MUC5B (mucin 5B, oligomeric mucus/gel-forming)

Gene

• Entrez ID: 727897
• Gene name: Mucin 5B, oligomeric mucus/gel-forming
• Gene symbol: MUC5B
• Synonyms (NCBI Gene): MG1, MUC-5B, MUC5, MUC9
• Chromosome: 11
• Chromosome location: 11p15.5
• Summary: This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelas

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017724	hsa-miR-335-5p	Microarray	18185580
MIRT1166372	hsa-miR-370	CLIP-seq
MIRT1166373	hsa-miR-3936	CLIP-seq
MIRT1166374	hsa-miR-4749-3p	CLIP-seq
MIRT1166375	hsa-miR-615-5p	CLIP-seq
MIRT2048053	hsa-miR-103a	CLIP-seq
MIRT2048054	hsa-miR-107	CLIP-seq
MIRT2048055	hsa-miR-10a	CLIP-seq
MIRT2048056	hsa-miR-10b	CLIP-seq
MIRT2048057	hsa-miR-1184	CLIP-seq
MIRT2048058	hsa-miR-1324	CLIP-seq
MIRT2048059	hsa-miR-1343	CLIP-seq
MIRT2048060	hsa-miR-149	CLIP-seq
MIRT2048061	hsa-miR-214	CLIP-seq
MIRT2048062	hsa-miR-3619-5p	CLIP-seq
MIRT2048063	hsa-miR-3622b-5p	CLIP-seq
MIRT2048064	hsa-miR-383	CLIP-seq
MIRT2048065	hsa-miR-3913-3p	CLIP-seq
MIRT2048066	hsa-miR-3937	CLIP-seq
MIRT2048067	hsa-miR-4520a-3p	CLIP-seq
MIRT2048068	hsa-miR-4690-5p	CLIP-seq
MIRT2048069	hsa-miR-4772-5p	CLIP-seq
MIRT2048070	hsa-miR-4793-5p	CLIP-seq
MIRT2048071	hsa-miR-489	CLIP-seq
MIRT2048072	hsa-miR-516a-3p	CLIP-seq
MIRT2048073	hsa-miR-761	CLIP-seq
MIRT2048074	hsa-miR-885-3p	CLIP-seq
MIRT2276797	hsa-miR-2277-5p	CLIP-seq
MIRT2276798	hsa-miR-4479	CLIP-seq
MIRT2276799	hsa-miR-4767	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
NFKB1	Unknown	20935193
RELA	Unknown	20935193
STAT3	Unknown	15485908

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	IBA
GO:0005515	Function	Protein binding	IPI	1718282, 12787366
GO:0005576	Component	Extracellular region	IEA
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005796	Component	Golgi lumen	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0031012	Component	Extracellular matrix	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145

Other IDs

• MIM: 600770
• HGNC: 7516
• e!Ensembl: ENSG00000117983

Protein

• UniProt ID: Q9HC84
• Protein name: Mucin-5B (MUC-5B) (Cervical mucin) (High molecular weight salivary mucin MG1) (Mucin-5 subtype B, tracheobronchial) (Sublingual gland mucin)
• Protein function: Gel-forming mucin that is thought to contribute to the lubricating and viscoelastic properties of whole saliva and cervical mucus.
• PDB: 8OES
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00094	VWD	77 → 224	von Willebrand factor type D domain	Family
  PF08742	C8	261 → 325	C8 domain	Domain
  PF01826	TIL	329 → 385	Trypsin Inhibitor like cysteine rich domain	Domain
  PF00094	VWD	425 → 579	von Willebrand factor type D domain	Family
  PF08742	C8	621 → 688	C8 domain	Domain
  PF01826	TIL	695 → 752	Trypsin Inhibitor like cysteine rich domain	Domain
  PF00094	VWD	895 → 1043	von Willebrand factor type D domain	Family
  PF08742	C8	1084 → 1151	C8 domain	Domain
  PF13330	Mucin2_WxxW	1340 → 1426	Mucin-2 protein WxxW repeating region	Family
  PF13330	Mucin2_WxxW	1509 → 1597	Mucin-2 protein WxxW repeating region	Family
  PF13330	Mucin2_WxxW	1790 → 1878	Mucin-2 protein WxxW repeating region	Family
  PF13330	Mucin2_WxxW	2320 → 2408	Mucin-2 protein WxxW repeating region	Family
  PF13330	Mucin2_WxxW	2877 → 2965	Mucin-2 protein WxxW repeating region	Family
  PF13330	Mucin2_WxxW	3577 → 3665	Mucin-2 protein WxxW repeating region	Family
  PF13330	Mucin2_WxxW	4134 → 4222	Mucin-2 protein WxxW repeating region	Family
  PF00094	VWD	5075 → 5238	von Willebrand factor type D domain	Family
  PF08742	C8	5290 → 5355	C8 domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed on surface airway epithelia. Expressed mainly in mucous cells of submucosal glands of airway tissues. Highly expressed in the sublingual gland. Also found in submaxillary glands, endocervix, gall bladder, and pancreas. {ECO:0
• Sequence:

