TTR (transthyretin)

Gene

• Entrez ID: 7276
• Gene name: Transthyretin
• Gene symbol: TTR
• Synonyms (NCBI Gene): ATTR, CTS, CTS1, HEL111, HsT2651, PALB, TBPA, TTN
• Chromosome: 18
• Chromosome location: 18q12.1
• Summary: This gene encodes one of the three prealbumins, which include alpha-1-antitrypsin, transthyretin and orosomucoid. The encoded protein, transthyretin, is a homo-tetrameric carrier protein, which transports thyroid hormones in the plasma and cerebrospinal f

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs11541790	C>T	Pathogenic	Missense variant, coding sequence variant
rs11541795	C>A,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs11541796	A>G	Pathogenic	Missense variant, coding sequence variant
rs11541797	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	Synonymous variant, coding sequence variant
rs28933979	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs28933981	C>T	Conflicting-interpretations-of-pathogenicity, benign-likely-benign, likely-benign, risk-factor	Coding sequence variant, missense variant
rs76992529	G>A	Pathogenic	Coding sequence variant, missense variant
rs79977247	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs104894664	G>A	Pathogenic	Coding sequence variant, missense variant
rs104894665	T>C	Pathogenic	Coding sequence variant, missense variant
rs121918068	T>A,C	Pathogenic	Missense variant, coding sequence variant
rs121918069	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs121918070	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918071	C>A	Pathogenic	Missense variant, coding sequence variant
rs121918072	T>G	Pathogenic	Missense variant, coding sequence variant
rs121918073	C>A	Pathogenic	Missense variant, coding sequence variant
rs121918074	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Missense variant, coding sequence variant
rs121918075	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918076	T>A,C,G	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs121918077	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121918079	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918080	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs121918081	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918082	G>C	Pathogenic	Missense variant, coding sequence variant
rs121918083	T>C	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs121918084	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918085	A>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121918086	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918087	C>G	Pathogenic	Missense variant, coding sequence variant
rs121918088	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918089	A>G	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918090	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121918091	T>C	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121918092	C>T	Uncertain-significance, affects	Missense variant, coding sequence variant
rs121918093	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs121918094	T>C	Pathogenic	Missense variant, coding sequence variant
rs121918095	G>A	Benign-likely-benign, pathogenic, benign	Missense variant, coding sequence variant
rs121918096	GTC>-	Pathogenic	Inframe deletion, coding sequence variant
rs121918097	G>A	Pathogenic	Missense variant, coding sequence variant
rs121918098	A>G	Pathogenic	Missense variant, coding sequence variant
rs121918100	T>C	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs138657343	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143906738	C>T	Benign-likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs267607160	A>C	Pathogenic	Missense variant, coding sequence variant
rs267607161	G>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs377052919	C>T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs386134269	A>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs387906523	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs730881163	C>A	Likely-pathogenic	Coding sequence variant, missense variant
rs730881167	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs730881169	C>A,T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs876658108	G>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs1254341785	C>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1555631387	C>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555631390	->AGTCTG	Pathogenic	Inframe insertion, coding sequence variant
rs1555631393	G>A,C	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1555631402	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1567945632	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1567945684	G>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs1598844112	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1598844184	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1598844213	A>C	Pathogenic	Coding sequence variant, missense variant
rs1598845097	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs1598845164	A>G	Likely-pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT650579	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT650578	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT650577	hsa-miR-1976	HITS-CLIP	23824327
MIRT650576	hsa-miR-4279	HITS-CLIP	23824327
MIRT650575	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT650574	hsa-miR-512-5p	HITS-CLIP	23824327
MIRT626946	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626945	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT626944	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626943	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626942	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626941	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626940	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT626946	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626945	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT626944	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626943	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626942	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626941	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626940	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT532339	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT532332	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532338	hsa-miR-6890-5p	PAR-CLIP	22012620
MIRT532337	hsa-miR-6872-3p	PAR-CLIP	22012620
MIRT532336	hsa-miR-4735-5p	PAR-CLIP	22012620
MIRT532335	hsa-miR-1273f	PAR-CLIP	22012620
MIRT532334	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT532333	hsa-miR-4775	PAR-CLIP	22012620
MIRT532332	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532331	hsa-miR-2113	PAR-CLIP	22012620
MIRT532330	hsa-miR-5010-3p	PAR-CLIP	22012620
MIRT650579	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT650578	hsa-miR-3653-5p	HITS-CLIP	23824327
MIRT650577	hsa-miR-1976	HITS-CLIP	23824327
MIRT650576	hsa-miR-4279	HITS-CLIP	23824327
MIRT650575	hsa-miR-6869-5p	HITS-CLIP	23824327
MIRT650574	hsa-miR-512-5p	HITS-CLIP	23824327
MIRT626946	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626945	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT626944	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626943	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626942	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626941	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626940	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT626946	hsa-miR-6890-3p	HITS-CLIP	23824327
MIRT626945	hsa-miR-6777-3p	HITS-CLIP	23824327
MIRT626944	hsa-miR-1915-3p	HITS-CLIP	23824327
MIRT626943	hsa-miR-6764-5p	HITS-CLIP	23824327
MIRT626942	hsa-miR-1304-3p	HITS-CLIP	23824327
MIRT626941	hsa-miR-4772-3p	HITS-CLIP	23824327
MIRT626940	hsa-miR-2355-5p	HITS-CLIP	23824327
MIRT532339	hsa-miR-590-3p	PAR-CLIP	22012620
MIRT532332	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532338	hsa-miR-6890-5p	PAR-CLIP	22012620
MIRT532337	hsa-miR-6872-3p	PAR-CLIP	22012620
MIRT532336	hsa-miR-4735-5p	PAR-CLIP	22012620
MIRT532335	hsa-miR-1273f	PAR-CLIP	22012620
MIRT532334	hsa-miR-6832-5p	PAR-CLIP	22012620
MIRT532333	hsa-miR-4775	PAR-CLIP	22012620
MIRT532332	hsa-miR-411-5p	PAR-CLIP	22012620
MIRT532331	hsa-miR-2113	PAR-CLIP	22012620
MIRT532330	hsa-miR-5010-3p	PAR-CLIP	22012620

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001523	Process	Retinoid metabolic process	IEA
GO:0003105	Process	Negative regulation of glomerular filtration	IEA
GO:0005179	Function	Hormone activity	IEA
GO:0005515	Function	Protein binding	IPI	986177, 16189514, 16716307, 18272491, 20646067, 21777382, 21900206, 25416956, 29892012, 29997244, 30213975, 31515488, 32296183, 32814053, 33961781
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0006144	Process	Purine nucleobase metabolic process	IBA
GO:0007603	Process	Phototransduction, visible light	IEA
GO:0032991	Component	Protein-containing complex	IEA
GO:0035578	Component	Azurophil granule lumen	TAS
GO:0042562	Function	Hormone binding	IEA
GO:0042802	Function	Identical protein binding	IPI	19861125, 21422279, 21740906, 21777382, 23792159, 23850452
GO:0044877	Function	Protein-containing complex binding	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0140313	Function	Molecular sequestering activity	IEA

Other IDs

• MIM: 176300
• HGNC: 12405
• e!Ensembl: ENSG00000118271

Protein

• UniProt ID: P02766
• Protein name: Transthyretin (ATTR) (Prealbumin) (TBPA)
• Protein function: Thyroid hormone-binding protein. Probably transports thyroxine from the bloodstream to the brain.
• PDB: 1BM7, 1BMZ, 1BZ8, 1BZD, 1BZE, 1DVQ, 1DVS, 1DVT, 1DVU, 1DVX, 1DVY, 1DVZ, 1E3F, 1E4H, 1E5A, 1ETA, 1ETB, 1F41, 1F86, 1FH2, 1FHN, 1G1O, 1GKO, 1ICT, 1III, 1IIK, 1IJN, 1QAB, 1QWH, 1RLB, 1SOK, 1SOQ, 1THA, 1THC, 1TLM, 1TSH, 1TT6, 1TTA, 1TTB, 1TTC, 1TTR, 1TYR, 1TZ8, 1U21, 1X7S, 1X7T, 1Y1D, 1Z7J, 1ZCR, 1ZD6, 2B14
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00576	Transthyretin	32 → 139	HIUase/Transthyretin family	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in serum and cerebrospinal fluid (at protein level). Highly expressed in choroid plexus epithelial cells. Detected in retina pigment epithelium and liver. {ECO:0000269|PubMed:10328977, ECO:0000269|PubMed:3714052}.
• Sequence:

  MASHRLLLLCLAGLVFVSEAGPTGTGESKCPLMVKVLDAVRGSPAINVAVHVFRKAADDT
  WEPFASGKTSESGELHGLTTEEEFVEGIYKVEIDTKSYWKALGISPFHEHAEVVFTANDS
  GPRRYTIAALLSPYSYSTTAVVTNPKE

• Sequence length: 147

Pathways

KEGG:

Thyroid hormone synthesis

Reactome:

Retinoid cycle disease events
The canonical retinoid cycle in rods (twilight vision)
Non-integrin membrane-ECM interactions
Neutrophil degranulation
Retinoid metabolism and transport
Amyloid fiber formation

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
Amyloidosis	Pathogenic; Likely pathogenic	rs2144406525, rs76992529	RCV003447595 RCV004798727	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyloidosis, hereditary systemic 1	Likely pathogenic; Pathogenic	rs113625622, rs1340627860, rs2144409459, rs121918099, rs2144406525, rs1567945702, rs121918082, rs751430411, rs2144409444, rs958191819, rs2144414426, rs121918072, rs1555631387, rs121918074, rs779619795, rs1598844213, rs2144406508, rs1598845097, rs730881168, rs11541790, rs730881169, rs730881163, rs730881167, rs2510933010, rs28933979, rs1567945684, rs1456101911, rs1258875883, rs778412314, rs121918087, rs876661395, rs1567945632, rs121918068, rs121918075, rs121918069, rs121918070, rs121918071, rs121918073, rs76992529, rs11541796, rs121918076, rs79977247, rs121918077, rs387906523, rs104894664, rs121918079, rs121918080, rs121918081, rs267607160, rs121918083, rs121918084, rs121918085, rs121918086, rs121918089, rs121918090, rs121918091, rs121918093, rs121918094, rs121918096, rs104894665, rs121918097, rs121918098, rs121918100, rs267607161, rs2073511444, rs1555631393, rs386134269, rs1555631402, rs1555631390, rs11541795, rs1254341785, rs1598844112, rs1598844184, rs1598845111, rs1598845164, rs1598844187, rs121918078, rs2073510805, rs2073511411, rs1415606768, rs2073493951, rs2073510816, rs2073494217, rs2073494094, rs11541799	RCV001377431 RCV001379926 RCV001378793 RCV001378794 RCV001389002 RCV001389003 RCV001386305 RCV001386306 RCV001534617 RCV001718568 RCV001808154 RCV001999713 RCV001942058 RCV002049135 RCV001904544 RCV001975098 RCV001986200 RCV002024760 RCV002294539 RCV000560691 RCV001228889 RCV003514316 RCV003514317 RCV002444407 RCV003050501 RCV003064510 RCV003064512 RCV003084912 RCV003084913 RCV002839096 RCV002923158 RCV003626611 RCV003335804 RCV000014359 RCV000014360 RCV000014361 RCV000014362 RCV000014363 RCV000014364 RCV000014365 RCV000014366 RCV000014368 RCV000014370 RCV000014371 RCV000014372 RCV000014374 RCV000014377 RCV000014378 RCV000014379 RCV000014380 RCV000014381 RCV000014382 RCV000014383 RCV000014384 RCV000014385 RCV000014386 RCV000014387 RCV000014388 RCV000014389 RCV000014390 RCV000014392 RCV000014393 RCV000014395 RCV000014397 RCV000014398 RCV000014399 RCV000014401 RCV000014402 RCV000014403 RCV004555832 RCV000036373 RCV001857350 RCV000586493 RCV000014410 RCV003516383 RCV003515823 RCV003627531 RCV001054408 RCV001857934 RCV000030571 RCV000030572 RCV000587406 RCV000647353 RCV000663430 RCV000685149 RCV000699004 RCV000700173 RCV000693117 RCV002249489 RCV000819070 RCV000817566 RCV000797923 RCV000817641 RCV000990082 RCV000990083 RCV003514451 RCV001042832 RCV001054625 RCV001048418 RCV001058837 RCV001049648 RCV001220285 RCV001215017 RCV001207386 RCV001211103 RCV001204571 RCV001236265 RCV001239365 RCV001303075	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ATTRV122I amyloidosis	Likely pathogenic; Pathogenic	rs76992529	RCV000853387	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiomyopathy	Pathogenic; Likely pathogenic	rs28933979, rs121918070, rs76992529	RCV000770555 RCV000852477 RCV000211747	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cardiovascular phenotype	Likely pathogenic; Pathogenic	rs113625622, rs2144409459, rs2144406525, rs121918082, rs751430411, rs2144409444, rs958191819, rs121918072, rs121918074, rs779619795, rs730881168, rs11541790, rs730881163, rs104894664, rs121918071, rs876661395, rs28933979, rs121918075, rs121918069, rs121918070, rs121918073, rs76992529, rs121918076, rs121918083, rs121918085, rs121918086, rs121918089, rs121918090, rs121918091, rs121918093, rs121918068, rs121918096, rs104894665, rs121918100, rs267607161, rs730881169, rs1555631393, rs1555631402, rs11541795, rs1254341785, rs1567945632, rs1598844112, rs1598844213, rs1598845097, rs121918078, rs2073511411, rs2073511444, rs2073493951, rs2073494217	RCV002404893 RCV005513039 RCV002377579 RCV002322365 RCV002357290 RCV002424971 RCV002440842 RCV002324398 RCV002324505 RCV003299056 RCV002427758 RCV002381523 RCV005404296 RCV002387687 RCV002439815 RCV002444876 RCV002390106 RCV002354160 RCV002444430 RCV002453258 RCV002433454 RCV002321479 RCV003162251 RCV000243161 RCV002415415 RCV002390107 RCV002321480 RCV003298033 RCV002426503 RCV002453259 RCV002354161 RCV002415416 RCV002433455 RCV002336083 RCV002390108 RCV006342075 RCV002408461 RCV002426504 RCV002453260 RCV002420303 RCV002431479 RCV002415438 RCV002456283 RCV002331319 RCV002458280 RCV002325388 RCV002424785 RCV002381854 RCV002406755 RCV002416270 RCV002416289 RCV002409453 RCV002445306 RCV002445262 RCV002402641 RCV002418694 RCV002402741	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carpal tunnel syndrome	Pathogenic	rs121918091	RCV000763027	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carpal tunnel syndrome 1	Pathogenic; Likely pathogenic	rs28933979, rs121918071, rs76992529, rs121918085, rs121918088, rs121918089, rs267607161	RCV002476964 RCV002504783 RCV002476965 RCV002476966 RCV000014391 RCV002504784 RCV002496359	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease	Pathogenic; Likely pathogenic	rs28933979, rs121918070, rs121918071, rs76992529, rs2073510805	RCV001173292 RCV001173293 RCV001173289 RCV001173290 RCV001173291 RCV001173295	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary amyloidosis	Likely pathogenic; Pathogenic	rs121918089, rs1598845164	RCV003458163 RCV001257097	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperthyroxinemia, dystransthyretinemic	Pathogenic; Likely pathogenic	rs28933979, rs121918071, rs76992529, rs121918085, rs121918089, rs121918091, rs267607161	RCV002476964 RCV002504783 RCV002476965 RCV002476966 RCV002504784 RCV000763027 RCV002496359	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Tip-toe gait	Likely pathogenic; Pathogenic	rs76992529	RCV003319166	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
TTR-related disorder	Pathogenic; Likely pathogenic	rs1555631387, rs28933979, rs76992529	RCV004552134 RCV004549361 RCV003335038	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOID NEUROPATHIES, FAMILIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOID POLYNEUROPATHY TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, FAMILIAL	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, HEREDITARY SYSTEMIC 1, MODIFIER OF	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTRV30M AMYLOIDOSIS	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Brugada syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Conduction disorder of the heart	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSTRANSTHYRETINEMIC EUTHYROIDAL HYPERTHYROXINEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART CONDUCTION DISEASE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroidism	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic cardiomyopathy	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
KIDNEY FAILURE, ACUTE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LUNG NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Primary familial hypertrophic cardiomyopathy	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENILE SYSTEMIC AMYLOIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRANSTHYRETIN RELATED FAMILIAL AMYLOID CARDIOMYOPATHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TTR POLYMORPHISM	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILD-TYPE TRANSTHYRETIN-RELATED AMYLOIDOSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
