TRPV4 (transient receptor potential cation channel subfamily V member 4)

Gene

• Entrez ID: 59341
• Gene name: Transient receptor potential cation channel subfamily V member 4
• Gene symbol: TRPV4
• Synonyms (NCBI Gene): BCYM3, CMT2C, HMSN2C, OTRPC4, SMAL, SPSMA, SSQTL1, TRP12, VRL2, VROAC
• Chromosome: 12
• Chromosome location: 12q24.11
• Summary: This gene encodes a member of the OSM9-like transient receptor potential channel (OTRPC) subfamily in the transient receptor potential (TRP) superfamily of ion channels. The encoded protein is a Ca2+-permeable, nonselective cation channel that is thought

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs77975504	C>T	Pathogenic	Coding sequence variant, missense variant
rs116571438	G>A,T	Pathogenic	Downstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant, missense variant
rs121912632	C>T	Pathogenic	Coding sequence variant, missense variant
rs121912633	C>A,T	Pathogenic	Coding sequence variant, missense variant
rs121912634	T>C	Pathogenic	Coding sequence variant, missense variant
rs121912635	C>A	Pathogenic	Coding sequence variant, downstream transcript variant, genic downstream transcript variant, missense variant
rs121912636	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs121912637	G>A,C	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs138986228	C>A,G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Downstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs141135321	G>A	Conflicting-interpretations-of-pathogenicity	Downstream transcript variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs187864727	C>A,T	Uncertain-significance, pathogenic, benign-likely-benign, benign	Missense variant, coding sequence variant
rs201241092	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, synonymous variant, coding sequence variant
rs201815805	G>A,C	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs267607143	G>A	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs267607144	C>T	Pathogenic-likely-pathogenic, pathogenic, conflicting-interpretations-of-pathogenicity	Intron variant, missense variant, coding sequence variant
rs267607145	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs267607146	G>A,T	Uncertain-significance, pathogenic, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs267607147	G>A,C	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs267607148	C>T	Pathogenic, likely-pathogenic	Intron variant, missense variant, coding sequence variant
rs267607149	C>T	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs267607150	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906324	C>T	Pathogenic	Missense variant, coding sequence variant
rs387906902	G>C,T	Pathogenic	Missense variant, coding sequence variant
rs387906903	T>C	Pathogenic	Missense variant, coding sequence variant
rs387906904	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs387906905	C>T	Likely-pathogenic, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs387906906	G>A	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant, 3 prime UTR variant
rs387906907	T>C	Pathogenic	Intron variant, missense variant, coding sequence variant
rs387907219	C>G,T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs387907220	C>A	Pathogenic	Intron variant, missense variant, coding sequence variant
rs397514473	G>A	Pathogenic	Missense variant, coding sequence variant
rs397514474	C>A	Pathogenic	Missense variant, coding sequence variant
rs397514494	C>T	Likely-pathogenic, pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs515726152	C>A	Pathogenic	Missense variant, coding sequence variant
rs515726153	T>C	Pathogenic	Intron variant, missense variant, coding sequence variant
rs515726154	AAG>-	Likely-pathogenic, pathogenic	Coding sequence variant, inframe deletion
rs515726155	->GGA	Pathogenic	Inframe insertion, coding sequence variant
rs515726157	T>C	Pathogenic	Missense variant, coding sequence variant
rs515726158	A>G	Pathogenic	Missense variant, coding sequence variant
rs515726159	A>G	Pathogenic	Missense variant, coding sequence variant
rs515726160	C>A	Pathogenic	Missense variant, coding sequence variant
rs515726161	G>C	Pathogenic	Missense variant, coding sequence variant
rs515726162	G>T	Pathogenic	Missense variant, coding sequence variant
rs515726163	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs515726164	C>T	Pathogenic	Missense variant, coding sequence variant
rs515726165	C>T	Pathogenic	Downstream transcript variant, genic downstream transcript variant, missense variant, coding sequence variant
rs515726166	TCATTCTTGCCCGGGTC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs515726167	C>G,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs515726169	C>G	Pathogenic	Intron variant, missense variant, coding sequence variant
rs515726170	G>C	Pathogenic	Intron variant, missense variant, coding sequence variant
rs515726171	T>C	Pathogenic	Missense variant, coding sequence variant
rs515726172	A>G	Pathogenic	Missense variant, coding sequence variant
rs541606391	G>-	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, frameshift variant
rs751139506	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs876661124	G>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs1057520305	CGGG>-	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1064795536	T>C	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1064795696	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1289139464	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs1555204446	A>T	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1555204615	C>T	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1555205335	A>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, downstream transcript variant
rs1555208063	T>G	Likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs1565868973	A>T	Pathogenic	Missense variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018474	hsa-miR-335-5p	Microarray	18185580
MIRT1457870	hsa-miR-1207-3p	CLIP-seq
MIRT1457871	hsa-miR-1207-5p	CLIP-seq
MIRT1457872	hsa-miR-1909	CLIP-seq
MIRT1457873	hsa-miR-3151	CLIP-seq
MIRT1457874	hsa-miR-4267	CLIP-seq
MIRT1457875	hsa-miR-4447	CLIP-seq
MIRT1457876	hsa-miR-4455	CLIP-seq
MIRT1457877	hsa-miR-4472	CLIP-seq
MIRT1457878	hsa-miR-4731-5p	CLIP-seq
MIRT1457879	hsa-miR-4755-3p	CLIP-seq
MIRT1457880	hsa-miR-4763-3p	CLIP-seq
MIRT1457881	hsa-miR-486-3p	CLIP-seq
MIRT1457882	hsa-miR-491-5p	CLIP-seq
MIRT2651544	hsa-miR-1200	CLIP-seq
MIRT2651545	hsa-miR-2278	CLIP-seq
MIRT2651546	hsa-miR-4324	CLIP-seq
MIRT2651547	hsa-miR-4468	CLIP-seq
MIRT2651548	hsa-miR-516a-3p	CLIP-seq
MIRT2651549	hsa-miR-544b	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0001666	Process	Response to hypoxia	IEA
GO:0002024	Process	Diet induced thermogenesis	IEA
GO:0003779	Function	Actin binding	IEA
GO:0003779	Function	Actin binding	ISS
