	hsa-miR-4755-3p	HITS-CLIP	23313552
MIRT689616	hsa-miR-193b-5p	HITS-CLIP	23313552
MIRT689615	hsa-miR-6832-5p	HITS-CLIP	23313552
MIRT689614	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT689613	hsa-miR-197-3p	HITS-CLIP	23313552
MIRT689612	hsa-miR-7641	HITS-CLIP	23313552
MIRT689611	hsa-miR-548s	HITS-CLIP	23313552
MIRT689610	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT689609	hsa-miR-588	HITS-CLIP	23313552
MIRT689608	hsa-miR-4435	HITS-CLIP	23313552
MIRT689607	hsa-miR-3187-3p	HITS-CLIP	23313552
MIRT689606	hsa-miR-5096	HITS-CLIP	23313552
MIRT689605	hsa-miR-1303	HITS-CLIP	23313552
MIRT512360	hsa-miR-4311	PAR-CLIP	23446348
MIRT512359	hsa-miR-1276	PAR-CLIP	23446348
MIRT512358	hsa-miR-583	PAR-CLIP	23446348
MIRT512357	hsa-miR-7974	PAR-CLIP	23446348
MIRT512356	hsa-miR-4687-3p	PAR-CLIP	23446348
MIRT512355	hsa-miR-1257	PAR-CLIP	23446348
MIRT689624	hsa-miR-483-5p	HITS-CLIP	23313552
MIRT689623	hsa-miR-3929	HITS-CLIP	23313552
MIRT689622	hsa-miR-4419b	HITS-CLIP	23313552
MIRT689621	hsa-miR-4478	HITS-CLIP	23313552
MIRT689614	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT689620	hsa-miR-4781-3p	HITS-CLIP	23313552
MIRT689619	hsa-miR-4716-5p	HITS-CLIP	23313552
MIRT689618	hsa-miR-4695-3p	HITS-CLIP	23313552
MIRT689617	hsa-miR-4755-3p	HITS-CLIP	23313552
MIRT689616	hsa-miR-193b-5p	HITS-CLIP	23313552
MIRT689615	hsa-miR-6832-5p	HITS-CLIP	23313552
MIRT689614	hsa-miR-411-5p	HITS-CLIP	23313552
MIRT689613	hsa-miR-197-3p	HITS-CLIP	23313552
MIRT689612	hsa-miR-7641	HITS-CLIP	23313552
MIRT689611	hsa-miR-548s	HITS-CLIP	23313552
MIRT689610	hsa-miR-4701-5p	HITS-CLIP	23313552
MIRT689609	hsa-miR-588	HITS-CLIP	23313552
MIRT689608	hsa-miR-4435	HITS-CLIP	23313552
MIRT689607	hsa-miR-3187-3p	HITS-CLIP	23313552
MIRT689606	hsa-miR-5096	HITS-CLIP	23313552
MIRT689605	hsa-miR-1303	HITS-CLIP	23313552
MIRT512360	hsa-miR-4311	PAR-CLIP	23446348
MIRT512359	hsa-miR-1276	PAR-CLIP	23446348
MIRT512358	hsa-miR-583	PAR-CLIP	23446348
MIRT512357	hsa-miR-7974	PAR-CLIP	23446348
MIRT512356	hsa-miR-4687-3p	PAR-CLIP	23446348
MIRT512355	hsa-miR-1257	PAR-CLIP	23446348
MIRT775919	hsa-miR-1207-5p	CLIP-seq
MIRT775920	hsa-miR-1224-5p	CLIP-seq
MIRT775921	hsa-miR-1237	CLIP-seq
MIRT775922	hsa-miR-2276	CLIP-seq
MIRT775923	hsa-miR-2909	CLIP-seq
MIRT775924	hsa-miR-3065-5p	CLIP-seq
MIRT775925	hsa-miR-3158-3p	CLIP-seq
MIRT775926	hsa-miR-3179	CLIP-seq
MIRT775927	hsa-miR-3194-3p	CLIP-seq
MIRT775928	hsa-miR-3614-3p	CLIP-seq
MIRT775929	hsa-miR-3616-3p	CLIP-seq
MIRT775930	hsa-miR-3915	CLIP-seq
MIRT775931	hsa-miR-3928	CLIP-seq
MIRT775932	hsa-miR-4261	CLIP-seq
MIRT775933	hsa-miR-4278	CLIP-seq
MIRT775934	hsa-miR-4303	CLIP-seq
MIRT775935	hsa-miR-4326	CLIP-seq
MIRT775936	hsa-miR-4436a	CLIP-seq
MIRT775937	hsa-miR-4436b-3p	CLIP-seq
MIRT775938	hsa-miR-4471	CLIP-seq
MIRT775939	hsa-miR-4496	CLIP-seq