5q-syndrome	5q-syndrome	BEFREE	17131336		★☆☆☆☆ Found in Text Mining only
AA amyloidosis	AA amyloidosis	BEFREE	28553897, 3457802, 4038761, 6090552		★☆☆☆☆ Found in Text Mining only
Acne	Acne	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Acute Cerebrovascular Accidents	Stroke	BEFREE	28314625		★☆☆☆☆ Found in Text Mining only
Acute Coronary Syndrome	Coronary Syndrome	BEFREE	28827514, 30045342		★☆☆☆☆ Found in Text Mining only
Acute Kidney Insufficiency	Acute Kidney Insufficiency	CTD_human_DG	28885000		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	26943652, 27913947		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	30810839		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	2401717		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	10465115, 10551861, 10611950, 10664115, 10869060, 10882995, 10924339, 11073365, 11412857, 11567048, 11791618, 11907422, 11940682, 12553427, 12557753, 12584275, 12762137, 1353861, 14534839, 14640034, 14673473, 14757117, 1490495, 14966406, 14986482, 1517749, 15185500, 15367866, 15496172, 15523922, 15536164, 15536615, 15588697, 15753613, 15804246, 15949223, 16115295, 16155157, 1652889, 16530227, 17028027, 17466336, 17484624, 17701472, 18022643, 18410945, 1858483, 18925456, 18925459, 19065300, 19075702, 19291513, 19364362, 19372189, 19428025, 19467548, 19626481, 19682646, 20132088, 20697105, 21117248, 21916933, 21992998, 22094129, 22494066, 22592564, 22784244, 23240369, 23306657, 23387326, 23826783, 23914756, 24182678, 24480837, 25060417, 25382970, 25430583, 25550818, 2559819, 25623792, 25973863, 26286643, 26437390, 26529114, 26763274, 26959691, 26986100, 2707291, 27584576, 27663057, 2774586, 27794111, 27884058, 28051995, 28327574, 28412068, 28479268, 28484271, 28527106, 28598015, 28719236, 28813711, 28922609, 28991715, 28993312, 29423915, 29524093, 29581083, 29593496, 29883834, 30091268, 30102818, 30161158, 30361054, 3039062, 30470998, 30615214, 30737830, 31019999, 31253122, 31502419, 31576772, 31760657, 3457802, 3908483, 4038581, 6087810, 6087811, 6099706, 6311926, 7577941, 7627523, 7633183, 7655883, 7804455, 7910950, 8095120, 8293178, 8560986, 8568528, 8737931, 9434098, 9457622, 9631837, 9645810, 9686305, 9748014, 9843084, 9988146		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	GENOMICS_ENGLAND_DG	30120737, 31118583		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	2401717		★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	2646524		★☆☆☆☆ Found in Text Mining only
Adrenomyeloneuropathy	Adrenomyeloneuropathy	BEFREE	2646524		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	8632835		★☆☆☆☆ Found in Text Mining only
Adult type dermatomyositis	Dermatomyositis	BEFREE	20186858		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	BEFREE	21741357		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	16716350, 29087319, 9559653	Inhibit	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	19328595, 19902006, 23028965, 23133543, 24528201, 24756957, 26627638, 27249223, 34151536, 36633448	Associate	★☆☆☆☆ Found in Text Mining only
Alzheimer Disease, Early Onset	Alzheimer disease	BEFREE	7810588		★☆☆☆☆ Found in Text Mining only
Alzheimer disease, familial, type 3	Alzheimer disease	BEFREE	22698061		★☆☆☆☆ Found in Text Mining only
AMYLOID CARDIOMYOPATHY, TRANSTHYRETIN-RELATED	TRANSTHYRETIN-RELATED AMYLOID CARDIOMYOPATHY	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Amyloid Neuropathies	Amyloid neuropathy	Pubtator	1321563, 1644201, 19089844, 20373457, 24030042, 25471118, 25557530, 28943540, 3379433, 34343569, 36204920, 7914929, 8509786	Associate	★☆☆☆☆ Found in Text Mining only
Amyloid Neuropathies Familial	Amyloid neuropathy	Pubtator	10226117, 10465115, 10551861, 10627502, 10854215, 11468357, 11567048, 12200779, 12900507, 1300167, 1362222, 14625827, 15281912, 15485482, 15496172, 15930086, 16115295, 16155157, 1633877, 16386248, 1644839, 1652889, 16862048, 17029284, 17061984, 17076759, 1729893, 17443043, 17466336, 17522146, 18383093, 18435819, 1850190, 1850191, 18606975, 18925456, 18984591, 19188365, 19937650, 20132088, 20175953, 21280184, 21822203, 22053176, 2214348, 22382560, 22843282, 23240369, 24014585, 24030042, 24030829, 24113303, 24358189, 24368466, 24480837, 24572009, 25086037, 25282612, 25382970, 25471118, 25550818, 2590199, 25973863, 26208957, 26286643, 26291275, 26338094, 2646319, 26529114, 26639444, 26986100, 27273296, 27584576, 27589730, 27695122, 28327574, 28478513, 28479268, 28484271, 28957343, 29607936, 29972637, 30131519, 30161158, 30333406, 3041083, 31067424, 31502419, 32493526, 32998442, 32999221, 33348885, 33715921, 3379433, 3457802, 3479441, 35627273, 36204920, 36401333, 36835140, 3722385, 3760189, 3908483, 6736244, 7608709, 7643356, 7867800, 8064809, 8095018, 8095301, 8095302, 8509786, 9475090, 9733771, 9798666	Associate	★☆☆☆☆ Found in Text Mining only
Amyloid Neuropathies Familial	Amyloid neuropathy	Pubtator	19065297	Inhibit	★☆☆☆☆ Found in Text Mining only
Amyloid Neuropathies, Familial	AMYLOID CARDIOMYOPATHY	BEFREE	10071047, 10406623, 10465115, 10506096, 10571824, 10611950, 10611953, 10664115, 10869060, 11073365, 11349736, 11412857, 11567048, 11577236, 11709003, 11791618, 12000196, 12039669, 12433265, 12553427, 12557758, 12584275, 12900507, 1330202, 1353861, 1362222, 14640033, 14640040, 14640041, 14673473, 14757117, 14986482, 15185500, 15249622, 15367866, 15496172, 15536164, 15536615, 15588697, 15753613, 15804246, 15949223, 16076613, 16115295, 16155157, 16544878, 16552785, 16911964, 17028027, 17466336, 17484624, 17701472, 18022643, 18460047, 18506713, 18821042, 18925456, 18925459, 19075702, 19188365, 19364362, 19428025, 19626479, 19665514, 19682646, 19709674, 20060816, 20175953, 20234390, 20503435, 20565072, 20697105, 21056899, 21117248, 2122246, 21463231, 21504341, 21692911, 21992998, 22228785, 22592564, 22620963, 22843282, 22973891, 23240369, 23306657, 23387326, 23797140, 23829269, 23833285, 23931808, 23974642, 24113303, 24182678, 24480837, 24738700, 25060417, 25086037, 25091367, 25382970, 25430583, 25526974, 25604431, 25623792, 2564060, 25973863, 26115788, 26286643, 26342004, 26356411, 26369527, 2646524, 26529114, 26639444, 26734953, 26944161, 26986100, 27072093, 27273296, 27422379, 27584576, 27663057, 27794111, 27859927, 27878441, 27884058, 27919414, 28220836, 28327574, 28393570, 28412068, 28478513, 28479268, 28484271, 28598015, 28625364, 28678039, 28719236, 28762097, 28813711, 28922609, 28957343, 28983659, 28991715, 29018163, 29115008, 29211930, 29249054, 29310464, 29343286, 29423915, 29524093, 29581083, 29607936, 29883834, 30019395, 30091268, 30102818, 30153683, 30161158, 30286783, 30333144, 30333157, 30365625, 30470998, 30552363, 30615214, 30618225, 30685801, 30737830, 30981840, 31001136, 31019999, 31113447, 31209302, 31253122, 31502419, 31576772, 31760657, 3258117, 3416886, 3676699, 4038581, 4079954, 6090552, 6305663, 6517915, 6691355, 7608709, 7633183, 7643356, 7655883, 7910950, 8293178, 8500260, 8509786, 8560986, 9457622, 9475090, 9547003, 9631837, 9686305, 9771673, 9843084, 9988146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloid Neuropathies, Familial	AMYLOID CARDIOMYOPATHY	CTD_human_DG	10529370, 12707074, 15469931, 20030258		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloid Neuropathies, Familial	AMYLOID CARDIOMYOPATHY	LHGDN	12039669, 12095258, 12433265, 14673473, 16053476, 16076613, 16751191, 17577688, 17698792, 18688962, 18925456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloid Neuropathies, Familial	AMYLOID CARDIOMYOPATHY	ORPHANET_DG	18925456		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloid Neuropathies, Familial	AMYLOID CARDIOMYOPATHY	GENOMICS_ENGLAND_DG	30120737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloid Polyneuropathy, British Type (disorder)	Amyloid Polyneuropathy	CTD_human_DG	10529370, 12707074, 15469931, 20030258		★☆☆☆☆ Found in Text Mining only