GO:0005034	Function	Osmosensor activity	IEA
GO:0005080	Function	Protein kinase C binding	IEA
GO:0005080	Function	Protein kinase C binding	ISS
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IDA	12724311
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IBA
GO:0005262	Function	Calcium channel activity	IDA	18458941, 29899501
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	TAS
GO:0005515	Function	Protein binding	IPI	16293632, 21262839, 29899501
GO:0005516	Function	Calmodulin binding	IEA
GO:0005516	Function	Calmodulin binding	IMP	12724311
GO:0005524	Function	ATP binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005881	Component	Cytoplasmic microtubule	IEA
GO:0005881	Component	Cytoplasmic microtubule	ISS
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	15753126, 23136043, 29899501
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IEA
GO:0005912	Component	Adherens junction	ISS
GO:0005925	Component	Focal adhesion	IEA
GO:0005925	Component	Focal adhesion	ISS
GO:0005929	Component	Cilium	IBA
GO:0005929	Component	Cilium	IEA
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IDA	18458941
GO:0006816	Process	Calcium ion transport	IEA
GO:0006816	Process	Calcium ion transport	NAS	11025659
GO:0006874	Process	Intracellular calcium ion homeostasis	IDA	12724311
GO:0006874	Process	Intracellular calcium ion homeostasis	IEA
GO:0006884	Process	Cell volume homeostasis	TAS	12724311
GO:0006970	Process	Response to osmotic stress	IEA
GO:0006971	Process	Hypotonic response	IEA
GO:0007015	Process	Actin filament organization	IBA
GO:0007015	Process	Actin filament organization	IEA
GO:0007015	Process	Actin filament organization	ISS
GO:0007043	Process	Cell-cell junction assembly	IEA
GO:0007043	Process	Cell-cell junction assembly	ISS
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IDA	18458941
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007231	Process	Osmosensory signaling pathway	IBA
GO:0007231	Process	Osmosensory signaling pathway	IEA
GO:0007231	Process	Osmosensory signaling pathway	ISS
GO:0007231	Process	Osmosensory signaling pathway	TAS	12724311
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	ISS
GO:0008289	Function	Lipid binding	IEA
GO:0009612	Process	Response to mechanical stimulus	TAS	15753126
GO:0009986	Component	Cell surface	IEA
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010759	Process	Positive regulation of macrophage chemotaxis	IEA
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0010977	Process	Negative regulation of neuron projection development	ISS
GO:0015275	Function	Stretch-activated, monoatomic cation-selective, calcium channel activity	IMP	23136043
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11025659
GO:0016324	Component	Apical plasma membrane	IEA
GO:0019901	Function	Protein kinase binding	IEA
GO:0019901	Function	Protein kinase binding	IPI	12538589
GO:0030027	Component	Lamellipodium	IEA
GO:0030027	Component	Lamellipodium	ISS
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030036	Process	Actin cytoskeleton organization	ISS
GO:0030103	Process	Vasopressin secretion	IEA
GO:0030175	Component	Filopodium	IEA
GO:0030175	Component	Filopodium	ISS
GO:0030426	Component	Growth cone	IEA
GO:0030426	Component	Growth cone	ISS
GO:0030864	Component	Cortical actin cytoskeleton	IEA
GO:0030864	Component	Cortical actin cytoskeleton	ISS
GO:0031117	Process	Positive regulation of microtubule depolymerization	IEA
GO:0031117	Process	Positive regulation of microtubule depolymerization	ISS
GO:0032587	Component	Ruffle membrane	IEA
GO:0032587	Component	Ruffle membrane	ISS
GO:0032755	Process	Positive regulation of interleukin-6 production	IEA
GO:0032868	Process	Response to insulin	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034605	Process	Cellular response to heat	IEA
GO:0034605	Process	Cellular response to heat	ISS
GO:0042169	Function	SH2 domain binding	IEA
GO:0042169	Function	SH2 domain binding	ISS
GO:0042538	Process	Hyperosmotic salinity response	IEA
GO:0042593	Process	Glucose homeostasis	IEA
GO:0042802	Function	Identical protein binding	IPI	26146187
GO:0042995	Component	Cell projection	IEA
GO:0043014	Function	Alpha-tubulin binding	IEA
GO:0043014	Function	Alpha-tubulin binding	ISS
GO:0043117	Process	Positive regulation of vascular permeability	IEA
GO:0043117	Process	Positive regulation of vascular permeability	IMP	23136043
GO:0043622	Process	Cortical microtubule organization	IEA
GO:0043622	Process	Cortical microtubule organization	ISS
GO:0045989	Process	Positive regulation of striated muscle contraction	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IEA
GO:0046785	Process	Microtubule polymerization	IEA
GO:0046785	Process	Microtubule polymerization	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0047484	Process	Regulation of response to osmotic stress	IEA
GO:0048487	Function	Beta-tubulin binding	IEA
GO:0048487	Function	Beta-tubulin binding	ISS
GO:0050729	Process	Positive regulation of inflammatory response	IEA
GO:0050891	Process	Multicellular organismal-level water homeostasis	IEA
GO:0050891	Process	Multicellular organismal-level water homeostasis	IMP	23136043
GO:0051015	Function	Actin filament binding	IEA
GO:0051015	Function	Actin filament binding	ISS
GO:0055085	Process	Transmembrane transport	IEA
GO:0060351	Process	Cartilage development involved in endochondral bone morphogenesis	IMP	26249260
GO:0070161	Component	Anchoring junction	IEA
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IEA
GO:0070509	Process	Calcium ion import	IEA
GO:0070509	Process	Calcium ion import	ISS
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IMP	23136043
GO:0070588	Process	Calcium ion transmembrane transport	TAS
GO:0071470	Process	Cellular response to osmotic stress	IEA
GO:0071470	Process	Cellular response to osmotic stress	ISS
GO:0071476	Process	Cellular hypotonic response	IEA
GO:0071476	Process	Cellular hypotonic response	IMP	23136043
GO:0071476	Process	Cellular hypotonic response	ISS
GO:0071477	Process	Cellular hypotonic salinity response	IEA
GO:0071639	Process	Positive regulation of monocyte chemotactic protein-1 production	IEA
GO:0071642	Process	Positive regulation of macrophage inflammatory protein 1 alpha production	IEA
GO:0071651	Process	Positive regulation of chemokine (C-C motif) ligand 5 production	IEA
GO:0097009	Process	Energy homeostasis	IEA
GO:0097497	Process	Blood vessel endothelial cell delamination	IMP	23136043
GO:0098703	Process	Calcium ion import across plasma membrane	IBA
GO:1902656	Process	Calcium ion import into cytosol	IDA	29899501
GO:1902656	Process	Calcium ion import into cytosol	IEA
GO:1903444	Process	Negative regulation of brown fat cell differentiation	IEA
GO:1903715	Process	Regulation of aerobic respiration	IEA
GO:2000340	Process	Positive regulation of chemokine (C-X-C motif) ligand 1 production	IEA