MIRT775940	hsa-miR-4649-3p	CLIP-seq
MIRT775941	hsa-miR-4689	CLIP-seq
MIRT775942	hsa-miR-4694-3p	CLIP-seq
MIRT775943	hsa-miR-4694-5p	CLIP-seq
MIRT775944	hsa-miR-4721	CLIP-seq
MIRT775945	hsa-miR-4763-3p	CLIP-seq
MIRT775946	hsa-miR-4772-3p	CLIP-seq
MIRT775947	hsa-miR-513a-3p	CLIP-seq
MIRT775948	hsa-miR-522	CLIP-seq
MIRT775949	hsa-miR-548a-3p	CLIP-seq
MIRT775950	hsa-miR-548e	CLIP-seq
MIRT775951	hsa-miR-548f	CLIP-seq
MIRT775952	hsa-miR-579	CLIP-seq
MIRT775953	hsa-miR-628-5p	CLIP-seq
MIRT775954	hsa-miR-646	CLIP-seq
MIRT1920237	hsa-miR-124	CLIP-seq
MIRT1920238	hsa-miR-3120-3p	CLIP-seq
MIRT1920239	hsa-miR-4708-3p	CLIP-seq
MIRT1920240	hsa-miR-506	CLIP-seq
MIRT1928964	hsa-miR-1272	CLIP-seq
MIRT1928965	hsa-miR-143	CLIP-seq
MIRT1928966	hsa-miR-193a-3p	CLIP-seq
MIRT1928967	hsa-miR-193b	CLIP-seq
MIRT1928968	hsa-miR-203	CLIP-seq
MIRT1928969	hsa-miR-3176	CLIP-seq
MIRT1928970	hsa-miR-3689a-3p	CLIP-seq
MIRT1928971	hsa-miR-3689c	CLIP-seq
MIRT1928972	hsa-miR-3922-3p	CLIP-seq
MIRT1928973	hsa-miR-4691-5p	CLIP-seq
MIRT1928974	hsa-miR-4770	CLIP-seq
MIRT1928975	hsa-miR-548ae	CLIP-seq
MIRT1928976	hsa-miR-548aj	CLIP-seq
MIRT1928977	hsa-miR-548am	CLIP-seq
MIRT1928978	hsa-miR-548x	CLIP-seq
MIRT1928979	hsa-miR-582-3p	CLIP-seq
MIRT1928980	hsa-miR-607	CLIP-seq
MIRT2169658	hsa-miR-1343	CLIP-seq
MIRT2169659	hsa-miR-2116	CLIP-seq
MIRT2169660	hsa-miR-375	CLIP-seq
MIRT2169661	hsa-miR-4273	CLIP-seq
MIRT2169662	hsa-miR-4640-5p	CLIP-seq
MIRT2169663	hsa-miR-4677-5p	CLIP-seq
MIRT2169664	hsa-miR-4726-5p	CLIP-seq
MIRT2169665	hsa-miR-4793-5p	CLIP-seq
MIRT2169666	hsa-miR-616	CLIP-seq
MIRT2169667	hsa-miR-656	CLIP-seq
MIRT2426150	hsa-miR-4528	CLIP-seq
MIRT2426151	hsa-miR-4789-5p	CLIP-seq
MIRT2426152	hsa-miR-499-3p	CLIP-seq
MIRT2426153	hsa-miR-499a-3p	CLIP-seq
MIRT2169666	hsa-miR-616	CLIP-seq
MIRT2443489	hsa-miR-223	CLIP-seq
MIRT2443490	hsa-miR-369-3p	CLIP-seq
MIRT2443491	hsa-miR-380	CLIP-seq
MIRT2443492	hsa-miR-3975	CLIP-seq
MIRT2443493	hsa-miR-4495	CLIP-seq
MIRT2443494	hsa-miR-4659a-3p	CLIP-seq
MIRT2443495	hsa-miR-4659b-3p	CLIP-seq
MIRT2443496	hsa-miR-4697-3p	CLIP-seq
MIRT2443497	hsa-miR-4778-3p	CLIP-seq
MIRT2443498	hsa-miR-592	CLIP-seq
MIRT2443499	hsa-miR-597	CLIP-seq
MIRT2443500	hsa-miR-599	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001508	Process	Action potential	IDA	11299204
GO:0005515	Function	Protein binding	IPI	17923693
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	10413680
GO:0005635	Component	Nuclear envelope	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005901	Component	Caveola	ISS
GO:0006605	Process	Protein targeting	NAS	7721854, 10413680
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	NAS	16177794
GO:0008179	Function	Adenylate cyclase binding	ISS
GO:0010739	Process	Positive regulation of protein kinase A signaling	ISS
