HDAC6 (histone deacetylase 6)

Gene

• Entrez ID: 10013
• Gene name: Histone deacetylase 6
• Gene symbol: HDAC6
• Synonyms (NCBI Gene): CPBHM, HD6, JM21, KDAC6, PPP1R90
• Chromosome: X
• Chromosome location: Xp11.23
• Summary: Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene b

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017204	hsa-miR-335-5p	Microarray	18185580
MIRT047316	hsa-miR-181a-5p	CLASH	23622248
MIRT052981	hsa-miR-22-3p	Luciferase reporter assay, qRT-PCR, Western blot	22375943
MIRT438461	hsa-miR-548m	Luciferase reporter assay	24216476
MIRT438461	hsa-miR-548m	Luciferase reporter assay	24216476
MIRT052981	hsa-miR-22-3p	Luciferase reporter assay, Western blot	28195408
MIRT052981	hsa-miR-22-3p	Luciferase reporter assay, Western blot	28195408
MIRT052981	hsa-miR-22-3p	Western blotting, Immunofluorescence, qRT-PCR	32985730
MIRT052981	hsa-miR-22-3p	Western blotting, qRT-PCR	32985730
MIRT755705	hsa-miR-34a-5p	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, Immunohistochemistry (IHC), Immunofluorescence, Flow cytometry	38059122
MIRT1042501	hsa-miR-1	CLIP-seq
MIRT1042502	hsa-miR-1913	CLIP-seq
MIRT1042503	hsa-miR-206	CLIP-seq
MIRT1042504	hsa-miR-22	CLIP-seq
MIRT1042505	hsa-miR-2392	CLIP-seq
MIRT1042506	hsa-miR-3160-3p	CLIP-seq
MIRT1042507	hsa-miR-324-3p	CLIP-seq
MIRT1042508	hsa-miR-3652	CLIP-seq
MIRT1042509	hsa-miR-3673	CLIP-seq
MIRT1042510	hsa-miR-3689a-3p	CLIP-seq
MIRT1042511	hsa-miR-3689c	CLIP-seq
MIRT1042512	hsa-miR-3975	CLIP-seq
MIRT1042513	hsa-miR-4252	CLIP-seq
MIRT1042514	hsa-miR-4260	CLIP-seq
MIRT1042515	hsa-miR-4313	CLIP-seq
MIRT1042516	hsa-miR-4430	CLIP-seq
MIRT1042517	hsa-miR-4438	CLIP-seq
MIRT1042518	hsa-miR-4487	CLIP-seq
MIRT1042519	hsa-miR-4728-5p	CLIP-seq
MIRT1042520	hsa-miR-5095	CLIP-seq
MIRT1042521	hsa-miR-548v	CLIP-seq
MIRT1042522	hsa-miR-556-5p	CLIP-seq
MIRT1042523	hsa-miR-558	CLIP-seq
MIRT1042524	hsa-miR-610	CLIP-seq
MIRT1042525	hsa-miR-613	CLIP-seq
MIRT2009001	hsa-miR-548l	CLIP-seq
MIRT1042502	hsa-miR-1913	CLIP-seq
MIRT1042504	hsa-miR-22	CLIP-seq
MIRT1042506	hsa-miR-3160-3p	CLIP-seq
MIRT1042507	hsa-miR-324-3p	CLIP-seq
MIRT1042513	hsa-miR-4252	CLIP-seq
MIRT1042514	hsa-miR-4260	CLIP-seq
MIRT1042515	hsa-miR-4313	CLIP-seq
MIRT1042518	hsa-miR-4487	CLIP-seq
MIRT1042523	hsa-miR-558	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000118	Component	Histone deacetylase complex	IDA	11948178
GO:0000118	Component	Histone deacetylase complex	IEA
GO:0000209	Process	Protein polyubiquitination	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	24413532
GO:0001222	Function	Transcription corepressor binding	IPI	12535528
GO:0001975	Process	Response to amphetamine	IEA
GO:0003779	Function	Actin binding	IEA
GO:0004407	Function	Histone deacetylase activity	IDA	10220385
GO:0004407	Function	Histone deacetylase activity	IEA
GO:0004407	Function	Histone deacetylase activity	IMP	23322205
GO:0005515	Function	Protein binding	IPI	16919237, 17604723, 17872950, 18356165, 19033385, 19036992, 19081074, 19167333, 19893491, 20029029, 20308065, 21220424, 21532619, 21847094, 21952047, 22193721, 22645275, 23084749, 24658140, 24687993, 25422469, 27556504, 29281743, 31980649, 32814053, 33961781
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	24687993, 26246421
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS	11861901
GO:0005737	Component	Cytoplasm	TAS	19457097
GO:0005771	Component	Multivesicular body	TAS	25548531
GO:0005813	Component	Centrosome	IDA	26246421
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005874	Component	Microtubule	IDA	12620231
GO:0005875	Component	Microtubule associated complex	IDA	19228685
GO:0005901	Component	Caveola	IDA	18356165
GO:0005929	Component	Cilium	IEA
GO:0006325	Process	Chromatin organization	IEA
GO:0006476	Process	Protein deacetylation	IDA	28516954
GO:0006511	Process	Ubiquitin-dependent protein catabolic process	IEA
GO:0006515	Process	Protein quality control for misfolded or incompletely synthesized proteins	IMP	14675537
