PANX1 (pannexin 1)

Gene

• Entrez ID: 24145
• Gene name: Pannexin 1
• Gene symbol: PANX1
• Synonyms (NCBI Gene): MRS1, OOMD7, OZEMA7, PX1, UNQ2529
• Chromosome: 11
• Chromosome location: 11q21
• Summary: The protein encoded by this gene belongs to the innexin family. Innexin family members are the structural components of gap junctions. This protein and pannexin 2 are abundantly expressed in central nerve system (CNS) and are coexpressed in various neuron

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1212949833	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs1591499598	CGGAGCCCA>-	Pathogenic	Genic upstream transcript variant, coding sequence variant, 5 prime UTR variant, inframe deletion
rs1591529130	A>G	Pathogenic	Coding sequence variant, missense variant
rs1591529258	C>T	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001433	hsa-miR-16-5p	pSILAC	18668040
MIRT004125	hsa-miR-192-5p	Microarray	16822819
MIRT021301	hsa-miR-125a-5p	Sequencing	20371350
MIRT025607	hsa-miR-10a-5p	Sequencing	20371350
MIRT004125	hsa-miR-192-5p	Microarray	19074876
MIRT001433	hsa-miR-16-5p	Proteomics;Other	18668040
MIRT535518	hsa-miR-548n	PAR-CLIP	22012620
MIRT535517	hsa-miR-548az-5p	PAR-CLIP	22012620
MIRT535516	hsa-miR-548t-5p	PAR-CLIP	22012620
MIRT535515	hsa-miR-548a-5p	PAR-CLIP	22012620
MIRT535514	hsa-miR-548ab	PAR-CLIP	22012620
MIRT535513	hsa-miR-548ad-5p	PAR-CLIP	22012620
MIRT535512	hsa-miR-548ae-5p	PAR-CLIP	22012620
MIRT535511	hsa-miR-548ak	PAR-CLIP	22012620
MIRT535510	hsa-miR-548am-5p	PAR-CLIP	22012620
MIRT535509	hsa-miR-548ap-5p	PAR-CLIP	22012620
MIRT535508	hsa-miR-548aq-5p	PAR-CLIP	22012620
MIRT535507	hsa-miR-548ar-5p	PAR-CLIP	22012620
MIRT535506	hsa-miR-548as-5p	PAR-CLIP	22012620
MIRT535505	hsa-miR-548au-5p	PAR-CLIP	22012620
MIRT535504	hsa-miR-548ay-5p	PAR-CLIP	22012620
MIRT535503	hsa-miR-548b-5p	PAR-CLIP	22012620
MIRT535502	hsa-miR-548bb-5p	PAR-CLIP	22012620
MIRT535501	hsa-miR-548c-5p	PAR-CLIP	22012620
MIRT535500	hsa-miR-548d-5p	PAR-CLIP	22012620
MIRT535499	hsa-miR-548h-5p	PAR-CLIP	22012620
MIRT535498	hsa-miR-548i	PAR-CLIP	22012620
MIRT535497	hsa-miR-548j-5p	PAR-CLIP	22012620
MIRT535496	hsa-miR-548o-5p	PAR-CLIP	22012620
MIRT535495	hsa-miR-548w	PAR-CLIP	22012620
MIRT535494	hsa-miR-548y	PAR-CLIP	22012620
MIRT535493	hsa-miR-559	PAR-CLIP	22012620
MIRT535492	hsa-miR-890	PAR-CLIP	22012620
MIRT535518	hsa-miR-548n	PAR-CLIP	22012620
MIRT535517	hsa-miR-548az-5p	PAR-CLIP	22012620
MIRT535516	hsa-miR-548t-5p	PAR-CLIP	22012620
MIRT535515	hsa-miR-548a-5p	PAR-CLIP	22012620
MIRT535514	hsa-miR-548ab	PAR-CLIP	22012620
MIRT535513	hsa-miR-548ad-5p	PAR-CLIP	22012620
MIRT535512	hsa-miR-548ae-5p	PAR-CLIP	22012620