GO:0010880	Process	Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	ISS
GO:0010959	Process	Regulation of metal ion transport	IEA
GO:0014701	Component	Junctional sarcoplasmic reticulum membrane	ISS
GO:0014704	Component	Intercalated disc	ISS	9679148
GO:0016020	Component	Membrane	IEA
GO:0016529	Component	Sarcoplasmic reticulum	IBA
GO:0016529	Component	Sarcoplasmic reticulum	IDA	7721854, 10830164
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0030307	Process	Positive regulation of cell growth	ISS	16177794
GO:0030315	Component	T-tubule	ISS	9679148
GO:0031965	Component	Nuclear membrane	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0034237	Function	Protein kinase A regulatory subunit binding	ISS
GO:0034704	Component	Calcium channel complex	IDA	10830164
GO:0043495	Function	Protein-membrane adaptor activity	ISS	10413680
GO:0044325	Function	Transmembrane transporter binding	IBA
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044325	Function	Transmembrane transporter binding	IPI	10830164
GO:0048471	Component	Perinuclear region of cytoplasm	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	11590243
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	ISS
GO:0051018	Function	Protein kinase A binding	IBA
GO:0051018	Function	Protein kinase A binding	NAS	10413680
GO:0051018	Function	Protein kinase A binding	TAS	10830164
GO:0051281	Process	Positive regulation of release of sequestered calcium ion into cytosol	ISS
GO:0060090	Function	Molecular adaptor activity	ISS
GO:0060306	Process	Regulation of membrane repolarization	IDA	11299204
GO:0061051	Process	Positive regulation of cell growth involved in cardiac muscle cell development	ISS
GO:0070886	Process	Positive regulation of calcineurin-NFAT signaling cascade	ISS
GO:0071320	Process	Cellular response to cAMP	IDA	11299204
GO:0071345	Process	Cellular response to cytokine stimulus	ISS	16177794
GO:0141161	Process	Regulation of cAMP/PKA signal transduction	ISS
GO:1901381	Process	Positive regulation of potassium ion transmembrane transport	IDA	11299204
GO:1904064	Process	Positive regulation of cation transmembrane transport	IEA

Other IDs

• MIM: 604691
• HGNC: 376
• e!Ensembl: ENSG00000151320

Protein

• UniProt ID: Q13023
• Protein name: A-kinase anchor protein 6 (AKAP-6) (A-kinase anchor protein 100 kDa) (AKAP 100) (Protein kinase A-anchoring protein 6) (PRKA6) (mAKAP)
• Protein function: Binds to type II regulatory subunits of protein kinase A and anchors/targets them to the nuclear membrane or sarcoplasmic reticulum. May act as an adapter for assembling multiprotein complexes.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00435	Spectrin	779 → 884	Spectrin repeat	Domain

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in cardiac and skeletal muscle, followed by brain.
