HPGD (15-hydroxyprostaglandin dehydrogenase)

Gene

• Entrez ID: 3248
• Gene name: 15-hydroxyprostaglandin dehydrogenase
• Gene symbol: HPGD
• Synonyms (NCBI Gene): 15-PGDH, PGDH, PGDH1, PHOAR1, SDR36C1
• Chromosome: 4
• Chromosome location: 4q34.1
• Summary: This gene encodes a member of the short-chain nonmetalloenzyme alcohol dehydrogenase protein family. The encoded enzyme is responsible for the metabolism of prostaglandins, which function in a variety of physiologic and cellular processes such as inflamma

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434480	C>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs121434481	A>G	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant, intron variant
rs375335006	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant, intron variant, genic downstream transcript variant
rs587776676	GGTCTACAAC>TG	Pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant
rs587777719	AG>-	Pathogenic	Intron variant, frameshift variant, non coding transcript variant, coding sequence variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT053173	hsa-miR-21-5p	In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot	24699315
MIRT719015	hsa-miR-664a-3p	HITS-CLIP	19536157
MIRT719014	hsa-miR-4289	HITS-CLIP	19536157
MIRT719013	hsa-miR-486-5p	HITS-CLIP	19536157
MIRT719012	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT719011	hsa-miR-587	HITS-CLIP	19536157
MIRT719015	hsa-miR-664a-3p	HITS-CLIP	19536157
MIRT719014	hsa-miR-4289	HITS-CLIP	19536157
MIRT719013	hsa-miR-486-5p	HITS-CLIP	19536157
MIRT719012	hsa-miR-4742-3p	HITS-CLIP	19536157
MIRT719011	hsa-miR-587	HITS-CLIP	19536157
MIRT755926	hsa-miR-106b-5p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, in vitro cullelar assays, RNA pull down assay	35317779
MIRT1054125	hsa-miR-151-3p	CLIP-seq
MIRT1054126	hsa-miR-186	CLIP-seq
MIRT1054127	hsa-miR-216a	CLIP-seq
MIRT1054128	hsa-miR-3133	CLIP-seq
MIRT1054129	hsa-miR-3154	CLIP-seq
MIRT1054130	hsa-miR-3185	CLIP-seq
MIRT1054131	hsa-miR-342-3p	CLIP-seq
MIRT1054132	hsa-miR-3647-3p	CLIP-seq
MIRT1054133	hsa-miR-3662	CLIP-seq
MIRT1054134	hsa-miR-3688-3p	CLIP-seq
MIRT1054135	hsa-miR-3978	CLIP-seq
MIRT1054136	hsa-miR-4717-3p	CLIP-seq
MIRT1054137	hsa-miR-4802-3p	CLIP-seq
MIRT1054138	hsa-miR-502-5p	CLIP-seq
MIRT1054139	hsa-miR-548ag	CLIP-seq
MIRT1054140	hsa-miR-548ai	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREB1	Unknown	10650939
ERG	Unknown	21178489
ETS1	Unknown	10650939
NFIL3	Unknown	1620116
SNAI2	Repression	17575121

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001822	Process	Kidney development	IEA
GO:0004957	Function	Prostaglandin E receptor activity	IDA	10198228
GO:0005615	Component	Extracellular space	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	NAS	15581601
GO:0005829	Component	Cytosol	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006631	Process	Fatty acid metabolic process	IEA
GO:0006693	Process	Prostaglandin metabolic process	IBA
GO:0006693	Process	Prostaglandin metabolic process	IDA	16828555, 21072165
GO:0006693	Process	Prostaglandin metabolic process	IEA
GO:0007179	Process	Transforming growth factor beta receptor signaling pathway	IDA	15574495
GO:0007565	Process	Female pregnancy	IBA
GO:0007565	Process	Female pregnancy	IDA	15531523
GO:0007565	Process	Female pregnancy	IEA
GO:0007567	Process	Parturition	IDA	15531523
GO:0016323	Component	Basolateral plasma membrane	IEA
GO:0016404	Function	15-hydroxyprostaglandin dehydrogenase (NAD+) activity	IBA
GO:0016404	Function	15-hydroxyprostaglandin dehydrogenase (NAD+) activity	IDA	2025296, 10198228, 15581601, 16828555, 21072165
GO:0016404	Function	15-hydroxyprostaglandin dehydrogenase (NAD+) activity	IEA
GO:0016404	Function	15-hydroxyprostaglandin dehydrogenase (NAD+) activity	IMP	8086429
GO:0016404	Function	15-hydroxyprostaglandin dehydrogenase (NAD+) activity	NAS	7557451
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IDA	16757471
GO:0019372	Process	Lipoxygenase pathway	TAS	15581601
GO:0030728	Process	Ovulation	ISS
GO:0032355	Process	Response to estradiol	IEA
GO:0032496	Process	Response to lipopolysaccharide	IEA
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	21072165
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0045471	Process	Response to ethanol	IEA
GO:0045786	Process	Negative regulation of cell cycle	IDA	15574495
GO:0051287	Function	NAD binding	IDA	10198228, 15581601
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070403	Function	NAD+ binding	IDA	16828555, 21072165
GO:0070493	Process	Thrombin-activated receptor signaling pathway	IEA
GO:0070493	Process	Thrombin-activated receptor signaling pathway	ISS
GO:0097070	Process	Ductus arteriosus closure	IEA
GO:0097070	Process	Ductus arteriosus closure	ISS
GO:1904707	Process	Positive regulation of vascular associated smooth muscle cell proliferation	IEA
GO:1905828	Process	Regulation of prostaglandin catabolic process	IMP	8086429

