HSPB1 (heat shock protein family B (small) member 1)

Gene

• Entrez ID: 3315
• Gene name: Heat shock protein family B (small) member 1
• Gene symbol: HSPB1
• Synonyms (NCBI Gene): CMT2F, HEL-S-102, HMN2B, HMND3, HS.76067, HSP27, HSP28, Hsp25, SRP27
• Chromosome: 7
• Chromosome location: 7q11.23
• Summary: This gene encodes a member of the small heat shock protein (HSP20) family of proteins. In response to environmental stress, the encoded protein translocates from the cytoplasm to the nucleus and functions as a molecular chaperone that promotes the correct

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1049324	G>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs28937568	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs28937569	C>T	Pathogenic	Missense variant, coding sequence variant
rs28939680	C>A,G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs28939681	C>T	Pathogenic	Missense variant, coding sequence variant
rs29001571	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs104894020	C>T	Pathogenic	Missense variant, coding sequence variant
rs121909112	C>G	Pathogenic	Missense variant, coding sequence variant
rs121909113	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs150110356	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs367662394	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs375244209	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs557327165	C>G,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs558882005	A>G	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs587781250	G>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs770272088	G>A,C,T	Pathogenic, uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs774585320	C>A,G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs777201941	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs780878780	C>A,G,T	Likely-pathogenic	Coding sequence variant, missense variant, synonymous variant
rs863225022	G>A,C,T	Uncertain-significance, pathogenic-likely-pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs863225023	C>T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, stop gained
rs1060503021	GC>CT	Likely-pathogenic	Stop gained, coding sequence variant
rs1064795077	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1064796370	->C	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1422978230	C>G,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs1554614648	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1554614680	A>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, frameshift variant
rs1563651698	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1583964560	->GCGCCCT	Pathogenic	Coding sequence variant, frameshift variant
rs1583966508	A>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1056380	hsa-miR-1273g	CLIP-seq
MIRT1056381	hsa-miR-1908	CLIP-seq
MIRT1056382	hsa-miR-1909	CLIP-seq
MIRT1056383	hsa-miR-214	CLIP-seq
MIRT1056384	hsa-miR-3133	CLIP-seq
MIRT1056385	hsa-miR-3545-3p	CLIP-seq
MIRT1056386	hsa-miR-3612	CLIP-seq
MIRT1056387	hsa-miR-3619-5p	CLIP-seq
MIRT1056388	hsa-miR-3945	CLIP-seq
MIRT1056389	hsa-miR-4253	CLIP-seq
MIRT1056390	hsa-miR-4467	CLIP-seq
MIRT1056391	hsa-miR-4651	CLIP-seq
MIRT1056392	hsa-miR-4676-5p	CLIP-seq
MIRT1056393	hsa-miR-4723-5p	CLIP-seq
MIRT1056394	hsa-miR-539	CLIP-seq
MIRT1056395	hsa-miR-541	CLIP-seq
MIRT1056396	hsa-miR-552	CLIP-seq
MIRT1056397	hsa-miR-575	CLIP-seq
MIRT1056398	hsa-miR-577	CLIP-seq
MIRT1056399	hsa-miR-580	CLIP-seq
MIRT1056400	hsa-miR-608	CLIP-seq
MIRT1056401	hsa-miR-650	CLIP-seq
MIRT1056402	hsa-miR-654-5p	CLIP-seq
MIRT1056403	hsa-miR-663	CLIP-seq
MIRT1056404	hsa-miR-761	CLIP-seq
MIRT1056405	hsa-miR-876-3p	CLIP-seq
MIRT1056382	hsa-miR-1909	CLIP-seq
MIRT1056383	hsa-miR-214	CLIP-seq
MIRT1056387	hsa-miR-3619-5p	CLIP-seq
MIRT1056388	hsa-miR-3945	CLIP-seq
MIRT1056389	hsa-miR-4253	CLIP-seq
MIRT1056390	hsa-miR-4467	CLIP-seq
MIRT1056391	hsa-miR-4651	CLIP-seq
MIRT1056392	hsa-miR-4676-5p	CLIP-seq
MIRT1056395	hsa-miR-541	CLIP-seq
MIRT1056397	hsa-miR-575	CLIP-seq
MIRT1056400	hsa-miR-608	CLIP-seq
MIRT1056402	hsa-miR-654-5p	CLIP-seq
MIRT1056404	hsa-miR-761	CLIP-seq
MIRT1056380	hsa-miR-1273g	CLIP-seq
MIRT1056381	hsa-miR-1908	CLIP-seq
MIRT1056382	hsa-miR-1909	CLIP-seq
MIRT1056383	hsa-miR-214	CLIP-seq
MIRT1056385	hsa-miR-3545-3p	CLIP-seq
MIRT1056386	hsa-miR-3612	CLIP-seq
MIRT1056387	hsa-miR-3619-5p	CLIP-seq
MIRT1056388	hsa-miR-3945	CLIP-seq
MIRT1056389	hsa-miR-4253	CLIP-seq
MIRT1056390	hsa-miR-4467	CLIP-seq
MIRT1056391	hsa-miR-4651	CLIP-seq
MIRT1056392	hsa-miR-4676-5p	CLIP-seq
MIRT1056393	hsa-miR-4723-5p	CLIP-seq
MIRT1056394	hsa-miR-539	CLIP-seq
MIRT1056395	hsa-miR-541	CLIP-seq
MIRT1056396	hsa-miR-552	CLIP-seq
MIRT1056397	hsa-miR-575	CLIP-seq
MIRT1056398	hsa-miR-577	CLIP-seq
MIRT1056399	hsa-miR-580	CLIP-seq
MIRT1056400	hsa-miR-608	CLIP-seq
MIRT1056401	hsa-miR-650	CLIP-seq
MIRT1056402	hsa-miR-654-5p	CLIP-seq
MIRT1056403	hsa-miR-663	CLIP-seq
MIRT1056404	hsa-miR-761	CLIP-seq
MIRT1056381	hsa-miR-1908	CLIP-seq
MIRT1056382	hsa-miR-1909	CLIP-seq
MIRT1056383	hsa-miR-214	CLIP-seq
MIRT1056384	hsa-miR-3133	CLIP-seq
MIRT1056386	hsa-miR-3612	CLIP-seq
MIRT1056387	hsa-miR-3619-5p	CLIP-seq
MIRT1056388	hsa-miR-3945	CLIP-seq
MIRT1056389	hsa-miR-4253	CLIP-seq
MIRT1056390	hsa-miR-4467	CLIP-seq
MIRT1056391	hsa-miR-4651	CLIP-seq
MIRT1056392	hsa-miR-4676-5p	CLIP-seq
MIRT1056393	hsa-miR-4723-5p	CLIP-seq
MIRT1056395	hsa-miR-541	CLIP-seq
MIRT1056396	hsa-miR-552	CLIP-seq
MIRT1056397	hsa-miR-575	CLIP-seq
MIRT1056398	hsa-miR-577	CLIP-seq
MIRT1056400	hsa-miR-608	CLIP-seq
MIRT1056401	hsa-miR-650	CLIP-seq
MIRT1056402	hsa-miR-654-5p	CLIP-seq
MIRT1056403	hsa-miR-663	CLIP-seq
MIRT1056404	hsa-miR-761	CLIP-seq
MIRT1056381	hsa-miR-1908	CLIP-seq
MIRT1056382	hsa-miR-1909	CLIP-seq
MIRT1056383	hsa-miR-214	CLIP-seq
MIRT1056386	hsa-miR-3612	CLIP-seq
MIRT1056387	hsa-miR-3619-5p	CLIP-seq
MIRT1056388	hsa-miR-3945	CLIP-seq
MIRT1056389	hsa-miR-4253	CLIP-seq
MIRT1056390	hsa-miR-4467	CLIP-seq
MIRT1056391	hsa-miR-4651	CLIP-seq
MIRT1056392	hsa-miR-4676-5p	CLIP-seq
MIRT1056393	hsa-miR-4723-5p	CLIP-seq
MIRT1056395	hsa-miR-541	CLIP-seq
MIRT1056397	hsa-miR-575	CLIP-seq
MIRT1056400	hsa-miR-608	CLIP-seq
MIRT1056401	hsa-miR-650	CLIP-seq
MIRT1056402	hsa-miR-654-5p	CLIP-seq
MIRT1056403	hsa-miR-663	CLIP-seq
MIRT1056404	hsa-miR-761	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ESR1	Activation	10960840
STAT3	Activation	14715258

