DSPP (dentin sialophosphoprotein)

Gene

• Entrez ID: 1834
• Gene name: Dentin sialophosphoprotein
• Gene symbol: DSPP
• Synonyms (NCBI Gene): DFNA39, DGI1, DMP3, DPP, DSP
• Chromosome: 4
• Chromosome location: 4q22.1
• Summary: This gene encodes a member of the small integrin-binding ligand N-linked glycoprotein (SIBLING) family of proteins. The encoded preproprotein is secreted by odontoblasts and proteolytically processed to generate two principal proteins of the dentin extrac

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912985	C>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs121912986	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs121912987	G>T	Pathogenic	Missense variant, coding sequence variant
rs121912988	T>G	Pathogenic	Missense variant, coding sequence variant
rs121912989	C>T	Pathogenic	Missense variant, coding sequence variant
rs201110163	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs1057521972	G>C	Likely-pathogenic	Splice acceptor variant
rs1395922945	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553904372	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553904404	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553904512	->CAGCG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1560477489	G>A	Pathogenic	Splice donor variant
rs1560478758	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1560480632	C>-	Pathogenic	Frameshift variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT563388	hsa-miR-3609	PAR-CLIP	20371350
MIRT563387	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT563386	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT563385	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT563384	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT563383	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT563382	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT563381	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT563380	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT563379	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT563378	hsa-miR-4796-3p	PAR-CLIP	20371350
MIRT563377	hsa-miR-4760-3p	PAR-CLIP	20371350
MIRT563376	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT563374	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT563375	hsa-miR-126-5p	PAR-CLIP	20371350
MIRT563373	hsa-miR-627-3p	PAR-CLIP	20371350
MIRT563372	hsa-miR-4795-3p	PAR-CLIP	20371350
MIRT563371	hsa-miR-5007-3p	PAR-CLIP	20371350
MIRT563370	hsa-miR-7159-3p	PAR-CLIP	20371350
MIRT563369	hsa-miR-4482-3p	PAR-CLIP	20371350
MIRT736512	hsa-miR-708-5p	Western blotting, Microarray, qRT-PCR, Flow cytometry	32952566
MIRT736514	hsa-miR-642a-5p	Western blotting, Microarray, qRT-PCR, Flow cytometry	32952566
MIRT563388	hsa-miR-3609	PAR-CLIP	20371350
MIRT563387	hsa-miR-548ah-5p	PAR-CLIP	20371350
MIRT563386	hsa-miR-106a-5p	PAR-CLIP	20371350
MIRT563385	hsa-miR-106b-5p	PAR-CLIP	20371350
MIRT563384	hsa-miR-17-5p	PAR-CLIP	20371350
MIRT563383	hsa-miR-20a-5p	PAR-CLIP	20371350
MIRT563382	hsa-miR-20b-5p	PAR-CLIP	20371350
MIRT563381	hsa-miR-519d-3p	PAR-CLIP	20371350
MIRT563380	hsa-miR-526b-3p	PAR-CLIP	20371350
MIRT563379	hsa-miR-93-5p	PAR-CLIP	20371350
MIRT563378	hsa-miR-4796-3p	PAR-CLIP	20371350
MIRT563377	hsa-miR-4760-3p	PAR-CLIP	20371350
MIRT563376	hsa-miR-142-5p	PAR-CLIP	20371350
MIRT563374	hsa-miR-5590-3p	PAR-CLIP	20371350
MIRT563375	hsa-miR-126-5p	PAR-CLIP	20371350
MIRT563373	hsa-miR-627-3p	PAR-CLIP	20371350
MIRT563372	hsa-miR-4795-3p	PAR-CLIP	20371350
MIRT563371	hsa-miR-5007-3p	PAR-CLIP	20371350
MIRT563370	hsa-miR-7159-3p	PAR-CLIP	20371350
MIRT563369	hsa-miR-4482-3p	PAR-CLIP	20371350

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005201	Function	Extracellular matrix structural constituent	TAS	8995371
GO:0005509	Function	Calcium ion binding	TAS	9879917
GO:0005518	Function	Collagen binding	IBA
GO:0005518	Function	Collagen binding	TAS	9879917
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005634	Component	Nucleus	IBA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	11856645
GO:0031012	Component	Extracellular matrix	TAS	8995371
GO:0031214	Process	Biomineral tissue development	IEA
GO:0071895	Process	Odontoblast differentiation	IBA
GO:0097187	Process	Dentinogenesis	IBA
GO:0097187	Process	Dentinogenesis	TAS	8995371, 9879917
GO:1901329	Process	Regulation of odontoblast differentiation	ISS	15308669

Other IDs

• MIM: 125485
• HGNC: 3054
• e!Ensembl: ENSG00000152591

Protein

• UniProt ID: Q9NZW4
• Protein name: Dentin sialophosphoprotein [Cleaved into: Dentin phosphoprotein (Dentin phosphophoryn) (DPP); Dentin sialoprotein (DSP)]
• Protein function: DSP may be an important factor in dentinogenesis. DPP may bind high amount of calcium and facilitate initial mineralization of dentin matrix collagen as well as regulate the size and shape of the crystals.
• Tissue specificity: TISSUE SPECIFICITY: Expressed in teeth. DPP is synthesized by odontoblast and transiently expressed by pre-ameloblasts.
• Sequence:

  MKIITYFCIWAVAWAIPVPQSKPLERHVEKSMNLHLLARSNVSVQDELNASGTIKESGVL
  VHEGDRGRQENTQDGHKGEGNGSKWAEVGGKSFSTYSTLANEEGNIEGWNGDTGKAETYG
  HDGIHGKEENITANGIQGQVSIIDNAGATNRSNTNGNTDKNTQNGDVGDAGHNEDVAVVQ
  EDGPQVAGSNNSTDNEDEIIENSCRNEGNTSEITPQINSKRNGTKEAEVTPGTGEDAGLD
  NSDGSPSGNGADEDEDEGSGDDEDEEAGNGKDSSNNSKGQEGQDHGKEDDHDSSIGQNSD
  SKEYYDPEGKEDPHNEVDGDKTSKSEENSAGIPEDNGSQRIEDTQKLNHRESKRVENRIT
  KESETHAVGKSQDKGIEIKGPSSGNRNITKEVGKGNEGKEDKGQHGMILGKGNVKTQGEV
  VNIEGPGQKSEPGNKVGHSNTGSDSNSDGYDSYDFDDKSMQGDDPNSSDESNGNDDANSE
  SDNNSSSRGDASYNSDESKDNGNGSDSKGAEDDDSDSTSDTNNSDSNGNGNNGNDDNDKS
  DSGKGKSDSSDSDSSDSSNSSDSSDSSDSDSSDSNSSSDSDSSDSDSSDSSDSDSSDSSN
  SSDSSDSSDSSDSSDSSDSSDSKSDSSKSESDSSDSDSKSDSSDSNSSDSSDNSDSSDSS
  NSSNSSDSSDSSDSSDSSSSSDSSNSSDSSDSSDSSNSSESSDSSDSSDSDSSDSSDSSN
  SNSSDSDSSNSSDSSDSSNSSDSSDSSDSSNSSDSSDSSDSSNSSDSSDSSDSSDSSDSS
  NSSDSNDSSNSSDSSDSSNSSDSSNSSDSSDSSDSSDSDSSNSSDSSNSSDSSDSSNSSD
  SSDSSDSSDGSDSDSSNRSDSSNSSDSSDSSDSSNSSDSSDSSDSNESSNSSDSSDSSNS
  SDSDSSDSSNSSDSSDSSNSSDSSESSNSSDNSNSSDSSNSSDSSDSSDSSNSSDSSNSS
  DSSNSSDSSDSNSSDSSDSSNSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSNSSD
  SSNSSDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSDSSDSSD
  SSESSDSSDSSNSSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSN
  SSDSSDSSESSDSSDSSDSSDSSDSSDSSDSSDSSDSSNSSDSSDSSDSSDSSDSSDSSD
  SSDSSDSSDSSDSSDSSDSSDSSDSSDSSDSNESSDSSDSSDSSDSSNSSDSSDSSDSSD
  STSDSNDESDSQSKSGNGNNNGSDSDSDSEGSDSNHSTSDD

• Sequence length: 1301

Pathways

KEGG:

ECM-receptor interaction

Reactome:

ECM proteoglycans

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
Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1	Likely pathogenic; Pathogenic	rs1553904404, rs1395922945	RCV000770815 RCV002497332	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1	Pathogenic	rs121912986, rs121912987	RCV000018349 RCV000018350	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentinogenesis imperfecta	Pathogenic	rs2475880340, rs1560477489, rs2475880409	RCV002282602 RCV002282603 RCV002282604	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentinogenesis imperfecta type 2	Likely pathogenic; Pathogenic	rs2109999064, rs1727745724, rs2475884746, rs2475885470, rs2475885503, rs2475887343, rs2475884550, rs2475883633, rs2475887311, rs121912985, rs1560477489, rs121912987, rs121912989, rs1560480632, rs1395922945	RCV001728052 RCV001775372 RCV002290212 RCV003221770 RCV003221771 RCV003328727 RCV003328728 RCV003388820 RCV003444009 RCV000018347 RCV000018348 RCV000018351 RCV000018355 RCV000018357 RCV002497332	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dentinogenesis imperfecta type 3	Likely pathogenic; Pathogenic	rs781361596, rs2109998972, rs121912987, rs1395922945	RCV001824199 RCV002226953 RCV000018352 RCV002497332	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DSPP-related disorder	Likely pathogenic; Pathogenic	rs2475883449, rs1560477489, rs1395922945	RCV003404385 RCV004528120 RCV004545813	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Monogenic hearing loss	Pathogenic	rs121912987	RCV006261938	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Pulp calcification	Pathogenic; Likely pathogenic	rs2475886487, rs1560478758, rs1553904372, rs1553904512, rs1395922945	RCV003221772 RCV000018356 RCV000662307 RCV000662308 RCV002497332	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTIN DYSPALSIA, SHIELDS TYPE 2	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA TYPE I	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA TYPE II	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTIN DYSPLASIA, TYPE II	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTINOGENESIS IMPERFECTA - SHIELDS TYPE III	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTINOGENESIS IMPERFECTA 1	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTINOGENESIS IMPERFECTA WITHOUT OSTEOGENESIS IMPERFECTA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTINOGENESIS IMPERFECTA, SHIELDS TYPE 3	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DENTINOGENESIS IMPERFECTA, SHIELDS TYPE III	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing impairment	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME	—	CTD	★★☆☆☆ 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	27630212, 29468916, 29618573, 29850606		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	11955647		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	26148547		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alopecia universalis	Alopecia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Alveolitis Extrinsic Allergic	Extrinsic allergic alveolitis	Pubtator	34996848	Associate	★☆☆☆☆ Found in Text Mining only
Alveolitis, Fibrosing	Alveolitis	CTD_human_DG	28166215		★☆☆☆☆ Found in Text Mining only
Amelogenesis Imperfecta	Amelogenesis imperfecta	BEFREE	17552940		★☆☆☆☆ Found in Text Mining only
Amelogenesis imperfecta nephrocalcinosis	Amelogenesis Imperfecta	BEFREE	26585738		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	28135336		★☆☆☆☆ Found in Text Mining only
ANONYCHIA	Anonychia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	31484862, 32005173, 32062131, 32410525, 32706220, 34132777, 34343150, 34352074, 35445468, 35470109, 37632291, 39551029	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG	10594734, 16917092, 19095136, 19279339, 19358943, 19558499, 20716751, 20864495, 21606390, 21723241, 21859740, 22555271, 23810894, 24070718, 24503780, 25525159, 26850880		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	12373648, 12875771, 15941723, 16061754, 16096717, 16415378, 16505173, 16698823, 16823493, 16917092, 17045679, 18662195, 18957847, 20124997, 20596727, 20829228, 21756917, 22036071, 22240500, 22798562, 23137101, 23307527, 23871674, 23954618, 24938629, 25691752, 25936878, 26585738, 28527814, 30160835, 30161220, 30773294, 31484862		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	LHGDN	12373648, 16917092		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	12373648, 12875771, 16175511, 16415378, 16698823, 17033975, 17924338, 18596851, 18632414, 20124997, 20152563, 21636032, 22214898, 22949226, 24503780, 25445213, 25837155, 26585738, 26850880, 28699631, 29178656, 29497013, 30129429, 30382575, 31024045, 31194698, 31319917, 31386562, 31484862, 32005173, 32046637, 32081916, 32301586, 32356610, 32372669, 32410525, 32592540, 33313835, 33684294, 33831308, 34087998, 34132777, 35470109, 35628349, 35819174, 36204818, 36481506, 36768812, 36868229, 37143080, 37418234, 37632291, 37885024, 39217685, 39369039	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia Familial 2	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	34087998	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG	10594734, 11063735, 16061754, 16917092, 19095136, 19279339, 20716751, 20864495, 21859740, 23671136, 23810894, 24070718, 24503780, 25227139, 25616645, 25820315, 26187847, 26735901, 27532257, 27831900, 28442525, 28527814		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Arrhythmogenic right ventricular cardiomyopathy	UNIPROT_DG	12373648, 15941723, 20031617		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Arrhythmogenic right ventricular cardiomyopathy	GENOMICS_ENGLAND_DG	20940358, 23500315, 25516398, 27532257, 30993396		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Arrhythmogenic right ventricular cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27186361, 28408925		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27186361, 28408925		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	28416308		★☆☆☆☆ Found in Text Mining only
Bicuspid aortic valve	Bicuspid aortic valve	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blister	Blister	Pubtator	35008956	Associate	★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	32969603	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases Metabolic	Bone disease	Pubtator	24747200	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	31610812	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15623631		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15084247, 9195978	Associate	★☆☆☆☆ Found in Text Mining only