GO:0006886	Process	Intracellular protein transport	IMP	16192271
GO:0006914	Process	Autophagy	IEA
GO:0006950	Process	Response to stress	IEA
GO:0007015	Process	Actin filament organization	IEA
GO:0007026	Process	Negative regulation of microtubule depolymerization	IEA
GO:0007173	Process	Epidermal growth factor receptor signaling pathway	IMP	18356165
GO:0008013	Function	Beta-catenin binding	IPI	18356165
GO:0008017	Function	Microtubule binding	IDA	19228685
GO:0008017	Function	Microtubule binding	IEA
GO:0008017	Function	Microtubule binding	ISS
GO:0008270	Function	Zinc ion binding	IEA
GO:0010506	Process	Regulation of autophagy	TAS	25548531
GO:0010634	Process	Positive regulation of epithelial cell migration	IMP	12024216
GO:0010727	Process	Negative regulation of hydrogen peroxide metabolic process	IMP	18606987
GO:0010821	Process	Regulation of mitochondrion organization	IEA
GO:0010977	Process	Negative regulation of neuron projection development	IEA
GO:0015630	Component	Microtubule cytoskeleton	IEA
GO:0016234	Component	Inclusion body	IDA	16192271
GO:0016235	Component	Aggresome	IDA	14675537
GO:0016235	Component	Aggresome	TAS	19457097
GO:0016236	Process	Macroautophagy	IEA
GO:0016241	Process	Regulation of macroautophagy	IMP	16192271
GO:0016740	Function	Transferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019213	Function	Deacetylase activity	IBA
GO:0019213	Function	Deacetylase activity	IEA
GO:0019896	Process	Axonal transport of mitochondrion	IEA
GO:0019896	Process	Axonal transport of mitochondrion	IGI	28105056
GO:0019899	Function	Enzyme binding	IPI	19228685
GO:0019899	Function	Enzyme binding	ISS	11861901
GO:0030182	Process	Neuron differentiation	IEA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	ISS
GO:0030425	Component	Dendrite	IEA
GO:0030425	Component	Dendrite	ISS
GO:0031252	Component	Cell leading edge	IDA	12024216
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IMP	23962722
GO:0031593	Function	Polyubiquitin modification-dependent protein binding	IDA	14675537
GO:0031625	Function	Ubiquitin protein ligase binding	IPI	21753002
GO:0031647	Process	Regulation of protein stability	IMP	23580651
GO:0031648	Process	Protein destabilization	IEA
GO:0032418	Process	Lysosome localization	IMP	16192271
GO:0032461	Process	Positive regulation of protein oligomerization	IEA
GO:0032461	Process	Positive regulation of protein oligomerization	IMP	23962722
GO:0032886	Process	Regulation of microtubule-based process	IEA
GO:0032984	Process	Protein-containing complex disassembly	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0033148	Process	Positive regulation of intracellular estrogen receptor signaling pathway	IMP	18316616
GO:0033558	Function	Protein lysine deacetylase activity	IDA	28516954, 31857589
GO:0033558	Function	Protein lysine deacetylase activity	IEA
GO:0033558	Function	Protein lysine deacetylase activity	IMP	18356165, 23962722
GO:0033558	Function	Protein lysine deacetylase activity	TAS	28386764
GO:0034605	Process	Cellular response to heat	TAS
GO:0035902	Process	Response to immobilization stress	IEA
GO:0035967	Process	Cellular response to topologically incorrect protein	IMP	16192271
GO:0035973	Process	Aggrephagy	IDA	17580304, 22017874, 31857589
GO:0036064	Component	Ciliary basal body	IDA	17604723, 26246421
GO:0036479	Function	Peroxidase inhibitor activity	IMP	18606987
GO:0042030	Function	ATPase inhibitor activity	IMP	15916966
GO:0042826	Function	Histone deacetylase binding	IPI	12620231
GO:0042903	Function	Tubulin deacetylase activity	EXP	12024216
GO:0042903	Function	Tubulin deacetylase activity	IDA	12620231, 19228685, 20308065
GO:0042903	Function	Tubulin deacetylase activity	IEA
GO:0042903	Function	Tubulin deacetylase activity	IMP	19457097
GO:0042903	Function	Tubulin deacetylase activity	ISS
GO:0042903	Function	Tubulin deacetylase activity	TAS	19457097
GO:0042995	Component	Cell projection	IEA
GO:0043005	Component	Neuron projection	IEA
GO:0043014	Function	Alpha-tubulin binding	IDA	19228685
