CLDN2 (claudin 2)

Gene

• Entrez ID: 9075
• Gene name: Claudin 2
• Gene symbol: CLDN2
• Synonyms (NCBI Gene): OAZON, claudin-2
• Chromosome: X
• Chromosome location: Xq22.3
• Summary: This gene product belongs to the claudin protein family whose members have been identified as major integral membrane proteins localized exclusively at tight junctions. Claudins are expressed in an organ-specific manner and regulate tissue-specific physio

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1555979575	G>C	Pathogenic	Missense variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT895288	hsa-miR-1292	CLIP-seq
MIRT895289	hsa-miR-1343	CLIP-seq
MIRT895290	hsa-miR-182	CLIP-seq
MIRT895291	hsa-miR-1827	CLIP-seq
MIRT895292	hsa-miR-2682	CLIP-seq
MIRT895293	hsa-miR-3189-3p	CLIP-seq
MIRT895294	hsa-miR-362-5p	CLIP-seq
MIRT895295	hsa-miR-4272	CLIP-seq
MIRT895296	hsa-miR-4303	CLIP-seq
MIRT895297	hsa-miR-4326	CLIP-seq
MIRT895298	hsa-miR-4471	CLIP-seq
MIRT895299	hsa-miR-449c	CLIP-seq
MIRT895300	hsa-miR-4646-5p	CLIP-seq
MIRT895301	hsa-miR-4649-3p	CLIP-seq
MIRT895302	hsa-miR-500b	CLIP-seq
MIRT895303	hsa-miR-515-5p	CLIP-seq
MIRT895304	hsa-miR-532-3p	CLIP-seq
MIRT895305	hsa-miR-122	CLIP-seq
MIRT895306	hsa-miR-1321	CLIP-seq
MIRT895307	hsa-miR-3124-3p	CLIP-seq
MIRT895308	hsa-miR-3692	CLIP-seq
MIRT895309	hsa-miR-4419a	CLIP-seq
MIRT895310	hsa-miR-4510	CLIP-seq
MIRT895311	hsa-miR-4534	CLIP-seq
MIRT895312	hsa-miR-4728-5p	CLIP-seq
MIRT895313	hsa-miR-4739	CLIP-seq
MIRT895314	hsa-miR-4756-5p	CLIP-seq
MIRT895315	hsa-miR-4778-3p	CLIP-seq
MIRT895316	hsa-miR-1206	CLIP-seq
MIRT895317	hsa-miR-1207-5p	CLIP-seq
MIRT895318	hsa-miR-1275	CLIP-seq
MIRT895319	hsa-miR-15a	CLIP-seq
MIRT895320	hsa-miR-15b	CLIP-seq
MIRT895321	hsa-miR-16	CLIP-seq
MIRT895322	hsa-miR-1909	CLIP-seq
MIRT895323	hsa-miR-195	CLIP-seq
MIRT895324	hsa-miR-3915	CLIP-seq
MIRT895325	hsa-miR-3928	CLIP-seq
MIRT895326	hsa-miR-424	CLIP-seq
MIRT895327	hsa-miR-4277	CLIP-seq
MIRT895328	hsa-miR-4436b-3p	CLIP-seq
MIRT895329	hsa-miR-4474-5p	CLIP-seq
MIRT895330	hsa-miR-4525	CLIP-seq
MIRT895331	hsa-miR-4665-5p	CLIP-seq
MIRT895332	hsa-miR-4667-5p	CLIP-seq
MIRT895333	hsa-miR-4685-5p	CLIP-seq
MIRT895334	hsa-miR-4700-5p	CLIP-seq
MIRT895335	hsa-miR-4710	CLIP-seq
MIRT895336	hsa-miR-4719	CLIP-seq
MIRT895337	hsa-miR-4723-5p	CLIP-seq
MIRT895338	hsa-miR-4761-3p	CLIP-seq
MIRT895339	hsa-miR-4761-5p	CLIP-seq