  MGAPSACRTLVLALAAMLVVPQAETQGPVEPSWENAGHTMDGGAPTSSPTRRVSFVPPVT
  VFPSLSPLNPAHNGRVCSTWGDFHYKTFDGDVFRFPGLCNYVFSEHCRAAYEDFNVQLRR
  GLVGSRPVVTRVVIKAQGLVLEASNGSVLINGQREELPYSRTGLLVEQSGDYIKVSIRLV
  LTFLWNGEDSALLELDPKYANQTCGLCGDFNGLPAFNEFYAHNARLTPLQFGNLQKLDGP
  TEQCPDPLPLPAGNCTDEEGICHRTLLGPAFAECHALVDSTAYLAACAQDLCRCPTCPCA
  TFVEYSRQCAHAGGQPRNWRCPELCPRTCPLNMQHQECGSPCTDTCSNPQRAQLCEDHCV
  DGCFCPPGTVLDDITHSGCLPLGQCPCTHGGRTYSPGTSFNTTCSSCTCSGGLWQCQDLP
  CPGTCSVQGGAHISTYDEKLYDLHGDCSYVLSKKCADSSFTVLAELRKCGLTDNENCLKA
  VTLSLDGGDTAIRVQADGGVFLNSIYTQLPLSAANITLFTPSSFFIVVQTGLGLQLLVQL
  VPLMQVFVRLDPAHQGQMCGLCGNFNQNQADDFTALSGVVEATGAAFANTWKAQAACANA
  RNSFEDPCSLSVENENYARHWCSRLTDPNSAFSRCHSIINPKPFHSNCMFDTCNCERSED
  CLCAALSSYVHACAAKGVQLSDWRDGVCTKYMQNCPKSQRYAYVVDACQPTCRGLSEADV
  TCSVSFVPVDGCTCPAGTFLNDAGACVPAQECPCYAHGTVLAPGEVVHDEGAVCSCTGGK
  LSCLGASLQKSTGCAAPMVYLDCSNSSAGTPGAECLRSCHTLDVGCFSTHCVSGCVCPPG
  LVSDGSGGCIAEEDCPCVHNEATYKPGETIRVDCNTCTCRNRRWECSHRLCLGTCVAYGD
  GHFITFDGDRYSFEGSCEYILAQDYCGDNTTHGTFRIVTENIPCGTTGTTCSKAIKLFVE
  SYELILQEGTFKAVARGPGGDPPYKIRYMGIFLVIETHGMAVSWDRKTSVFIRLHQDYKG
  RVCGLCGNFDDNAINDFATRSRSVVGDALEFGNSWKLSPSCPDALAPKDPCTANPFRKSW
  AQKQCSILHGPTFAACRSQVDSTKYYEACVNDACACDSGGDCECFCTAVAAYAQACHDAG
  LCVSWRTPDTCPLFCDFYNPHGGCEWHYQPCGAPCLKTCRNPSGHCLVDLPGLEGCYPKC
  PPSQPFFNEDQMKCVAQCGCYDKDGNYYDVGARVPTAENCQSCNCTPSGIQCAHSLEACT
  CTYEDRTYSYQDVIYNTTDGLGACLIAICGSNGTIIRKAVACPGTPATTPFTFTTAWVPH
  STTSPALPVSTVCVREVCRWSSWYNGHRPEPGLGGGDFETFENLRQRGYQVCPVLADIEC
  RAAQLPDMPLEELGQQVDCDRMRGLMCANSQQSPPLCHDYELRVLCCEYVPCGPSPAPGT
  SPQPSLSASTEPAVPTPTQTTATEKTTLWVTPSIRSTAALTSQTGSSSGPVTVTPSAPGT
  TTCQPRCQWTEWFDEDYPKSEQLGGDVESYDKIRAAGGHLCQQPKDIECQAESFPNWTLA
  QVGQKVHCDVHFGLVCRNWEQEGVFKMCYNYRIRVLCCSDDHCRGRATTPPPTTELETAT
  TTTTQALFSTPQPTSSPGLTRAPPASTTAVPTLSEGLTSPRYTSTLGTATTGGPTTPAGS
  TEPTVPGVATSTLPTRSALPGTTGSLGTWRPSQPPTLAPTTMATSRARPTGTASTASKEP
  LTTSLAPTLTSELSTSQAETSTPRTETTMSPLTNTTTSQGTTRCQPKCEWTEWFDVDFPT
  SGVAGGDMETFENIRAAGGKMCWAPKSIECRAENYPEVSIDQVGQVLTCSLETGLTCKNE
  DQTGRFNMCFNYNVRVLCCDDYSHCPSTPATSSTATPSSTPGTTWILTKPTTTATTTAST
