PCDHA6 (protocadherin alpha 6)

Gene

• Entrez ID: 56142
• Gene name: Protocadherin alpha 6
• Gene symbol: PCDHA6
• Synonyms (NCBI Gene): CNR2, CNRN2, CNRS2, CRNR2, PCDH-ALPHA6
• Chromosome: 5
• Chromosome location: 5q31.3
• Summary: This gene is a member of the protocadherin alpha gene cluster, one of three related gene clusters tandemly linked on chromosome five that demonstrate an unusual genomic organization similar to that of B-cell and T-cell receptor gene clusters. The alpha ge

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028979	hsa-miR-26b-5p	Microarray	19088304
MIRT053676	hsa-miR-181a-5p	Microarray	22942087
MIRT053711	hsa-miR-221-3p	Microarray	22942087
MIRT637159	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT637158	hsa-miR-6823-5p	HITS-CLIP	19536157
MIRT637157	hsa-miR-7113-5p	HITS-CLIP	19536157
MIRT637156	hsa-miR-4685-5p	HITS-CLIP	19536157
MIRT637155	hsa-miR-6837-5p	HITS-CLIP	19536157
MIRT717270	hsa-miR-6741-3p	HITS-CLIP	19536157
MIRT637151	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT717269	hsa-miR-1307-3p	HITS-CLIP	19536157
MIRT717268	hsa-miR-4638-5p	HITS-CLIP	19536157
MIRT637148	hsa-miR-4772-3p	HITS-CLIP	19536157
MIRT637147	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT637145	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT637146	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT717267	hsa-miR-4284	HITS-CLIP	19536157
MIRT637143	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT637142	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT662895	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT662894	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT662893	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT662892	hsa-miR-940	HITS-CLIP	23824327
MIRT662891	hsa-miR-3929	HITS-CLIP	23824327
MIRT662890	hsa-miR-4419b	HITS-CLIP	23824327
MIRT662889	hsa-miR-4478	HITS-CLIP	23824327
MIRT662887	hsa-miR-5002-5p	HITS-CLIP	23824327
MIRT662888	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT662886	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT662885	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT662884	hsa-miR-665	HITS-CLIP	23824327
MIRT662883	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT662882	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT662881	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT662880	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT662879	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT662878	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT662877	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT662876	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT662875	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT662874	hsa-miR-3122	HITS-CLIP	23824327
MIRT662873	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT662872	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT662871	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT637160	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT637159	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT637158	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT637157	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT637156	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT637155	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT637154	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT637153	hsa-miR-4421	HITS-CLIP	23824327
MIRT637152	hsa-miR-5699-3p	HITS-CLIP	23824327
MIRT637151	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT637149	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT637150	hsa-miR-1976	HITS-CLIP	23824327
MIRT637148	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT637147	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT637145	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT637146	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT637144	hsa-miR-4279	HITS-CLIP	23824327
MIRT637143	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT637142	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT637141	hsa-miR-498	HITS-CLIP	23824327