MIRT535511	hsa-miR-548ak	PAR-CLIP	22012620
MIRT535510	hsa-miR-548am-5p	PAR-CLIP	22012620
MIRT535509	hsa-miR-548ap-5p	PAR-CLIP	22012620
MIRT535508	hsa-miR-548aq-5p	PAR-CLIP	22012620
MIRT535507	hsa-miR-548ar-5p	PAR-CLIP	22012620
MIRT535506	hsa-miR-548as-5p	PAR-CLIP	22012620
MIRT535505	hsa-miR-548au-5p	PAR-CLIP	22012620
MIRT535504	hsa-miR-548ay-5p	PAR-CLIP	22012620
MIRT535503	hsa-miR-548b-5p	PAR-CLIP	22012620
MIRT535502	hsa-miR-548bb-5p	PAR-CLIP	22012620
MIRT535501	hsa-miR-548c-5p	PAR-CLIP	22012620
MIRT535500	hsa-miR-548d-5p	PAR-CLIP	22012620
MIRT535499	hsa-miR-548h-5p	PAR-CLIP	22012620
MIRT535498	hsa-miR-548i	PAR-CLIP	22012620
MIRT535497	hsa-miR-548j-5p	PAR-CLIP	22012620
MIRT535496	hsa-miR-548o-5p	PAR-CLIP	22012620
MIRT535495	hsa-miR-548w	PAR-CLIP	22012620
MIRT535494	hsa-miR-548y	PAR-CLIP	22012620
MIRT535493	hsa-miR-559	PAR-CLIP	22012620
MIRT535492	hsa-miR-890	PAR-CLIP	22012620
MIRT1212394	hsa-miR-10a	CLIP-seq
MIRT1212395	hsa-miR-10b	CLIP-seq
MIRT1212396	hsa-miR-1208	CLIP-seq
MIRT1212397	hsa-miR-1257	CLIP-seq
MIRT1212398	hsa-miR-1276	CLIP-seq
MIRT1212399	hsa-miR-219-2-3p	CLIP-seq
MIRT1212400	hsa-miR-224	CLIP-seq
MIRT1212401	hsa-miR-2964a-3p	CLIP-seq
MIRT1212402	hsa-miR-298	CLIP-seq
MIRT1212403	hsa-miR-3161	CLIP-seq
MIRT1212404	hsa-miR-3616-5p	CLIP-seq
MIRT1212405	hsa-miR-362-5p	CLIP-seq
MIRT1212406	hsa-miR-3647-5p	CLIP-seq
MIRT1212407	hsa-miR-374a	CLIP-seq
MIRT1212408	hsa-miR-374b	CLIP-seq
MIRT1212409	hsa-miR-3919	CLIP-seq
MIRT1212410	hsa-miR-4311	CLIP-seq
MIRT1212411	hsa-miR-4495	CLIP-seq
MIRT1212412	hsa-miR-4680-3p	CLIP-seq
MIRT1212413	hsa-miR-4729	CLIP-seq
MIRT1212414	hsa-miR-4732-3p	CLIP-seq
MIRT1212415	hsa-miR-4760-5p	CLIP-seq
MIRT1212416	hsa-miR-4762-5p	CLIP-seq
MIRT1212417	hsa-miR-4795-3p	CLIP-seq
MIRT1212418	hsa-miR-500b	CLIP-seq
MIRT1212419	hsa-miR-501-5p	CLIP-seq
MIRT1212420	hsa-miR-511	CLIP-seq
MIRT1212421	hsa-miR-549	CLIP-seq
MIRT1212422	hsa-miR-570	CLIP-seq
MIRT1212423	hsa-miR-573	CLIP-seq
MIRT1212424	hsa-miR-583	CLIP-seq
MIRT1212425	hsa-miR-605	CLIP-seq
MIRT1212426	hsa-miR-656	CLIP-seq
MIRT2060998	hsa-miR-3910	CLIP-seq
MIRT2060999	hsa-miR-4265	CLIP-seq
MIRT2061000	hsa-miR-4296	CLIP-seq
MIRT2061001	hsa-miR-4322	CLIP-seq
MIRT2061002	hsa-miR-4417	CLIP-seq
MIRT2061003	hsa-miR-4640-5p	CLIP-seq
MIRT2061004	hsa-miR-4726-5p	CLIP-seq
MIRT1212417	hsa-miR-4795-3p	CLIP-seq
MIRT2061005	hsa-miR-574-5p	CLIP-seq
MIRT2289694	hsa-miR-124	CLIP-seq
MIRT2289695	hsa-miR-128	CLIP-seq
MIRT2289696	hsa-miR-130a	CLIP-seq
MIRT2289697	hsa-miR-130b	CLIP-seq
MIRT2289698	hsa-miR-148a	CLIP-seq
MIRT2289699	hsa-miR-148b	CLIP-seq
MIRT2289700	hsa-miR-152	CLIP-seq