GO:0043025	Component	Neuronal cell body	IEA
GO:0043130	Function	Ubiquitin binding	IEA
GO:0043131	Process	Erythrocyte enucleation	IEA
GO:0043162	Process	Ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043204	Component	Perikaryon	ISS
GO:0043242	Process	Negative regulation of protein-containing complex disassembly	IMP	15916966
GO:0045598	Process	Regulation of fat cell differentiation	IEA
GO:0045814	Process	Negative regulation of gene expression, epigenetic	IMP	24413532
GO:0045861	Process	Negative regulation of proteolysis	IMP	18356165
GO:0045892	Process	Negative regulation of DNA-templated transcription	ISS	11861901
GO:0046872	Function	Metal ion binding	IEA
GO:0047611	Function	Acetylspermidine deacetylase activity	IDA	28516954
GO:0048156	Function	Tau protein binding	IDA	18636984
GO:0048156	Function	Tau protein binding	IEA
GO:0048156	Function	Tau protein binding	ISS	19457097
GO:0048156	Function	Tau protein binding	NAS	28386764
GO:0048156	Function	Tau protein binding	TAS	19457097
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	12024216
GO:0048487	Function	Beta-tubulin binding	IEA
GO:0048668	Process	Collateral sprouting	IEA
GO:0048843	Process	Negative regulation of axon extension involved in axon guidance	IEA
GO:0050775	Process	Positive regulation of dendrite morphogenesis	IEA
GO:0051129	Process	Negative regulation of cellular component organization	IEA
GO:0051130	Process	Positive regulation of cellular component organization	IEA
GO:0051412	Process	Response to corticosterone	IEA
GO:0051646	Process	Mitochondrion localization	IEA
GO:0051787	Function	Misfolded protein binding	EXP	17785525
GO:0051788	Process	Response to misfolded protein	IMP	14675537
GO:0051879	Function	Hsp90 protein binding	IDA	15916966
GO:0051968	Process	Positive regulation of synaptic transmission, glutamatergic	IEA
GO:0060271	Process	Cilium assembly	TAS
GO:0060632	Process	Regulation of microtubule-based movement	IC	19228685
GO:0060765	Process	Regulation of androgen receptor signaling pathway	TAS	18852123
GO:0060997	Process	Dendritic spine morphogenesis	IEA
GO:0061523	Process	Cilium disassembly	IDA	26246421
GO:0061523	Process	Cilium disassembly	IMP	17604723
GO:0061734	Process	Type 2 mitophagy	IGI	20457763
GO:0065008	Process	Regulation of biological quality	IEA
GO:0070201	Process	Regulation of establishment of protein localization	IEA
GO:0070301	Process	Cellular response to hydrogen peroxide	IMP	18606987
GO:0070507	Process	Regulation of microtubule cytoskeleton organization	IEA
GO:0070840	Function	Dynein complex binding	IDA	14675537
GO:0070842	Process	Aggresome assembly	IEA
GO:0070842	Process	Aggresome assembly	IMP	14675537
GO:0070845	Process	Polyubiquitinated misfolded protein transport	IMP	14675537
GO:0071211	Process	Protein targeting to vacuole involved in autophagy	IDA	37802024
GO:0071218	Process	Cellular response to misfolded protein	IEA
GO:0071374	Process	Cellular response to parathyroid hormone stimulus	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0090042	Process	Tubulin deacetylation	IBA
GO:0090042	Process	Tubulin deacetylation	IDA	20308065, 23093407
GO:0090042	Process	Tubulin deacetylation	ISS
GO:0098732	Process	Macromolecule deacylation	IEA
GO:0106047	Process	Polyamine deacetylation	IDA	28516954
GO:0106048	Process	Spermidine deacetylation	IDA	28516954
GO:0120025	Component	Plasma membrane bounded cell projection	IEA
GO:0140694	Process	Membraneless organelle assembly	IDA	29343546, 29507397
GO:0141221	Function	Histone deacetylase activity, hydrolytic mechanism	IEA
GO:1900409	Process	Positive regulation of cellular response to oxidative stress	IEA
GO:1903146	Process	Regulation of autophagy of mitochondrion	TAS	25548531
GO:1904056	Process	Positive regulation of cholangiocyte proliferation	IEA
GO:1904115	Component	Axon cytoplasm	IEA
GO:1905091	Process	Positive regulation of type 2 mitophagy	IEA
GO:1905336	Process	Negative regulation of aggrephagy	IDA	31857589