  GSTATPTSTLRTAPPPKVLTTTATTPTVTSSKATPSSSPGTATALPALRSTATTPTATSV
  TPIPSSSLGTTWTRLSQTTTPTATMSTATPSSTPETAHTSTVLTATATTTGATGSVATPS
  STPGTAHTTKVPTTTTTGFTATPSSSPGTALTPPVWISTTTTPTTRGSTVTPSSIPGTTH
  TATVLTTTTTTVATGSMATPSSSTQTSGTPPSLTTTATTITATGSTTNPSSTPGTTPIPP
  VLTTTATTPAATSNTVTPSSALGTTHTPPVPNTMATTHGRSLPPSSPHTVRTAWTSATSG
  ILGTTHITEPSTVTSHTLAATTGTTQHSTPALSSPHPSSRTTESPPSPGTTTPGHTTATS
  RTTATATPSKTRTSTLLPSSPTSAPITTVVTMGCEPQCAWSEWLDYSYPMPGPSGGDFDT
  YSNIRAAGGAVCEQPLGLECRAQAQPGVPLRELGQVVECSLDFGLVCRNREQVGKFKMCF
  NYEIRVFCCNYGHCPSTPATSSTAMPSSTPGTTWILTELTTTATTTESTGSTATPSSTPG
  TTWILTEPSTTATVTVPTGSTATASSTQATAGTPHVSTTATTPTVTSSKATPFSSPGTAT
  ALPALRSTATTPTATSFTAIPSSSLGTTWTRLSQTTTPTATMSTATPSSTPETVHTSTVL
  TTTATTTGATGSVATPSSTPGTAHTTKVLTTTTTGFTATPSSSPGTARTLPVWISTTTTP
  TTRGSTVTPSSIPGTTHTPTVLTTTTTTVATGSMATPSSSTQTSGTPPSLTTTATTITAT
  GSTTNPSSTPGTTPIPPVLTTTATTPAATSSTVTPSSALGTTHTPPVPNTTATTHGRSLS
  PSSPHTVRTAWTSATSGTLGTTHITEPSTGTSHTPAATTGTTQHSTPALSSPHPSSRTTE
  SPPSPGTTTPGHTRATSRTTATATPSKTRTSTLLPSSPTSAPITTVVTMGCEPQCAWSEW
  LDYSYPMPGPSGGDFDTYSNIRAAGGAVCEQPLGLECRAQAQPGVPLRELGQVVECSLDF
  GLVCRNREQVGKFKMCFNYEIRVFCCNYGHCPSTPATSSTATPSSTPGTTWILTEQTTAA
  TTTATTGSTAIPSSTPGTAPPPKVLTSTATTPTATSSKATSSSSPRTATTLPVLTSTATK
  STATSFTPIPSFTLGTTGTLPEQTTTPMATMSTIHPSSTPETTHTSTVLTTKATTTRATS
  SMSTPSSTPGTTWILTELTTAATTTAATGPTATPSSTPGTTWILTEPSTTATVTVPTGST
  ATASSTRATAGTLKVLTSTATTPTVISSRATPSSSPGTATALPALRSTATTPTATSVTAI
  PSSSLGTAWTRLSQTTTPTATMSTATPSSTPETVHTSTVLTTTTTTTRATGSVATPSSTP
  GTAHTTKVPTTTTTGFTATPSSSPGTALTPPVWISTTTTPTTRGSTVTPSSIPGTTHTAT
  VLTTTTTTVATGSMATPSSSTQTSGTPPSLTTTATTITATGSTTNPSSTPGTTPIPPVLT
  TTATTPAATSSTVTPSSALGTTHTPPVPNTTATTHGRSLPPSSPHTVRTAWTSATSGILG
  TTHITEPSTVTSHTPAATTSTTQHSTPALSSPHPSSRTTESPPSPGTTTPGHTRGTSRTT
  ATATPSKTRTSTLLPSSPTSAPITTVVTTGCEPQCAWSEWLDYSYPMPGPSGGDFDTYSN
  IRAAGGAVCEQPLGLECRAQAQPGVPLRELGQVVECSLDFGLVCRNREQVGKFKMCFNYE
  IRVFCCNYGHCPSTPATSSTATPSSTPGTTWILTKLTTTATTTESTGSTATPSSTPGTTW
  ILTEPSTTATVTVPTGSTATASSTQATAGTPHVSTTATTPTVTSSKATPFSSPGTATALP
  ALRSTATTPTATSFTAIPSSSLGTTWTRLSQTTTPTATMSTATPSSTPETAHTSTVLTTT