• Sequence:

  MLTMSVTLSPLRSQDLDPMATDASPMAINMTPTVEQGEGEEAMKDMDSDQQYEKPPPLHT
  GADWKIVLHLPEIETWLRMTSERVRDLTYSVQQDSDSKHVDVHLVQLKDICEDISDHVEQ
  IHALLETEFSLKLLSYSVNVIVDIHAVQLLWHQLRVSVLVLRERILQGLQDANGNYTRQT
  DILQAFSEETKEGRLDSLTEVDDSGQLTIKCSQNYLSLDCGITAFELSDYSPSEDLLSGL
  GDMTSSQVKTKPFDSWSYSEMEKEFPELIRSVGLLTVAADSISTNGSEAVTEEVSQVSLS
  VDDKGGCEEDNASAVEEQPGLTLGVSSSSGEALTNAAQPSSETVQQESSSSSHHDAKNQQ
  PVPCENATPKRTIRDCFNYNEDSPTQPTLPKRGLFLKEETFKNDLKGNGGKRQMVDLKPE
  MSRSTPSLVDPPDRSKLCLVLQSSYPNSPSAASQSYECLHKVGNGNLENTVKFHIKEISS
  SLGRLNDCYKEKSRLKKPHKTSEEVPPCRTPKRGTGSGKQAKNTKSSAVPNGELSYTSKA
  IEGPQTNSASTSSLEPCNQRSWNAKLQLQSETSSSPAFTQSSESSVGSDNIMSPVPLLSK
  HKSKKGQASSPSHVTRNGEVVEAWYGSDEYLALPSHLKQTEVLALKLENLTKLLPQKPRG
  ETIQNIDDWELSEMNSDSEIYPTYHVKKKHTRLGRVSPSSSSDIASSLGESIESGPLSDI
  LSDEESSMPLAGMKKYADEKSERASSSEKNESHSATKSALIQKLMQDIQHQDNYEAIWEK
  IEGFVNKLDEFIQWLNEAMETTENWTPPKAEMDDLKLYLETHLSFKLNVDSHCALKEAVE
  EEGHQLLELIASHKAGLKDMLRMIASQWKELQRQIKRQHSWILRALDTIKAEILATDVSV
  EDEEGTGSPKAEVQLCYLEAQRDAVEQMSLKLYSEQYTSSSKRKEEFADMSKVHSVGSNG
  LLDFDSEYQELWDWLIDMESLVMDSHDLMMSEEQQQHLYKRYSVEMSIRHLKKTELLSKV
  EALKKGGVLLPNDLLEKVDSINEKWELLGKTLGEKIQDTMAGHSGSSPRDLLSPESGSLV
  RQLEVRIKELKGWLRDTELFIFNSCLRQEKEGTMNTEKQLQYFKSLCREIKQRRRGVASI
  LRLCQHLLDDRETCNLNADHQPMQLIIVNLERRWEAIVMQAVQWQTRLQKKMGKESETLN
  VIDPGLMDLNGMSEDALEWDEMDISNKLISLNEESNDLDQELQPVIPSLKLGETSNEDPG
  YDEEADNHGGSQYASNITAPSSPHIYQVYSLHNVELYEDNHMPFLKNNPKVTGMTQPNVL
  TKSLSKDSSFSSTKSLPDLLGGSNLVKPCACHGGDMSQNSGSESGIVSEGDTETTTNSEM
  CLLNAVDGSPSNLETEHLDPQMGDAVNVLKQKFTDEGESIKLPNSSQSSISPVGCVNGKV
  GDLNSITKHTPDCLGEELQGKHDVFTFYDYSYLQGSKLKLPMIMKQSQSEKAHVEDPLLR
  GFYFDKKSCKSKHQTTELQPDVPPHERILASASHEMDRISYKSGNIEKTFTGMQNAKQLS
  LLSHSSSIESLSPGGDLFGLGIFKNGSDSLQRSTSLESWLTSYKSNEDLFSCHSSGDISV
  SSGSVGELSKRTLDLLNRLENIQSPSEQKIKRSVSDITLQSSSQKMSFTGQMSLDIASSI
  NEDSAASLTELSSSDELSLCSEDIVLHKNKIPESNASFRKRLTRSVADESDVNVSMIVNV
  SCTSACTDDEDDSDLLSSSTLTLTEEELCIKDEDDDSSIATDDEIYEDCTLMSGLDYIKN
  ELQTWIRPKLSLTRDKKRCNVSDEMKGSKDISSSEMTNPSDTLNIETLLNGSVKRVSENN
  GNGKNSSHTHELGTKRENKKTIFKVNKDPYVADMENGNIEGIPERQKGKPNVTSKVSENL
  GSHGKEISESEHCKCKALMDSLDDSNTAGKEFVSQDVRHLPKKCPNHHHFENQSTASTPT
  EKSFSELALETRFNNRQDSDALKSSDDAPSMAGKSAGCCLALEQNGTEENASISNISCCN
  CEPDVFHQKDAEDCSVHNFVKEIIDMASTALKSKSQPENEVAAPTSLTQIKEKVLEHSHR
  PIQLRKGDFYSYLSLSSHDSDCGEVTNYIEEKSSTPLPLDTTDSGLDDKEDIECFFEACV
  EGDSDGEEPCFSSAPPNESAVPSEAAMPLQATACSSEFSDSSLSADDADTVALSSPSSQE
  RAEVGKEVNGLPQTSSGCAENLEFTPSKLDSEKESSGKPGESGMPEEHNAASAKSKVQDL
  SLKANQPTDKAALHPSPKTLTCEENLLNLHEKRHRNMHR

• Sequence length: 2319

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