Amyloid Polyneuropathy, Iowa Type	Amyloid Polyneuropathy	CTD_human_DG	10529370, 12707074, 15469931, 20030258		★☆☆☆☆ Found in Text Mining only
Amyloid Polyneuropathy, Swiss Type	Amyloid Polyneuropathy	CTD_human_DG	10529370, 12707074, 15469931, 20030258		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	10071047, 10439118, 10455100, 10488818, 10524283, 10534258, 10541593, 10611949, 10627135, 10675660, 10691052, 10694917, 10827225, 10842718, 10854214, 10940233, 10973857, 11106758, 11152276, 11243784, 11385707, 11409031, 11412857, 11445644, 11477356, 11569892, 11752443, 11791618, 11812437, 11966704, 12095258, 12146803, 12210373, 12553428, 12584275, 12649341, 12651613, 12729768, 12762138, 12762139, 12771253, 12779320, 12930231, 1351039, 1353040, 1358785, 1436517, 14506715, 14640045, 14724437, 14981241, 14987380, 15080795, 15126690, 15185492, 15185501, 1520326, 15205369, 15377697, 1544214, 15461573, 15478467, 15588697, 15678760, 15804246, 15810051, 15995833, 16101296, 16194874, 16217058, 16359163, 16399646, 16421881, 16530227, 16544878, 16564782, 16690497, 16690499, 1684758, 17028027, 17122946, 17317215, 17431395, 17484624, 17503405, 17522146, 17554795, 17635579, 17701469, 17701470, 17701472, 1772300, 17873539, 17980738, 18276611, 18508604, 18579156, 18729067, 1877623, 18830126, 18925459, 18930252, 18984591, 19061244, 19065295, 19065606, 19075702, 19118530, 19188365, 19241044, 19372706, 19459811, 19627988, 19664600, 19752327, 19781421, 1978774, 19808299, 19922332, 20132088, 20211733, 20376481, 20462362, 20479782, 20536403, 20565072, 2060679, 20660862, 21077797, 21107516, 21117248, 21179560, 2122246, 21334722, 21358362, 21397913, 21537325, 2154345, 21550574, 21668413, 21679902, 21692911, 21774739, 21843040, 21880910, 22080762, 22091638, 22149423, 22184092, 22190302, 22193845, 22329529, 22362898, 22395298, 22439750, 22452550, 22464102, 22471980, 22471981, 22471982, 22494034, 22494066, 22745357, 22795285, 22806634, 22907857, 22973891, 23185504, 23193943, 23193944, 23225390, 23390551, 23400849, 23414091, 23438977, 23579071, 23580146, 23638696, 23713495, 23716704, 23734638, 23797140, 23829269, 23833285, 23901247, 24101373, 24111657, 24131106, 24459092, 24480837, 24613567, 24779883, 25086037, 25211144, 25211232, 25245430, 25291558, 25311231, 25395306, 25430583, 25475560, 25488473, 25510352, 25604431, 25644864, 25645201, 25721874, 25828388, 25872787, 25910794, 26017327, 26020516, 26104852, 26156087, 26193961, 26306725, 26308415, 26339445, 26342004, 26437390, 26459562, 26521788, 26600212, 26639444, 26763274, 26765991, 26828956, 26852880, 27033334, 27051017, 27132122, 27240838, 27311939, 27355239, 27382986, 27466465, 27511979, 27562180, 27618855, 27671053, 28081655, 28081656, 28111409, 28134587, 28159995, 28196196, 28196416, 28213611, 28226286, 28256403, 28272196, 28298647, 28335735, 28338000, 28360830, 28393633, 28395866, 28412170, 28413892, 28425041, 28430919, 28434259, 28478513, 28490654, 28494620, 28501163, 28539873, 28590781, 28605421, 28625364, 28635949, 28704493, 28739313, 2877582, 28803538, 28840452, 28882124, 28891012, 28893208, 28904227, 28906150, 28911993, 2891727, 28920433, 28920684, 28956153, 28960480, 2897192, 28978215, 28991715, 29019809, 29048471, 29067795, 29073801, 29111120, 29153245, 29177547, 29182024, 29184431, 29209781, 29217108, 29277593, 29343286, 29357699, 29394116, 29407121, 29424556, 29476454, 29506729, 29511839, 29512286, 29683383, 29687207, 29779881, 29915031, 29939164, 29962408, 29972637, 29993288, 30009808, 30015648, 30018138, 30024734, 30032658, 30061394, 30091268, 30093168, 30142390, 30169969, 30169971, 30173946, 30198232, 30215702, 30246259, 30284755, 30286783, 30295933, 30327725, 30328212, 30366153, 30374850, 30388377, 30470998, 30478886, 30486686, 30486687, 30489166, 30504675, 30540442, 30552363, 30586695, 30589634, 30618225, 30638075, 30644768, 30649240, 30675806, 30683924, 30688105, 30688456, 30704121, 30733338, 30742933, 30753432, 30793974, 30804345, 30811423, 30847784, 30875761, 30885685, 30912637, 30934952, 30938420, 30981175, 30981840, 31001136, 31005793, 31074293, 31083399, 31098895, 31102606, 31111153, 31119947, 31133063, 31140154, 31163298, 31167790, 31169435, 31172386, 31172685, 31202744, 31209302, 31210553, 31214980, 31216785, 31217346, 31253122, 31268366, 31306033, 31339362, 31369882, 31393717, 31397996, 31399774, 31440205, 31445300, 31452021, 31452022, 31452023, 31452024, 31473362, 31473866, 31502881, 31511348, 31531279, 31566422, 31582656, 31630214, 31648569, 31659433, 31666456, 31676763, 31699321, 31701435, 31706583, 31708371, 31718691, 31726319, 31728576, 31728713, 31731233, 31735059, 31735731, 31740141, 31777097, 31807884, 31821125, 31826067, 31835306, 31845305, 3258117, 3717296, 3818987, 3820203, 4038581, 6099706, 6300852, 6311926, 6394723, 6686039, 6702967, 6782125, 6882448, 6950666, 7018469, 7474944, 7868124, 7923855, 8019560, 8063479, 8095018, 8309582, 8494327, 8579098, 8599154, 8599155, 8604984, 8692810, 8737931, 8857732, 8869389, 8920938, 9017939, 9066351, 9748569, 9798666, 9818883		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyloidosis	Amyloidosis	Pubtator	10226117, 10455100, 10854214, 11752443, 1350083, 14578606, 16115295, 17116243, 17251346, 1729888, 17522146, 18318779, 18474516, 18825272, 19188365, 19808299, 20412473, 21107516, 21191093, 22329529, 22412233, 22464102, 22842046, 24113303, 24184229, 24480837, 25478940, 25488473, 25551524, 25557530, 25686071, 26096568, 26156087, 26339445, 26639444, 26915034, 27422051, 27477961, 27501389, 27992035, 28272196, 28625364, 28635949, 28802308, 2891727, 28920684, 28943540, 29153245, 29394116, 29424556, 29455155, 29615436, 29915031, 29939164, 29941560, 30032658, 30284755, 30478886, 30683924, 30793974, 30801482, 30804345, 30811423, 31133063, 31167790, 31169435, 31189791, 31358790, 31666456, 33121442, 33287192, 33428857, 33645214, 33907095, 33963812, 34018852, 34024775, 34047656, 34343569, 34380564, 34634447, 34668655, 35095067, 35115086, 35283385, 35717381, 35730447, 36128649, 36261369, 36328502, 36343383, 36734834, 36772971, 36930136, 37329289, 37381065, 37431665, 37439769, 37551718, 37610765, 37784196, 37788558, 37875336, 38233397, 38477065, 40088957, 8579098, 9017939, 9068139, 9798666	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyloidosis	Amyloidosis	LHGDN	14578606, 15930086, 17062384, 17968690, 17980738, 18579156		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyloidosis	Amyloidosis	CTD_human_DG	25595224		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyloidosis	Amyloidosis	Pubtator	40016044	Stimulate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyloidosis	Amyloidosis	HPO_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Amyloidosis Familial	Amyloidosis	Pubtator	10455100, 11518707, 11849445, 12050338, 12649341, 14604984, 14968122, 15377697, 1644839, 17317215, 18318779, 2015890, 20840742, 21822203, 22607976, 23901247, 26096568, 26521788, 27051017, 27793437, 27992035, 2840822, 28904227, 2891727, 28943540, 29455155, 30553273, 30589634, 30733338, 32000831, 32999234, 34935565, 36522123, 36734834, 38273457, 38537102, 9748569	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis familial visceral	Visceral amyloidosis	Pubtator	20951486	Associate	★☆☆☆☆ Found in Text Mining only