MIRT449598	hsa-miR-548l	PAR-CLIP	22100165
MIRT449596	hsa-miR-3681-5p	PAR-CLIP	22100165
MIRT449597	hsa-miR-6849-5p	PAR-CLIP	22100165
MIRT449595	hsa-miR-4635	PAR-CLIP	22100165
MIRT449594	hsa-miR-3145-3p	PAR-CLIP	22100165
MIRT449593	hsa-miR-3201	PAR-CLIP	22100165
MIRT449592	hsa-miR-4791	PAR-CLIP	22100165
MIRT449591	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT449590	hsa-miR-376b-5p	PAR-CLIP	22100165
MIRT449589	hsa-miR-376c-5p	PAR-CLIP	22100165
MIRT449588	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT449587	hsa-miR-511-5p	PAR-CLIP	22100165
MIRT637159	hsa-miR-6890-3p	HITS-CLIP	19536157
MIRT637158	hsa-miR-6823-5p	HITS-CLIP	19536157
MIRT637157	hsa-miR-7113-5p	HITS-CLIP	19536157
MIRT637156	hsa-miR-4685-5p	HITS-CLIP	19536157
MIRT637155	hsa-miR-6837-5p	HITS-CLIP	19536157
MIRT717270	hsa-miR-6741-3p	HITS-CLIP	19536157
MIRT637151	hsa-miR-1304-3p	HITS-CLIP	19536157
MIRT717269	hsa-miR-1307-3p	HITS-CLIP	19536157
MIRT717268	hsa-miR-4638-5p	HITS-CLIP	19536157
MIRT637148	hsa-miR-4772-3p	HITS-CLIP	19536157
MIRT637147	hsa-miR-6778-3p	HITS-CLIP	19536157
MIRT637145	hsa-miR-6791-3p	HITS-CLIP	19536157
MIRT637146	hsa-miR-6829-3p	HITS-CLIP	19536157
MIRT717267	hsa-miR-4284	HITS-CLIP	19536157
MIRT637143	hsa-miR-5001-3p	HITS-CLIP	19536157
MIRT637142	hsa-miR-6836-3p	HITS-CLIP	19536157
MIRT662895	hsa-miR-34b-3p	HITS-CLIP	23824327
MIRT662894	hsa-miR-6808-5p	HITS-CLIP	23824327
MIRT662893	hsa-miR-6893-5p	HITS-CLIP	23824327
MIRT662892	hsa-miR-940	HITS-CLIP	23824327
MIRT662891	hsa-miR-3929	HITS-CLIP	23824327
MIRT662890	hsa-miR-4419b	HITS-CLIP	23824327
MIRT662889	hsa-miR-4478	HITS-CLIP	23824327
MIRT662887	hsa-miR-5002-5p	HITS-CLIP	23824327
MIRT662888	hsa-miR-3614-5p	HITS-CLIP	23824327
MIRT662886	hsa-miR-6500-3p	HITS-CLIP	23824327
MIRT662885	hsa-miR-4768-3p	HITS-CLIP	23824327
MIRT662884	hsa-miR-665	HITS-CLIP	23824327
MIRT662883	hsa-miR-4649-3p	HITS-CLIP	23824327
MIRT662882	hsa-miR-485-5p	HITS-CLIP	23824327
MIRT662881	hsa-miR-6884-5p	HITS-CLIP	23824327
MIRT662880	hsa-miR-4722-5p	HITS-CLIP	23824327
MIRT662879	hsa-miR-7160-5p	HITS-CLIP	23824327
MIRT662878	hsa-miR-30c-1-3p	HITS-CLIP	23824327
MIRT662877	hsa-miR-30c-2-3p	HITS-CLIP	23824327
MIRT662876	hsa-miR-6788-5p	HITS-CLIP	23824327
MIRT662875	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT662874	hsa-miR-3122	HITS-CLIP	23824327
MIRT662873	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT662872	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT662871	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT637160	hsa-miR-5571-5p	HITS-CLIP	23824327
MIRT637159	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT637158	hsa-miR-6823-5p	HITS-CLIP	23824327
MIRT637157	hsa-miR-7113-5p	HITS-CLIP	23824327
MIRT637156	hsa-miR-4685-5p	HITS-CLIP	23824327
MIRT637155	hsa-miR-6837-5p	HITS-CLIP	23824327
MIRT637154	hsa-miR-6748-3p	HITS-CLIP	23824327
MIRT637153	hsa-miR-4421	HITS-CLIP	23824327
MIRT637152	hsa-miR-5699-3p	HITS-CLIP	23824327
MIRT637151	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT637149	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT637150	hsa-miR-1976	HITS-CLIP	23824327
MIRT637148	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT637147	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT637145	hsa-miR-6791-3p	HITS-CLIP	23824327
MIRT637146	hsa-miR-6829-3p	HITS-CLIP	23824327
MIRT637144	hsa-miR-4279	HITS-CLIP	23824327
MIRT637143	hsa-miR-5001-3p	HITS-CLIP	23824327
MIRT637142	hsa-miR-6836-3p	HITS-CLIP	23824327
MIRT637141	hsa-miR-498	HITS-CLIP	23824327
MIRT449598	hsa-miR-548l	PAR-CLIP	22100165
MIRT449596	hsa-miR-3681-5p	PAR-CLIP	22100165
MIRT449597	hsa-miR-6849-5p	PAR-CLIP	22100165
MIRT449595	hsa-miR-4635	PAR-CLIP	22100165
MIRT449594	hsa-miR-3145-3p	PAR-CLIP	22100165
MIRT449593	hsa-miR-3201	PAR-CLIP	22100165
MIRT449592	hsa-miR-4791	PAR-CLIP	22100165
MIRT449591	hsa-miR-431-5p	PAR-CLIP	22100165
MIRT449590	hsa-miR-376b-5p	PAR-CLIP	22100165
MIRT449589	hsa-miR-376c-5p	PAR-CLIP	22100165
MIRT449588	hsa-miR-488-3p	PAR-CLIP	22100165
MIRT449587	hsa-miR-511-5p	PAR-CLIP	22100165