MIRT895340	hsa-miR-4763-3p	CLIP-seq
MIRT895341	hsa-miR-4797-5p	CLIP-seq
MIRT895342	hsa-miR-497	CLIP-seq
MIRT895343	hsa-miR-625	CLIP-seq
MIRT895344	hsa-miR-637	CLIP-seq
MIRT895345	hsa-miR-939	CLIP-seq
MIRT895288	hsa-miR-1292	CLIP-seq
MIRT895289	hsa-miR-1343	CLIP-seq
MIRT1965479	hsa-miR-3622b-5p	CLIP-seq
MIRT895298	hsa-miR-4471	CLIP-seq
MIRT895300	hsa-miR-4646-5p	CLIP-seq
MIRT1965480	hsa-miR-4654	CLIP-seq
MIRT1965481	hsa-miR-4697-3p	CLIP-seq
MIRT1965482	hsa-miR-4704-3p	CLIP-seq
MIRT1965483	hsa-miR-4720-5p	CLIP-seq
MIRT1965484	hsa-miR-4769-5p	CLIP-seq
MIRT1965485	hsa-miR-4799-3p	CLIP-seq
MIRT895303	hsa-miR-515-5p	CLIP-seq
MIRT895304	hsa-miR-532-3p	CLIP-seq
MIRT1965486	hsa-miR-570	CLIP-seq
MIRT895316	hsa-miR-1206	CLIP-seq
MIRT2201423	hsa-miR-1245	CLIP-seq
MIRT2201424	hsa-miR-3156-3p	CLIP-seq
MIRT2201425	hsa-miR-383	CLIP-seq
MIRT2201426	hsa-miR-3919	CLIP-seq
MIRT895327	hsa-miR-4277	CLIP-seq
MIRT2201427	hsa-miR-4301	CLIP-seq
MIRT895333	hsa-miR-4685-5p	CLIP-seq
MIRT2201428	hsa-miR-4756-3p	CLIP-seq
MIRT2201429	hsa-miR-4765	CLIP-seq
MIRT2201430	hsa-miR-4772-5p	CLIP-seq
MIRT2201431	hsa-miR-483-3p	CLIP-seq
MIRT2201432	hsa-miR-508-5p	CLIP-seq
MIRT895304	hsa-miR-532-3p	CLIP-seq
MIRT2201423	hsa-miR-1245	CLIP-seq
MIRT2386147	hsa-miR-1289	CLIP-seq
MIRT895288	hsa-miR-1292	CLIP-seq
MIRT895289	hsa-miR-1343	CLIP-seq
MIRT2386148	hsa-miR-1915	CLIP-seq
MIRT2386149	hsa-miR-3198	CLIP-seq
MIRT2201425	hsa-miR-383	CLIP-seq
MIRT2201426	hsa-miR-3919	CLIP-seq
MIRT2386150	hsa-miR-4294	CLIP-seq
MIRT2386151	hsa-miR-4309	CLIP-seq
MIRT895298	hsa-miR-4471	CLIP-seq
MIRT895311	hsa-miR-4534	CLIP-seq
MIRT895300	hsa-miR-4646-5p	CLIP-seq
MIRT2386152	hsa-miR-4726-3p	CLIP-seq
MIRT2201428	hsa-miR-4756-3p	CLIP-seq
MIRT2201429	hsa-miR-4765	CLIP-seq
MIRT2201430	hsa-miR-4772-5p	CLIP-seq
MIRT895303	hsa-miR-515-5p	CLIP-seq
MIRT895304	hsa-miR-532-3p	CLIP-seq
MIRT2201423	hsa-miR-1245	CLIP-seq
MIRT2436265	hsa-miR-1252	CLIP-seq
MIRT2201425	hsa-miR-383	CLIP-seq
MIRT2201426	hsa-miR-3919	CLIP-seq
MIRT2201428	hsa-miR-4756-3p	CLIP-seq
MIRT2201429	hsa-miR-4765	CLIP-seq
MIRT2201430	hsa-miR-4772-5p	CLIP-seq
MIRT2447148	hsa-miR-27a	CLIP-seq
MIRT2447149	hsa-miR-27b	CLIP-seq
MIRT2447150	hsa-miR-4691-3p	CLIP-seq
MIRT2447151	hsa-miR-5096	CLIP-seq
MIRT2447152	hsa-miR-513a-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CTNNB1	Activation	14751232
LEF1	Activation	14751232
PPARG	Unknown	16688762