Other IDs

• MIM: 601688
• HGNC: 5154
• e!Ensembl: ENSG00000164120

Protein

• UniProt ID: P15428
• Protein name: 15-hydroxyprostaglandin dehydrogenase [NAD(+)] (15-PGDH) (EC 1.1.1.141) (Eicosanoid/docosanoid dehydrogenase [NAD(+)]) (EC 1.1.1.-, EC 1.1.1.232) (Prostaglandin dehydrogenase 1) (Short chain dehydrogenase/reductase family 36C member 1)
• Protein function: Catalyzes the NAD-dependent dehydrogenation (oxidation) of a broad array of hydroxylated polyunsaturated fatty acids (mainly eicosanoids and docosanoids, including prostaglandins, lipoxins and resolvins), yielding their corresponding keto (oxo)
• PDB: 2GDZ, 8CVN, 8CWL, 8FD8
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00106	adh_short	6 → 199	short chain dehydrogenase	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in colon epithelium (at protein level). {ECO:0000269|PubMed:15574495}.
• Sequence:

  MHVNGKVALVTGAAQGIGRAFAEALLLKGAKVALVDWNLEAGVQCKAALDEQFEPQKTLF
  IQCDVADQQQLRDTFRKVVDHFGRLDILVNNAGVNNEKNWEKTLQINLVSVISGTYLGLD
  YMSKQNGGEGGIIINMSSLAGLMPVAQQPVYCASKHGIVGFTRSAALAANLMNSGVRLNA
  ICPGFVNTAILESIEKEENMGQYIEYKDHIKDMIKYYGILDPPLIANGLITLIEDDALNG
  AIMKITTSKGIHFQDYDTTPFQAKTQ

• Sequence length: 266

Pathways

KEGG:

Arachidonic acid metabolism
Transcriptional misregulation in cancer

Reactome:

Synthesis of Lipoxins (LX)
Biosynthesis of D-series resolvins
Biosynthesis of E-series 18(S)-resolvins