  ATTTRATGSVATPSSTPGTAHTTKVPTTTTTGFTVTPSSSPGTARTPPVWISTTTTPTTS
  GSTVTPSSVPGTTHTPTVLTTTTTTVATGSMATPSSSTQTSGTPPSLITTATTITATGST
  TNPSSTPGTTPIPPVLTTTATTPAATSSTVTPSSALGTTHTPPVPNTTATTHGRSLSPSS
  PHTVRTAWTSATSGTLGTTHITEPSTGTSHTPAATTGTTQHSTPALSSPHPSSRTTESPP
  SPGTTTPGHTTATSRTTATATPSKTRTSTLLPSSPTSAPITTVVTTGCEPQCAWSEWLDY
  SYPMPGPSGGDFDTYSNIRAAGGAVCEQPLGLECRAQAQPGVPLGELGQVVECSLDFGLV
  CRNREQVGKFKMCFNYEIRVFCCNYGHCPSTPATSSTAMPSSTPGTTWILTELTTTATTT
  ASTGSTATPSSTPGTAPPPKVLTSPATTPTATSSKATSSSSPRTATTLPVLTSTATKSTA
  TSVTPIPSSTLGTTGTLPEQTTTPVATMSTIHPSSTPETTHTSTVLTTKATTTRATSSTS
  TPSSTPGTTWILTELTTAATTTAATGPTATPSSTPGTTWILTELTTTATTTASTGSTATP
  SSTPGTTWILTEPSTTATVTVPTGSTATASSTQATAGTPHVSTTATTPTVTSSKATPSSS
  PGTATALPALRSTATTPTATSFTAIPSSSLGTTWTRLSQTTTPTATMSTATPSSTPETVH
  TSTVLTATATTTGATGSVATPSSTPGTAHTTKVPTTTTTGFTATPSSSPGTALTPPVWIS
  TTTTPTTTTPTTSGSTVTPSSIPGTTHTARVLTTTTTTVATGSMATPSSSTQTSGTPPSL
  TTTATTITATGSTTNPSSTPGTTPITPVLTSTATTPAATSSKATSSSSPRTATTLPVLTS
  TATKSTATSFTPIPSSTLWTTWTVPAQTTTPMSTMSTIHTSSTPETTHTSTVLTTTATMT
  RATNSTATPSSTLGTTRILTELTTTATTTAATGSTATLSSTPGTTWILTEPSTIATVMVP
  TGSTATASSTLGTAHTPKVVTTMATMPTATASTVPSSSTVGTTRTPAVLPSSLPTFSVST
  VSSSVLTTLRPTGFPSSHFSTPCFCRAFGQFFSPGEVIYNKTDRAGCHFYAVCNQHCDID
  RFQGACPTSPPPVSSAPLSSPSPAPGCDNAIPLRQVNETWTLENCTVARCVGDNRVVLLD
  PKPVANVTCVNKHLPIKVSDPSQPCDFHYECECICSMWGGSHYSTFDGTSYTFRGNCTYV
  LMREIHARFGNLSLYLDNHYCTASATAAAARCPRALSIHYKSMDIVLTVTMVHGKEEGLI
  LFDQIPVSSGFSKNGVLVSVLGTTTMRVDIPALGVSVTFNGQVFQARLPYSLFHNNTEGQ
  CGTCTNNQRDDCLQRDGTTAASCKDMAKTWLVPDSRKDGCWAPTGTPPTASPAAPVSSTP
  TPTPCPPQPLCDLMLSQVFAECHNLVPPGPFFNACISDHCRGRLEVPCQSLEAYAELCRA
  RGVCSDWRGATGGLCDLTCPPTKVYKPCGPIQPATCNSRNQSPQLEGMAEGCFCPEDQIL
  FNAHMGICVQACPCVGPDGFPKFPGERWVSNCQSCVCDEGSVSVQCKPLPCDAQGQPPPC
  NRPGFVTVTRPRAENPCCPETVCVCNTTTCPQSLPVCPPGQESICTQEEGDCCPTFRCRP
  QLCSYNGTFYGVGATFPGALPCHMCTCLSGDTQDPTVQCQEDACNNTTCPQGFEYKRVAG
  QCCGECVQTACLTPDGQPVQLNETWVNSHVDNCTVYLCEAEGGVHLLTPQPASCPDVSSC
  RGSLRKTGCCYSCEEDSCQVRINTTILWHQGCETEVNITFCEGSCPGASKYSAEAQAMQH
  QCTCCQERRVHEETVPLHCPNGSAILHTYTHVDECGCTPFCVPAPMAPPHTRGFPAQEAT
  AV