MIRT2289701	hsa-miR-301a	CLIP-seq
MIRT2289702	hsa-miR-301b	CLIP-seq
MIRT2289703	hsa-miR-3065-5p	CLIP-seq
MIRT2289704	hsa-miR-3162-5p	CLIP-seq
MIRT2289705	hsa-miR-342-5p	CLIP-seq
MIRT2289706	hsa-miR-3617	CLIP-seq
MIRT2289707	hsa-miR-3666	CLIP-seq
MIRT2289708	hsa-miR-3922-5p	CLIP-seq
MIRT2060999	hsa-miR-4265	CLIP-seq
MIRT2289709	hsa-miR-4295	CLIP-seq
MIRT2061000	hsa-miR-4296	CLIP-seq
MIRT2061001	hsa-miR-4322	CLIP-seq
MIRT2061002	hsa-miR-4417	CLIP-seq
MIRT1212411	hsa-miR-4495	CLIP-seq
MIRT2289710	hsa-miR-454	CLIP-seq
MIRT2289711	hsa-miR-4662a-5p	CLIP-seq
MIRT2289712	hsa-miR-4664-5p	CLIP-seq
MIRT1212417	hsa-miR-4795-3p	CLIP-seq
MIRT2289713	hsa-miR-4797-3p	CLIP-seq
MIRT2289714	hsa-miR-506	CLIP-seq
MIRT2061005	hsa-miR-574-5p	CLIP-seq
MIRT2289715	hsa-miR-587	CLIP-seq
MIRT1212425	hsa-miR-605	CLIP-seq
MIRT2289716	hsa-miR-641	CLIP-seq
MIRT2289717	hsa-miR-885-5p	CLIP-seq
MIRT2587457	hsa-miR-1179	CLIP-seq
MIRT2587458	hsa-miR-1197	CLIP-seq
MIRT2587459	hsa-miR-1246	CLIP-seq
MIRT2587460	hsa-miR-125a-3p	CLIP-seq
MIRT2587461	hsa-miR-1266	CLIP-seq
MIRT2587462	hsa-miR-2115	CLIP-seq
MIRT2587463	hsa-miR-2355-5p	CLIP-seq
MIRT2587464	hsa-miR-2964a-5p	CLIP-seq
MIRT2587465	hsa-miR-3117-3p	CLIP-seq
MIRT2587466	hsa-miR-3182	CLIP-seq
MIRT2587467	hsa-miR-337-3p	CLIP-seq
MIRT2587468	hsa-miR-3664-3p	CLIP-seq
MIRT2587469	hsa-miR-3675-3p	CLIP-seq
MIRT2587470	hsa-miR-3679-3p	CLIP-seq
MIRT2587471	hsa-miR-378g	CLIP-seq
MIRT2587472	hsa-miR-3934	CLIP-seq
MIRT2587473	hsa-miR-3941	CLIP-seq
MIRT2587474	hsa-miR-4286	CLIP-seq
MIRT2587475	hsa-miR-4437	CLIP-seq
MIRT2587476	hsa-miR-4518	CLIP-seq
MIRT2587477	hsa-miR-4643	CLIP-seq
MIRT2587478	hsa-miR-466	CLIP-seq
MIRT2289711	hsa-miR-4662a-5p	CLIP-seq
MIRT2587479	hsa-miR-4672	CLIP-seq
MIRT2587480	hsa-miR-4674	CLIP-seq
MIRT2587481	hsa-miR-4676-5p	CLIP-seq
MIRT2587482	hsa-miR-4677-3p	CLIP-seq
MIRT2587483	hsa-miR-4679	CLIP-seq
MIRT2587484	hsa-miR-4747-5p	CLIP-seq
MIRT2587485	hsa-miR-4789-3p	CLIP-seq
MIRT1212417	hsa-miR-4795-3p	CLIP-seq
MIRT2587486	hsa-miR-516a-3p	CLIP-seq
MIRT2587487	hsa-miR-575	CLIP-seq
MIRT2289715	hsa-miR-587	CLIP-seq
MIRT2587488	hsa-miR-653	CLIP-seq
MIRT2587489	hsa-miR-671-5p	CLIP-seq
MIRT2587490	hsa-miR-764	CLIP-seq
MIRT2587460	hsa-miR-125a-3p	CLIP-seq
MIRT2587461	hsa-miR-1266	CLIP-seq
MIRT2587462	hsa-miR-2115	CLIP-seq
MIRT2587467	hsa-miR-337-3p	CLIP-seq
MIRT2587468	hsa-miR-3664-3p	CLIP-seq
MIRT2587469	hsa-miR-3675-3p	CLIP-seq
MIRT2587472	hsa-miR-3934	CLIP-seq
MIRT2587473	hsa-miR-3941	CLIP-seq
MIRT2587476	hsa-miR-4518	CLIP-seq
MIRT2587477	hsa-miR-4643	CLIP-seq
MIRT2587478	hsa-miR-466	CLIP-seq
MIRT2587479	hsa-miR-4672	CLIP-seq
MIRT2587484	hsa-miR-4747-5p	CLIP-seq