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002227	Process	Innate immune response in mucosa	IEA
GO:0002227	Process	Innate immune response in mucosa	ISS
GO:0005198	Function	Structural molecule activity	IEA
GO:0005515	Function	Protein binding	IPI	25323998, 25416956, 32296183, 34964704, 36008380, 37460613
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005911	Component	Cell-cell junction	IDA	21415414
GO:0005923	Component	Bicellular tight junction	IBA
GO:0005923	Component	Bicellular tight junction	IEA
GO:0005923	Component	Bicellular tight junction	ISS
GO:0016020	Component	Membrane	IEA
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	IBA
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	IEA
GO:0016338	Process	Calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules	ISS
GO:0030054	Component	Cell junction	IDA
GO:0042802	Function	Identical protein binding	IDA	36008380
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	ISS
GO:0070160	Component	Tight junction	IDA	20460438
GO:0070160	Component	Tight junction	IEA
GO:0070161	Component	Anchoring junction	IEA
GO:0070830	Process	Bicellular tight junction assembly	IBA
GO:0098609	Process	Cell-cell adhesion	IEA
GO:0098609	Process	Cell-cell adhesion	ISS
GO:0120188	Process	Regulation of bile acid secretion	IEA
GO:0120188	Process	Regulation of bile acid secretion	ISS
GO:0160184	Process	Paracellular transport	IDA	20460438, 36008380
GO:0160184	Process	Paracellular transport	IEA
GO:0160187	Function	Paracellular tight junction channel activity	IDA	20460438, 36008380
GO:0160187	Function	Paracellular tight junction channel activity	IEA
GO:1903985	Process	Regulation of intestinal D-glucose absorption	IEA
GO:1903985	Process	Regulation of intestinal D-glucose absorption	ISS
GO:1904729	Process	Regulation of intestinal lipid absorption	IEA
GO:1904729	Process	Regulation of intestinal lipid absorption	ISS

Other IDs

• MIM: 300520
• HGNC: 2041
• e!Ensembl: ENSG00000165376

Protein

• UniProt ID: P57739
• Protein name: Claudin-2 (SP82)
• Protein function: Forms paracellular channels: polymerizes in tight junction strands with cation- and water-selective channels through the strands, conveying epithelial permeability in a process known as paracellular tight junction permeability (PubMed:20460438,
• PDB: 4YYX
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00822	PMP22_Claudin	4 → 181	PMP-22/EMP/MP20/Claudin family	Family

• Sequence:

  MASLGLQLVGYILGLLGLLGTLVAMLLPSWKTSSYVGASIVTAVGFSKGLWMECATHSTG
  ITQCDIYSTLLGLPADIQAAQAMMVTSSAISSLACIISVVGMRCTVFCQESRAKDRVAVA
  GGVFFILGGLLGFIPVAWNLHGILRDFYSPLVPDSMKFEIGEALYLGIISSLFSLIAGII
  LCFSCSSQRNRSNYYDAYQAQPLATRSSPRPGQPPKVKSEFNSYSLTGYV

• Sequence length: 230

Pathways

KEGG:

Virion - Hepatitis viruses
Cell adhesion molecules
Tight junction
Leukocyte transendothelial migration
Pathogenic Escherichia coli infection
Hepatitis C