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	10380929
GO:0007155	Process	Cell adhesion	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007155	Process	Cell adhesion	TAS	10380929
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0007399	Process	Nervous system development	TAS	10380929
GO:0016020	Component	Membrane	IEA
GO:0050839	Function	Cell adhesion molecule binding	IBA

Other IDs

• MIM: 606312
• HGNC: 8672
• e!Ensembl: ENSG00000081842

Protein

• UniProt ID: Q9UN73
• Protein name: Protocadherin alpha-6 (PCDH-alpha-6)
• Protein function: Potential calcium-dependent cell-adhesion protein. May be involved in the establishment and maintenance of specific neuronal connections in the brain.
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08266	Cadherin_2	30 → 112	Cadherin-like	Domain
  PF00028	Cadherin	138 → 233	Cadherin domain	Domain
  PF00028	Cadherin	247 → 341	Cadherin domain	Domain
  PF00028	Cadherin	355 → 446	Cadherin domain	Domain
  PF00028	Cadherin	460 → 556	Cadherin domain	Domain
  PF00028	Cadherin	577 → 670	Cadherin domain	Domain
  PF15974	Cadherin_tail	800 → 933	Cadherin C-terminal cytoplasmic tail, catenin-binding region	Family

• Sequence:

  MVFTPEDRLGKQCLLLPLLLLAAWKVGSGQLHYSVPEEAKHGTFVGRIAQDLGLELAELV
  PRLFRMASKDREDLLEVNLQNGILFVNSRIDREELCGRSAECSIHLEVIVDRPLQVFHVD
  VEVRDINDNPPLFPVEEQRVLIYESRLPDSVFPLEGASDADVGSNSILTYKLSSSEYFGL
  DVKINSDDNKQIGLLLKKSLDREEAPAHNLFLTATDGGKPELTGTVQLLVTVLDVNDNAP
  TFEQSEYEVRIFENADNGTTVIRLNASDRDEGANGAISYSFNSLVAAMVIDHFSIDRNTG
  EIVIRGNLDFEQENLYKILIDATDKGHPPMAGHCTVLVRILDKNDNVPEIALTSLSLPVR
  EDAQFGTVIALISVNDLDSGANGQVNCSLTPHVPFKLVSTFKNYYSLVLDSALDRESVSA
  YELVVTARDGGSPSLWATASLSVEVADMNDNAPAFAQPEYTVFVKENNPPGCHIFTVSAR
  DADAQENALVSYSLVERRVGERALSSYISVHAESGKVYALQPLDHEELELLQFQVSARDA
  GVPPLGSNVTLQVFVLDENDNAPALLAPRVGGTGGAVSELVPRSLGAGQVVAKVRAVDAD
  SGYNAWLSYELQPPASSARFPFRVGLYTGEISTTRVLDEADSPRHRLLVLVKDHGEPALT
  ATATVLVSLVESGQAPKASSRASVGAAGPEAALVDVNVYLIIAICAVSSLLVLTLLLYTA
  LRCSAPPTEGACTADKPTLVCSSAVGSWSYSQQRRQRVCSGEGPPKMDLMAFSPSLSPCP
  IMMGKAENQDLNEDHDAKPRQPNPDWRYSASLRAGMHSSVHLEEAGILRAGPGGPDQQWP
  TVSSATPEPEAGEVSPPVGAGVNSNSWTFKYGPGNPKQSGPGELPDKFIIPGSPAIISIR
  QEPTNSQIDKSDFITFGKKEETKKKKKKKKGNKTQEKKEKGNSTTDNSDQ