Bronchiectasis	Bronchiectasis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brugada Syndrome	Brugada syndrome	Pubtator	26585738	Associate	★☆☆☆☆ Found in Text Mining only
Brugada Syndrome (disorder)	Brugada Syndrome	BEFREE	26585738		★☆☆☆☆ Found in Text Mining only
Bullous pemphigoid	Bullous Pemphigoid	BEFREE	30848289, 31275298, 31297116, 31519110, 31535624, 31605541, 8250577		★☆☆☆☆ Found in Text Mining only
Bundle Branch Block	Bundle branch block	Pubtator	31484862	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	30932369	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	22132232	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	15623631, 22791817, 24751108		★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	16489176	Stimulate	★☆☆☆☆ Found in Text Mining only
Cardiac Conduction System Disease	Cardiac conduction disease	Pubtator	39551029	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	12373648, 14761782, 16061754, 16093509, 16467215, 17105773, 19178614, 20302578, 20423733, 20738328, 21789513, 23137101, 23307527, 24825141, 24938629, 25227139, 26604139, 27097650, 27919765, 30160835, 30382575, 30945739, 31024045, 31037311, 31194698		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	12373648, 12875771, 16467215, 19924139, 21789513, 26604139, 28359509, 32005173, 32372669, 32942234, 33684294, 33874732, 34338756, 34343150, 35325485, 35445468, 36768812	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	LHGDN	16628197, 16917092		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG	19924139, 27435932		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	11841538, 16698823, 24503780, 31024045, 31770195, 31983221, 32005173, 32969603, 34213952, 34343150, 35445468, 36129056, 36672924, 36768812, 37562008, 37632291	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	28934278	Inhibit	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	30371277	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy dilated with Woolly hair and keratoderma	Dilated cardiomyopathy with woolly hair and keratoderma	CLINVAR_DG	10594734, 11063735, 16061754, 16917092, 19095136, 19279339, 20716751, 20864495, 21859740, 23671136, 23810894, 24070718, 24503780, 25227139, 25616645, 25820315, 26187847, 26735901, 27532257, 27831900, 28442525, 28527814		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy dilated with Woolly hair and keratoderma	Dilated cardiomyopathy with woolly hair and keratoderma	ORPHANET_DG	11063735		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy dilated with Woolly hair and keratoderma	Dilated cardiomyopathy with woolly hair and keratoderma	BEFREE	14761782, 16175511, 17045679, 21789513, 23137101, 25824144		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy dilated with woolly hair and keratoderma	Dilated cardiomyopathy	Pubtator	16175511, 21789513, 22949226, 30944905, 34343150, 35210635, 37143080	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy dilated with Woolly hair and keratoderma	Dilated cardiomyopathy with woolly hair and keratoderma	GENOMICS_ENGLAND_DG	20940358, 23500315, 25516398, 27532257, 30993396		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy dilated with Woolly hair and keratoderma	Dilated cardiomyopathy with woolly hair and keratoderma	CTD_human_DG	21193976		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	28699631, 32344918	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	10594734, 11063735, 16467215, 16917092, 19095136, 19279339, 19558499, 20716751, 20864495, 21606390, 21859740, 23810894, 24503780, 25525159, 25616645, 26850880, 27532257, 28588093		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	11063735, 15210133, 16698823		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS	Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	UNIPROT_DG	16628197, 20940358, 22795705		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS	Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	GENOMICS_ENGLAND_DG	23500315, 27532257, 30993396		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS	Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, WITH WOOLLY HAIR, KERATODERMA, AND TOOTH AGENESIS	Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	24938629, 28934278, 31317183		★☆☆☆☆ Found in Text Mining only
Cardiovascular Abnormalities	Cardiovascular Abnormalities	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	27813442, 28056431, 28899989, 29618573, 29789684, 29850606, 29858866, 29935543, 30289308		★☆☆☆☆ Found in Text Mining only
Carvajal syndrome	Carvajal Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27813442, 28249585, 28899989, 29330813, 29411931, 31338935		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28183314, 29223646, 29611727, 30207040, 31112536		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	27077766, 3315178		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	28166215, 31324189		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	CTD_human_DG	28166215		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	28166215, 30804561		★☆☆☆☆ Found in Text Mining only
Cleidocranial Dysplasia	Cleidocranial Dysplasia	BEFREE	25589510		★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26241740		★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	19945626, 25227139, 26148547		★☆☆☆☆ Found in Text Mining only
Congenital hypotrichia	Congenital Hypotrichia	BEFREE	31414503		★☆☆☆☆ Found in Text Mining only
Congenital ichthyosis	Congenital Ichthyosis	BEFREE	29066275		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	16467215, 18649053, 21789513, 25616645, 27745828, 28592726, 28899989, 29437648, 29468916, 29655237, 29935543, 29943442, 30126735, 30609236, 31028667, 31338935, 31495989		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	28490445		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	28490445	Associate	★☆☆☆☆ Found in Text Mining only
Darier Disease	Darier disease	Pubtator	14675181, 22277942	Associate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	30682115	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1	Deafness With Dentinogenesis Imperfecta	GENOMICS_ENGLAND_DG	11175779, 27973701, 9533027		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1	Deafness With Dentinogenesis Imperfecta	UNIPROT_DG	11175790, 22392858		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1	Deafness With Dentinogenesis Imperfecta	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Deafness, Autosomal Dominant 39, with Dentinogenesis Imperfecta 1	Deafness With Dentinogenesis Imperfecta	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS IMPERFECTA 1	DEAFNESS,NONSYNDROMIC SENSORINEURAL, WITH DENTINOGENESIS IMPERFECTA	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Degenerative polyarthritis	Arthritis	BEFREE	23546957		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	30597861		★☆☆☆☆ Found in Text Mining only