Other IDs

• MIM: 605427
• HGNC: 18083
• e!Ensembl: ENSG00000111199

Protein

• UniProt ID: Q9HBA0
• Protein name: Transient receptor potential cation channel subfamily V member 4 (TrpV4) (Osm-9-like TRP channel 4) (OTRPC4) (Transient receptor potential protein 12) (TRP12) (Vanilloid receptor-like channel 2) (Vanilloid receptor-like protein 2) (VRL-2) (Vanilloid recep
• Protein function: Non-selective calcium permeant cation channel involved in osmotic sensitivity and mechanosensitivity (PubMed:16293632, PubMed:18695040, PubMed:18826956, PubMed:22526352, PubMed:23136043, PubMed:29899501). Activation by exposure to hypotonicity w
• PDB: 4DX1, 4DX2, 7AA5, 8FC7, 8FC8, 8FC9, 8FCA, 8FCB, 8JU5, 8JU6, 8JVI, 8JVJ, 8T1B, 8T1C, 8T1D, 8T1E, 8T1F
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00023	Ank	237 → 268	Ankyrin repeat	Repeat
  PF00520	Ion_trans	469 → 730	Ion transport protein	Family

• Tissue specificity: TISSUE SPECIFICITY: Found in the synoviocytes from patients with (RA) and without (CTR) rheumatoid arthritis (at protein level). {ECO:0000269|PubMed:19759329}.
• Sequence:

  MADSSEGPRAGPGEVAELPGDESGTPGGEAFPLSSLANLFEGEDGSLSPSPADASRPAGP
  GDGRPNLRMKFQGAFRKGVPNPIDLLESTLYESSVVPGPKKAPMDSLFDYGTYRHHSSDN
  KRWRKKIIEKQPQSPKAPAPQPPPILKVFNRPILFDIVSRGSTADLDGLLPFLLTHKKRL
  TDEEFREPSTGKTCLPKALLNLSNGRNDTIPVLLDIAERTGNMREFINSPFRDIYYRGQT
  ALHIAIERRCKHYVELLVAQGADVHAQARGRFFQPKDEGGYFYFGELPLSLAACTNQPHI
  VNYLTENPHKKADMRRQDSRGNTVLHALVAIADNTRENTKFVTKMYDLLLLKCARLFPDS
  NLEAVLNNDGLSPLMMAAKTGKIGIFQHIIRREVTDEDTRHLSRKFKDWAYGPVYSSLYD
  LSSLDTCGEEASVLEILVYNSKIENRHEMLAVEPINELLRDKWRKFGAVSFYINVVSYLC
  AMVIFTLTAYYQPLEGTPPYPYRTTVDYLRLAGEVITLFTGVLFFFTNIKDLFMKKCPGV
  NSLFIDGSFQLLYFIYSVLVIVSAALYLAGIEAYLAVMVFALVLGWMNALYFTRGLKLTG
  TYSIMIQKILFKDLFRFLLVYLLFMIGYASALVSLLNPCANMKVCNEDQTNCTVPTYPSC
  RDSETFSTFLLDLFKLTIGMGDLEMLSSTKYPVVFIILLVTYIILTFVLLLNMLIALMGE
  TVGQVSKESKHIWKLQWATTILDIERSFPVFLRKAFRSGEMVTVGKSSDGTPDRRWCFRV
  DEVNWSHWNQNLGIINEDPGKNETYQYYGFSHTVGRLRRDRWSSVVPRVVELNKNSNPDE
  VVVPLDSMGNPRCDGHQQGYPRKWRTDDAPL

• Sequence length: 871

Pathways

KEGG:

Cellular senescence
Inflammatory mediator regulation of TRP channels
Fluid shear stress and atherosclerosis

Reactome:

TRP channels

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
Auditory neuropathy	Likely pathogenic	rs1392028993	RCV003484471	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Brachyrachia (short spine dysplasia)	Pathogenic; Likely pathogenic	rs121912632, rs121912633, rs267607149	RCV000005280 RCV000005281 RCV001331193	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs121912633, rs267607144, rs267607145, rs387906904, rs387906905	RCV001172890 RCV000192243 RCV000192245 RCV001172888 RCV000856932	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease axonal type 2C	Likely pathogenic; Pathogenic	rs1889549195, rs763354006, rs746368269, rs515726153, rs515726154, rs515726162, rs387906905, rs2136466291, rs868185064, rs769107613, rs2136468103, rs2136413100, rs1289139464, rs121912632, rs121912633, rs77975504, rs121912637, rs267607143, rs267607144, rs267607145, rs267607146, rs2548728770, rs961707608, rs2548717189, rs267607148, rs267607149, rs387906324, rs387906902, rs387906904, rs1064795696, rs397514494, rs1890124015	RCV001313495 RCV001349395 RCV001386963 RCV001854531 RCV003505097 RCV003505098 RCV002036118 RCV002002352 RCV002005612 RCV001986871 RCV001972848 RCV001983529 RCV002226614 RCV003505079 RCV000545248 RCV000691603 RCV000707315 RCV000005291 RCV000005293 RCV000005294 RCV000005296 RCV002909907 RCV003611731 RCV003991824 RCV005089285 RCV000805229 RCV001851964 RCV001851965 RCV000023426 RCV000023429 RCV000023430 RCV000823337 RCV000032600 RCV000645554 RCV000645547 RCV001064018 RCV001197313	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Clubfoot	Likely pathogenic; Pathogenic	rs387906905	RCV000415397	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Connective tissue disorder	Likely pathogenic	rs121912635	RCV002278822	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal spinal muscular atrophy	Pathogenic	rs267607146	RCV000856933	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
EMG abnormality	Likely pathogenic; Pathogenic	rs387906905	RCV000415397	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial digital arthropathy-brachydactyly	Pathogenic	rs515726170, rs387907219, rs387907220	RCV000202455 RCV000029173 RCV000029174	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hereditary motor neuron disease	Pathogenic	rs267607146	RCV001027476	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lower limb amyotrophy	Likely pathogenic; Pathogenic	rs387906905	RCV000415397	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Metatropic dysplasia	Pathogenic; Likely pathogenic	rs515726153, rs515726154, rs515726163, rs2136430908, rs2136417904, rs2136475122, rs121912633, rs77975504, rs121912636, rs121912637, rs2548767534, rs267607147, rs267607149, rs1565868973, rs397514473, rs397514474, rs387906906, rs387906907, rs781358829	RCV001804841 RCV002279715 RCV000755170 RCV001806357 RCV002238712 RCV002238713 RCV003992145 RCV001618207 RCV000005286 RCV000005287 RCV003330372 RCV000005298 RCV000005299 RCV000005300 RCV000023424 RCV000735909 RCV000023427 RCV000023431 RCV000023432 RCV000023433 RCV001256207	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Multiple epiphyseal dysplasia	Likely pathogenic; Pathogenic	rs77975504	RCV005624676	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuromuscular disease	Pathogenic; Likely pathogenic	rs515726166, rs121912633, rs77975504, rs267607143, rs267607144, rs267607145, rs267607146, rs121912637, rs267607148, rs267607149, rs387906902, rs387906904, rs387906905, rs397514474, rs387906906, rs387906907, rs397514494	RCV000202488 RCV000202535 RCV000202560 RCV000202514 RCV000202467 RCV000202561 RCV000202537 RCV000202509 RCV000202563 RCV000202566 RCV000202508 RCV000202445 RCV000202476 RCV000202458 RCV000202544 RCV000202517 RCV000202485	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neuronopathy, distal hereditary motor, autosomal dominant	Likely pathogenic; Pathogenic	rs267607143, rs267607145, rs876661124, rs387906904	RCV000789585 RCV000789587 RCV000789593 RCV000789594	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, autosomal dominant 8	Likely pathogenic; Pathogenic	rs77975504, rs267607143, rs267607144, rs267607146, rs1341025285, rs387906904, rs397514494	RCV002243623 RCV000005289 RCV000005292 RCV000190885 RCV004566605 RCV000190886 RCV000190887	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Parastremmatic dwarfism	Likely pathogenic; Pathogenic	rs77975504, rs121912637	RCV000005283 RCV001253672	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Scapuloperoneal spinal muscular atrophy	Likely pathogenic; Pathogenic	rs267607143, rs267607145, rs267607146, rs267607149	RCV000005290 RCV000005295 RCV000033215 RCV001823100	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Skeletal dysplasia	Pathogenic; Likely pathogenic	rs515726153, rs515726154, rs515726162, rs515726163, rs515726166, rs515726172, rs121912632, rs121912633, rs77975504, rs121912634, rs121912636, rs121912637, rs267607147, rs267607148, rs267607149, rs387906324, rs267607150, rs387906902, rs397514473, rs387906904, rs397514474, rs387906906, rs387906907	RCV000202504 RCV000202564 RCV000202452 RCV000202495 RCV000202488 RCV000202451 RCV000202519 RCV000202464 RCV000202560 RCV000202481 RCV000202518 RCV000202554 RCV000202484 RCV000202509 RCV000202563 RCV000202566 RCV000202438 RCV000202448 RCV000202508 RCV000202521 RCV000202445 RCV000202458 RCV000202544 RCV000202517	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Skeletal dysplasia and progressive central nervous system degeneration, lethal	Likely pathogenic; Pathogenic	rs515726154	RCV001376047	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Spondyloepimetaphyseal dysplasia, Maroteaux type	Pathogenic; Likely pathogenic	rs515726166, rs121912637, rs267607149, rs387906324, rs267607150	RCV002279935 RCV000005288 RCV000005304 RCV000005306 RCV000023425	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylometaphyseal dysplasia, Kozlowski type	Likely pathogenic; Pathogenic	rs515726162, rs77975504, rs121912634, rs121912637, rs267607148, rs267607149, rs387906904	RCV004595924 RCV000005282 RCV000005284 RCV003388565 RCV000005302 RCV000005303 RCV001542600	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tip-toe gait	Likely pathogenic	rs1289139464	RCV003319508	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRPV4-Associated Disorders	Likely pathogenic; Pathogenic	rs267607143	RCV003335013	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRPV4-related bone disorder	Pathogenic; Likely pathogenic	rs767079858, rs267607144	RCV001795573 RCV003320352	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TRPV4-related disorder	Likely pathogenic; Pathogenic	rs2136413100, rs121912637, rs267607143, rs267607145, rs397514473, rs1064795536	RCV004553613 RCV005867724 RCV004547459 RCV001796956 RCV004549386 RCV005416274	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis type 5	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASEPTIC NECROSIS OF HEAD AND/OR NECK OF FEMUR	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT BRACHYOLMIA	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2C	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CONGENITAL BENIGN SPINAL MUSCULAR ATROPHY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT DISTAL HEREDITARY MOTOR NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AVASCULAR NECROSIS OF BONE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2	—	ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO ClinVar, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BONE DISEASES	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachyolmia	Likely benign	ClinVar GenCC	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