• Sequence length: 5762

Pathways

KEGG:

IL-17 signaling pathway
Salivary secretion

Reactome:

Defective GALNT3 causes familial hyperphosphatemic tumoral calcinosis (HFTC)
Defective C1GALT1C1 causes Tn polyagglutination syndrome (TNPS)
Defective GALNT12 causes colorectal cancer 1 (CRCS1)
Dectin-2 family
O-linked glycosylation of mucins
Termination of O-glycan biosynthesis

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
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANORECTAL MALFORMATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Antisynthetase syndrome	Benign; risk factor	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BRONCHIOLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign; Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIFFUSE PANBRONCHIOLITIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EXTRINSIC ALLERGIC ALVEOLITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet CTD, Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INTERSTITIAL LUNG DISEASE	—	GWAS catalog, GenCC GWAS catalog, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Interstitial lung disease 2	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign; risk factor	ClinVar ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MUC5B-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY FIBROSIS	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary fibrosis, idiopathic, susceptibility to	Benign; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Susceptibility to coronavirus disease (COVID-19) severity and mortality due to low plasma levels of MUC5B	Benign; risk factor	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute otitis media	Otitis media	BEFREE	28027286		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11578957, 25733373, 29267283		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	7946402		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	31436131		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	21126317, 29670111		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	17676483		★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	28648751, 32602730, 34996848, 37445925, 38309995	Associate	★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	17998215		★☆☆☆☆ Found in Text Mining only
Anthracosis	Anthracosis	BEFREE	24924948		★☆☆☆☆ Found in Text Mining only
Anthracosis	Anterior uveitis	Pubtator	39969351	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	30345907, 30635297, 32142504, 33993221, 34344703, 34411838, 35289841, 36717188	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	28559967, 28716644, 29186064, 31570524		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	Pubtator	28716644, 31430856, 32460303, 36946148, 37146737, 37241840	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	18547287		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	31436131		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	19191526		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16012742, 16148312, 23056409, 26984395		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	BEFREE	31765597		★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	31765597	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	Pubtator	38016030	Stimulate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchioloalveolar Adenocarcinoma	Lung adenocarcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bronchitis Chronic	Bronchitis	Pubtator	37352370, 39769414	Associate	★☆☆☆☆ Found in Text Mining only
Burnett Schwartz Berberian syndrome	Burnett schwartz berberian syndrome	Pubtator	23527003, 36555528	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12077147	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	19191526		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1	Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome	BEFREE	28355261		★☆☆☆☆ Found in Text Mining only
Cholestasis, Extrahepatic	Cholestasis	BEFREE	9425917		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	BEFREE	29138803		★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	29138803	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	15140415, 15500651, 28877023, 31570524		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	LHGDN	18776153		★☆☆☆☆ Found in Text Mining only
Chronic otitis media	Otitis media	BEFREE	10764016, 11350794		★☆☆☆☆ Found in Text Mining only
