CRYAB (crystallin alpha B)

Gene

• Entrez ID: 1410
• Gene name: Crystallin alpha B
• Gene symbol: CRYAB
• Synonyms (NCBI Gene): CMD1II, CRYA2, CTPP2, CTRCT16, HEL-S-101, HSPB5, MFM2, MFM2A, MFM2B
• Chromosome: 11
• Chromosome location: 11q23.1
• Summary: Mammalian lens crystallins are divided into alpha, beta, and gamma families. Alpha crystallins are composed of two gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat shock and are members of th

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894201	T>C	Pathogenic	Missense variant, coding sequence variant
rs104894202	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs144451841	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs150516929	C>T	Likely-benign, uncertain-significance, pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs202024436	T>C	Uncertain-significance, likely-pathogenic	Splice acceptor variant
rs281865142	A>-	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs387907336	C>T	Pathogenic	Missense variant, coding sequence variant
rs387907339	C>A,G	Pathogenic	Missense variant, coding sequence variant
rs1114167341	T>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs1566402514	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1566402656	T>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1547491	hsa-miR-1298	CLIP-seq
MIRT1547492	hsa-miR-2110	CLIP-seq
MIRT1547493	hsa-miR-4271	CLIP-seq
MIRT1547494	hsa-miR-4420	CLIP-seq
MIRT1547495	hsa-miR-4456	CLIP-seq
MIRT1547496	hsa-miR-4457	CLIP-seq
MIRT1547497	hsa-miR-4725-3p	CLIP-seq
MIRT1547498	hsa-miR-491-5p	CLIP-seq
MIRT1547499	hsa-miR-513b	CLIP-seq
MIRT1547500	hsa-miR-541	CLIP-seq
MIRT1547501	hsa-miR-654-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HMGA1	Unknown	17723105
TFAP2A	Activation	21556774
TFAP2B	Activation	21556774
TP53	Activation	21556774

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001540	Function	Amyloid-beta binding	IPI	23106396
GO:0001666	Process	Response to hypoxia	IEA
GO:0002088	Process	Lens development in camera-type eye	IEA
GO:0005198	Function	Structural molecule activity	IDA	16303126
GO:0005198	Function	Structural molecule activity	IEA
GO:0005212	Function	Structural constituent of eye lens	IEA
GO:0005515	Function	Protein binding	IPI	11700327, 12235146, 12601044, 14752512, 16049941, 17046756, 18330356, 19651604, 20587334, 22085609, 22153508, 22158051, 23188086, 23542032, 24183572, 25910212, 26465331, 28470624, 28514442, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	19464326, 20587334
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	14752512, 19464326, 20587334
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0006457	Process	Protein folding	IEA
GO:0006457	Process	Protein folding	NAS	9731540
GO:0006936	Process	Muscle contraction	TAS	9731540
GO:0007021	Process	Tubulin complex assembly	IEA
GO:0007517	Process	Muscle organ development	IEA
GO:0008017	Function	Microtubule binding	IEA
GO:0008092	Function	Cytoskeletal protein binding	IEA
GO:0009408	Process	Response to heat	IBA
GO:0009892	Process	Negative regulation of metabolic process	IEA
GO:0009986	Component	Cell surface	IEA
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0030018	Component	Z disc	IEA
GO:0030308	Process	Negative regulation of cell growth	IEA
GO:0030424	Component	Axon	IEA
GO:0031109	Process	Microtubule polymerization or depolymerization	IEA
GO:0031333	Process	Negative regulation of protein-containing complex assembly	IDA	23106396
GO:0031430	Component	M band	IEA
GO:0031674	Component	I band	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032387	Process	Negative regulation of intracellular transport	IDA	14752512
GO:0032432	Component	Actin filament bundle	IEA
GO:0032991	Component	Protein-containing complex	IDA	16303126, 20587334
GO:0042026	Process	Protein refolding	IBA
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0042542	Process	Response to hydrogen peroxide	IEA
GO:0042802	Function	Identical protein binding	IPI	12601044, 16303126, 18330356, 19651604, 20802487, 21464278, 22143763, 22153508, 23188086, 24183572, 26465331, 27226619
GO:0042803	Function	Protein homodimerization activity	IPI	19646995
GO:0043010	Process	Camera-type eye development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IDA	14752512
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043067	Process	Regulation of programmed cell death	IMP	23542032
GO:0043197	Component	Dendritic spine	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0043292	Component	Contractile muscle fiber	IEA
GO:0044877	Function	Protein-containing complex binding	IPI	23106396
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	20587334
GO:0046872	Function	Metal ion binding	IEA
GO:0050821	Process	Protein stabilization	IMP	12235146
GO:0051082	Function	Unfolded protein binding	IBA
GO:0051082	Function	Unfolded protein binding	IPI	16303126
GO:0051403	Process	Stress-activated MAPK cascade	IEA
GO:0060561	Process	Apoptotic process involved in morphogenesis	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0071480	Process	Cellular response to gamma radiation	IMP	23542032
GO:0097060	Component	Synaptic membrane	IEA
GO:0097512	Component	Cardiac myofibril	IEA
GO:1905907	Process	Negative regulation of amyloid fibril formation	IDA	23106396
GO:2000378	Process	Negative regulation of reactive oxygen species metabolic process	IEA