Amyloidosis, Familial	Amyloidosis	BEFREE	10439117, 10827225, 10845569, 11261421, 11412857, 11518707, 11849445, 12762138, 12832749, 1301926, 1353008, 14968122, 1570831, 16009758, 17453623, 17635579, 18508604, 18925459, 2015890, 20234390, 20979939, 21358362, 22471980, 22856884, 22928869, 23193943, 2360796, 23797140, 24030829, 24053266, 25211232, 25416603, 25604431, 25745667, 25910794, 26096568, 26115788, 26763274, 27291669, 27992035, 28295152, 2840822, 28840452, 2891727, 29246775, 29924456, 30093168, 30683924, 31399774, 31639841, 3258117, 3722385, 4038761, 6686039, 6782125, 7474944, 7649556, 7868124, 8203468, 8721565, 9090525, 9605286		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis, Familial	Amyloidosis	CTD_human_DG	17701470, 18326041		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyloidosis, Familial	Amyloidosis	GENOMICS_ENGLAND_DG	30120737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	UNIPROT_DG	10036587, 10071047, 10211412, 10436378, 10439117, 10611950, 10627135, 10694917, 10842705, 10842718, 10882995, 11243784, 11445644, 11866053, 12050338, 12403615, 12557757, 12771253, 1301926, 1351039, 1362222, 1436517, 1517749, 1520326, 1520336, 15214015, 15217993, 1544214, 15478468, 1570831, 15735344, 16185074, 1656975, 16627944, 1734866, 17453626, 17503405, 17577687, 17635579, 19167329, 1932142, 2046936, 2161654, 23317988, 2363717, 2891727, 3022108, 3135807, 3722385, 3818577, 6487335, 6583672, 6651852, 7655883, 7850982, 7910950, 7914929, 7923855, 8019560, 8038017, 8081397, 8095302, 8133316, 8257997, 8352764, 8382610, 8428915, 8579098, 8990019, 9066351, 9605286, 9733771		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	BEFREE	10465115, 10524283, 10551861, 10611950, 10664115, 10869060, 10882995, 10924339, 11073365, 11412857, 11567048, 11791618, 11866053, 11907422, 11940682, 12440486, 12553427, 12557753, 12584275, 12762137, 12876326, 1353861, 14534839, 14640034, 14673473, 14757117, 1490495, 14966406, 14986482, 1517749, 15185500, 15367866, 15496172, 15523922, 15536164, 15536615, 15588697, 15753613, 15804246, 15949223, 16115295, 16155157, 1652889, 16530227, 17028027, 17466336, 17484624, 17701472, 17968690, 18022643, 18410945, 1858483, 18925456, 18925459, 19065300, 19075702, 19291513, 19364362, 19372189, 19428025, 19467548, 19626481, 19682646, 20132088, 20697105, 21117248, 21135536, 21916933, 21992998, 22080762, 22094129, 22494066, 22551153, 22591216, 22592564, 22784244, 22795285, 22877808, 23185504, 23193944, 23240369, 23306657, 23387326, 23826783, 23914756, 24101373, 24182678, 24286032, 24480837, 24601850, 24767411, 25060417, 25091367, 25367359, 25382970, 25430583, 25550818, 2559819, 25623792, 25743445, 25973863, 26017327, 26243339, 26286643, 26437390, 26459562, 26529114, 26763274, 26959691, 26986100, 2707291, 27355239, 27584576, 27663057, 2774586, 27794111, 27884058, 28051995, 28272196, 28327574, 28412068, 28479268, 28484271, 28527106, 28598015, 28719236, 28813711, 28906150, 28922609, 28991715, 28993312, 29073801, 29250142, 29383369, 29423915, 29424556, 29449366, 29524093, 29550324, 29581083, 29593496, 29883834, 29903517, 29939164, 29954863, 29972757, 30091268, 30102818, 30111340, 30133284, 30161158, 30328212, 30361054, 3039062, 30470998, 30615214, 30683924, 30737830, 30885685, 30938420, 31001136, 31019999, 31078369, 31098895, 31118583, 31167790, 31172685, 31253122, 31502419, 31517333, 31521469, 31576772, 31583784, 31648569, 31659433, 31726319, 31728576, 31760657, 31805416, 3908483, 4038581, 6087810, 6087811, 6099706, 6311926, 7577941, 7627523, 7633183, 7655883, 7804455, 7910950, 8095120, 8293178, 8560986, 8568528, 8737931, 9434098, 9457622, 9631837, 9645810, 9686305, 9748014, 9767365, 9843084, 9988146		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	CLINVAR_DG	10611950, 11140845, 11385707, 11709003, 11752443, 11940682, 12000195, 12039669, 12050338, 12771253, 12779320, 1301926, 1335038, 1362222, 14640030, 14640031, 14695346, 14968122, 14986482, 15110620, 15123043, 15185492, 15249622, 15377697, 15820680, 16194874, 16194875, 16357452, 16448460, 16530227, 17503405, 17577688, 17698792, 1786038, 18022643, 18276611, 18925456, 19372189, 19491989, 19602727, 19709674, 19781421, 19808383, 1981182, 19922332, 1997217, 20209591, 20435197, 2046936, 20686303, 20697105, 20714957, 20937937, 21135536, 2122246, 21540676, 2161654, 21692911, 21992998, 22209138, 22412233, 22580845, 22592564, 22620962, 22745357, 22747647, 22877808, 22928869, 23080516, 23126592, 23279339, 2349941, 2363717, 23713495, 24053266, 24061768, 24073013, 24184229, 24455802, 24474780, 24480837, 24601850, 24633258, 24650283, 24767411, 25044787, 25526974, 25550818, 25551524, 25644864, 25743445, 25819286, 25828388, 25846356, 25997029, 26017327, 26115788, 26123279, 2613237, 26156087, 26208957, 26369527, 26428663, 26521788, 26537620, 26656838, 27238058, 27584576, 27724962, 27858761, 27859927, 2840822, 28635949, 2891727, 29455155, 29941560, 3030336, 3097057, 3722385, 3760189, 4079954, 6736244, 7608709, 7643356, 7655883, 7656439, 7914929, 8038017, 8081397, 8133316, 8509786, 8579098, 8721565, 8960746, 9017939, 9191784, 9196903, 9547003, 9748014, 9748569, 9771673, 9818054		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	GENOMICS_ENGLAND_DG	30120737, 31118583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	Amyloidosis	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Amyloidosis, Primary Cutaneous	Amyloidosis	BEFREE	12762139		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	16313519	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	20583124, 23914756, 26746183, 29244892, 29527688, 30577465		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	20583124	Inhibit	★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	BEFREE	17453623, 18925459, 20979939, 29310464, 30206725, 31223465		★☆☆☆☆ Found in Text Mining only
Anemia	Anemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Anemia Hemolytic	Hemolytic anemia	Pubtator	32994444	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	23546595		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	1664069		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	1664069		★☆☆☆☆ Found in Text Mining only
Aortic Diseases	Aortic disease	Pubtator	19154184	Associate	★☆☆☆☆ Found in Text Mining only
Aortic valve calcification	Aortic valve calcification	BEFREE	27511979		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	29472025		★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic valve stenosis	Pubtator	19154184	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	29472025, 31740363		★☆☆☆☆ Found in Text Mining only
Arrhythmias Cardiac	Cardiac arrhythmias	Pubtator	21280184, 27321809, 31251381, 34338756, 40088216, 9068139	Associate	★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	BEFREE	21810661, 24072177, 25157032, 25445213		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia	Arrhythmogenic right ventricular cardiomyopathy	Pubtator	21810661, 25157032, 25445213, 29221435, 29750433, 36037555	Associate	★☆☆☆☆ Found in Text Mining only
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 2	Arrhythmogenic right ventricular cardiomyopathy	ORPHANET_DG	21810661		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	20435197, 25551524, 31083399		★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	24714506	Stimulate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	34458379	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis	Pubtator	24105469, 31660661, 35605965, 36977548, 39684706	Associate	★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	BEFREE	28040389, 31660661		★☆☆☆☆ Found in Text Mining only