Chronic rhinosinusitis with nasal polyps	Rhinosinusitis With Nasal Polyps	BEFREE	26399381, 29802623, 30508540		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	17621824		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	28506611	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	31826065	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	28693267, 29547645		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10840001, 22738698, 23807779, 29040430, 29547645, 33714943	Associate	★☆☆☆☆ Found in Text Mining only
Connective Tissue Diseases	Connective Tissue Disease	BEFREE	25926289		★☆☆☆☆ Found in Text Mining only
Craniosynostoses	Craniosynostosis	Pubtator	21502478	Associate	★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	17063754, 17621824		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	10028446		★☆☆☆☆ Found in Text Mining only
Cyst	Cyst	BEFREE	27630174, 30560893, 31309122		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	10567212, 11860173, 15194565, 16928707, 21502478, 26993521	Associate	★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	12297057, 14988081, 16630149, 17186573, 26993521, 28352653, 28607090, 29327941, 31524632, 31524633, 9651178, 9685530		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	28346466, 36733806	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	28346466		★☆☆☆☆ Found in Text Mining only
Diffuse panbronchiolitis	Diffuse Panbronchiolitis	BEFREE	15709052, 20946254		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse panbronchiolitis	Diffuse Panbronchiolitis	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diffuse panbronchiolitis	Diffuse Panbronchiolitis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dysequilibrium syndrome	Dysequilibrium syndrome	Pubtator	33526882	Associate	★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	19718741	Associate	★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	39769414	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	16188033	Stimulate	★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	29691386	Inhibit	★☆☆☆☆ Found in Text Mining only
Familial Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	23583980		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	30565710		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	21596555		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	10840001	Associate	★☆☆☆☆ Found in Text Mining only
Hamman-Rich Disease	Diffuse interstitial pulmonary fibrosis	CTD_human_DG	23583980		★☆☆☆☆ Found in Text Mining only
Hamman-Rich syndrome	Hamman-Rich syndrome	ORPHANET_DG	21506741, 21506748		★☆☆☆☆ Found in Text Mining only
Honeycomb lung	Honeycomb lung	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	21502478	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	35651878	Associate	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	18076704, 19200188		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21506741, 22781209, 23020878, 23321605, 23692170, 23695349, 23940607, 24434656, 24547893, 25121989, 25184687, 25192356, 25275363, 25581455, 25858779, 25926289, 26331942, 26512610, 26595739, 26699835, 26823827, 27630174, 28189065, 28272906, 28648751, 29066090, 29206633, 29408012, 29565179, 29891356, 30269188, 30345907, 30431344, 30526140, 30560893, 30952951, 30973754, 31309122, 31514468, 31653936		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	GENOMICS_ENGLAND_DG	21506741		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	ORPHANET_DG	21506741, 21506748		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	21506741, 23321605, 23527003, 23692170, 23695349, 24434656, 25121989, 25184687, 25192356, 25275363, 25317858, 25858779, 26331942, 26595739, 26823827, 26836909, 28066036, 28272906, 28648751, 28893869, 29066090, 29206633, 29891356, 30345907, 30635297, 30952951, 31034279, 31558622, 31653936, 31996780, 32142504, 32941426, 33076992, 33320836, 33432658, 33446833, 33639995, 33714028, 33794872, 34370624, 34411838, 34515605, 35608953, 35651878, 35816432, 36555528, 36635100, 37523715, 37777755, 37788444, 37978501, 40076835	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic pulmonary fibrosis	Pulmonary Fibrosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	23583980		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	17662091		★☆☆☆☆ Found in Text Mining only