Other IDs

• MIM: 300272
• HGNC: 14064
• e!Ensembl: ENSG00000094631

Protein

• UniProt ID: Q9UBN7
• Protein name: Protein deacetylase HDAC6 (EC 3.5.1.-) (E3 ubiquitin-protein ligase HDAC6) (EC 2.3.2.-) (Tubulin-lysine deacetylase HDAC6) (EC 3.5.1.-)
• Protein function: Deacetylates a wide range of non-histone substrates (PubMed:12024216, PubMed:18606987, PubMed:20308065, PubMed:24882211, PubMed:26246421, PubMed:30538141, PubMed:31857589, PubMed:30770470, PubMed:38534334, PubMed:39567688). Plays a central role
• PDB: 3C5K, 3GV4, 3PHD, 5B8D, 5EDU, 5KH3, 5KH7, 5KH9, 5WBN, 5WPB, 6CE6, 6CE8, 6CEA, 6CEC, 6CED, 6CEE, 6CEF, 7ZYU, 8G43, 8G44, 8G45
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00850	Hist_deacetyl	105 → 402	Histone deacetylase domain	Domain
  PF00850	Hist_deacetyl	500 → 798	Histone deacetylase domain	Domain
  PF02148	zf-UBP	1133 → 1195	Zn-finger in ubiquitin-hydrolases and other protein	Domain

• Sequence:

  MTSTGQDSTTTRQRRSRQNPQSPPQDSSVTSKRNIKKGAVPRSIPNLAEVKKKGKMKKLG
  QAMEEDLIVGLQGMDLNLEAEALAGTGLVLDEQLNEFHCLWDDSFPEGPERLHAIKEQLI
  QEGLLDRCVSFQARFAEKEELMLVHSLEYIDLMETTQYMNEGELRVLADTYDSVYLHPNS
  YSCACLASGSVLRLVDAVLGAEIRNGMAIIRPPGHHAQHSLMDGYCMFNHVAVAARYAQQ
  KHRIRRVLIVDWDVHHGQGTQFTFDQDPSVLYFSIHRYEQGRFWPHLKASNWSTTGFGQG
  QGYTINVPWNQVGMRDADYIAAFLHVLLPVALEFQPQLVLVAAGFDALQGDPKGEMAATP
  AGFAQLTHLLMGLAGGKLILSLEGGYNLRALAEGVSASLHTLLGDPCPMLESPGAPCRSA
  QASVSCALEALEPFWEVLVRSTETVERDNMEEDNVEESEEEGPWEPPVLPILTWPVLQSR
  TGLVYDQNMMNHCNLWDSHHPEVPQRILRIMCRLEELGLAGRCLTLTPRPATEAELLTCH
  SAEYVGHLRATEKMKTRELHRESSNFDSIYICPSTFACAQLATGAACRLVEAVLSGEVLN
  GAAVVRPPGHHAEQDAACGFCFFNSVAVAARHAQTISGHALRILIVDWDVHHGNGTQHMF
  EDDPSVLYVSLHRYDHGTFFPMGDEGASSQIGRAAGTGFTVNVAWNGPRMGDADYLAAWH
  RLVLPIAYEFNPELVLVSAGFDAARGDPLGGCQVSPEGYAHLTHLLMGLASGRIILILEG
  GYNLTSISESMAACTRSLLGDPPPLLTLPRPPLSGALASITETIQVHRRYWRSLRVMKVE
  DREGPSSSKLVTKKAPQPAKPRLAERMTTREKKVLEAGMGKVTSASFGEESTPGQTNSET
  AVVALTQDQPSEAATGGATLAQTISEAAIGGAMLGQTTSEEAVGGATPDQTTSEETVGGA
  ILDQTTSEDAVGGATLGQTTSEEAVGGATLAQTTSEAAMEGATLDQTTSEEAPGGTELIQ
  TPLASSTDHQTPPTSPVQGTTPQISPSTLIGSLRTLELGSESQGASESQAPGEENLLGEA
  AGGQDMADSMLMQGSRGLTDQAIFYAVTPLPWCPHLVAVCPIPAAGLDVTQPCGDCGTIQ
  ENWVCLSCYQVYCGRYINGHMLQHHGNSGHPLVLSYIDLSAWCYYCQAYVHHQALLDVKN
  IAHQNKFGEDMPHPH

• Sequence length: 1215

Pathways

KEGG:

Neutrophil extracellular trap formation
Amyotrophic lateral sclerosis
Alcoholism
Viral carcinogenesis

Reactome:

Constitutive Signaling by NOTCH1 PEST Domain Mutants
Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
HSF1 activation
Notch-HLH transcription pathway
Cilium Assembly
Transcriptional regulation by RUNX2
Aggrephagy