Arthrogryposis	Arthrogryposis multiplex congenita	GENOMICS_ENGLAND_DG	28716623		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	16971399, 26156087, 8579098	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	25551524, 31083399		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	33299376	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	27319745, 29155884, 29246775, 29803981, 29916559, 30298004, 30333491, 30535219, 31680175, 31691645		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29290336, 29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	29290336, 29568937, 30535219, 31251381, 31691645, 32572052, 33682005, 36637017, 36669898, 36941075, 37212191, 39453294, 39851047	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	HPO_DG			★☆☆☆☆ Found in Text Mining only
ATRIAL FIBRILLATION, FAMILIAL, 1 (disorder)	Atrial Fibrillation	ORPHANET_DG	30333491		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	22194935		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	Pubtator	28882124	Associate	★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	BEFREE	31470098		★☆☆☆☆ Found in Text Mining only
Atrioventricular Block	Atrioventricular block	HPO_DG			★☆☆☆☆ Found in Text Mining only
Atrophy	Atrophy	Pubtator	19328595	Associate	★☆☆☆☆ Found in Text Mining only
ATTRV122I amyloidosis	ATTRV122I Amyloidosis	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ATTRV30M amyloidosis	Amyloidogenic Transthyretin Amyloidosis	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AURAL ATRESIA, CONGENITAL	Aural Atresia, Congenital	BEFREE	10935432, 15876981, 18180441, 1858483, 27466465		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31838722	Associate	★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	36199823	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	26339445, 28516329, 8669470		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	26339445	Associate	★☆☆☆☆ Found in Text Mining only
Autonomic Nervous System Diseases	Autonomic nervous system disease	Pubtator	27422051, 28882124, 34668655, 35730447, 36204920, 36261369, 39521178	Associate	★☆☆☆☆ Found in Text Mining only
Autonomic nervous system disorders	Autonomic Central Nervous System Diseases	BEFREE	10842705, 10882995, 20132088, 22094129, 23279339, 25060417, 27072093, 28272196, 31452021, 31473866, 8133316		★☆☆☆☆ Found in Text Mining only
Autosomal Recessive Centronuclear Myopathy	Centronuclear Myopathy	ORPHANET_DG	23975875		★☆☆☆☆ Found in Text Mining only
Autosomal recessive centronuclear myopathy	Centronuclear Myopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	7810588		★☆☆☆☆ Found in Text Mining only
Becker Muscular Dystrophy	Becker Muscular Dystrophy	BEFREE	24813925, 29175173		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	31590408		★☆☆☆☆ Found in Text Mining only
Bicuspid Aortic Valve Disease	Bicuspid aortic valve	Pubtator	36071494	Associate	★☆☆☆☆ Found in Text Mining only
Biventricular hypertrophy	Biventricular hypertrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	36224755	Associate	★☆☆☆☆ Found in Text Mining only
Blood Protein Disorders	Blood protein disorder	Pubtator	35893073	Associate	★☆☆☆☆ Found in Text Mining only
Bohring syndrome	Bohring syndrome	Pubtator	32969603, 37461109	Associate	★☆☆☆☆ Found in Text Mining only
Bone Marrow Diseases	Bone Marrow Diseases	BEFREE	11445644		★☆☆☆☆ Found in Text Mining only
Brain atrophy	Brain atrophy	BEFREE	30671532		★☆☆☆☆ Found in Text Mining only
Brain Ischemia	Cerebral Ischemia	BEFREE	29779881		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	19089844, 26513367, 26920143, 27153670, 28238063		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	26920143, 27153670, 33179096, 34888385, 36805828, 37454130	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	39195217	Inhibit	★☆☆☆☆ Found in Text Mining only
Byzanthine arch palate	High palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	29575536, 32820147, 33179096	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	2356863		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	17828420	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	28700999, 30046591, 32017470, 33861762, 36091935, 36153509, 36378050	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	26943652, 30567728		★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	21708402, 30917846	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	29609043, 31590408		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	16115295, 33928732	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	BEFREE	10541593, 10677864, 10842705, 11073365, 11310831, 11791619, 11907421, 12649341, 12762138, 14987380, 15185492, 15185501, 1570831, 16194874, 16448460, 16465475, 17453626, 17701470, 19752327, 19922332, 20373002, 20536403, 2154345, 21550574, 22335739, 22439750, 22778266, 23193944, 23231421, 23279339, 23713495, 23716704, 24105469, 24358189, 24531746, 24558114, 24818650, 25291558, 25367359, 25721874, 26020516, 26193961, 27188913, 27291669, 27355239, 27544385, 27570551, 27618855, 27625337, 27725266, 28102864, 28213611, 28315399, 28335735, 28553897, 28625364, 28646538, 28667533, 28716623, 28840452, 28904227, 28906150, 28920433, 29109008, 29119312, 29131758, 29238064, 29377983, 29575618, 29687207, 29750433, 29779881, 29870683, 29915031, 30269836, 30374850, 30388377, 30685801, 30885685, 30907141, 30959043, 30981840, 30995779, 31109193, 31122607, 31147888, 31158359, 31169435, 31216785, 31216868, 31440273, 31480867, 31521469, 31566422, 31664938, 31676294, 31713445, 31718691, 31735059, 31735731, 31805416, 31825676, 31849696, 4079954, 7867637, 8692810, 9717013		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	10854215, 12351683, 12649341, 1570831, 16352453, 21865539, 22382560, 24105469, 24358189, 25367359, 25551524, 25557530, 26193961, 26735901, 27511179, 28460244, 28563699, 28625364, 28904227, 29972637, 29997384, 30021846, 31169435, 31178489, 31243866, 31521469, 31664938, 31666456, 32815318, 33226272, 33595762, 33682005, 33870097, 34047656, 34079032, 34338756, 34343569, 34461741, 34618459, 34658264, 35115086, 35544052, 35581137, 35751086, 35903975, 36012532, 36037555, 36543209, 36548481, 36637017, 36772971, 36941075, 36946431, 36977548, 37622577, 37904158, 37967257, 7643356, 8692810, 9068139	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	LHGDN	16465475		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	GENOMICS_ENGLAND_DG	30120737, 31118583		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathies	Cardiomyopathy	Pubtator	31521469, 33827635	Stimulate	★★☆☆☆ 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, Primary	Cardiomyopathy	BEFREE	29775428		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Alcoholic	Cardiomyopathy	Pubtator	29773157	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	15582318, 22335739, 22763267, 22892539, 23418287, 23463027, 24105469, 24119082, 24503780, 25589632, 25961010, 26084686, 26315439, 26567375, 26701604, 26735901, 27625338, 27813223, 28045975, 28296976, 28423146, 29073955, 29386531, 29523227, 29773157, 30150400, 30165862, 30332462, 30851055, 30858397, 31216868, 31251381, 31489791, 31583969, 31712709, 31983221, 32005173, 32041989, 32371228, 32382064, 32603605, 32815318, 32964742, 33135063, 33445410, 33610015, 33678800, 33941202, 34088019, 34137518, 34213952, 34273475, 34461741, 34486814, 34731015, 34905694, 35138330, 35438637, 35728000, 35741855, 36037555, 36270069, 36472615, 36495114, 36525964, 36637017, 37032351, 37191081, 37230314, 37461109, 37477868, 37526719, 37904158, 37914990, 37962957, 37999665, 38052212, 38226618, 38235591, 39425739, 40088216	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	29447731, 30371277, 35893073	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	