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
Cranioosteoarthropathy	Pathogenic	rs121434480	RCV000008379	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HPGD-related disorder	Pathogenic	rs587777719	RCV000779438	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertrophic osteoarthropathy, primary, autosomal recessive, 1	Likely pathogenic; Pathogenic	rs1164877128, rs577045722, rs587777719, rs2477840776, rs769423339, rs121434480, rs587776676, rs548208942, rs1579268244, rs375335006, rs1736201319, rs751774080	RCV005356365 RCV000144085 RCV000144086 RCV002287551 RCV004577925 RCV000144084 RCV000008380 RCV000008381 RCV003223600 RCV000735693 RCV001250391 RCV001250392	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Isolated congenital digital clubbing	Likely pathogenic; Pathogenic	rs1164877128, rs587777719, rs548208942, rs121434481	RCV005356365 RCV004819220 RCV001198389 RCV000008382	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BILIARY LIVER CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, MEDULLARY	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIO-OSTEOARTHROPATHY	—	ClinVar, Orphanet ClinVar, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGITAL CLUBBING, ISOLATED CONGENITAL	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PACHYDERMOPERIOSTOSIS	—	Orphanet Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRIMARY BILIARY CIRRHOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THYROID NEOPLASMS	—	CTD	★★☆☆☆ 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
VENOUS THROMBOEMBOLISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acne	Acne	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acquired deformity of finger	Mallet finger	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acro-Osteolysis	Acrosteolysis	BEFREE	20406614		★☆☆☆☆ Found in Text Mining only
Acro-Osteolysis	Acrosteolysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	19584167, 25735395		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Tubular	Adenocarcinoma	BEFREE	30531928		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	15542609, 16880406, 19470469, 21185829, 22580984, 23960441, 29769213		★☆☆☆☆ Found in Text Mining only
Adenoma of large intestine	Colorectal adenoma	BEFREE	22082586, 29769213		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	16880406		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	27140190		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	29224225, 30250298		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	26287481		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	26082314	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Barrett Epithelium	Barrett Epithelium	BEFREE	28922414		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	28922414		★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15328374, 16885386, 22072156, 23385883, 25003827, 25433169, 25773924, 27522468, 28029661, 28618256, 30717608		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25003827, 28206964, 35617355, 36077333	Associate	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20635443, 27561985, 30531928, 40095474	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	23960441	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	15542609, 16880406, 19108014, 19494278, 21185829		★☆☆☆☆ Found in Text Mining only
Carcinoma Intraductal Noninfiltrating	Intraductal noninfiltrating carcinoma	Pubtator	19393583	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18593902, 21763448		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	25735395	Inhibit	★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	30333561		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	30333561		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	18199552, 23687300, 24699315, 25691459		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34880125	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	34880125	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chordoma	Chordoma	BEFREE	29649649		★☆☆☆☆ Found in Text Mining only
Clubfoot	Clubfoot	Pubtator	24838973	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27864128		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	15574495, 18593902, 19501039, 19887544, 21763448, 23717544, 28402256, 28966256, 30931980, 31669540		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	15574495, 16880406, 19470469, 19887544, 24838973		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	15574495, 19034772		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	24838973, 30931980	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15542609, 19010907, 19034772, 19138942, 20042636, 21047993, 23222413, 23960441, 24694755, 24760190, 27522468, 28320945, 30931980		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	15542609, 23960441		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15574495, 23960441, 24760190	Inhibit	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	20635443, 24694755, 30931980	Associate	★☆☆☆☆ Found in Text Mining only
Congenital pectus excavatum	Congenital Pectus Excavatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cranio-osteoarthropathy	Cranioosteoarthropathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOOSTEOARTHROPATHY	Cranioosteoarthropathy	ORPHANET_DG	18500342, 21438135		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CRANIOOSTEOARTHROPATHY	Cranioosteoarthropathy	CTD_human_DG	18500342, 25526675		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CRANIOOSTEOARTHROPATHY	Cranioosteoarthropathy	BEFREE	19568269		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CRANIOOSTEOARTHROPATHY	Cranioosteoarthropathy	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CRANIOOSTEOARTHROPATHY	Cranioosteoarthropathy	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Crohn Disease	Crohn Disease	BEFREE	25666316		★☆☆☆☆ Found in Text Mining only
Currarino triad	Currarino Triad	ORPHANET_DG	18500342, 21438135		★☆☆☆☆ Found in Text Mining only
Cutis verticis gyrata	Cutis Verticis Gyrata	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	40597829	Associate	★☆☆☆☆ Found in Text Mining only
Diverticular Diseases	Diverticular Diseases	BEFREE	25666316		★☆☆☆☆ Found in Text Mining only
Eczema	Eczema	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	30168128		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	31692912	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	20023295		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	25735395		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	25735395		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	25735395	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	12901795, 25735395	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	31301306		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	30531928		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	22416177		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21763448, 29966699		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21763448, 29966699		★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	36793719	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Neoplasms	Head and neck neoplasm	Pubtator	27561985	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	25389781	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary clubbing	Hereditary Clubbing	CTD_human_DG	18500342, 25526675		★☆☆☆☆ Found in Text Mining only
Hereditary clubbing	Hereditary Clubbing	UNIPROT_DG	18805827		★☆☆☆☆ Found in Text Mining only
Hereditary clubbing	Hereditary Clubbing	ORPHANET_DG	18805827		★☆☆☆☆ Found in Text Mining only
Hereditary clubbing	Hereditary Clubbing	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hereditary clubbing	Hereditary Clubbing	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Hypertension Pulmonary	Pulmonary hypertension	Pubtator	37055764	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Hypertrophic Osteoarthropathy	CTD_human_DG	18500342, 25526675		★☆☆☆☆ Found in Text Mining only