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
X-linked dominant chondrodysplasia, Chassaing-Lacombe type	Likely pathogenic; Pathogenic	rs2519445322, rs2519366970, rs398122390	RCV003315278 RCV004584266 RCV000055614	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Abnormality of neuronal migration	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HDAC6-related disorder	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MELANOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOSARCOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
X-LINKED DOMINANT CHONDRODYSPLASIA CHASSAING LACOMBE TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Achondroplasia	Achondroplasia	BEFREE	27506979		★☆☆☆☆ Found in Text Mining only
Acute leukemia	Leukemia	BEFREE	30594243		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	29197621		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	27221381		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	30224636		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	30345732		★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	27993968, 29123411, 29135973, 29876933		★☆☆☆☆ Found in Text Mining only
Adult Hodgkin Lymphoma	Hodgkin Lymphoma	BEFREE	20880107		★☆☆☆☆ Found in Text Mining only
Alexander Disease	Alexander disease	Pubtator	23634874	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	18636984, 32638097, 37990786	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	23580651, 25720411		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	29021520, 32638097, 33891869, 40333935	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31500290		★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	30579537		★☆☆☆☆ Found in Text Mining only
Aortic Valve Calcification of	Aortic valve disease	Pubtator	30579537	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	30224543		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	30579537		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	30579537	Inhibit	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28188215		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23632129, 27457515	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34732304	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	12153977, 28811599		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28188215		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	23169495	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	31710483		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	19386607, 24216476		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	22089141, 29423038		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15501975, 19372552, 23792097, 24903226, 26119938, 27358110, 28529458, 28855742, 29113288, 29180246, 29317150, 29980788, 30206202, 30217455, 31537904		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	19383825, 19744931, 28855742, 32044386	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	28599312, 32833118, 35955780	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	23402884, 35977926	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	22089141, 29423038		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	18602369, 30525585		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25313256, 27506904	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	28128740	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	28752851, 31311810		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	30315806		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26329135		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	32985730	Associate	★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar medulloblastoma	Cerebellar medulloblastoma	BEFREE	28468311		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30981804, 30999900, 31264264		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28044941, 29716651, 30379969, 30672410		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	28044941, 29716651, 30379969, 30672410		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	26599234, 27957719, 29415205, 29520015, 31415174		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth disease, Type 2D	Charcot-Marie-Tooth disease	BEFREE	29520015		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	23370327, 29406621		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	29406621	Associate	★☆☆☆☆ Found in Text Mining only
CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA	Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	GENOMICS_ENGLAND_DG	20181727, 27545680		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA	Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	ORPHANET_DG	20181727		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA	Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY, HYDROCEPHALY, AND MICROPHTHALMIA	Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chondrosarcoma	Chondrosarcoma	BEFREE	28586053		★☆☆☆☆ Found in Text Mining only
Chordoma	Chordoma	Pubtator	23893747	Associate	★☆☆☆☆ Found in Text Mining only
Choroid Plexus Carcinoma	Choroid Plexus Carcinoma	BEFREE	31072216		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29449811		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	30425065		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	31750881		★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	28523102		★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome, Type II	Cockayne Syndrome	BEFREE	30158153		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognitive disorder	BEFREE	23184605, 24844691, 31571096		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	27827303, 28321036		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	26848526, 31118659		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	30541610, 30804456, 31652644		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	28599312, 32711442, 35247921, 36122629, 36270986	Associate	★☆☆☆☆ Found in Text Mining only
Congenital contractural arachnodactyly	Congenital contractural arachnodactyly	Pubtator	21750953	Associate	★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	30626801		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28128740		★☆☆☆☆ Found in Text Mining only
CRANIOSYNOSTOSIS, TYPE 2	Craniosynostosis	BEFREE	30158153		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	17709525		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	26092729, 28623308, 31311988		★☆☆☆☆ Found in Text Mining only
Defect of skull ossification	Defect Of Skull Ossification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31548177		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	22328923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	29463911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	BEFREE	31778773		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29104476, 30320895		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	25239935, 27993968, 29123411, 29135973, 29876933, 29966970		★☆☆☆☆ Found in Text Mining only
Dissection of aorta	Aortic dissection	BEFREE	30925865		★☆☆☆☆ Found in Text Mining only
Encephalitis	Encephalitis	BEFREE	31124385		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32107418	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	29665050		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	29665050		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	29665050, 30779074, 30961474	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23621219, 29665050, 30779074	Associate	★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	21421902		★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	30511829		★☆☆☆☆ Found in Text Mining only