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000502	Component	Proteasome complex	ISS
GO:0001533	Component	Cornified envelope	IEA
GO:0001932	Process	Regulation of protein phosphorylation	IMP	23728742
GO:0003723	Function	RNA binding	HDA	22658674
GO:0005080	Function	Protein kinase C binding	IEA
GO:0005080	Function	Protein kinase C binding	ISS
GO:0005515	Function	Protein binding	IPI	11003656, 12601044, 14594798, 15161933, 16169070, 17184779, 17342744, 18330356, 20467437, 20618440, 21157431, 21575178, 22365833, 23188086, 23948568, 25036637, 25241761, 25277244, 26496610, 28514442, 32814053, 33961781, 37776851
GO:0005615	Component	Extracellular space	HDA	22664934, 23580065
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19464326
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	19464326, 28144995
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	10859165, 16130169
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005856	Component	Cytoskeleton	TAS	16130169
GO:0005886	Component	Plasma membrane	IEA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006446	Process	Regulation of translational initiation	TAS	10859165
GO:0006457	Process	Protein folding	IMP	20178975, 23948568
GO:0006986	Process	Response to unfolded protein	NAS	1560006
GO:0006986	Process	Response to unfolded protein	TAS	10859165
GO:0008426	Function	Protein kinase C inhibitor activity	IEA
GO:0008426	Function	Protein kinase C inhibitor activity	ISS
GO:0009408	Process	Response to heat	IBA
GO:0009615	Process	Response to virus	IEP	16548883
GO:0010506	Process	Regulation of autophagy	NAS	25962073
GO:0019901	Function	Protein kinase binding	IPI	8774846
GO:0030018	Component	Z disc	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	IEA
GO:0032731	Process	Positive regulation of interleukin-1 beta production	ISS
GO:0032760	Process	Positive regulation of tumor necrosis factor production	IEA
GO:0032760	Process	Positive regulation of tumor necrosis factor production	ISS
GO:0035556	Process	Intracellular signal transduction	IMP	18440775
GO:0035924	Process	Cellular response to vascular endothelial growth factor stimulus	IMP	18440775
GO:0042026	Process	Protein refolding	IBA
GO:0042802	Function	Identical protein binding	IMP	20178975, 23948568
GO:0042802	Function	Identical protein binding	IPI	11003656, 15581903, 22365833, 25036637, 25277244
GO:0042803	Function	Protein homodimerization activity	IDA	28144995
GO:0043066	Process	Negative regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	TAS	16130169
GO:0043122	Process	Regulation of canonical NF-kappaB signal transduction	IEA
GO:0043122	Process	Regulation of canonical NF-kappaB signal transduction	ISS
GO:0043130	Function	Ubiquitin binding	ISS
GO:0043292	Component	Contractile muscle fiber	IEA
GO:0043536	Process	Positive regulation of blood vessel endothelial cell migration	IMP	18440775
GO:0044183	Function	Protein folding chaperone	IMP	20178975
GO:0045766	Process	Positive regulation of angiogenesis	IMP	18440775
GO:0048010	Process	Vascular endothelial growth factor receptor signaling pathway	IMP	18440775
GO:0051082	Function	Unfolded protein binding	IBA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	10386584
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 23533145
GO:0070527	Process	Platelet aggregation	HMP	23382103
GO:0090038	Process	Negative regulation of protein kinase C signaling	IEA
GO:0090038	Process	Negative regulation of protein kinase C signaling	ISS
GO:0099641	Process	Anterograde axonal protein transport	IMP	23728742
GO:1902176	Process	Negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	IEA
GO:1902176	Process	Negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway	ISS
GO:1904115	Component	Axon cytoplasm	IEA
GO:2001028	Process	Positive regulation of endothelial cell chemotaxis	IMP	18440775
GO:2001234	Process	Negative regulation of apoptotic signaling pathway	IEA