Dental Enamel Hypoplasia	Dental enamel hypoplasia	Pubtator	22243242	Associate	★☆☆☆☆ Found in Text Mining only
Dental Pulp Stone	Dental Pulp Stone	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dentin dyspalsia, Shields type 2	Denticles	UNIPROT_DG	12354781, 18521831		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentin dyspalsia, Shields type 2	Denticles	BEFREE	15690376, 17026502, 19026876, 20949630, 22243242, 25118030, 9541230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentin dyspalsia, Shields type 2	Denticles	CLINVAR_DG	26788535		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentin dyspalsia, Shields type 2	Denticles	GENOMICS_ENGLAND_DG	27973701, 9533027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentin dyspalsia, Shields type 2	Denticles	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentin dyspalsia, Shields type 2	Denticles	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentin Dysplasia	Dentin dysplasia	Pubtator	16567553, 17627120, 19029076, 20949630	Associate	★☆☆☆☆ Found in Text Mining only
Dentin dysplasia type 1	Dentin dysplasia	Pubtator	15241678	Associate	★☆☆☆☆ Found in Text Mining only
Dentin dysplasia type I	Dentin Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentin dysplasia type II	Dentin Dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentin dysplasia, type 1	Dentin Dysplasia	BEFREE	23712319		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentin dysplasia, type 1	Dentin Dysplasia	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	BEFREE	10371252, 11175770, 12721295, 14758537, 15241678, 15592686, 15690376, 16955410, 17026502, 1729887, 17552940, 17686168, 18521831, 18797159, 19026876, 19029076, 19103209, 19131317, 19379665, 20121932, 20146806, 20618350, 21029264, 22125647, 22243242, 22392858, 22521702, 23227268, 23509818, 25118030, 27973701, 29117466, 29512331, 29672573, 29679229, 31173534, 8586437, 9541230		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	CLINGEN_DG	11175790, 12721295, 15241678, 15592686, 15690376, 17686168, 18456718, 23509818		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentinogenesis Imperfecta	Dentinogenesis imperfecta	Pubtator	15241678, 15592686, 16567553, 17686168, 18797159, 19026876, 19029076, 20146806, 20949630, 22125647, 22243242, 22310900, 23227268, 29512331	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	LHGDN	16920545, 17686168, 18521831, 18797159		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentinogenesis Imperfecta	Dentinogenesis Imperfecta	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentinogenesis imperfecta - Shield`s type III (disorder)	Dentinogenesis Imperfecta	UNIPROT_DG	15592686, 18521831, 23509818		★☆☆☆☆ Found in Text Mining only
Dentinogenesis imperfecta - Shield`s type III (disorder)	Dentinogenesis Imperfecta	GENOMICS_ENGLAND_DG	27973701, 9533027		★☆☆☆☆ Found in Text Mining only
Dentinogenesis imperfecta - Shield`s type III (disorder)	Dentinogenesis Imperfecta	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Dentinogenesis imperfecta - Shield`s type III (disorder)	Dentinogenesis Imperfecta	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Dentinogenesis imperfecta - Shield`s type III (disorder)	Dentinogenesis Imperfecta	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Dentinogenesis imperfecta shields type 3	Dentinogenesis imperfecta	Pubtator	15592686, 22243242	Associate	★☆☆☆☆ Found in Text Mining only
Dentinogenesis imperfecta type 2	Dentinogenesis Imperfecta	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Dentinogenesis imperfecta type 3	Dentinogenesis Imperfecta	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dentinogenesis imperfecta without osteogenesis imperfecta	Dentinogenesis Imperfecta	BEFREE	11175779, 11175790, 22243242, 22310900, 22392858, 29575674, 9541230		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentinogenesis imperfecta without osteogenesis imperfecta	Dentinogenesis Imperfecta	GENOMICS_ENGLAND_DG	11175779, 27973701, 9533027		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentinogenesis imperfecta without osteogenesis imperfecta	Dentinogenesis Imperfecta	UNIPROT_DG	11175779, 14758537, 17627120, 21029264, 22392858		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentinogenesis imperfecta without osteogenesis imperfecta	Dentinogenesis Imperfecta	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentinogenesis imperfecta without osteogenesis imperfecta	Dentinogenesis Imperfecta	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dentinogenesis imperfecta without osteogenesis imperfecta	Dentinogenesis Imperfecta	ORPHANET_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dermatitis	Dermatitis	Pubtator	26073755	Associate	★☆☆☆☆ Found in Text Mining only
Dermatitis	Dermatitis	BEFREE	27154412, 31599750		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	12875771, 26604139, 29291530		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	28207538, 28779212, 28878936, 29174215, 29223646, 29254987, 29298703, 31326454, 31425698, 31471729, 31496139, 31837333		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28207538, 28592726, 28779212, 28878936, 29174215, 29223646, 29254987, 29298703, 29541610, 31326454, 31425698, 31471729, 31496139, 31837333		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	29452961		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	26253612, 27745828, 28056431, 28169131, 28183314, 28237860, 28500215, 28656707, 28823610, 28878936, 28984487, 29074120, 29206832, 29223646, 29254987, 29376760, 29382749, 29391064, 29411931, 29437648, 29471869, 29477373, 29611727, 29766544, 29941715, 30121725, 30126735, 30142816, 30145651, 30207040, 30243806, 30284688, 30367902, 30394576, 30597861, 30609236, 30742667, 30826768, 31028667, 31040779, 31112536, 31168889, 31208420, 31297116, 31326454, 31366262, 31431452, 31456304, 31535624, 31654243, 31778076		★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	31456304		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	31495989		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29369494		★☆☆☆☆ Found in Text Mining only