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1	Hypertrophic Osteoarthropathy	UNIPROT_DG	18500342		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1	Hypertrophic Osteoarthropathy	ORPHANET_DG	18500342		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1	Hypertrophic Osteoarthropathy	CLINVAR_DG	24816859		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1	Hypertrophic Osteoarthropathy	BEFREE	28425581		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1	Hypertrophic Osteoarthropathy	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2	Hypertrophic Osteoarthropathy	BEFREE	28425581		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	37055764	Inhibit	★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	30816547		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31812575		★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial Aneurysm	BEFREE	29042428		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	23542179, 23954207		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	18593902		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19820419	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	25704623	Stimulate	★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15328374, 16885386, 22072156, 23385883, 25003827, 25433169, 25773924, 27522468, 28029661, 28618256, 30717608, 31063976		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	30168128		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	25735395		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	15574495, 23430757		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18593902, 21763448		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	29224225		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17013881		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	21281786, 29187884		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	19584167, 20699658, 21469975, 22416177, 30531928		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15542609, 16533162, 19034772, 19138967, 19494278, 19887544, 21856294, 22213328, 23385883, 23717544, 25433169, 25691459, 26476372, 28402256, 29224225, 30717608, 31669540		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	30333561		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	15574495, 16880406, 18593902, 19501039, 19887544, 21763448, 23717544, 27522468, 28402256, 28966256, 30931980, 31669540		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16885386		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	CTD_human_DG	11352223		★☆☆☆☆ Found in Text Mining only
Medullary carcinoma of thyroid	Megalencephaly, Polymicrogyria, Polydactyly, Hydrocephalus Syndrome	BEFREE	16997128		★☆☆☆☆ Found in Text Mining only
Mesothelioma	Mesothelioma	Pubtator	27605433	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	30619878		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	22553128		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15542609, 15574495, 16885386, 18593902, 19108014, 19138942, 19470469, 19494278, 19501039, 19887544, 20043083, 20699658, 21281786, 21469975, 21763448, 21856294, 22082586, 22213328, 22580984, 23385883, 23430757, 23542179, 23687300, 23960441, 25433169, 25735395, 25773924, 26068950, 27522468, 28320945, 28402256, 28922414, 29769213, 31063976, 31669540		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	19138967		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	28206964	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoarthropathy Primary Hypertrophic	Primary hypertrophic osteoarthropathy	Pubtator	24838973, 27134495, 28851954, 33550138, 33852188, 35813463, 37591693, 39607761, 40251683	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthropathy Primary Hypertrophic	Primary hypertrophic osteoarthropathy	Pubtator	28425581	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteoarthropathy, Primary Hypertrophic	Pachydermoperiostosis syndrome	BEFREE	18500342, 19306095, 19568269, 20299379, 20406614, 22331663, 22906430, 23531451, 24185079, 24533558, 26135126, 28851954, 29282707, 30292630, 30352415, 31063976		★☆☆☆☆ Found in Text Mining only
Osteoarthropathy, Primary Hypertrophic	Pachydermoperiostosis syndrome	LHGDN	18500342		★☆☆☆☆ Found in Text Mining only
Osteoarthropathy, Primary Hypertrophic	Pachydermoperiostosis syndrome	ORPHANET_DG	18500342		★☆☆☆☆ Found in Text Mining only
Osteoarthropathy, Primary Hypertrophic	Pachydermoperiostosis syndrome	CTD_human_DG	18500342, 25526675		★☆☆☆☆ Found in Text Mining only
Osteomyelitis	Osteomyelitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	37033258	Associate	★☆☆☆☆ Found in Text Mining only
Pachydermoperiostosis	Pachydermoperiostosis Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Palmoplantar Keratosis	Palmoplantar Keratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	29224225		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	30250298		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19820419	Associate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peeling Skin Syndrome	Peeling skin syndrome	Pubtator	25048443	Inhibit	★☆☆☆☆ Found in Text Mining only
Peptic Ulcer	Peptic Ulcer	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	36793719	Associate	★☆☆☆☆ Found in Text Mining only
Periostosis	Periostosis	BEFREE	19306095, 24816859		★☆☆☆☆ Found in Text Mining only
Polyposis, Gastric	Gastric polyposis	BEFREE	22416177		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	22553128		★☆☆☆☆ Found in Text Mining only
Prolactinoma	Prolactinoma	BEFREE	22580984		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29187884		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17013881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	21281786, 33107155	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31812575		★☆☆☆☆ Found in Text Mining only
Reginato Schiapachasse syndrome	Cranioosteoarthropathy	ORPHANET_DG	18500342, 21438135		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seborrheic dermatitis	Seborrheic dermatitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe Combined Immunodeficiency	Severe combined immunodeficiency disease	BEFREE	23542179		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	HPO_DG			★☆☆☆☆ Found in Text Mining only
Soft Tissue Neoplasms	Soft Tissue Neoplasms	BEFREE	31063976		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	25735395		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	25735395		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18254958, 27561985	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	27561985		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	30816547		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	19584167, 20699658, 21469975, 22416177, 30531928		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18174234		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	25704623, 26261578, 30531928, 33081378	Associate	★☆☆☆☆ Found in Text Mining only
Tendinopathy	Tendinopathy	BEFREE	28887458		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	CTD_human_DG	11352223		★☆☆☆☆ Found in Text Mining only
Thyroid Gland Follicular Adenoma	Thyroid Gland Follicular Adenoma	CTD_human_DG	11352223		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	CTD_human_DG	11352223		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	20299379		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	36077333	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	25666316		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	18308117	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	20093479	Inhibit	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	40095474	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	31301306		★☆☆☆☆ Found in Text Mining only