Other IDs

• MIM: 602195
• HGNC: 5246
• e!Ensembl: ENSG00000106211

Protein

• UniProt ID: P04792
• Protein name: Heat shock protein beta-1 (HspB1) (28 kDa heat shock protein) (Estrogen-regulated 24 kDa protein) (Heat shock 27 kDa protein) (HSP 27) (Heat shock protein family B member 1) (Stress-responsive protein 27) (SRP27)
• Protein function: Small heat shock protein which functions as a molecular chaperone probably maintaining denatured proteins in a folding-competent state (PubMed:10383393, PubMed:20178975). Plays a role in stress resistance and actin organization (PubMed:19166925)
• PDB: 2N3J, 3Q9P, 3Q9Q, 4MJH, 6DV5, 6GJH
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00011	HSP20	87 → 184	Hsp20/alpha crystallin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Detected in all tissues tested: skeletal muscle, heart, aorta, large intestine, small intestine, stomach, esophagus, bladder, adrenal gland, thyroid, pancreas, testis, adipose tissue, kidney, liver, spleen, cerebral cortex, blood serum
• Sequence:

  MTERRVPFSLLRGPSWDPFRDWYPHSRLFDQAFGLPRLPEEWSQWLGGSSWPGYVRPLPP
  AAIESPAVAAPAYSRALSRQLSSGVSEIRHTADRWRVSLDVNHFAPDELTVKTKDGVVEI
  TGKHEERQDEHGYISRCFTRKYTLPPGVDPTQVSSSLSPEGTLTVEAPMPKLATQSNEIT
  IPVTFESRAQLGGPEAAKSDETAAK

• Sequence length: 205

Pathways

KEGG:

MAPK signaling pathway
VEGF signaling pathway
Amoebiasis

Reactome:

VEGFA-VEGFR2 Pathway
AUF1 (hnRNP D0) binds and destabilizes mRNA
MAPK6/MAPK4 signaling
Extra-nuclear estrogen signaling