BRACHYOLMIA TYPE 3	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease axonal type 2X	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 2	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 4	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Charcot-Marie-Tooth disease, type I	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ANOMALY OF CARTILAGE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CLUBFOOT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital myopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONNECTIVE TISSUE DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIGITAL ARTHROPATHY-BRACHYDACTYLY, FAMILIAL	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal myopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL AVASCULAR NECROSIS OF FEMORAL HEAD	—	Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet Disgenet, GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glioma susceptibility 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERALGESIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mild short stature	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoepithelial tumor	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROMUSCULAR DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOCHONDRODYSPLASIAS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEONECROSIS OF MEDIAL FEMORAL CONDYLE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PULMONARY DISEASE, CHRONIC OBSTRUCTIVE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL DOMINANT	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sodium serum level quantitative trait locus 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylometaphyseal dysplasia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRPV4-associated skeletal dysplasias	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINATION DISORDERS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Abducens Nerve Palsy	Abducens palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acoustic Neuroma	Acoustic Neuroma	BEFREE	19066426		★☆☆☆☆ Found in Text Mining only
Acquired Kyphoscoliosis	Acquired Kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	28639721		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	11231025		★☆☆☆☆ Found in Text Mining only
Akinesia	Akinesia	BEFREE	21964829		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	21658220	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	29931225		★☆☆☆☆ Found in Text Mining only
Aplasia of muscle	Aplasia Of Muscle	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	27191895, 27706112, 28602913		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	19759329	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	25900305	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	BEFREE	21964829		★☆☆☆☆ Found in Text Mining only
Arthropathy	Arthropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	20639579, 28073835, 28523001, 30517707		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	22328087		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	27191895, 27706112, 28602913		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	28839241	Stimulate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant brachyolmia	Brachyolmia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant Charcot-Marie-Tooth disease type 2C	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant congenital benign spinal muscular atrophy	Distal spinal muscular atrophy, congenital nonprogressive	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1	Aseptic necrosis	ORPHANET_DG	27330106		★☆☆☆☆ Found in Text Mining only
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2	Avascular Necrosis Of Femoral Head	ORPHANET_DG	27330106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2	Avascular Necrosis Of Femoral Head	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Avascular necrosis of the capital femoral epiphysis	Avascular Necrosis Of The Capital Femoral Epiphysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone Disease	CTD_human_DG	21964574, 22187434		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone Disease	BEFREE	27330106		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases	Bone disease	Pubtator	27330106	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bone Diseases Developmental	Bone disease	Pubtator	28687525	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases, Developmental	Bone Disease	BEFREE	19232556, 28687525		★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Brachyolmia	Brachyolmia	BEFREE	20505684, 20577006, 20605796, 20676052, 22419508, 22791835, 24577120, 31387748		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brachyolmia	Brachyolmia	Pubtator	21658220, 40019039	Associate	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Brachyolmia Type 3	Brachyolmia	BEFREE	18587396, 19232556, 22791502, 23143559, 24644033, 24677493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachyolmia Type 3	Brachyolmia	UNIPROT_DG	18587396		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachyolmia Type 3	Brachyolmia	ORPHANET_DG	18587396		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachyolmia Type 3	Brachyolmia	Pubtator	18587396, 19232556, 21658220	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachyolmia Type 3	Brachyolmia	GENOMICS_ENGLAND_DG	20037588		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachyolmia Type 3	Brachyolmia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brachyolmia Type 3	Brachyolmia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brain Edema	Brain edema	Pubtator	33538957	Associate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	28597396, 30367945		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	27291497, 28530703, 28759041		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	21685934, 33322037, 37353484	Associate	★☆☆☆☆ Found in Text Mining only
Bulbospinal Neuronopathy	Bulbospinal Neuronopathy	CTD_human_DG	22187434		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24643128	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	35558077	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	28081185	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	28754452		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31664615		★☆☆☆☆ Found in Text Mining only
Cartilage Diseases	Cartilage disease	Pubtator	24559391	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Central nervous system demyelination	Central Nervous System Demyelination	BEFREE	30455633		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	29665111		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	12682323, 21288981, 26362287		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CTD_human_DG	22187434		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease, Type Ia (disorder)	Charcot-Marie-Tooth disease	CTD_human_DG	22187434		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease, Type Ib	Charcot-Marie-Tooth disease	CTD_human_DG	22187434		★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	20639579		★☆☆☆☆ Found in Text Mining only
Childhood-onset short-trunk short stature	Short-Trunk Short Stature	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	BEFREE	28599589		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	28143892		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	19279160, 20505684, 20639579		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	CTD_human_DG	21245013		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chronic sinusitis	Sinusitis	BEFREE	18284852		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29053877, 31836532		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	30243087	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	32455137	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	31189890		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	31836532		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	32186440, 38188686	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34814869, 38188686	Associate	★☆☆☆☆ Found in Text Mining only
Compression of spinal cord	Spinal cord compression	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	CLINVAR_DG	20037586, 20037588, 22702953, 24789864		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital kyphoscoliosis	Congenital kyphoscoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital pectus carinatum	Congenital Pectus Carinatum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	28523109, 31413810		★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	BEFREE	18284852		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	15489228, 28523001, 29126921		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	LHGDN	15489228		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic fibrosis	Pubtator	15489228	Associate	★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	BEFREE	20956320		★☆☆☆☆ Found in Text Mining only