Other IDs

• MIM: 123590
• HGNC: 2389
• e!Ensembl: ENSG00000109846

Protein

• UniProt ID: P02511
• Protein name: Alpha-crystallin B chain (Alpha(B)-crystallin) (Heat shock protein beta-5) (HspB5) (Heat shock protein family B member 5) (Renal carcinoma antigen NY-REN-27) (Rosenthal fiber component)
• Protein function: May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. In lens epithelial cells, stabilizes the ATP6V1A protein, preve
• PDB: 2KLR, 2N0K, 2WJ7, 2Y1Y, 2Y1Z, 2Y22, 2YGD, 3J07, 3L1G, 3SGM, 3SGN, 3SGO, 3SGP, 3SGR, 3SGS, 4M5S, 4M5T, 5VVV, 6BP9, 7ROJ, 9BEE
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00525	Crystallin	1 → 56	Alpha crystallin A chain, N terminal	Family
  PF00011	HSP20	67 → 162	Hsp20/alpha crystallin family	Family

• Tissue specificity: TISSUE SPECIFICITY: Lens as well as other tissues (PubMed:2387586, PubMed:838078). Expressed in myocardial tissue (PubMed:28493373). {ECO:0000269|PubMed:2387586, ECO:0000269|PubMed:28493373, ECO:0000269|PubMed:838078}.
• Sequence:

  MDIAIHHPWIRRPFFPFHSPSRLFDQFFGEHLLESDLFPTSTSLSPFYLRPPSFLRAPSW
  FDTGLSEMRLEKDRFSVNLDVKHFSPEELKVKVLGDVIEVHGKHEERQDEHGFISREFHR
  KYRIPADVDPLTITSSLSSDGVLTVNGPRKQVSGPERTIPITREEKPAVTAAPKK

• Sequence length: 175

Pathways

KEGG:

Protein processing in endoplasmic reticulum
Longevity regulating pathway - multiple species

Reactome:

HSF1-dependent transactivation

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
Cardiomyopathy, familial restrictive, 1	Likely pathogenic	rs1114167341	RCV000491328	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cataract 16 multiple types	Likely pathogenic; Pathogenic	rs2137378244, rs1566402656, rs387907336, rs387907337	RCV001542475 RCV000018466 RCV000034840 RCV000034841	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CRYAB-related disorder	Likely pathogenic	rs2497884970	RCV003402437	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Developmental cataract	Pathogenic	rs2497874840	RCV002291346	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Dilated cardiomyopathy 1II	Pathogenic; Likely pathogenic	rs1965461881, rs1965456387, rs1114167341	RCV002541115 RCV001882181 RCV000655020	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Myofibrillar myopathy 2	Pathogenic	rs104894201, rs281865141, rs387907339, rs1965352990	RCV000018465 RCV000043523 RCV000034843 RCV001175167	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, SQUAMOUS CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1II	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular phenotype	Uncertain significance; Conflicting classifications of pathogenicity; Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 16 MULTIPLE TYPE S	—	ClinVar, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 16, MULTIPLE TYPE S	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congestive heart failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEGENERATIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET LAMELLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET NUCLEAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EARLY-ONSET POSTERIOR POLAR CATARACT	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL ISOLATED DILATED CARDIOMYOPATHY	—	GWAS catalog, Orphanet GWAS catalog, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL OR IDIOPATHIC DILATED CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatal infantile hypertonic myofibrillar myopathy	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOFIBRILLAR MYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myofibrillar Myopathy, Dominant	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISEASES	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEGENERATIVE DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Posterior polar cataract	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POSTERIOR SUBCAPSULAR CATARACT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary dilated cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TONGUE NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Xeroderma pigmentosum, group D	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Age related macular degeneration	Age-related macular degeneration	BEFREE	24874187, 26878210, 29778783		★☆☆☆☆ Found in Text Mining only
Alexander Disease	Alexander Disease	BEFREE	1407707, 22118268, 23594359, 2539261, 8256860, 8393618		★☆☆☆☆ Found in Text Mining only
Alexander Disease	Alexander disease	Pubtator	1743282, 20110364	Associate	★☆☆☆☆ Found in Text Mining only
Alpha-B crystallin-related late-onset myopathy	Alpha-B Crystallinopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Alpha-B Crystallinopathy	Alpha-B Crystallinopathy	UNIPROT_DG	12601044, 14681890, 21920752, 9731540		★☆☆☆☆ Found in Text Mining only
Alpha-B Crystallinopathy	Alpha-B Crystallinopathy	ORPHANET_DG	20171888		★☆☆☆☆ Found in Text Mining only
Alpha-B Crystallinopathy	Alpha-B Crystallinopathy	GENOMICS_ENGLAND_DG	21337604		★☆☆☆☆ Found in Text Mining only
Alpha-B Crystallinopathy	Alpha-B Crystallinopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Alpha-B Crystallinopathy	Alpha-B Crystallinopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	25332170, 26566902	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	23496965, 28176658		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	22993064	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic lateral sclerosis 1	Amyotrophic lateral sclerosis	Pubtator	27075172	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis, Familial	Amyotrophic lateral sclerosis	BEFREE	20067574		★☆☆☆☆ Found in Text Mining only
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	24473683		★☆☆☆☆ Found in Text Mining only
Anaplastic thyroid carcinoma	Anaplastic thyroid cancer	BEFREE	16184762		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	31095464		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	10701837	Associate	★☆☆☆☆ Found in Text Mining only
Asymmetric crying face association	Asymmetric crying face association	BEFREE	28455287		★☆☆☆☆ Found in Text Mining only
Ataxia Telangiectasia	Ataxia Telangiectasia	BEFREE	8406440		★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	11593501	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	18695063	Stimulate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	8278027		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	20841355, 21980040, 21984182, 23471649, 23722303, 28506831, 31239701, 31443698, 8278027		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	15197794, 20841355, 22972503, 23722303, 24489661, 26464626, 31443698, 35235182, 35686034	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	16395408	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	26789112, 28796798, 33607849	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal	Ductal carcinoma	Pubtator	26464626	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Ductal Breast	Ductal carcinoma of breast	Pubtator	22972503	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of larynx	Laryngeal carcinoma	BEFREE	23231769		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	31239701		★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	18409151, 26464692	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	10559197, 16129694, 21329698, 27226619, 28470624, 32420686, 34843556	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	BEFREE	12837281, 16316967, 17693254, 20171888, 23770744, 23818860, 28470624, 28502773, 28655832, 28679593, 29162721, 29190034, 30773991, 30974319		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	LHGDN	17693254		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	19282282	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	31037987, 38428347	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	16483541, 22040875		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	16483541		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1II	Cardiomyopathy	UNIPROT_DG	16483541, 16793013		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1II	Cardiomyopathy	CLINVAR_DG	21130652, 21920752, 23194663, 26627873, 27226619, 28493373		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1II	Cardiomyopathy	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1II	Cardiomyopathy	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	16483541, 23590293		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	BEFREE	28493373		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder)	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	10339554, 10542268, 10559197, 11577372, 15448619, 18343237, 18587492, 18618007, 19387068, 19461931, 19597569, 21329698, 22347476, 23194663, 23950959, 24183572, 26459004, 26622071, 28640093, 31812542, 32420686, 34304179, 34843556, 38203641	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	LHGDN	11577372, 18343237		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	CTD_human_DG	11577372		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	BEFREE	12565801, 16877416, 19461931, 19860667, 20141356, 21087083, 21445271, 23818860, 24183572, 25195561, 26210153, 26351848, 26402864, 26542570, 27226619, 28146420, 28176658, 28919577, 29162721, 29850213, 30521667, 31369034, 31678106, 9650087		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	Pubtator	26351848, 27234311	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cataract	Cataract	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CATARACT 16, MULTIPLE TYPES	Cataract	GENOMICS_ENGLAND_DG	11577372, 21337604		★☆☆☆☆ Found in Text Mining only