Diarrhea 5 With Tufting Enteropathy Congenital	Congenital diarrhea	Pubtator	20186700	Associate	★☆☆☆☆ Found in Text Mining only
Diastrophic dysplasia	Diastrophic dysplasia	Pubtator	17627120	Associate	★☆☆☆☆ Found in Text Mining only
Dystonic Disorders	Dystonia	Pubtator	12875771	Associate	★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	BEFREE	29633331		★☆☆☆☆ Found in Text Mining only
Dystrophia unguium	Nail dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ectodermal Dysplasia	Ectodermal Dysplasia	BEFREE	24341478		★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia/ skin fragility syndrome	Ectodermal Dysplasia	BEFREE	19016709		★☆☆☆☆ Found in Text Mining only
Ectodermal dysplasia/ skin fragility syndrome	Ectodermal Dysplasia	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	32005173	Associate	★☆☆☆☆ Found in Text Mining only
Emphysema	Emphysema	Pubtator	31324189	Associate	★☆☆☆☆ Found in Text Mining only
Eosinophilic Esophagitis	Eosinophilia	Pubtator	34815391	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis Bullosa	Epidermolysis Bullosa	LHGDN	16175511		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa lethal acantholytic	Lethal acantholytic epidermolysis bullosa	Pubtator	16175511	Associate	★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa, lethal acantholytic	Epidermolysis Bullosa	BEFREE	16175511, 19945626, 20302578, 29607617		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa, lethal acantholytic	Epidermolysis Bullosa	ORPHANET_DG	16175511, 20302578		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa, lethal acantholytic	Epidermolysis Bullosa	GENOMICS_ENGLAND_DG	20940358, 23500315, 25516398, 27532257, 30993396		★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa, lethal acantholytic	Epidermolysis Bullosa	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Epidermolysis bullosa, lethal acantholytic	Epidermolysis Bullosa	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Erythema Multiforme	Erythema	BEFREE	31599750		★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia Variabilis	Erythrokeratodermia variabilis	Pubtator	34343150	Associate	★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia with ataxia	Erythrokeratodermia with ataxia	Pubtator	26604139	Associate	★☆☆☆☆ Found in Text Mining only
Erythrokeratodermia-cardiomyopathy syndrome	Erythrokeratodermia-Cardiomyopathy Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	24568510	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	25387699		★☆☆☆☆ Found in Text Mining only
Exfoliative dermatitis	Exfoliative Dermatitis	BEFREE	31037311		★☆☆☆☆ Found in Text Mining only
Familial benign pemphigus	Benign Pemphigus	BEFREE	1694381		★☆☆☆☆ Found in Text Mining only
Familial Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	23583980		★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	31672448		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized pustular psoriasis	Pustular Psoriasis	BEFREE	31106887		★☆☆☆☆ Found in Text Mining only
Gingival Recession	Gingival Recession	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	30309696		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	30402851	Associate	★☆☆☆☆ Found in Text Mining only
Hair Diseases	Hair Diseases	BEFREE	17045679		★☆☆☆☆ 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	23583980		★☆☆☆☆ Found in Text Mining only
Hay-Wells syndrome	Hay-Wells syndrome	BEFREE	23108156		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	27550943		★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	15241678	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	15241678	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss, High-Frequency	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	37632291	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	22949226, 30944905, 32062131, 32410525, 32706220, 34343150, 34815391, 35325485	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	16467215, 18649053, 21789513, 25616645, 27745828, 28592726, 28899989, 29437648, 29468916, 29655237, 29935543, 29943442, 30126735, 30609236, 31028667, 31338935, 31495989		★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	16467215, 21789513, 32942234, 35470109, 39523938	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	34352074	Stimulate	★☆☆☆☆ Found in Text Mining only
Hereditary bundle branch system defect	Hereditary Bundle Branch System Defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Opalescent Dentin (disorder)	Hereditary Opalescent Dentin	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	31611621		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	32372669	Stimulate	★☆☆☆☆ Found in Text Mining only
Honeycomb lung	Honeycomb lung	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	29241374		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	BEFREE	26303123		★☆☆☆☆ Found in Text Mining only
Hyperkeratosis, Epidermolytic	Hyperkeratosis, Epidermolytic	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	28699631		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG			★☆☆☆☆ Found in Text Mining only
Hypodontia	Hypodontia	BEFREE	20940358		★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	28249585, 28448177, 28656707, 28934557, 29468916, 29696567, 30284688		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	22703652	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	BEFREE	31414503		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	29066275		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	23583980		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	ORPHANET_DG	23583980		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary fibrosis	Pulmonary Fibrosis	Orphanet			★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	26669357, 29066090, 29920840, 29924937, 30207747, 31324189		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	26669357, 29066090, 31324189, 31339356, 32551799, 33076992, 34515605, 35816432	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	GWASCAT_DG	29066090		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28056430		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	22132232	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Arteriovenous Malformations	Intracranial arteriovenous malformation	Pubtator	32281240	Associate	★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	BEFREE	12373648, 16698823, 17045679, 21789513, 25227139, 26399581, 29607617, 31037311, 31192455, 9887343		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Keratosis Follicularis	Keratosis Follicularis	BEFREE	22277942		★☆☆☆☆ Found in Text Mining only