MIRT2587485	hsa-miR-4789-3p	CLIP-seq
MIRT2587486	hsa-miR-516a-3p	CLIP-seq
MIRT2587490	hsa-miR-764	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IEA
GO:0002931	Process	Response to ischemia	IEA
GO:0003779	Function	Actin binding	IEA
GO:0005102	Function	Signaling receptor binding	IPI	17036048
GO:0005198	Function	Structural molecule activity	IEA
GO:0005198	Function	Structural molecule activity	ISS
GO:0005243	Function	Gap junction channel activity	IEA
GO:0005253	Function	Monoatomic anion channel activity	IEA
GO:0005253	Function	Monoatomic anion channel activity	ISS
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	IMP	16908669
GO:0005347	Function	ATP transmembrane transporter activity	IDA	15304325
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005783	Component	Endoplasmic reticulum	IDA	16908669
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	17036048
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0005921	Component	Gap junction	IDA	16908669, 17715132
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	IBA
GO:0006812	Process	Monoatomic cation transport	IDA	17036048
GO:0006812	Process	Monoatomic cation transport	IEA
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	IMP	16908669
GO:0007267	Process	Cell-cell signaling	IBA
GO:0007267	Process	Cell-cell signaling	IEA
GO:0015267	Function	Channel activity	IEA
GO:0015867	Process	ATP transport	IDA	15304325
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0022829	Function	Wide pore channel activity	IBA
GO:0022840	Function	Leak channel activity	IMP	16908669
GO:0030154	Process	Cell differentiation	IEA
GO:0032059	Component	Bleb	IDA	17036048
GO:0032730	Process	Positive regulation of interleukin-1 alpha production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IDA	17036048
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032732	Process	Positive regulation of interleukin-1 production	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033198	Process	Response to ATP	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0042802	Function	Identical protein binding	IPI	32231289, 32494015
GO:0044325	Function	Transmembrane transporter binding	IEA
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0048477	Process	Oogenesis	IEA
GO:0051015	Function	Actin filament binding	IEA
GO:0055077	Function	Gap junction hemi-channel activity	ISS
GO:0060907	Process	Positive regulation of macrophage cytokine production	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0097110	Function	Scaffold protein binding	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	IEA
GO:0098656	Process	Monoatomic anion transmembrane transport	ISS