16115295, 16352453, 22763267, 24412190, 28223422, 28475415, 28771489, 28797094, 32150461, 32344918, 36037555, 36380086, 37335747, 37466024, 37499109, 39260623, 40495216	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic Familial	Cardiomyopathy	Pubtator	36304977	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Restrictive	Restrictive cardiomyopathy	Pubtator	24030042, 36037555	Associate	★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Alcoholic	Cardiomyopathy	BEFREE	29773157		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	10051295, 11788824, 12145747, 15802564, 16733766, 17444505, 18948003, 22335739, 23418287, 24119082, 24503780, 25163546, 25448463, 25589632, 26315439, 26735901, 26899768, 28941705, 30536954		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	BEFREE	11846417, 12114104, 15345656, 16465475, 16483541, 16733766, 20373002, 22335739, 22892539, 23375013, 23418287, 23463027, 24105469, 24531746, 24558114, 25589632, 25651172, 25759365, 26315439, 26473617, 26567375, 26701604, 26777568, 27496873, 27625338, 27813223, 27869827, 28045975, 28065693, 28353642, 29073955, 29093449, 29109008, 29316444, 29523227, 30354343, 30527532, 30700140, 30851055, 30858397, 30959043, 30998980, 31419596, 31705051, 31712709, 31849696, 7869390, 8835872		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	LHGDN	11846417, 15238456, 15345656		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	CTD_human_DG	11846417, 17444505, 27869827		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	GENOMICS_ENGLAND_DG	28716623		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated	Cardiomyopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated, 1g	Cardiomyopathy	UNIPROT_DG	11788824, 11846417, 16465475		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated, 1g	Cardiomyopathy	CLINVAR_DG	12145747, 15728284, 17444505, 18948003, 21520333, 22335739, 22526018, 23418287, 23486992, 23606733, 23975875, 24105469, 24119082, 24395473, 24444549, 24636144, 24980681, 25163546, 25214167, 25448463, 25500009, 25589632, 25739468, 26084686, 26315439, 26701604, 26735901, 26899768, 27353043, 27532257, 27813223, 27868403, 28045975, 28416588, 28611029, 28877744, 29057560		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated, 1g	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 22335739, 27869827, 31251381		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Dilated, 1g	Cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, DILATED, 1S	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9	Cardiomyopathy	UNIPROT_DG	10462489		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9	Cardiomyopathy	CTD_human_DG	10462489, 22335739		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9	Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 27869827, 29575618		★☆☆☆☆ Found in Text Mining only
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9	Cardiomyopathy	CLINVAR_DG	22335739		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	11788824, 11846417, 15345656, 15582318, 16483541, 16733766, 17416352, 19525294, 20373002, 22335739, 22892539, 23375013, 23418287, 23463027, 23686784, 24072177, 24531746, 25448463, 25759365, 26084686, 26315439, 26701604, 26735901, 27576561, 27813223, 27869827, 28045975, 28065693, 28151760, 28228157, 28353642, 28436997, 29073955, 29093449, 29238064, 29386531, 29773157, 30267374, 30332462, 30354343, 30527532, 30858397, 30919088, 30978303, 30993396, 30998980, 31216868, 31705051, 31712709		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	CTD_human_DG	11846417, 17444505, 27869827		★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	BEFREE	8631348		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiovascular Diseases	Cardiovascular disease	Pubtator	26752631, 32371228, 34634447, 35377943, 36930136	Associate	★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	30348306, 30783564		★☆☆☆☆ Found in Text Mining only
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	BEFREE	11409031, 12039669, 12762138, 12762139, 12802212, 1436517, 1656975, 19626479, 20132088, 21733562, 23244293, 26828956, 28413892, 28434259, 30071102, 30169971, 31132964, 8309582		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	LHGDN	16194875		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carpal Tunnel Syndrome	Carpal tunnel syndrome	Pubtator	17443043, 17466336, 20132088, 21733562, 31178489, 32749600, 33428857, 33739616, 34024775, 34079032, 34935565, 36772971, 36941075, 8095301	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	GENOMICS_ENGLAND_DG	30120737		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	UNIPROT_DG	8309582		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Carpal Tunnel Syndrome	Carpal Tunnel Syndrome	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CARPAL TUNNEL SYNDROME, FAMILIAL	Carpal Tunnel Syndrome	BEFREE	11903093, 8309582		★☆☆☆☆ Found in Text Mining only
CARPAL TUNNEL SYNDROME, FAMILIAL	Carpal Tunnel Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Central Nervous System Diseases	Central nervous system disease	Pubtator	12649341, 33348885, 3479441, 39423596, 8579098	Associate	★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	CLINVAR_DG	22335739, 25589632		★☆☆☆☆ Found in Text Mining only
Centronuclear myopathy	Centronuclear Myopathy	BEFREE	23975875		★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	15377697	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Amyloid Angiopathy	Cerebral amyloid angiopathy	BEFREE	11422811, 1517749, 18180441, 1858483, 27466465		★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	BEFREE	30671532		★☆☆☆☆ Found in Text Mining only
Cerebral Palsy	Cerebral palsy	BEFREE	2356863, 30853092		★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	27476523, 27893153, 28314625, 28852391, 28945114, 29155884, 29747616, 29803981, 30561630, 31023126, 31479465		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular Disorders	BEFREE	19328595, 23580146		★☆☆☆☆ Found in Text Mining only
Cerebrovascular Disorders	Cerebrovascular disorder	Pubtator	32425064	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31499118		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	29103023, 31499118		★☆☆☆☆ Found in Text Mining only
Charcot-Marie-Tooth Disease	Charcot-Marie-Tooth Disease	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Charcot-Marie-Tooth disease, X-linked, 1	Charcot-Marie-Tooth disease	BEFREE	2646524		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	8632835		★☆☆☆☆ Found in Text Mining only
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome	Progressive Contractures-Limb-Girdle Weakness-Muscle Dystrophy Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	LHGDN	18275060		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	24586698, 32801339, 34903127, 36224755, 37688511	Associate	★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	28454241		★☆☆☆☆ Found in Text Mining only
Choroid Plexus Papilloma	Choroid Plexus Papilloma	BEFREE	16330944		★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	23829269, 9988146		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Classic multiminicore myopathy	Multiminicore Myopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Classical phenylketonuria	Phenylketonuria	BEFREE	19946178		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	37967257	Associate	★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
CNS disorder	CNS Disorder	BEFREE	16217058		★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	30241302	Associate	★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	24637240		★☆☆☆☆ Found in Text Mining only