CATARACT 16, MULTIPLE TYPES	Cataract	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
CATARACT 16, MULTIPLE TYPES	Cataract	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cataract microcornea syndrome	Cataract-microcornea syndrome	Pubtator	28640093	Associate	★☆☆☆☆ Found in Text Mining only
Cataract Nuclear Progressive	Congenital cataract	Pubtator	19597569	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	Pubtator	11593501	Associate	★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30249602		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	31481750		★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	CTD_human_DG	15059925		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal Carcinoma	Colorectal Cancer	BEFREE	25337251, 28506831, 28796798, 30082880		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	24516561, 25337251, 28796798, 30082880, 34959120	Associate	★☆☆☆☆ Found in Text Mining only
Congenital arteriovenous malformation	Congenital Arteriovenous Malformation	BEFREE	31757032		★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	16877416, 20171888, 22347476, 26402864, 28135318, 28640093, 29850213, 9124809		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital cataract	Congenital Cataract	CLINVAR_DG	26694549		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Corneal Opacity	Corneal opacity	Pubtator	28640093	Associate	★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Sporadic	Creutzfeldt-Jakob disease	BEFREE	23832485		★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Central Nervous System	Degenerative Diseases, Central Nervous System	CTD_human_DG	15964507		★☆☆☆☆ Found in Text Mining only
Degenerative Diseases, Spinal Cord	Degenerative Diseases, Central Nervous System	CTD_human_DG	15964507		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	LHGDN	19116904		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	31226261		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	32420686	Associate	★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Dysphagia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	LHGDN	17568699		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	22537749		★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	BEFREE	11298680, 27226619, 28493373		★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	20171888		★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	23496965	Associate	★☆☆☆☆ Found in Text Mining only
Drusen	Drusen	BEFREE	24874187		★☆☆☆☆ Found in Text Mining only
Early-onset lamellar cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset nuclear cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset posterior polar cataract	Cataract	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Esophageal Neoplasms	Esophagus Neoplasm	CTD_human_DG	15986332		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Exudative age-related macular degeneration	Exudative Macular Degeneration	BEFREE	26878210		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	31215171	Associate	★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	16483541, 16793013		★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fatal infantile hypertonic myofibrillar myopathy	Hypertonic Myofibrillar Myopathy	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fleck corneal dystrophy	Fleck Corneal Dystrophy	BEFREE	27885945		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	BEFREE	29778783		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	19401404	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	30389787		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	29850213		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	LHGDN	15339919, 18669646		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	20813964, 24473683, 26082034, 30675347, 8278027		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	38274814, 39684695	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	20813964, 24473683, 26082034, 30675347		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18669646, 26620801, 38274814	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	24473683, 8393618		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	39684695	Stimulate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type II	Glycogen storage disease	Pubtator	25214719	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	31239701		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	28893927		★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	24180415, 28097232		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	24180415		★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	24725344	Inhibit	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	24307592		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	23496965		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	31481750		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	26464692	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	26464692	Associate	★☆☆☆☆ Found in Text Mining only
Laryngeal Squamous Cell Carcinoma	Laryngeal Carcinoma	BEFREE	23231769, 24817638		★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	21915251		★☆☆☆☆ Found in Text Mining only
Lipoatrophy	Lipoatrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Lipodystrophy	Lipodystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18992912		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18992912		★☆☆☆☆ Found in Text Mining only