Cystitis	Cystitis	Pubtator	33664402	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	CTD_human_DG	21964574		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	26632350, 30629441, 31055086, 31622206		★☆☆☆☆ Found in Text Mining only
Dementia, Vascular	Dementia	BEFREE	30721555		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	24143878	Associate	★☆☆☆☆ Found in Text Mining only
Derealization	Derealization	GENOMICS_ENGLAND_DG	22547884		★☆☆☆☆ Found in Text Mining only
Dermatitis, Allergic Contact	Dermatitis	BEFREE	28807414		★☆☆☆☆ Found in Text Mining only
Dermatologic disorders	Dermatologic Disorders	BEFREE	29293584, 29713744, 31645630		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	31048895, 31129158		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	17346947, 31048895, 31129158		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	36495765	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	23049542	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Neuralgia	Diabetic Neuralgia	BEFREE	31129158		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29026201		★☆☆☆☆ Found in Text Mining only
Digital Arthropathy-Brachydactyly, Familial	Digital Arthropathy-Brachydactyly	ORPHANET_DG	21964574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Digital Arthropathy-Brachydactyly, Familial	Digital Arthropathy-Brachydactyly	GENOMICS_ENGLAND_DG	21964574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Digital Arthropathy-Brachydactyly, Familial	Digital Arthropathy-Brachydactyly	UNIPROT_DG	21964574		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Digital Arthropathy-Brachydactyly, Familial	Digital Arthropathy-Brachydactyly	BEFREE	31248428		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Digital Arthropathy-Brachydactyly, Familial	Digital Arthropathy-Brachydactyly	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Digital Arthropathy-Brachydactyly, Familial	Digital Arthropathy-Brachydactyly	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal Spinal Muscular Atrophy	Distal Spinal Muscular Atrophy	BEFREE	12682323, 20505684, 21964829, 22526352, 31468327		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal Spinal Muscular Atrophy	Distal Spinal Muscular Atrophy	CTD_human_DG	22187434		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dwarfism	Dwarfism	BEFREE	21115951		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyschondroplasias	Dyschondroplasias	CTD_human_DG	18587396		★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11891693, 14755468, 1520078, 18587396, 19232556, 20037586, 20037587, 20037588, 20425821, 20460441, 20503319, 20577006, 21115951, 21288981, 21964574, 22791502, 22851605, 24677493, 25900305, 26249260, 27330106, 28898540, 4056805, 956253		★☆☆☆☆ Found in Text Mining only
Dyspepsia	Dysphasia	Pubtator	27687509	Associate	★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	33538957	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	30134548	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsies, Partial	Epilepsy	BEFREE	31641226		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	31299321, 31641226		★☆☆☆☆ Found in Text Mining only
Epilepsy, Temporal Lobe	Epilepsy	BEFREE	31097691, 31227687		★☆☆☆☆ Found in Text Mining only
Epiphyseal dysplasia	Epiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	30761248	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial avascular necrosis of femoral head	Avascular Necrosis Of Femoral Head	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial digital arthropathy-brachydactyly	Digital Arthropathy-Brachydactyly	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	24920677	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	27913210		★☆☆☆☆ Found in Text Mining only
Femur Head Necrosis	Femur Head Necrosis	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	25013893		★☆☆☆☆ Found in Text Mining only
Flexion contracture - elbow	Elbow flexion contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Functional Gastrointestinal Disorders	Functional Gastrointestinal Disorders	BEFREE	31770754		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	26233549		★☆☆☆☆ Found in Text Mining only
Gastrointestinal inflammation	Gastrointestinal inflammation	BEFREE	21726418		★☆☆☆☆ Found in Text Mining only
Gaucher Disease Perinatal Lethal	Gaucher disease	Pubtator	32319342	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	35563594	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	29928875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Growth Disorders	Growth disorder	Pubtator	21115951, 31808622	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory Neuropathies	Hereditary motor and sensory neuropathy	BEFREE	11231025, 12682323, 21964829, 22791502		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor and Sensory Neuropathy Type I	Hereditary motor and sensory neuropathy	CTD_human_DG	22187434		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor And Sensory Neuropathy Type IIC	Hereditary motor and sensory neuropathies	Pubtator	20037587, 20037588, 21115951	Associate	★☆☆☆☆ Found in Text Mining only
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)	Hereditary motor and sensory neuropathy	CLINVAR_DG	15668982, 19232556, 20037586, 20037587, 20037588, 20425821, 20460441, 20503319, 20577006, 21115951, 21288981, 21336783, 21454511, 21573172, 21658220, 22065612, 22419508, 22526352, 22675077, 22702953, 24319099, 24575025, 24789864, 24963089, 25900305, 26048687, 26110311, 26170305, 26249260, 26948711, 27066566, 27549087, 27751652		★☆☆☆☆ Found in Text Mining only
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)	Hereditary motor and sensory neuropathy	BEFREE	20037586, 20037587, 20505684, 31468327		★☆☆☆☆ Found in Text Mining only
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)	Hereditary motor and sensory neuropathy	UNIPROT_DG	20037586, 20037587, 20037588, 21115951, 21288981, 22702953, 25256292		★☆☆☆☆ Found in Text Mining only
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)	Hereditary motor and sensory neuropathy	GENOMICS_ENGLAND_DG	20037586, 22547884		★☆☆☆☆ Found in Text Mining only
HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC (disorder)	Hereditary motor and sensory neuropathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	CTD_human_DG	22187434		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	31468327, 9409358		★☆☆☆☆ Found in Text Mining only
Hereditary Motor Neuronopathy	Distal hereditary motor neuronopathy	CTD_human_DG	22187434		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	20037588	Associate	★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperalgesia	Hyperalgesia	Pubtator	26358221	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypercalcemia	Hypercalcemia	BEFREE	16403833, 21288981		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	30328329		★☆☆☆☆ Found in Text Mining only
Hyperopia	Hyperopia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypersomnia, Recurrent	Hypersomnia	GENOMICS_ENGLAND_DG	22547884		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	23049542	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27872234, 28143892, 28899928, 29109190, 29701904, 30118343, 30506941, 30721555, 31326379, 31693393		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	36810131	Associate	★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	39519277	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29388466, 31461316		★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary hypertension	Pulmonary Hypertension	BEFREE	24920677		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	30118343		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	18343379, 29053877, 30243087		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	LHGDN	18343379		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	30243087	Stimulate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	11231025		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral Disc Degeneration	BEFREE	29204735		★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	36583692	Associate	★☆☆☆☆ Found in Text Mining only