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
Azoospermia, obstructive, with nephrolithiasis	Pathogenic	rs1555979575	RCV001352895	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Male infertility	Pathogenic	rs1555979575	RCV000677244	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
PANCREATITIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute pancreatitis	Pancreatitis	BEFREE	29884332, 31163246		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	16797678, 17418912, 17429687, 21315735, 28057758		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	17418912, 18500171		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	28212604		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	22546605, 26061016, 28057758, 28608828, 29247669, 29597147		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	18711353		★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	29152115		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	27957319	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	28212604		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	28212604, 34795059	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Neoplasms	Biliary tract neoplasms	Pubtator	18854598	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17314274, 18479414, 21076473, 22645303, 24287398, 25823815, 30692208		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24287398, 30692208	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	33714203	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	36961882	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16328347		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23651211, 24278187	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28754672		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	24294371, 28212604	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Endometrioid	Endometrioid cancer	BEFREE	16797678		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	27446827, 31605016		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	31605016	Stimulate	★☆☆☆☆ Found in Text Mining only
Cholecystitis	Cholecystitis	LHGDN	17283368		★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	25068494		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	25068494		★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	25068494		★☆☆☆☆ Found in Text Mining only
Chronic interstitial cystitis	Interstitial Cystitis	BEFREE	31314637		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	23303670, 28073341, 29680209, 30269272, 31542404		★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	31918598	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	32164249	Stimulate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	21383692, 23505542, 29152115		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	16328347, 17970035, 21383692, 25823815, 29134439, 29152115, 29510994, 30207785		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	16328347		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17970035, 29134439	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	29510994		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34965023	Stimulate	★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common Variable Immunodeficiency	BEFREE	31605016		★☆☆☆☆ Found in Text Mining only
Common Variable Immunodeficiency	Common variable immunodeficiency	Pubtator	31605016	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	16822808, 39201543	Associate	★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	21688348, 23946598		★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	29091813		★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	28082316, 31605016	Associate	★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal dysplasia	Pubtator	37621953	Associate	★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia verruciformis	Pubtator	32518268	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	28212604		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	28212604	Associate	★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	28212604		★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	29448044		★☆☆☆☆ Found in Text Mining only
Frontotemporal dementia	Frontotemporal dementia	BEFREE	31447625		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	22994974	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	31605016	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	31605016		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	16647953		★☆☆☆☆ Found in Text Mining only
Ichthyosis Bullosa of Siemens	Ichthyosis Bullosa Of Siemens	BEFREE	28082316		★☆☆☆☆ Found in Text Mining only
Ichthyosis Bullosa of Siemens	Junctional epidermolysis bullosa	Pubtator	28082316	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	18955738, 32001212	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	18711353		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	18711353, 35653895	Stimulate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	20177070, 21383692, 23505542, 23946598, 24670427, 28928120, 30289450, 31605016		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	23946598, 31605016	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	36364889	Inhibit	★☆☆☆☆ Found in Text Mining only
Interstitial Cystitis	Interstitial Cystitis	BEFREE	31314637		★☆☆☆☆ Found in Text Mining only
Intestinal Diseases	Intestinal disease	Pubtator	28804910	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable bowel syndrome	Pubtator	27869798	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	28082316		★☆☆☆☆ Found in Text Mining only
Kaposi Sarcoma	Kaposi Sarcoma	BEFREE	24995964		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	24287398, 30692208	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26163137, 37488117	Associate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	27904960		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndromes	Malabsorption syndrome	Pubtator	31605016	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17314274, 21076473, 22645303, 24287398, 25823815, 30692208		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	16328347		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	28754672		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	16328347		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17970035, 28608828, 29448044, 29510994, 30692208, 31726679		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	21383692, 23505542, 29152115		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17314274		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	28968647		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	16505274	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29402318		★☆☆☆☆ Found in Text Mining only
Necrotizing Enterocolitis	Necrotizing Enterocolitis	BEFREE	30899070		★☆☆☆☆ Found in Text Mining only
Necrotizing enterocolitis in fetus OR newborn	Necrotizing Enterocolitis	BEFREE	23470164, 30899070, 31499514		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18479414, 21383692, 22645303, 22824143, 23385421, 24287398, 24995964, 28968647		★☆☆☆☆ Found in Text Mining only
Nephritis	Nephritis	BEFREE	31086291		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	31086291		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22824143		★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	BEFREE	31320686		★☆☆☆☆ Found in Text Mining only
Obstructive azoospermia	Obstructive azoospermia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30349422		★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	29291615		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	23143602, 31163246		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	CTD_human_DG	23143602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	GWASDB_DG	23143602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis	Pancreatitis	Pubtator	23143602	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatitis Chronic	Pancreatitis	Pubtator	26820620, 28754779	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Acute Necrotizing	Necrotizing pancreatitis	BEFREE	31139836		★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	25253127, 26820620, 29884332		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	28428333		★☆☆☆☆ Found in Text Mining only
Progressive hearing loss stapes fixation	Hearing loss with stapes fixation	Pubtator	23143602	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	26087186	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	Pubtator	18955738	Associate	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	24294371	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17418912, 27687058, 28212604		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	17418912		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	23856835, 36232536	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29901188		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	32630408	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	23919729, 31959204	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19120888, 21308881, 27598247, 29234405, 30638599		★☆☆☆☆ Found in Text Mining only