AKAP6-related Intellectual Disability	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANOREXIA NERVOSA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EATING DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MORBID OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBSESSIVE-COMPULSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIODONTITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCOLIOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TOURETTE SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease	Alzheimer disease	Pubtator	36291125	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anorexia Nervosa	Anorexia	BEFREE	27483138		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anorexia Nervosa	Anorexia nervosa	Pubtator	27483138	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	16611749		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	GWASDB_DG	23181788		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	31759389	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015, 30061737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant compelling helio ophthalmic outburst syndrome	Achoo syndrome	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	31043756		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	29979793	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29979793		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	29600899	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	27483138	Associate	★☆☆☆☆ Found in Text Mining only
Central Nervous System Neoplasms	Central Nervous System Neoplasms	GWASCAT_DG	28346443		★☆☆☆☆ Found in Text Mining only
Cognitive Dysfunction	Cognition disorder	Pubtator	36291125	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	28067462, 28600779		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	33290408	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	27483138		★☆☆☆☆ Found in Text Mining only
Epilepsy, Partial, with Variable Foci	Epilepsy	BEFREE	16611749		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	29979793		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	GWASCAT_DG	28346443		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	BEFREE	31759389		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma	Glioma	Pubtator	31759389	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Diseases	Heart disease	Pubtator	29600899	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28067462		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	23628382	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	28600779		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	28600779		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Narcolepsy	Narcolepsy	GWASDB_DG	19629137		★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	28067462, 28600779		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	33290408	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764, 28991256, 30285260, 31374203		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ventricular Remodeling	Ventricular remodeling	Pubtator	29600899	Associate	★☆☆☆☆ Found in Text Mining only