Irritable Bowel Syndrome	Irritable Bowel Syndrome	BEFREE	25911511, 30243087, 30629470		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28597396		★☆☆☆☆ Found in Text Mining only
Kallmann Syndrome	Kallmann syndrome	Pubtator	32529806	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	30988131		★☆☆☆☆ Found in Text Mining only
Legg-Calve-Perthes Disease	Legg-Calve-Perthes Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	29635900		★☆☆☆☆ Found in Text Mining only
Lung diseases	Lung Diseases	BEFREE	27497091, 28202366, 28523001		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	34669779	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	27291497, 28530703, 28759041		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30692637		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25867067, 26708603, 27291497, 28530703, 28951460, 31119368, 31189890, 31836532		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31189890		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	29293584, 30881453		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35456964, 36499486	Associate	★☆☆☆☆ Found in Text Mining only
Melnick-Needles Syndrome	Melnick-Needles Syndrome	CTD_human_DG	18587396		★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	19066426, 29436285		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	31119368		★☆☆☆☆ Found in Text Mining only
Mental Retardation	Mental retardation	BEFREE	11231025		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	28028935		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	25967713	Inhibit	★☆☆☆☆ Found in Text Mining only
Metatropic dwarfism	Metatropic Dwarfism	BEFREE	19232556, 20425821, 20503319, 20577006, 21964829, 22791502, 23143559, 24559391, 24644033, 26249260, 27530454, 27567651, 28414187, 31808622		★☆☆☆☆ Found in Text Mining only
Metatropic dwarfism	Metatropic Dwarfism	UNIPROT_DG	19232556, 20425821, 20577006, 22702953, 26249260		★☆☆☆☆ Found in Text Mining only
Metatropic dwarfism	Metatropic Dwarfism	CLINVAR_DG	19232556, 20425821, 20577006		★☆☆☆☆ Found in Text Mining only
Metatropic dwarfism	Metatropic Dwarfism	GENOMICS_ENGLAND_DG	19232556		★☆☆☆☆ Found in Text Mining only
Metatropic dwarfism	Metatropic Dwarfism	CTD_human_DG	20425821		★☆☆☆☆ Found in Text Mining only
Metatropic dwarfism	Metatropic Dwarfism	ORPHANET_DG	22791502		★☆☆☆☆ Found in Text Mining only
Metatropic dysplasia	Metatropic Dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Metatropic Dysplasia Type 1	Metatropic Dysplasia	CTD_human_DG	20425821		★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucopolysaccharidosis IV	Mucopolysaccharidosis	BEFREE	20503319, 28414187		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	11891693, 14755468, 1520078, 18587396, 19232556, 20037586, 20037587, 20037588, 20425821, 20460441, 20503319, 20577006, 21115951, 21288981, 21964574, 22791502, 22851605, 24677493, 25900305, 26249260, 27330106, 28898540, 4056805, 956253		★☆☆☆☆ Found in Text Mining only
Multiple Epiphyseal Dysplasia	Multiple Epiphyseal Dysplasia	CTD_human_DG	18587396		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Muscular Atrophy Spinal	Spinal muscular atrophy	Pubtator	20037587, 20037588, 20104247, 25900305	Associate	★☆☆☆☆ Found in Text Mining only
Myelopathic Muscular Atrophy	Myelopathic Muscular Atrophy	CTD_human_DG	22187434		★☆☆☆☆ Found in Text Mining only
Nasal Polyps	Nasal polyposis	BEFREE	18284852		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	25867067, 29957061, 30401632		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	25900305, 33685999, 34321341, 35170874	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	22791502		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	20037586	Associate	★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	12682323, 20505684, 28898540, 30230566		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular Diseases	Neuromuscular disease	Pubtator	30693671, 33685999, 37353484	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuromuscular Diseases	Neuromuscular Diseases	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuropathy	Neuropathy	BEFREE	21288981, 22187434, 22628388, 22702953, 24577120, 24789864, 24963089, 25900305, 26110311, 28898540, 29715474		★☆☆☆☆ Found in Text Mining only
Neuropathy, Painful	Neuropathy	BEFREE	31129158		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	27913210		★☆☆☆☆ Found in Text Mining only
Nonprogressive muscular atrophy	Muscular Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	25647731		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	27510430		★☆☆☆☆ Found in Text Mining only
Oculomotor Nerve Paralysis	Oculomotor nerve palsy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Oculopharyngeal Spinal Muscular Atrophy	Oculopharyngeal Spinal Muscular Atrophy	CTD_human_DG	22187434		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	26632350	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoarthritis of hip	Osteoarthritis Of Hip	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis of the small joints of the hand	Osteoarthritis Of The Hand	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthrosis Deformans	Osteoarthrosis Deformans	CTD_human_DG	21964574		★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	CTD_human_DG	18587396		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	BEFREE	21573172, 22419508, 22791502, 23143559, 24577120, 26170305, 28414187		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteogenesis Imperfecta	Osteogenesis imperfecta	Pubtator	32529806	Associate	★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta Levin type	Osteogenesis imperfecta	Pubtator	33685999	Associate	★☆☆☆☆ Found in Text Mining only
Osteonecrosis	Osteonecrosis	Pubtator	27330106	Associate	★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	18264976, 31829044		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	24084385, 30387123		★☆☆☆☆ Found in Text Mining only
Parastremmatic dwarfism	Parastremmatic Dwarfism	BEFREE	20503319, 20505684, 23143559		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parastremmatic dwarfism	Parastremmatic Dwarfism	ORPHANET_DG	20503319		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parastremmatic dwarfism	Parastremmatic Dwarfism	UNIPROT_DG	20503319		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parastremmatic dwarfism	Parastremmatic Dwarfism	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parastremmatic dwarfism	Parastremmatic Dwarfism	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parastremmatic dwarfism	Parastremmatic Dwarfism	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Parastremmatic dwarfism	Parastremmatic Dwarfism	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Partial Paralysis (Paresis) Vocal Cords	Partial Paralysis Vocal Cords	BEFREE	21115951, 21288981		★☆☆☆☆ Found in Text Mining only
Partial Paralysis (Paresis) Vocal Cords	Partial Paralysis Vocal Cords	HPO_DG			★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	31343743		★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	BEFREE	22617546, 24789864		★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	21336783, 27751652		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	20037587, 21964829, 22419508, 22791502, 28283888		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	20037587, 25900305, 27530454, 35806193	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	21964829, 22419508, 22791502, 28283888		★☆☆☆☆ Found in Text Mining only
Peroneal muscle atrophy	Peroneal muscle atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	23207579, 25503733		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	29553832		★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	33685999	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive distal muscular atrophy	Distal Muscular Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Progressive Muscular Atrophy	Progressive Muscular Atrophy	CTD_human_DG	22187434		★☆☆☆☆ Found in Text Mining only
Progressive Proximal Myelopathic Muscular Atrophy	Progressive Proximal Myelopathic Muscular Atrophy	CTD_human_DG	22187434		★☆☆☆☆ Found in Text Mining only