Keratosis palmoplantaris striata 1	Keratosis palmoplantaris striata	Pubtator	10594734, 11841538, 11982762, 19157795	Associate	★☆☆☆☆ Found in Text Mining only
KERATOSIS PALMOPLANTARIS STRIATA II	Keratosis Palmoplantaris Striata	GENOMICS_ENGLAND_DG	20940358, 23500315, 25516398, 27532257, 30993396		★☆☆☆☆ Found in Text Mining only
KERATOSIS PALMOPLANTARIS STRIATA II	Keratosis Palmoplantaris Striata	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
KERATOSIS PALMOPLANTARIS STRIATA II	Keratosis Palmoplantaris Striata	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	27745828, 29146035		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	30207040		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	12019207		★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Autoimmune Diabetes	BEFREE	29452961		★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	LEOPARD Syndrome	BEFREE	26303123		★☆☆☆☆ Found in Text Mining only
LEOPARD Syndrome	Leopard syndrome	Pubtator	26604139	Associate	★☆☆☆☆ Found in Text Mining only
Lethal acantholytic erosive disorder	Lethal Acantholytic Erosive Disorder	Orphanet			★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	19386346, 21103065, 25666817, 27881474, 30002682		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long QT Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Long QT Syndrome 1	Long QT Syndrome	CLINVAR_DG	19095136, 19279339, 21606390, 21606396, 25163546, 25225338, 25820315, 30382575		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	GWASDB_DG	23583980		★☆☆☆☆ Found in Text Mining only
Lung Diseases, Interstitial	Lung Diseases	GWASCAT_DG	23583980		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	22791817		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	24260260	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	27550943		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15623631		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	15623631, 22791817, 24751108		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	19386346, 21103065, 25666817, 27881474, 30002682		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	21103065		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of oropharynx	Malignant Neoplasm Of Oropharynx	BEFREE	19386346		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	27630212, 27745828, 28249585, 30306620, 31431452		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16108038, 19671866, 26259043, 28790395, 30738292		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31484163		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15807686, 16108038, 22791817, 24938523, 27881474, 28169131, 30002682		★☆☆☆☆ Found in Text Mining only
Marginal Zone B-Cell Lymphoma	B-Cell Lymphoma	BEFREE	3315178		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	15888148		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	16554968		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	26073755	Associate	★☆☆☆☆ Found in Text Mining only
Microscopic Polyangiitis	Microscopic polyangiitis	Pubtator	33076992	Associate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	31702473		★☆☆☆☆ Found in Text Mining only
Mouth Diseases	Mouth disease	Pubtator	30932369	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	21103065		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Neoplasms	Mouth neoplasm	Pubtator	27881474, 30002682, 30932369	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple Sclerosis	BEFREE	24412911		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	27745828, 28249585, 28899989, 31338935		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	Pubtator	32410525, 36768812	Associate	★☆☆☆☆ Found in Text Mining only
NAIL DISORDER, NONSYNDROMIC CONGENITAL, 9	Nail Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nail dysplasia	Nail dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Naxos disease	Naxos Disease	BEFREE	15210133, 16698823, 16722579		★☆☆☆☆ Found in Text Mining only
Naxos disease	Naxos disease	Pubtator	16175511, 16698823, 22949226, 34343150, 35210635	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10424382, 16108038, 19386346, 21103065, 22791817, 28875845, 30542560, 30932369, 31214676		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 2	Neurofibromatosis	Pubtator	34571875	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	9566392		★☆☆☆☆ Found in Text Mining only
Nodular Sclerosis Classical Hodgkin Lymphoma	Classical Hodgkin lymphoma	BEFREE	29741433		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	31672448		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22791817, 29901163		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	26253612, 28207538		★☆☆☆☆ Found in Text Mining only
Oligodontia	Oligodontia	BEFREE	20940358		★☆☆☆☆ Found in Text Mining only
Opalescent dentin	Opalescent Dentin	BEFREE	11175779, 11175790		★☆☆☆☆ Found in Text Mining only
Opalescent dentin	Opalescent Dentin	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Opalescent dentin	Opalescent Dentin	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Oropharyngeal Carcinoma	Oropharyngeal Carcinoma	BEFREE	19386346		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23546957	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	25387699		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	7527220	Associate	★☆☆☆☆ Found in Text Mining only
PALMOPLANTAR KERATODERMA AND WOOLLY HAIR	Palmoplantar Keratoderma And Woolly Hair	BEFREE	18957847		★☆☆☆☆ Found in Text Mining only
Palmoplantar Keratosis	Palmoplantar Keratosis	LHGDN	16628197		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	27630212, 27745828, 28249585, 30306620, 31431452		★☆☆☆☆ Found in Text Mining only
Pancreatic Diseases	Pancreatic Diseases	BEFREE	30306620		★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	BEFREE	27630212, 29850606, 31431452		★☆☆☆☆ Found in Text Mining only
Parakeratosis	Parakeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paroxysmal ventricular fibrillation	Paroxysmal ventricular fibrillation	Pubtator	37949661	Associate	★☆☆☆☆ Found in Text Mining only
Patchy palmoplantar keratoderma	Patchy palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	BEFREE	25010392		★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	25010392	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	BEFREE	17518986, 21078676, 25010392		★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	9566392		★☆☆☆☆ Found in Text Mining only