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
Charcot-Marie-Tooth disease	Likely pathogenic; Pathogenic	rs587781250, rs863225022, rs863225023, rs770272088, rs28939680, rs28937568, rs121909112, rs1422978230, rs557327165, rs1583964560, rs1240900244, rs1583966508	RCV000144874 RCV000789060 RCV000857186 RCV000789334 RCV000789332 RCV001174177 RCV001174175 RCV000789962 RCV000789058 RCV000789965 RCV000789964 RCV000789713 RCV000789059 RCV000789963 RCV000789331	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease axonal type 2F	Likely pathogenic; Pathogenic	rs587781250, rs2536149513, rs2536151779, rs863225022, rs863225023, rs770272088, rs28939680, rs29001571, rs28937568, rs28937569, rs28939681, rs104894020, rs121909112, rs557327165, rs1060503021, rs1064796370, rs1064795077, rs1554614680, rs1422978230, rs150110356, rs766728475, rs1240900244, rs1803069940	RCV001048111 RCV002631139 RCV002889821 RCV000201072 RCV000201127 RCV000204495 RCV000007904 RCV000007907 RCV000809687 RCV005089204 RCV000007910 RCV000809907 RCV000688660 RCV003617756 RCV000468008 RCV001242069 RCV001383411 RCV000809593 RCV000820858 RCV000535288 RCV000641079 RCV000641078 RCV000684870 RCV001873176 RCV003992393 RCV003507314 RCV002549107 RCV001217374 RCV001227212	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Distal hereditary motor neuropathy type 2	Likely pathogenic; Pathogenic	rs770272088	RCV003993892	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal spinal muscular atrophy	Likely pathogenic; Pathogenic	rs770272088	RCV005868108	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HSPB1-related axonal neuropathies	Pathogenic	rs121909112, rs557327165	RCV001794438 RCV001796974	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HSPB1-related disorder	Likely pathogenic; Pathogenic	rs1064796370, rs557327165, rs770272088	RCV004735565 RCV004544855 RCV004527794	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronopathy, distal hereditary motor, type 2B	Likely pathogenic; Pathogenic	rs863225022, rs770272088, rs28939680, rs29001571, rs28937568, rs28937569, rs104894020, rs121909112, rs121909113, rs1064796370, rs557327165, rs1803069940	RCV005409633 RCV004786551 RCV000007905 RCV000007906 RCV000007908 RCV000007909 RCV000007911 RCV000007912 RCV000007913 RCV000678496 RCV001197515 RCV005409734 RCV001328847 RCV001253252	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2F	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease dominant intermediate C	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Charcot-Marie-Tooth disease type 2	Uncertain significance	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, AXONAL, TYPE 2F	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, TYPE 2F	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONTACT DERMATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEJERINE-SOTTAS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DERMATITIS, CONTACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISTAL HEREDITARY MOTOR NEUROPATHY, TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PERIPHERAL NEUROPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ 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, TYPES I-IV	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEREDITARY MOTOR AND SENSORY-NEUROPATHY TYPE II	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary peripheral neuropathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERPLASIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC NEUROPATHY OF INFANCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 3	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERONEAL MUSCULAR ATROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROUSSY-LEVY SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINAL MUSCULAR ATROPHY, JERASH TYPE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STATUS EPILEPTICUS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONGUE NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	15501966, 8411230		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Acute myelomonocytic leukemia	Myelomonocytic Leukemia	BEFREE	23404246		★☆☆☆☆ Found in Text Mining only
Acute pancreatitis	Pancreatitis	BEFREE	30851439		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	10027336, 10960840, 15013707, 15882177, 20858736, 22911792, 25230790		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	15013707, 19088045		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	10027336, 30746368		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	CTD_human_DG	19381893		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	19540014, 29017331, 30651868		★☆☆☆☆ Found in Text Mining only
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	29424489		★☆☆☆☆ Found in Text Mining only
Aggressive Periodontitis	Aggressive Periodontitis	BEFREE	29766408		★☆☆☆☆ Found in Text Mining only
Alexander Disease	Alexander Disease	BEFREE	23594359, 8256860, 8393618		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25332170, 35276041, 37010714, 37735671, 38554950	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	15245475, 18624915, 27492805, 28077174, 28797631		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	27492805	Associate	★☆☆☆☆ Found in Text Mining only
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	12060716		★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	19335999	Associate	★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	16184762		★☆☆☆☆ Found in Text Mining only
Ankylosing spondylitis	Ankylosing Spondylitis	BEFREE	25256892		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	16322258, 22362414, 28252832		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	15662019, 18566345, 19562804, 28610841, 29232010, 30279146, 31136785		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	17720870		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	10701837, 25155585, 29550762	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	Pubtator	22806482	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Astrocytoma	Astrocytoma	BEFREE	24599602, 29550762		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atherosclerosis	Atherosclerosis	BEFREE	15662019, 18566345, 19562804, 28610841, 29232010, 30279146, 31136785		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	40018940	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	17110598		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	17688193	Stimulate	★☆☆☆☆ Found in Text Mining only
Autosomal dominant Charcot-Marie-Tooth disease type 2F	Charcot-Marie-Tooth Disease	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	25230790		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	10027336, 15013707		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	10027336	Inhibit	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	12482203	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	LHGDN	15013707		★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	26063949		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	17218637, 19625496, 29487706		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	26046355	Associate	★☆☆☆☆ Found in Text Mining only
Bloom Syndrome	Bloom Syndrome	BEFREE	29167193		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	23334892	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Brain ischemia	Pubtator	31783528	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	24911084		★☆☆☆☆ Found in Text Mining only