Pterygium	Pterygium	BEFREE	28849159		★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	29388466		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	34349187	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	20639579, 21245013	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	28073835		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	28143892		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	30988131		★☆☆☆☆ Found in Text Mining only
Respiration Disorders	Respiration Disorders	BEFREE	21245013		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory Tract Diseases	BEFREE	21245013		★☆☆☆☆ Found in Text Mining only
Respiratory Tract Diseases	Respiratory system infectious disease	Pubtator	21245013, 33081023	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Detachment	Retinal Detachment	BEFREE	30143574		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	29433476	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	31064977		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	28274876		★☆☆☆☆ Found in Text Mining only
Rosacea	Rosacea	Pubtator	22189789	Associate	★☆☆☆☆ Found in Text Mining only
Roussy-Levy Syndrome (disorder)	Roussy-Levy Syndrome	CTD_human_DG	22187434		★☆☆☆☆ Found in Text Mining only
Scapuloperoneal Form of Spinal Muscular Atrophy	Scapuloperoneal spinal muscular atrophy	BEFREE	12682323, 20037587, 22419508, 26948711		★☆☆☆☆ Found in Text Mining only
Scapuloperoneal Form of Spinal Muscular Atrophy	Scapuloperoneal spinal muscular atrophy	ORPHANET_DG	20037587		★☆☆☆☆ Found in Text Mining only
Scapuloperoneal Form of Spinal Muscular Atrophy	Scapuloperoneal spinal muscular atrophy	CTD_human_DG	20037587, 20037588, 22187434		★☆☆☆☆ Found in Text Mining only
Scapuloperoneal Form of Spinal Muscular Atrophy	Scapuloperoneal spinal muscular atrophy	UNIPROT_DG	20037587, 22702953		★☆☆☆☆ Found in Text Mining only
Scapuloperoneal Form of Spinal Muscular Atrophy	Scapuloperoneal spinal muscular atrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Scapuloperoneal Form of Spinal Muscular Atrophy	Scapuloperoneal spinal muscular atrophy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Scapuloperoneal spinal muscular atrophy	Scapuloperoneal spinal muscular atrophy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Schwartz-Jampel Syndrome	Schwartz-Jampel Syndrome	CTD_human_DG	18587396		★☆☆☆☆ Found in Text Mining only
Schwartz-Jampel Syndrome, Type 1	Chondrodystrophic myotonia	CTD_human_DG	18587396		★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	28249987		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG	20037586, 20037588, 22702953, 24789864		★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	22617546		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	BEFREE	12682323		★☆☆☆☆ Found in Text Mining only
Sensory neuropathy	Sensory neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	29974844, 29974850		★☆☆☆☆ Found in Text Mining only
Severe intellectual disability	Mental retardation	BEFREE	28898540		★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	BEFREE	21573172, 22419508, 22791502, 23143559, 24577120, 26170305		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Skeletal dysplasia	Skeletal Dysplasia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Skin carcinoma	Skin Carcinoma	BEFREE	24643128		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	24643128	Inhibit	★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	34199609	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Syndromes	Sleep apnea	Pubtator	21115951	Associate	★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	10098728	Associate	★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	20505684, 22628388, 22791502, 24963089, 27751652		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy	Spinal Muscular Atrophy	CTD_human_DG	22187434		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinal Muscular Atrophy	Spinal Muscular Atrophy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)	CONGENITAL NONPROGRESSIVE SPINAL MUSCULAR ATROPHY	UNIPROT_DG	20037588, 22526352, 22702953		★☆☆☆☆ Found in Text Mining only
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)	CONGENITAL NONPROGRESSIVE SPINAL MUSCULAR ATROPHY	ORPHANET_DG	22526352		★☆☆☆☆ Found in Text Mining only
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)	CONGENITAL NONPROGRESSIVE SPINAL MUSCULAR ATROPHY	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)	CONGENITAL NONPROGRESSIVE SPINAL MUSCULAR ATROPHY	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
SPINAL MUSCULAR ATROPHY, DISTAL, CONGENITAL NONPROGRESSIVE (disorder)	CONGENITAL NONPROGRESSIVE SPINAL MUSCULAR ATROPHY	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	BEFREE	12682323		★☆☆☆☆ Found in Text Mining only
Spondyloepimetaphyseal disorder	Spondyloepimetaphyseal dysplasia	BEFREE	22419508		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	CTD_human_DG	18587396		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	BEFREE	20505684		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia	Spondyloepiphyseal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Spondyloenchondrodysplasia	CTD_human_DG	18587396		★☆☆☆☆ Found in Text Mining only
Spondyloepiphyseal dysplasia, congenita	Spondyloepiphyseal dysplasia congenita	BEFREE	20505684		★☆☆☆☆ Found in Text Mining only
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE	Spondyloepiphyseal dysplasia	BEFREE	20503319		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE	Spondyloepiphyseal dysplasia	ORPHANET_DG	20503319		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondyloepiphyseal dysplasia, Maroteaux type	Spondyloepiphyseal dysplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE	Spondyloepiphyseal dysplasia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE	Spondyloepiphyseal dysplasia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE	Spondyloepiphyseal dysplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spondylometaphyseal dysplasia Kozlowski type	Spondylometaphyseal dysplasia	Pubtator	19232556, 21658220, 28687525, 36403799	Associate	★☆☆☆☆ Found in Text Mining only
Spondylometaphyseal dysplasia, Kozlowski type	Spondylometaphyseal Dysplasia	BEFREE	19232556, 20577006, 21658220, 22791502, 23143559, 28687525		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylometaphyseal dysplasia, Kozlowski type	Spondylometaphyseal Dysplasia	GENOMICS_ENGLAND_DG	19232556		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylometaphyseal dysplasia, Kozlowski type	Spondylometaphyseal Dysplasia	UNIPROT_DG	19232556, 20577006, 22702953		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylometaphyseal dysplasia, Kozlowski type	Spondylometaphyseal Dysplasia	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylometaphyseal dysplasia, Kozlowski type	Spondylometaphyseal Dysplasia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spondylometaphyseal dysplasia, Kozlowski type	Spondylometaphyseal Dysplasia	CTD_human_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	30761248		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	28081185	Stimulate	★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	BEFREE	31097691		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	27913210		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30692637		★☆☆☆☆ Found in Text Mining only
Strudwick syndrome	Strudwick Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	28249987		★☆☆☆☆ Found in Text Mining only
Thrombocytosis	Thrombocytosis	Pubtator	32319342	Associate	★☆☆☆☆ Found in Text Mining only
Trigeminal Neuralgia	Trigeminal neuralgia	BEFREE	31116130		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	29914124		★☆☆☆☆ Found in Text Mining only
Urination Disorders	Urination Disorders	CTD_human_DG	20956320		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Van Buchem disease	Van Buchem Disease	CTD_human_DG	18587396		★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	28606925		★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	CLINVAR_DG	20037586, 20037588, 22702953, 24789864		★☆☆☆☆ Found in Text Mining only
Vocal Cord Paralysis	Vocal Cord Paralysis	BEFREE	22526352		★☆☆☆☆ Found in Text Mining only