Lung Diseases	Lung disease	Pubtator	23055712	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	21474795	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic Metastasis	BEFREE	23231769, 31443698		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31152111, 31443698, 31702632	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	33607849	Stimulate	★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	36544284	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	20841355, 21980040, 21984182, 23722303, 28506831, 31239701, 31443698, 8278027		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of esophagus	Esophagus Neoplasm	CTD_human_DG	15986332		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	31239701		★☆☆☆☆ 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 mouth	Malignant neoplasm of mouth	BEFREE	21915251		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	17199135		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	30310055		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29566309, 31702632		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of tongue	Malignant Neoplasm Of Tongue	CTD_human_DG	19840781		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	20087649, 21980040, 28506831, 28796798, 29566309, 31097690, 31239701		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	CTD_human_DG	15059925		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17968656		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	20067552	Inhibit	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	8278027		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth Neoplasms	CTD_human_DG	15274141		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mouth Neoplasms	Mouth neoplasm	Pubtator	21915251	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Sclerosis	Multiple sclerosis	Pubtator	12355425, 21421798, 23055712	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	12940843, 14610128, 14743435, 17010329, 22537749, 23736536, 24042199, 28196893, 30249602, 30497777, 30578556, 8862510		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	LHGDN	14743435, 16764341, 17568699		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	19726693	Inhibit	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis, Relapsing-Remitting	Multiple Sclerosis	BEFREE	23736536		★☆☆☆☆ Found in Text Mining only
Multiple System Atrophy	Multiple system atrophy	Pubtator	27226619	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	23055712	Associate	★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	10339554, 10559197, 18618007, 22106715, 27075172, 27226619, 27618136, 31215171, 34843556, 38203641	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myofibrillar Myopathy	Myofibrillar myopathy	GENOMICS_ENGLAND_DG	11577372		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	19050726, 20171888, 21130652, 21676617, 23044792, 27226619, 30974319, 31215171		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myofibrillar Myopathy	Myofibrillar myopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myopathy	Myopathy	BEFREE	11019786, 12565801, 16129694, 19007775, 19181099, 21445271, 22040875, 22405853, 23430692, 23590293, 25449278, 26210153, 27226619, 28470624, 28919577, 29162721, 29190034		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	14681890		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, DESMIN-RELATED	Myofibrillar myopathy	BEFREE	12031619, 12861387, 21445271		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED	Hypertonic myofibrillar myopathy	GENOMICS_ENGLAND_DG	21337604		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED	Hypertonic myofibrillar myopathy	ORPHANET_DG	21337604		★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED	Hypertonic myofibrillar myopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
MYOPATHY, MYOFIBRILLAR, FATAL INFANTILE HYPERTONIC, ALPHA-B CRYSTALLIN-RELATED	Hypertonic myofibrillar myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	26351848	Inhibit	★☆☆☆☆ Found in Text Mining only
Myositis Inclusion Body	Myositis	Pubtator	17056255	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	18027848		★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	18669646	Inhibit	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18027848, 23225306, 23231769, 31152111, 31702632, 8482112		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	21329698	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	20804537		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	CTD_human_DG	15964507		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	20804537, 22040875, 23594359, 25601468, 28176658, 29425965		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	25048725		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	23496965		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	ORPHANET_DG	19597569, 24384146, 26622071		★☆☆☆☆ Found in Text Mining only
Nuclear cataract	Cataract	BEFREE	9650087		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	ORPHANET_DG	19597569, 24384146, 26622071		★☆☆☆☆ Found in Text Mining only
Nuclear non-senile cataract	Cataract	BEFREE	9650087		★☆☆☆☆ Found in Text Mining only
Nystagmus Pathologic	Nystagmus	Pubtator	28640093	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	21947364	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	19116904	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	19492781, 28648665		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	26789112	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	31152111, 35302657, 36701406	Associate	★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	25629316, 32210219	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	30675347		★☆☆☆☆ Found in Text Mining only
Polar cataract	Cataract	BEFREE	16877416, 25195561		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	20804537		★☆☆☆☆ Found in Text Mining only
Posterior subcapsular cataract	Capsular cataract	ORPHANET_DG	16877416, 25195561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate carcinoma	Prostate cancer	BEFREE	30310055		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	17199135		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	23840433	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudoaphakia	Cataract	CTD_human_DG	11577372		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	23055712	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	24307592, 25601468		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	25208129		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	BEFREE	28493373		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	19461931	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	25601468		★☆☆☆☆ Found in Text Mining only
Retinitis Pigmentosa	Retinitis Pigmentosa	BEFREE	30110696		★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	18812387, 19204237	Associate	★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	23471649		★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG	15108329		★☆☆☆☆ Found in Text Mining only
Sebaceous Gland Neoplasms	Sebaceous gland neoplasms	Pubtator	19787585	Associate	★☆☆☆☆ Found in Text Mining only
Secondary Open Angle Glaucoma	Open Angle Glaucoma	BEFREE	29850213		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	26351848		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	CTD_human_DG	15274141		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	18604737		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	18604737, 23231769, 23506259, 24725344	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24725344		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29566309, 31702632		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31702632	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	24880201	Associate	★☆☆☆☆ Found in Text Mining only
Tongue Neoplasms	Tongue Neoplasms	CTD_human_DG	19840781		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Triple Negative Breast Neoplasms	Triple Negative Breast Neoplasms	BEFREE	23471649		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	23722303, 36899050	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	26464626	Stimulate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	1721490	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	34418989, 34930465	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	25195561	Associate	★☆☆☆☆ Found in Text Mining only