Breast adenocarcinoma	Breast Adenocarcinoma	BEFREE	16340246		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	11263990, 15833836, 16340246, 16733662, 16843591, 17697330, 18834540, 21279488, 21784846, 22023707, 22589302, 22627320, 22907762, 23724044, 25454514, 25519015, 30237093, 31827382, 7530588, 7819588, 8169976, 8334681		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16033076, 16340246, 21279488, 22384035, 22907762, 23724044, 24816797, 25519015, 29699584, 29954368, 31827382, 31839604, 35235182, 37268925, 8334681	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	27555231	Inhibit	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37454220	Stimulate	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Burkitt lymphoma	Pubtator	12967475	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12200599, 21119665, 29062135, 37010714	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	29424489	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	23264215	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	15810071, 16224158, 19161326, 19331697, 19901540, 21888831, 34288818	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	29492827		★☆☆☆☆ Found in Text Mining only
Carcinoma Large Cell	Large cell carcinoma	Pubtator	24344017	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	17218637, 19625496, 29487706		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12482204, 18497994, 19540014, 20231684, 25811031, 26872057, 26874728, 27555231, 28848138, 28869891, 29062135, 30864724, 31015126, 31015163, 31126962		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	19930842, 38310132	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	24061637	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	22004109, 32200459, 34955688	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24504108, 27806310	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	27540972	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	21196872, 22500095	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	19930842, 23996744, 26931434, 28325957, 30502327, 9713493		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	25736854		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	21514288, 29864522, 30188755, 30964709		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	28237841	Associate	★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	30558560		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	BEFREE	19649315		★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	23950959	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	19052195, 19997117, 22357851, 27936516, 28257891, 29510140		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	29766408		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	18279381, 19860665, 27936516, 29795667, 30991382		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28337643		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	28260077, 29492827		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	28337643		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	BEFREE	15122254, 16087758, 16155736, 18832141, 20157854, 20178975, 20660910, 22521462, 22734906, 23728742, 25547330, 28595321, 28797631, 28828227, 28969372, 29048431, 29330367, 29381233, 30669930, 31212070		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	LHGDN	15122254, 16215937		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	CLINVAR_DG	15122254, 20178975, 20660910, 22031878, 25025039		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	Charcot-Marie-Tooth Disease	CLINVAR_DG	15122254, 17881652, 18325928, 18344398, 18832141, 20870250, 21611841, 21892769, 22176143, 22734906, 23643870, 23948568, 23963299, 25429913, 25547330, 25965061, 26989944, 27816334, 27862672, 28144995, 28595321, 28702508, 29381233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	Charcot-Marie-Tooth Disease	UNIPROT_DG	15122254, 20178975, 22176143, 22206013, 23728742		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	Charcot-Marie-Tooth Disease	BEFREE	18587268, 18832141, 20870250, 23728742, 26141737, 29133339		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	Charcot-Marie-Tooth Disease	GENOMICS_ENGLAND_DG	28379183		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F	Charcot-Marie-Tooth Disease	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	18154639	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	22051775	Stimulate	★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	28500348, 29191461		★☆☆☆☆ Found in Text Mining only
Cholesteatoma	Cholesteatoma	Pubtator	23852020	Associate	★☆☆☆☆ Found in Text Mining only
Cholesteatoma Middle Ear	Middle ear cholesteatoma	Pubtator	23852020	Associate	★☆☆☆☆ Found in Text Mining only
Chondroma	Chordoma	Pubtator	11079732	Associate	★☆☆☆☆ Found in Text Mining only
Chondrosarcoma	Chondrosarcoma	Pubtator	11079732	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	10600295		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Chronic axonal neuropathy	Neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	28844461		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 2	Kidney Disease	BEFREE	29421151		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	29421151		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20661426		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	31820266		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	38502899	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29185927		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	12126313, 18949417, 22842517, 26043026, 29328475, 30544747, 30915129		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	15059925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colonic Neoplasms	Colonic Neoplasms	LHGDN	18949417		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17395183, 17503081, 21725199, 21989268, 22982087, 25793600, 28150434, 28182330, 29328475, 30056019, 30250600, 30544747, 31364192		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	12633846, 17395183, 21521691, 22799385, 23004678, 28182330, 28347227, 28671249, 30755640, 30915129, 38166604, 8647109	Associate	★☆☆☆☆ Found in Text Mining only
Comedone	Comedone	BEFREE	7530588		★☆☆☆☆ Found in Text Mining only
Complex Partial Status Epilepticus	Status Epilepticus	CTD_human_DG	20971094		★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CTD_human_DG	17481944		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Congestive Heart Failure	BEFREE	28844461		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Contact Dermatitis	Dermatitis	CTD_human_DG	25724174		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20437403, 24504108		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	15662019, 21514288, 29232010		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	LHGDN	15662019		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	29232010		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	35152560	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	29232010		★☆☆☆☆ Found in Text Mining only
Cystic Fibrosis	Cystic Fibrosis	BEFREE	30279146		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating diseases	Pubtator	26694816	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	22068623, 22569359, 29175119		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	18390793	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	22068623, 22569359, 26046355, 28237841, 29175119		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23894433, 26046355, 28237841, 29381233, 39848169	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	26046355	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29175119		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	29175119		★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	29175119		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	23209562	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	29175119		★☆☆☆☆ Found in Text Mining only
Distal amyotrophy	Distal amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal hereditary motor neuropathy type 2	Distal Hereditary Motor Neuronopathy	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Distal Hereditary Motor Neuropathy Type II	Distal hereditary motor neuropathy	Pubtator	17663003, 20157854, 20178975, 23728742, 25088881, 27816334, 28000086, 28828227, 29381233, 30669930, 33943041, 33973728, 35328016, 36291591, 38578345	Associate	★☆☆☆☆ Found in Text Mining only