Other IDs

• MIM: 608420
• HGNC: 8599
• e!Ensembl: ENSG00000110218

Protein

• UniProt ID: Q96RD7
• Protein name: Pannexin-1 (PANX1) [Cleaved into: Caspase-activated pannexin-1 (Caspase-activated PANX1)]
• Protein function: Ion channel involved in a variety of physiological functions such as blood pressure regulation, apoptotic cell clearance and oogenesis (PubMed:15304325, PubMed:16908669, PubMed:20829356, PubMed:20944749, PubMed:30918116). Forms anion-selective c
• PDB: 6LTN, 6LTO, 6M02, 6M66, 6M67, 6M68, 6V6D, 6WBF, 6WBG, 6WBI, 6WBK, 6WBL, 6WBM, 6WBN, 7DWB, 7F8J, 7F8N, 7F8O, 7WSV, 8GTS, 8GTT, 8GYO
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00876	Innexin	33 → 263	Innexin	Family

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed (PubMed:30918116). Highest expression is observed in oocytes and brain (PubMed:30918116). Detected at very low levels in sperm cells (PubMed:30918116). {ECO:0000269|PubMed:30918116}.
• Sequence:

  MAIAQLATEYVFSDFLLKEPTEPKFKGLRLELAVDKMVTCIAVGLPLLLISLAFAQEISI
  GTQISCFSPSSFSWRQAAFVDSYCWAAVQQKNSLQSESGNLPLWLHKFFPYILLLFAILL
  YLPPLFWRFAAAPHICSDLKFIMEELDKVYNRAIKAAKSARDLDMRDGACSVPGVTENLG
  QSLWEVSESHFKYPIVEQYLKTKKNSNNLIIKYISCRLLTLIIILLACIYLGYYFSLSSL
  SDEFVCSIKSGILRNDSTVPDQFQCKLIAVGIFQLLSVINLVVYVLLAPVVVYTLFVPFR
  QKTDVLKVYEILPTFDVLHFKSEGYNDLSLYNLFLEENISEVKSYKCLKVLENIKSSGQG
  IDPMLLLTNLGMIKMDVVDGKTPMSAEMREEQGNQTAELQGMNIDSETKANNGEKNARQR
  LLDSSC

• Sequence length: 426

Pathways

KEGG:

Efferocytosis
NOD-like receptor signaling pathway

Reactome:

Electric Transmission Across Gap Junctions
The NLRP3 inflammasome

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Oocyte maturation defect 7	Pathogenic	rs1591529258, rs1212949833, rs1591529130, rs1591499598	RCV000850135 RCV000850136 RCV000850137 RCV000850138	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE INFERTILITY DUE TO OOCYTE MEIOTIC ARREST	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOTHYROIDISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER FAILURE, ACUTE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 7	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANX1-related disorder	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alveolar rhabdomyosarcoma	Alveolar Rhabdomyosarcoma	BEFREE	30459312		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	28612258		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	29221793		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	29221793		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm	Aortic aneurysm	Pubtator	35315432	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	35315432	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	29057961		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	30101191		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	29057961		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	31211503		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	26098574, 31817827		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33405952	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	35682601	Associate	★☆☆☆☆ Found in Text Mining only
Cardioembolic stroke	Cardioembolic Stroke	BEFREE	27469539		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27469539, 28445139		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28735901		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	22426419, 30127744, 31182999		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38195677	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	22426419, 23594276		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	29221793		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	29895988		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	29895988		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	28390953		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	31400255		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36601599	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	28036289, 28886985, 29848662		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	28036289, 36037373	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	29848662		★☆☆☆☆ Found in Text Mining only
Familial Hemiplegic Migraine	Hemiplegic Migraine	BEFREE	28430869		★☆☆☆☆ Found in Text Mining only
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	28036289		★☆☆☆☆ Found in Text Mining only
Focal cortical dysplasia	Focal cortical dysplasia	BEFREE	28036289		★☆☆☆☆ Found in Text Mining only
Focal Cortical Dysplasia	Focal cortical dysplasia	Pubtator	28036289	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	30050451		★☆☆☆☆ Found in Text Mining only
Hereditary pyropoikilocytosis	Hereditary pyropoikilocytosis	BEFREE	29551976		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	GWASCAT_DG	30595370		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Infertility	Infertility	Pubtator	36469255	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	35834089, 36469255	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	22426419, 23594276, 30127744		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	36248807	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	29563335		★☆☆☆☆ Found in Text Mining only
Keratitis	Keratitis	BEFREE	30793631		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	31242494, 31694915		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	25112874	Associate	★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	27229462		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	31737105		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	34218459	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	CTD_human_DG	29246445		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	39600278	Associate	★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	28036289	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	26098574, 31817827		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	28780469, 31202174		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30633389		★☆☆☆☆ Found in Text Mining only
Malignant Testicular Germ Cell Tumor	Malignant testicular germ cell tumor	BEFREE	28780469, 31202174		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	22753409, 30654593		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	33405952	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	29221793		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Migraine Disorders	Migraine	BEFREE	28430869, 28647288, 29244233		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	36647737	Associate	★☆☆☆☆ Found in Text Mining only
MOHR-TRANEBJAERG SYNDROME	MOHR-TRANEBJAERG SYNDROME	BEFREE	28780469		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	27076682		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	29744875		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	22753409, 30459312, 31737105		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29066951		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30077007, 30385873		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	34796785	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	36469255	Associate	★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	Pubtator	37486637	Associate	★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	25112874		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	30111857	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	35682601	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	30459312		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	33564071	Inhibit	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	26223428		★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	28036289	Associate	★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30014232, 30581532, 30655582		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28332205		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	36833374	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	29520031, 34135208	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	28634441		★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	29293171		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	22426419, 23594276		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	32023876, 35315432	Associate	★☆☆☆☆ Found in Text Mining only