Intestinal Cancer	Intestinal Cancer	BEFREE	28972071		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	28357490		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	14988081, 23321605, 25858779, 26823827, 29579396, 31570524		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	25858779, 37788444, 39769414	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases Interstitial	Lung disease	Pubtator	21506741, 23692170, 24434656, 25121989, 25192356, 25389906, 26836909, 27314401, 28893869, 30345907, 30635297, 31339356, 31996780, 32142504, 33076992, 33446609, 33526882, 34344703, 34411838, 35289841, 35583934, 35651878, 36155967, 36189284, 36690926, 36717188, 36733806, 36833253, 37523715	Associate	★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	GWASDB_DG	23583980		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	BEFREE	23692170, 23940607, 24434656, 25121989, 25192356, 25858779, 29170036, 29206633, 30345907, 30660786		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Obstructive	Lung Diseases	BEFREE	27435107		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	27777418		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	16012742, 16148312, 23056409, 23370770, 26984395		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	30565710		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	28972071		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19587537, 27230679		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	14760390		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	19191526		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	19587537, 23056409, 28972071, 8143972		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	10408841, 16148312		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere disease	Pubtator	28106268	Associate	★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	28628803		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	29206633		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	17621824, 28318118, 7946402		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	35712071	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16012742, 16148312, 23056409, 28693267, 28972071, 30306072, 8855970, 8980247		★☆☆☆☆ Found in Text Mining only
Neutrophilia (disorder)	Neutrophilia	BEFREE	30654796		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25733373, 26224019, 28189065, 8980247		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	LHGDN	14690056		★☆☆☆☆ Found in Text Mining only
Otitis Media	Otitis media	BEFREE	19718741		★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	BEFREE	11350794, 16540890, 28027286		★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	LHGDN	16540890		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19587537, 27230679		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	27230679	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	14760390		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	17200179, 34389698, 37352370, 37788444, 39769414	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	21506741, 23321605, 23695349, 24547893, 24924948, 26699835, 26836909, 27630174, 29440587, 29565179, 30269188, 30560893, 31261211, 31365378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	21506741, 22576636, 23692170, 23695349, 25275363, 26836909, 29440587, 31558622, 33526882, 33993221, 35482673, 35651878, 36690926	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Respiration Disorders	Respiration Disorders	BEFREE	20946254, 29579396		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	31699684		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	20946254		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	33526882, 36427316	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	30345907, 31261211, 31365378		★☆☆☆☆ Found in Text Mining only
Rhinitis Allergic	Rhinitis	Pubtator	34334005	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	BEFREE	23321605		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	36189284	Associate	★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	BEFREE	17063754		★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	LHGDN	17063754		★☆☆☆☆ Found in Text Mining only
Sjogren's Syndrome	Sjogren syndrome	Pubtator	35740863	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25733373		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	11278696		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	11278696, 19924550, 24935372	Associate	★☆☆☆☆ Found in Text Mining only
Surfactant Dysfunction	Pulmonary surfactant metabolism dysfunction	Pubtator	33526882	Associate	★☆☆☆☆ Found in Text Mining only
Syndactyly Type IV	Syndactyly	Pubtator	36690926	Associate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	22576636, 23321605, 23940607		★☆☆☆☆ Found in Text Mining only
Teratoma Ovarian	Ovarian teratoma	Pubtator	17479161	Associate	★☆☆☆☆ Found in Text Mining only
Turcot syndrome	Turcot syndrome	Pubtator	23370770	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	16924127		★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	29440393		★☆☆☆☆ Found in Text Mining only