Distal Hereditary Motor Neuropathy, Type II	Distal Hereditary Motor Neuronopathy	ORPHANET_DG	15122254		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal Hereditary Motor Neuropathy, Type II	Distal Hereditary Motor Neuronopathy	BEFREE	18832141, 28797631		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Distal lower limb amyotrophy	Distal lower limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	28828227	Associate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	15882177	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	15571513	Stimulate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	16048836		★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	19930842, 30502327		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	27097982		★☆☆☆☆ Found in Text Mining only
Esophageal carcinoma	Esophageal Carcinoma	BEFREE	24748206, 30920655		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophagus Neoplasm	BEFREE	24748206, 30920655		★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	35053196	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	29099815, 35053196	Associate	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	18066588		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	30746368		★☆☆☆☆ Found in Text Mining only
Fibrocystic Breast Disease	Breast fibrocystic disease	Pubtator	23264215	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosarcoma	Fibrosarcoma	BEFREE	10092213		★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	BEFREE	19961396		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	BEFREE	21095095		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher Disease	BEFREE	25583479		★☆☆☆☆ Found in Text Mining only
Gaucher Disease	Gaucher disease	Pubtator	25583479	Associate	★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	8625326		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	24597656		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	17980509, 22903412, 24126416, 25200832, 25202074, 26722029, 29550762, 31028823, 31073903, 8113214		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	24902789, 26108672, 29550762, 31073903, 32409605, 37158834	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	17980509, 22903412, 24126416, 25200832, 25202074, 26722029, 31028823, 31073903, 8113214		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	22114076, 22480225, 23382286, 24126416, 24911084, 27711253, 29550762, 29627902, 31498913		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	22114076, 22480225, 27711253, 29627902, 34068110, 37158834, 37211949	Associate	★☆☆☆☆ Found in Text Mining only
Grand Mal Status Epilepticus	Grand Mal Status Epilepticus	CTD_human_DG	20971094		★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	23849696		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	21545686	Associate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	CTD_human_DG	17481944		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	21545686	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure, Right-Sided	Heart Failure	CTD_human_DG	17481944		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	31637018		★☆☆☆☆ Found in Text Mining only
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	19424620		★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	22176143, 22206013, 25547330, 28595321, 29341343		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Motor Neuronopathy	Distal hereditary motor neuronopathy	BEFREE	16368711, 18952241		★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Motor Neuropathy	Hereditary sensory and motor neuropathy	Pubtator	35328016, 37540114	Associate	★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	BEFREE	24773279		★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung disease	Pubtator	24773279	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	36971475	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	9527842		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	CTD_human_DG	9527842		★☆☆☆☆ Found in Text Mining only
Hypoxic-Ischemic Encephalopathy	Hypoxic-Ischemic Encephalopathy	BEFREE	28285429		★☆☆☆☆ Found in Text Mining only
Ichthyoses	Ichthyosis	BEFREE	16021576		★☆☆☆☆ Found in Text Mining only
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis	Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis	BEFREE	16021576		★☆☆☆☆ Found in Text Mining only
Ichthyosis, X-Linked	Ichthyosis	BEFREE	16021576, 21679777		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	29650953		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	27930406		★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	23894433	Associate	★☆☆☆☆ Found in Text Mining only
Intraepithelial Neoplasia	Intraepithelial Neoplasia	BEFREE	22886594		★☆☆☆☆ Found in Text Mining only
Ischemic Stroke	Ischemic stroke	Pubtator	23334892	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	28137866, 31502740		★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	31467338	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	38096952	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Neoplasms	Laryngeal neoplasm	Pubtator	27540972	Associate	★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CTD_human_DG	17481944		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	18452107, 23404246		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	1998499, 20694586, 21364669, 8287974	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15911090, 24885082	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15501966, 23404246, 9808049		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	17330099		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	16240287, 16400691, 18167130		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	17673262, 18167130, 19331697, 21888831, 23469976, 26381739, 28903396, 29563808		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	21472284		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	24465581, 26169728		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	27555231	Inhibit	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	24465581		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	26872057, 29062135, 32576196	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	25655337		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19497117, 25519015, 27540972, 29099815	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	24569473, 29062135	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	25519015, 29062135		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	16126176, 19429074		★☆☆☆☆ Found in Text Mining only
Malignant Fibrous Histiocytoma	Malignant Histiocytoma	BEFREE	8169976		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	23849696		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of brain	Brain Neoplasms	BEFREE	24911084		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	11263990, 15833836, 16340246, 16733662, 16843591, 17697330, 18834540, 21279488, 21784846, 22023707, 22589302, 22627320, 22907762, 23724044, 25454514, 25519015, 30237093, 31827382, 7819588, 8334681, 8411230		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	BEFREE	24748206, 30920655		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	8528482		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	22664592, 26169728, 28665748		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	18497994, 19540014, 20231684, 25811031, 26872057, 26874728, 27555231, 28848138, 28869891, 29062135, 30864724, 31015126, 31015163, 31126962		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	CTD_human_DG	15274141		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	19930842, 23996744, 26931434, 28325957, 9568646, 9713493		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21999932, 22012255, 22617708, 24280570, 25331547, 26124331, 26348464, 26805817, 28912272, 29936456		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10702402, 10960840, 15374973, 