• Sequence length: 950

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
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ 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
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	15039279		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	15039279		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	30119202		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	31452735		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	33810505	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	36006974	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	29736745		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	22233683, 24408112, 24722782		★☆☆☆☆ Found in Text Mining only
Amyloidosis cutis dyschromia	Amyloidosis Cutis Dyschromia	BEFREE	31429590		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	16781706, 17241118, 23795580, 24703394		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	18197164		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29234141, 31382124		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	27346075, 29234141, 31382124		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15815632, 17660390, 18614816, 20075743, 22612332, 31448709		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	31370242		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	18416822, 25477254	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	27992060		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	10749665		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	20090845	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	15815632, 17660390, 18614816, 20075743, 22612332, 31448709		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	CTD_human_DG	15815632		★☆☆☆☆ Found in Text Mining only
Atherosclerotic Parkinsonism	Atherosclerotic Parkinsonism	CTD_human_DG	27317300		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	BEFREE	23585028, 28671614		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	15845647, 22465144		★☆☆☆☆ Found in Text Mining only
Avellino corneal dystrophy	Avellino Corneal Dystrophy	BEFREE	31429590		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	21658778, 31159897		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	21658778		★☆☆☆☆ Found in Text Mining only
Bladder neck obstruction	Bladder neck obstruction	BEFREE	29284441		★☆☆☆☆ Found in Text Mining only
Body Weight	Body weight	Pubtator	23839870	Associate	★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	22048168	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	33053117, 35472140, 35862357	Associate	★☆☆☆☆ Found in Text Mining only
Bone Resorption	Bone resorption	Pubtator	35472140	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	16818634		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19887554, 26195631, 27213582		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37220224, 39527598	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	37700679	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	31053086	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	37220224	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28993942, 29792186	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	22612332, 30459625		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	27082728	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	22465144, 29694791		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	23620805	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31452735		★☆☆☆☆ Found in Text Mining only
Chronic Pain	Chronic pain	Pubtator	25477254	Associate	★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	17074588		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	17241118		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	18493729, 31532239		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31452735		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	36652260	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	25749560, 28315398		★☆☆☆☆ Found in Text Mining only
Congenital Hypothyroidism	Congenital Hypothyroidism	BEFREE	28799288		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	22612332		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28993942		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	39652903	Associate	★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	31729056		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	18799087		★☆☆☆☆ Found in Text Mining only
Depression, Neurotic	Mental Depression	CTD_human_DG	18286196		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	17105950, 18286196, 18991891, 22826533, 31725603		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	CTD_human_DG	18286196		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	18286196, 18991891, 20649579, 22826533, 24467609		★☆☆☆☆ Found in Text Mining only
Depressive Syndrome	Mental Depression	CTD_human_DG	18286196		★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	BEFREE	31429590		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31461639		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	35580523	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	23839870, 36949158	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23839870		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	36949158	Associate	★☆☆☆☆ Found in Text Mining only
Eating Disorders	Eating Disorders	BEFREE	19768813		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	Pubtator	21450051	Associate	★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	28079433		★☆☆☆☆ Found in Text Mining only
Endogenous depression	Mental Depression	CTD_human_DG	18286196		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	30800671	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	27992060		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31758544		★☆☆☆☆ Found in Text Mining only
Familial Alzheimer Disease (FAD)	Alzheimer disease	BEFREE	29793509		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	25064094, 29932291	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	CTD_human_DG	15765409		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	16715087, 28315398, 28759568		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	16893424, 22176552	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	22612332		★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	29932291	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	25064094	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis Chronic	Hepatitis	Pubtator	28759568	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	19805493, 21545415		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	BEFREE	27769788		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31777533		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	CTD_human_DG	16924491		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	19619644, 21872477, 23470778	Associate	★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	21828121, 23406660		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29547827		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	23849204, 25599774, 27875353		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	32213014, 35472140, 39652903	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	40332343	Inhibit	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	36949158	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	30793435, 31336406		★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	31336406	Stimulate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	31833409	Associate	★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	25974389		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	19539619		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	29187590, 30707046		