Frontal bossing	Frontal bossing	HPO_DG			★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	29427610		★☆☆☆☆ Found in Text Mining only
Gastritis, Atrophic	Gastritis	BEFREE	28700998		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30453928		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	29384425		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	21508384, 26150340, 27267806, 28342984, 28735518, 28915616, 30864703, 30885763, 31390677, 31810938		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	26150340	Stimulate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	28735518, 32328646, 35757013	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	21508384, 26150340, 27267806, 28342984, 28735518, 28915616, 30864703, 30885763, 31390677, 31810938		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	20008322, 25791281, 26524593, 32328646, 37528157	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	26524593, 29222038, 29463911, 30885763, 31390677		★☆☆☆☆ Found in Text Mining only
Gliosarcoma	Gliosarcoma	Pubtator	35757013	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	33896334	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	30622143	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	30626801		★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	30096875, 31652644		★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	30407786		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	28700998		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	20880107		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	21677773		★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperkeratosis	Hyperkeratosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28674407, 30734467, 31125601		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	30385847, 30787326, 35840042	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	35977926	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28674407		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29045477		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	29896294		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	23184605, 24844691, 29613911, 30270813, 31571096		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27827303		★☆☆☆☆ Found in Text Mining only
Inflammatory Breast Carcinoma	Breast Cancer	BEFREE	26643555		★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28052874, 30981804, 30999900, 31667951		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	29449811, 30134806		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	33896334, 36552715, 37429230	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28052874, 29358506, 29632491, 30134806, 31639165		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	18591380, 21359182, 22047054	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	29643474		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	21359182, 22047054, 22096027, 23167276, 29499113	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	22096027, 29940115		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	22392728, 22766642, 23402884, 26086159, 30546442, 30991448, 31228075, 31539182, 31741408		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	29112935, 31244662, 31634464		★☆☆☆☆ Found in Text Mining only
Long QT Syndrome	Long qt syndrome	Pubtator	35840042	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25946558, 26698121, 27534532, 33162791, 36639650	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	28245046, 28876451, 31708928		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	28245046, 28876451, 31708928		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	26461065, 28245046, 28876451, 30470828, 31708928		★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	28245046, 28876451		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	28245046, 28876451, 31708928		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	20880107, 24216476, 27993968, 29876933		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	28315173, 32394008	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	30693983		★☆☆☆☆ Found in Text Mining only
Lymphoma, Large-Cell, Follicular	Lymphoma	BEFREE	30693983		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	25239935, 30693983		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	25239935, 30693983		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	LHGDN	18671804		★☆☆☆☆ Found in Text Mining only
Lymphoma, T-Cell, Cutaneous	Lymphoma	BEFREE	27422033		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative Disorder	BEFREE	30096875		★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Malignant lymphoma, lymphocytic, intermediate differentiation	BEFREE	30664664		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15501975, 19372552, 23792097, 24903226, 26119938, 27358110, 28529458, 28855742, 29113288, 29180246, 29317150, 29980788, 30206202, 30217455, 31537904		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	29665050		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	22392728		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18602369, 30525585		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	CTD_human_DG	19010849		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	28737768, 28752851, 31311810		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	30546469		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	24763052		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	29180246, 30224543, 31135075		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	25111897, 28700998, 29563065, 30588008		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of thyroid	Thyroid cancer	BEFREE	31395086		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	22089141, 29423038		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18602369, 21368888, 23084749, 23698468, 23723075, 24618845, 25111897, 25482492, 25482939, 25687470, 25774669, 26775640, 27165822, 27221381, 27827303, 28035401, 28053023, 28153791, 28599312, 28829415, 29150330, 29203661, 29259132, 29358506, 29500130, 29665050, 29760044, 29775292, 29917295, 30028995, 30096875, 30176876, 30217455, 30251407, 30315806, 30379969, 30407786, 30499393, 30546442, 30558483, 30597327, 30613344, 30632697, 30672410, 30694564, 30787326, 30972173, 30992475, 31072216, 31118659, 31390677, 31413795, 31421440, 31606087, 31710483, 31793776, 31810938		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	29716651, 30379969		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	26848526, 31118659		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15501975, 15806142, 18413721		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	20970878, 22902175, 29980788		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	24216476, 25239935, 30664664		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	21562571, 25774669, 26775640, 28035401, 30043566, 30728070, 31421440		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	21562571, 27502397, 30728070, 37096557	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