16322258, 16407830, 16984557, 17974989, 19533723, 19707199, 22362414, 22647853, 22675041, 23165430, 23492367, 24222130, 24798191, 24982356, 25130271, 26434601, 28252832, 29250742, 30807779, 31426412		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	14604899, 22886594, 28979146, 8411230		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	19424620		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	CTD_human_DG	19840781		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	17218637, 19625496, 29487706		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	14715258, 15882177, 16340246, 17980509, 19331697, 19436268, 19540014, 20087649, 20231684, 20661426, 20800695, 20858736, 21095095, 21423207, 22012255, 22571949, 22617708, 22675041, 22886594, 22984562, 23996744, 24138636, 24270800, 24411988, 24618684, 25331547, 25728673, 26381739, 27449291, 27555231, 27600495, 28460458, 28665748, 28869891, 28900272, 28903396, 29246940, 29328475, 29492827, 29650953, 29844172, 30279146, 30396985, 30471115, 30746368, 31322176, 31426426, 8169976, 8625326		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28337643		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	15059925		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	18949417, 22842517, 26043026, 29328475, 30544747, 30915129		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	16048908, 17697330		★☆☆☆☆ Found in Text Mining only
Melanocytic nevus	Melanocytic nevus	BEFREE	16021576		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	14984058, 19643972, 22589302, 27166673, 28182330		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	14984058, 15491326, 28182330	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	35232428	Associate	★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	MERRF Syndrome	BEFREE	21679777, 22742457		★☆☆☆☆ Found in Text Mining only
MERRF Syndrome	Myoclonic epilepsy with ragged red fibers	Pubtator	22742457	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	27864821		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	23492367		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	22742457		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	37433777	Stimulate	★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	LHGDN	17623484		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor Neuron Disease	BEFREE	20157854, 22521462, 25965061, 27790792, 29330367		★☆☆☆☆ Found in Text Mining only
Motor Neuron Disease	Motor neuron disease	Pubtator	20157854	Associate	★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	15274141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	LHGDN	12855565		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	CTD_human_DG	12855565		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	17173546, 19383903	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	BEFREE	19383903, 31322176		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	15571513, 30014472, 31004050, 37735671, 38003363	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	26694816	Stimulate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	30014472		★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	29650953		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	29774100		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	29650953		★☆☆☆☆ Found in Text Mining only
Myocardial Failure	Myocardial Infarction	CTD_human_DG	17481944		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	19374930, 23987185, 29982352, 30188755, 31783528		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	31783528	Stimulate	★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial Ischemia	BEFREE	21514288		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	29982352		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	15978589	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	28969372, 31561939		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	Myofibrillar myopathy	BEFREE	12861387		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	17184779, 22160175, 31115576	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	21717573, 22847231, 27152617, 28367237, 31115576		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	17201177	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10528027, 10725639, 11263990, 12380685, 12971413, 15374973, 15882177, 16184762, 16322258, 16340246, 16984557, 17218637, 17409432, 1742734, 17697330, 17980509, 18089808, 18497994, 19540014, 19961396, 20093746, 20439495, 20800695, 22012255, 22350794, 22480225, 22589302, 22627320, 22886594, 22907762, 22948392, 23492367, 23849696, 24222130, 24346967, 24504108, 24599602, 24748206, 24798191, 25230790, 26722029, 27166673, 27555231, 28182330, 28325957, 29492827, 29592877, 29627902, 29699584, 30802787, 31139544, 31364192, 31845908, 7530588, 8169976, 8188614, 8411230, 8877098, 9311607		★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	29187369		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	27816334, 30669930, 33973728, 37540114	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	19860665		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	17623797, 18066588, 19429074, 21670152, 28599461, 31012118, 8169976		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	27492805	Associate	★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	27152617, 28077174, 30279146		★☆☆☆☆ Found in Text Mining only
Neuronopathy Distal Hereditary Motor Type V	Distal hereditary motor neuropathy	Pubtator	17663003, 21892769	Associate	★☆☆☆☆ Found in Text Mining only
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	Neuronopathy	UNIPROT_DG	15122254, 18832141, 18952241, 20178975, 20870250, 22176143, 23643870, 23728742, 23948568, 25965061, 28144995		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	Neuronopathy	GENOMICS_ENGLAND_DG	27830184, 28379183		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	Neuronopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB	Neuronopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE V	Neuronopathy	BEFREE	17663003		★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	15122254, 15296780, 20178975, 22176143, 22734906, 23728742, 23948568, 23963299, 25965061, 27816334, 28077174, 28595321, 31212070, 31630804		★☆☆☆☆ Found in Text Mining only
Nevus	Nevus	BEFREE	16021576		★☆☆☆☆ Found in Text Mining only
Niemann-Pick Disease, Type C	Niemann-Pick Disease	BEFREE	27152617		★☆☆☆☆ Found in Text Mining only
Non-Convulsive Status Epilepticus	Nonconvulsive status epilepticus	CTD_human_DG	20971094		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	21937138, 22608953, 23374503, 24618684, 25740245, 28274158, 28460458, 29017331, 29062135, 29285257, 31115576		★☆☆☆☆ Found in Text Mining only
Noninfiltrating Intraductal Carcinoma	Ductal carcinoma	BEFREE	7530588		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	23894433		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	23894433, 28237841	Associate	★☆☆☆☆ Found in Text Mining only
Oligodendroglioma	Oligodendroglioma	Pubtator	22806482	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	26063949, 27241641		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	26063949	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	23027359, 23091618, 29592877		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	23027359	Stimulate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	29592877	Associate	★☆☆☆☆ Found in Text Mining only
Otitis Media with Effusion	Otitis media	BEFREE	28964286		★☆☆☆☆ Found in Text Mining only
Ovarian Carcinoma	Ovarian Carcinoma	BEFREE	26931434		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian Diseases	BEFREE	19930842		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	19930842	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	19930842, 23996744, 26931434, 28325957, 9713493		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	15304155, 19930842, 28325957, 38310132	Associate	★☆☆☆☆ Found in Text Mining only