Phrynoderma	Phrynoderma	BEFREE	29633331		★☆☆☆☆ Found in Text Mining only
Polycythemia Vera	Polycythemia vera	Pubtator	35819174	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	30597861		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16108038, 19671866, 26259043, 28790395, 30738292		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16108038		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	19671866		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	19671866	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	27331624	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	40483843	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	31324189, 35857525, 36698131, 36780661	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Emphysema	Pulmonary Emphysema	BEFREE	31324189		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28166215, 29924937, 30207747		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	CTD_human_DG	28166215		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary fibrosis	Pubtator	28166215	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	29236221		★☆☆☆☆ Found in Text Mining only
Right ventricular cardiomyopathy	Ventricular Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right ventricular cardiomyopathy	Ventricular Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Right ventricular dilatation	Right ventricular dilatation	BEFREE	25691752		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	27881474	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	15920547	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	1704194	Associate	★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	BEFREE	31599750		★☆☆☆☆ Found in Text Mining only
Scleroderma Systemic	Systemic sclerosis	Pubtator	26792595	Associate	★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe dermatitis, multiple allergies, metabolic wasting syndrome	Dermatitis	ORPHANET_DG	26073755		★☆☆☆☆ Found in Text Mining only
Severe dermatitis, multiple allergies, metabolic wasting syndrome	Dermatitis	BEFREE	27154412, 31106887		★☆☆☆☆ Found in Text Mining only
Severe dermatitis-multiple allergies-metabolic wasting syndrome	Dermatitis-Multiple Allergies-Metabolic Wasting Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	32062131	Associate	★☆☆☆☆ Found in Text Mining only
Skin Abnormalities	Skin abnormalities	Pubtator	19924139, 30944905	Associate	★☆☆☆☆ Found in Text Mining only
Skin Diseases	Skin disease	Pubtator	12875771, 34343150	Associate	★☆☆☆☆ Found in Text Mining only
Skin Erosion	Skin Erosion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Skin Fragility-Woolly Hair Syndrome	Skin Fragility-Woolly Hair Syndrome	BEFREE	11841538, 20738328		★☆☆☆☆ Found in Text Mining only
Skin Fragility-Woolly Hair Syndrome	Skin Fragility-Woolly Hair Syndrome	ORPHANET_DG	11841538		★☆☆☆☆ Found in Text Mining only
Skin Fragility-Woolly Hair Syndrome	Skin Fragility-Woolly Hair Syndrome	UNIPROT_DG	11841538		★☆☆☆☆ Found in Text Mining only
Skin Fragility-Woolly Hair Syndrome	Skin Fragility-Woolly Hair Syndrome	GENOMICS_ENGLAND_DG	20940358, 23500315, 25516398, 27532257, 30993396		★☆☆☆☆ Found in Text Mining only
Skin Fragility-Woolly Hair Syndrome	Skin Fragility-Woolly Hair Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Skin Fragility-Woolly Hair Syndrome	Skin Fragility-Woolly Hair Syndrome	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Skin fragility-woolly hair-palmoplantar keratoderma syndrome	Palmoplantar Keratoderma And Woolly Hair	Orphanet			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	10424382, 11955647, 17593084, 19386346		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	21103065		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24568510		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20186700, 22410369	Stimulate	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	30002682, 30320380, 30932369, 32630820	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	29928453, 30015841		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31484163		★☆☆☆☆ Found in Text Mining only
Striate palmoplantar keratoderma	Striate Palmoplantar Keratoderma	BEFREE	10594734, 11982762, 15149499, 16175511, 19018793		★☆☆☆☆ Found in Text Mining only
Striate palmoplantar keratoderma	Striate Palmoplantar Keratoderma	ORPHANET_DG	9887343		★☆☆☆☆ Found in Text Mining only
Striate palmoplantar keratoderma	Striate Palmoplantar Keratoderma	Orphanet			★☆☆☆☆ Found in Text Mining only
Syndactyly	Syndactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	38206261, 39551029	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	BEFREE	21397041		★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Testicular regression syndrome	Testicular regression syndrome	BEFREE	30408108		★☆☆☆☆ Found in Text Mining only
Toxic Epidermal Necrolysis	Stevens-Johnson Syndrome	BEFREE	31599750		★☆☆☆☆ Found in Text Mining only
Tricuspid Valve Insufficiency	Tricuspid valve disease	Pubtator	31770195	Associate	★☆☆☆☆ Found in Text Mining only
Ulcer of esophagus	Ulcer Of Esophagus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasm	Uterine cervix neoplasm	BEFREE	30932369		★☆☆☆☆ Found in Text Mining only
Varicose Veins	Varicose veins	Pubtator	15744037	Associate	★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	15744037		★☆☆☆☆ Found in Text Mining only
Vascular Remodeling	Vascular remodeling	Pubtator	32706220	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	Pubtator	33076992	Associate	★☆☆☆☆ Found in Text Mining only
Vasculitis Leukocytoclastic Cutaneous	Vasculitis	Pubtator	37143080	Associate	★☆☆☆☆ Found in Text Mining only
Vasospasm Intracranial	Intracranial vasospasm	Pubtator	36631170	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	21756917, 24938629		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	16698823, 32005173, 32372669, 35470109, 35819174, 36768812	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Right	Ventricular dysfunction	Pubtator	35470109	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	31484862, 36631170	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular Fibrillation	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Premature Complexes	Ventricular ectopy	Pubtator	35445468	Associate	★☆☆☆☆ Found in Text Mining only
Woolly hair congenital	Woolly hair	Pubtator	11841538, 16175511	Associate	★☆☆☆☆ Found in Text Mining only