melanoma	Melanoma	CTD_human_DG	22535842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Melanoma	Pubtator	25774669	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	PSYGENET_DG	19767015, 22328923		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	29463911		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Metaphyseal chondrodysplasia	Metaphyseal Chondrodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	28452069		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	29383752		★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	29463911		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	23634874		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	22262760, 25482492, 25709080, 27884726, 28053023, 28092474, 29113288, 29304284, 29487385, 29741882, 30782785, 30987296, 31015208, 31271281		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	22384180, 25482492, 25978432, 32350373	Associate	★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	31750881		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30626801		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	29522754		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	39174882	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	15501975, 16773191, 18794144, 19855091, 20880107, 22392728, 22957056, 23084749, 23370327, 23873102, 24903226, 25482939, 25962939, 26502922, 26775640, 28125812, 28213282, 28599312, 28668087, 28866885, 29423038, 29643474, 29665050, 29760044, 29876933, 29980788, 30176876, 30270813, 30315806, 30525585, 30546442, 30594243, 30694564, 30782785, 30788349, 30804456, 30991448, 30992475, 31118659, 31311810, 31421440		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	28125812		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	LHGDN	12792815		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	30784262, 30935091		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21847364, 25482939, 29947893, 31835389		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	21847364, 25482939	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	18636984, 27404291, 32205467, 33694180, 35476995, 40333935	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	17912024, 19036992, 21377170, 23579074, 28215142, 28241840, 28823893, 29048427, 29133060, 29358506, 29844403, 30360671, 30453928, 30499393, 30597327, 30613344, 31251981, 31413795, 31421440, 31793776		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	29520015, 31356453		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	29522754		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22957056, 26388610, 27090797, 30084806, 30525585		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	26329135		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	30102568		★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	15806142		★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	30385847	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	30385847	Inhibit	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	30273544, 30430228		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian clear cell carcinoma	Ovarian Carcinoma	BEFREE	30787326		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	CTD_human_DG	19010849		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	28752851, 31311810		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	19010849, 30787326, 35955780, 39513923	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	30546469		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	26502922	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	28823893, 30572013		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	32205467	Associate	★☆☆☆☆ Found in Text Mining only
Periodontal Diseases	Periodontal Diseases	BEFREE	28195408		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	22575637, 28267067, 29197621, 29415205, 30360671, 31356453		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	28267067, 29415205, 31356453		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	29179471		★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal fibrosis	Pubtator	32862739	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	32862739	Stimulate	★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	30345732		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney Diseases	Polycystic kidney disease	BEFREE	27165822, 28747357, 28887310, 29366679		★☆☆☆☆ Found in Text Mining only
Polycystic Kidney, Autosomal Dominant	Polycystic kidney disease	BEFREE	27165822, 28747357, 28887310, 30134806		★☆☆☆☆ Found in Text Mining only
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy	Pubtator	24886140	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic liver disease	Polycystic liver disease	BEFREE	29366679		★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	29197621		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	21806350		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	29180246, 30224543, 31135075, 31421440		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	24023871, 26112958, 29383752, 32264916, 37143720, 40022828	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	24763052		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	28674407		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29045477		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	28128740		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	25209898, 31415174		★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett syndrome	Pubtator	29730163	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyolysis	Rhabdomyolysis	Pubtator	36552715	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	25766331		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	33199827	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	27623077		★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	28052874, 30047002, 31268348		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	18794144		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29760044		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16773191		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23621219, 29665050, 30050135, 30519093, 30779074		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	27369083, 32961679, 35732647	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	25111897, 28700998, 29563065, 30588008		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	28222070	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	34232196	Inhibit	★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	23487739		★☆☆☆☆ Found in Text Mining only
Thanatophoric dysplasia, type 2	Thanatophoric Dysplasia	BEFREE	27506979		★☆☆☆☆ Found in Text Mining only
Thrombocythemia, Essential	Thrombocythemia	BEFREE	21806350		★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	31395086		★☆☆☆☆ Found in Text Mining only
Thyroid Diseases	Thyroid disease	Pubtator	23873102	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	BEFREE	31395086		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	31395086	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	28529458, 30867138		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33523897, 40288122	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	36810912	Associate	★☆☆☆☆ Found in Text Mining only
Urothelial Carcinoma	Urothelial Carcinoma	BEFREE	28078999		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	22994762, 29716651, 32833118	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	21421902		★☆☆☆☆ Found in Text Mining only
Waardenburg Syndrome Type 2D	Waardenburg syndrome	Pubtator	34958183	Associate	★☆☆☆☆ Found in Text Mining only
X-linked dominant chondrodysplasia, Chassaing-Lacombe type	Chondrodysplasia, X-Linked	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)