PACHYONYCHIA CONGENITA 3	Pachyonychia Congenita	BEFREE	15374973, 19533723		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21999932, 22012255, 22617708, 24280570, 25331547, 26124331, 26348464, 26805817, 28912272, 29936456		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	22004109, 22116673, 25331547, 26895107, 29695571, 29936456	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	36671463	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Paraparesis	Paraparesis	Pubtator	33973728	Associate	★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	Pubtator	37510225	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	22429328		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	37735671	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus	Pemphigus	Pubtator	37940861	Associate	★☆☆☆☆ Found in Text Mining only
Periapical Periodontitis	Periapical Periodontitis	BEFREE	28673495		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	BEFREE	29766408		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	35901060	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	16048837, 16087758, 18344398, 20157854, 20178975, 22521462, 22734906, 23728742, 23948568, 25547330, 28000086, 28077174, 28828227, 28969372, 29381233, 30669930		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	20178975, 20858900, 23643870, 26141737, 27567740, 29048431, 29330367, 30669930		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	20178975, 29330367, 30669930, 35328016	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	20178975, 20858900, 26141737, 29048431, 29330367, 30669930		★☆☆☆☆ Found in Text Mining only
Peritoneal Neoplasms	Peritoneal neoplasm	Pubtator	23508575	Associate	★☆☆☆☆ Found in Text Mining only
Peritonitis	Peritonitis	Pubtator	24061637	Stimulate	★☆☆☆☆ Found in Text Mining only
Petit mal status	Petit Mal Status	CTD_human_DG	20971094		★☆☆☆☆ Found in Text Mining only
Pituitary Neoplasms	Pituitary neoplasm	Pubtator	37241117	Stimulate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	23382852, 24391762		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	24391762	Inhibit	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	34480296	Associate	★☆☆☆☆ Found in Text Mining only
Precursor Cell Lymphoblastic Leukemia Lymphoma	Lymphoblastic Leukemia	BEFREE	15501966, 8411230		★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	BEFREE	29650953		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10702402, 10960840, 15374973, 16322258, 16407830, 16984557, 17974989, 19533723, 19707199, 22362414, 22647853, 22675041, 23165430, 23492367, 24222130, 24798191, 24982356, 25130271, 26434601, 28252832, 29250742, 30807779, 31426412		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	10702402, 16619575, 19707199, 22075945, 23165430, 25193387, 25277244, 26158290, 26175869, 27708246	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16407830, 17342744		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	22675041, 25130271, 27555231		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	27864821		★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27909724, 31126962		★☆☆☆☆ Found in Text Mining only
Raynaud Disease	Raynaud disease	Pubtator	38302542	Stimulate	★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	LHGDN	15274119		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	20437403		★☆☆☆☆ Found in Text Mining only
Restless Legs Syndrome	Willis-ekbom disease	Pubtator	36291591	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30166342		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	21417552		★☆☆☆☆ Found in Text Mining only
Russell-Silver syndrome	Russell-Silver Syndrome	BEFREE	17663003		★☆☆☆☆ Found in Text Mining only
Salivary Gland Neoplasms	Salivary gland neoplasms	Pubtator	39201484	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	22350794		★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Seckel syndrome 1	Seckel syndrome	Pubtator	23401567	Associate	★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	15571513	Associate	★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	21670152, 23605646		★☆☆☆☆ Found in Text Mining only
Septicemia	Septicemia	BEFREE	30131526		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	24344017	Associate	★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 17	Spastic Paraplegia	BEFREE	17663003		★☆☆☆☆ Found in Text Mining only
Spastic paraplegia 17	Spastic paraplegia	Pubtator	17663003	Associate	★☆☆☆☆ Found in Text Mining only
Spinal muscular atrophy, Jerash type	Spinal Muscular Atrophy	ORPHANET_DG	15122254		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA 17	Spinocerebellar Ataxia	BEFREE	29936316		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	11779227, 11836590		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	15274141		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	17980509, 8411230, 9210326		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	24748206, 29099815, 31082616		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	16619543	Inhibit	★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19497117, 19602232, 20540527, 21196872, 27540972, 32926599, 34498800	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	29017331		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	10725639, 19436268, 20234090, 20540527		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	29246940		★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	29088740, 31783528		★☆☆☆☆ Found in Text Mining only
Status Epilepticus	Status Epilepticus	CTD_human_DG	20971094		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus	Status Epilepticus	BEFREE	28275338, 29749377, 31090233		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Status Epilepticus, Subclinical	Status Epilepticus	CTD_human_DG	20971094		★☆☆☆☆ Found in Text Mining only
Steroid Sulfatase Deficiency Disease	Steroid Sulfatase Deficiency Disease	BEFREE	21679777		★☆☆☆☆ Found in Text Mining only
Stickler Syndrome Type I Nonsyndromic Ocular	Stickler syndrome	Pubtator	33973728	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	22886594, 28979146, 8411230		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	12200599	Associate	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	12200599, 12923326, 19203381, 22860099, 27644641	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	19424620		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Stroke	Stroke	Pubtator	23334892	Stimulate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	31273911		★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	25772164		★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular neoplasm	Pubtator	7669571	Inhibit	★☆☆☆☆ Found in Text Mining only
Testicular Neoplasms	Testicular Neoplasms	BEFREE	8625326		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	23080524	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue cancer	Pubtator	14730689	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Tongue Neoplasms	Tongue Neoplasms	CTD_human_DG	19840781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Upper limb amyotrophy	Limb amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	12942564, 35945269	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	21119665, 24175767	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	15882177, 22027750, 24569473, 40197384	Associate	★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal Melanoma	BEFREE	19643972, 21114636, 30867659		★☆☆☆☆ Found in Text Mining only
Uveal melanoma	Uveal melanoma	Pubtator	21114636, 22806482, 26305875, 35341390	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	19562804		★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	39302489	Inhibit	★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	26063949		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	BEFREE	12838549		★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	LHGDN	12838549		★☆☆☆☆ Found in Text Mining only