★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	30842391	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	10036999		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid	Myeloid leukemia	Pubtator	15039279	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15039279	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	12799277, 15039279		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	15039279		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17074588, 29369947, 31423220		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	17074588		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	CTD_human_DG	15765409		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	17074588		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	28759568, 36675254	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	28759568, 29932291	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	30728209	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	30728209		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	26539529	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27479909, 29942085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant Bone Neoplasm	Malignant Bone Neoplasm	BEFREE	26935064, 28840279, 31661120		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	16818634		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19887554, 26195631, 27213582		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	CTD_human_DG	16818650		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	GWASDB_DG	24185611		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30242861		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25640641, 28274851		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	16818634		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	16818634		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	16818634		★☆☆☆☆ Found in Text Mining only
Melancholia	Melancholia	CTD_human_DG	18286196		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23361273	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	17105950, 18286196, 18991891, 22826533, 31725603		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	18286196, 18991891, 20649579, 22826533, 24467609		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	25014618		★☆☆☆☆ Found in Text Mining only
Motion Sickness	Motion Sickness	BEFREE	20505775		★☆☆☆☆ Found in Text Mining only
Motor neuron atrophy	Motor neuron atrophy	BEFREE	17241118		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	35692500	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	25640641		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	25640641, 32471216	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	18334483, 23795580, 25169051, 28219703, 28716266, 31407233		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	18334483		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	21251115, 23658734, 25704169	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	25169051	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	18636169, 30459625, 30554372, 30923227		★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	36036911	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28274851, 30240926, 30776504		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	27013280, 28219703, 28220706		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12813001		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	21872477, 27867058	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16781706, 19805493, 21545415, 23795580, 25863279, 28210207, 29353725		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	17311616		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22927922, 26447698	Associate	★☆☆☆☆ Found in Text Mining only
Optic Atrophy 1	Optic Atrophy	BEFREE	30233383		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	18416822, 25477254, 27082728	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis, Knee	Knee osteoarthritis	BEFREE	30510442		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	28752643, 31121356		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	16204352, 17390085, 19565271, 19634029, 21447627, 26055357, 31352121, 31832174		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	LHGDN	16204352, 17390085		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35472140	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	35862357	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis, Age-Related	Osteoporosis	BEFREE	18071301, 28752643		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	BEFREE	17390085, 19634029		★☆☆☆☆ Found in Text Mining only
Osteoporosis, Postmenopausal	Osteoporosis	LHGDN	17390085		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	31941496	Stimulate	★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	35692500	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasm	Pancreatic Neoplasm	CTD_human_DG	16818650		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	17484889		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	CTD_human_DG	17484889		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	18198416, 21545415, 25863279, 28978077, 29234141, 30314601, 31442553		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	29352424, 36006974	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease, Secondary Vascular	Parkinson Disease	CTD_human_DG	27317300		★☆☆☆☆ Found in Text Mining only
Pediatric Obesity	Childhood obesity	BEFREE	26447698, 27294325		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	35719011	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	31354896		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31354896		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	25935491	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	30242861		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	17068343		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19908944, 29330286, 31991773	Associate	★☆☆☆☆ Found in Text Mining only
Pseudohyperkalemia Cardiff	Pseudohyperkalemia Cardiff	BEFREE	25064094		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	30675824, 31777533		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28993942		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29789558		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	18799087		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30032418, 30208760, 30943136, 31139184		★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	39940911	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	19931854, 23846977, 25014618, 28138895		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	19931854, 21430651, 23846977, 25014618		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	Pubtator	34171108	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Secondary Parkinson Disease	Parkinson disease	CTD_human_DG	27317300		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29317072, 31767546		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	LHGDN	12511587, 18483286		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	29547827		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	23707465, 25064094, 29932291		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	20508030		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	26539529	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	18197164		★☆☆☆☆ Found in Text Mining only
Thyroiditis	Thyroiditis	Pubtator	26539529	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	30240926		★☆☆☆☆ Found in Text Mining only
Unipolar Depression	Mental Depression	CTD_human_DG	18286196		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	28191815	Associate	★☆☆☆☆ Found in Text Mining only
Van der Woude syndrome	Van Der Woude Syndrome	BEFREE	25863279		★☆☆☆☆ Found in Text Mining only