Colitis, Collagenous	Colitis	BEFREE	24637240		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	35151825	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21074777		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32859214, 33624434, 36101808	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37499109	Inhibit	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Conduction disorder of the heart	Conduction Disorder Of The Heart	BEFREE	31210553		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Congenital Abnormalities	Congenital abnormalities	Pubtator	36525964	Associate	★☆☆☆☆ Found in Text Mining only
Congenital clubfoot	Congenital Clubfoot	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital contracture	Congenital contracture	BEFREE	29575618		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	BEFREE	28818390		★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital muscular dystrophy (disorder)	Congenital muscular dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	BEFREE	23975875, 28040389, 28716623, 31332964, 31353864, 31664938		★☆☆☆☆ Found in Text Mining only
Congenital myopathy (disorder)	Congenital myopathy	GENOMICS_ENGLAND_DG	28716623		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	BEFREE	10834537		★☆☆☆☆ Found in Text Mining only
Congenital torticollis	Congenital Torticollis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	10051295, 10677864, 10834537, 10842718, 11788824, 14986482, 15238456, 19023132, 19962384, 20435197, 22795285, 23126592, 23283722, 23716704, 24531746, 24818650, 25367359, 25551524, 25589632, 25759365, 26243339, 26315439, 27396593, 27618855, 27813223, 27841876, 28353642, 28958451, 29193283, 29725258, 29903517, 29916559, 30063764, 30093168, 30267374, 30366636, 30374850, 30649240, 30778519, 30989819, 31083399, 31171094, 31216868, 31302046, 31375251, 31713445, 31731233, 31735059, 31740141, 31802835, 31805416, 31821430, 31849696, 7869390		★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Constipation	Constipation	Pubtator	31826067	Associate	★☆☆☆☆ Found in Text Mining only
Contracture	Contracture	Pubtator	26581302, 31660661, 33449170, 35605965	Associate	★☆☆☆☆ Found in Text Mining only
Corneal Opacity	Corneal opacity	Pubtator	1350083, 15930086, 17466336, 24113303	Associate	★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	28827514		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	28827514		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	33299376	Associate	★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	28827514		★☆☆☆☆ Found in Text Mining only
Coronary Stenosis	Coronary Stenosis	BEFREE	28827514		★☆☆☆☆ Found in Text Mining only
CREST Syndrome	CREST Syndrome	BEFREE	26513367		★☆☆☆☆ Found in Text Mining only
Crisponi syndrome	Crisponi syndrome	Pubtator	26329309	Associate	★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	17920806, 25940564, 28218386, 28941045, 29191088, 30085131, 30311063, 30394286, 30805948, 30982182		★☆☆☆☆ Found in Text Mining only
Deglutition Disorders	Deglutition disorder	Pubtator	28882124	Associate	★☆☆☆☆ Found in Text Mining only
Dejerine-Sottas Disease (disorder)	Charcot-Marie-Tooth disease	BEFREE	2646524		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	11445644, 19922332, 23133543, 26156087		★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	16971399, 26156087, 8579098	Associate	★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	15009661, 16716350, 16971399, 19665514, 4038761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive disorder	Mental Depression	BEFREE	16716350, 29053648, 29849106, 30973483, 31339236		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	16716350	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder	Major depressive disorder	Pubtator	16971399	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Depressive Disorder Major	Major depressive disorder	Pubtator	33451315	Associate	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	BEFREE	20186858		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	20186858	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	15238456, 29259905, 30052149, 30348306		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	37884923	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	38354646	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	15238456, 28434967, 29259905, 29760016, 30052149, 30348306		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	25415563, 31504048	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	37884923	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	33029194, 37537394, 37886648	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	18825272, 32235466, 37072623	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	23129325		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	23129325, 29417940, 29747616, 29760016, 31223465		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	34545296	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic Nephropathy	BEFREE	28598015		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	27746673, 28950253, 29259905, 31415795, 31615521, 31847264		★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	28950253	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	31615521	Inhibit	★☆☆☆☆ Found in Text Mining only
Diarrhea	Diarrhea	Pubtator	31826067, 32000831, 7849393, 8095302	Associate	★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	BEFREE	25475560, 29360446, 30327725		★☆☆☆☆ Found in Text Mining only
Disorder of skeletal muscle	Disorder Of Skeletal Muscle	BEFREE	26473617, 31489791		★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	LHGDN	12145747, 18948003		★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	CTD_human_DG	12145747		★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	BEFREE	15728284, 16793270, 17337483, 28295036, 28716623		★☆☆☆☆ Found in Text Mining only
Distal Muscular Dystrophies	Distal Muscular Dystrophy	GENOMICS_ENGLAND_DG	28716623		★☆☆☆☆ Found in Text Mining only
Distal Myopathies	Distal myopathy	Pubtator	12145747, 19797833, 20634290, 22577215, 24618559, 28295036, 29435569	Associate	★☆☆☆☆ Found in Text Mining only
Distal Myopathy 1	Distal Myopathy	CTD_human_DG	12145747		★☆☆☆☆ Found in Text Mining only
Distal myopathy Nonaka type	Distal myopathy	Pubtator	40033712	Associate	★☆☆☆☆ Found in Text Mining only
Disturbance in mood	Mood Disorder	BEFREE	30973483, 31533214		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	19108832, 19710397, 22113227		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	19902006	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	BEFREE	10842705, 10882995, 20132088, 22094129, 23279339, 25060417, 27072093, 27838303, 28272196, 29394116, 31452021, 31473866, 8133316		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	CLINVAR_DG	29941560		★☆☆☆☆ Found in Text Mining only
Dysautonomia	Dysautonomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dysbiosis	Dysbiosis	Pubtator	27894337	Associate	★☆☆☆☆ Found in Text Mining only
Dyskinesia Familial with Facial Myokymia	Dyskinesia, familial, with facial myokymia	Pubtator	22577215	Associate	★☆☆☆☆ Found in Text Mining only
Dystransthyretinemic Euthyroidal Hyperthyroxinemia	Dystransthyretinemic Euthyroidal Hyperthyroxinemia	UNIPROT_DG	1979335		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystransthyretinemic Euthyroidal Hyperthyroxinemia	Dystransthyretinemic Euthyroidal Hyperthyroxinemia	GENOMICS_ENGLAND_DG	30120737		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystransthyretinemic Euthyroidal Hyperthyroxinemia	Dystransthyretinemic Euthyroidal Hyperthyroxinemia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Dystransthyretinemic Euthyroidal Hyperthyroxinemia	Dystransthyretinemic Euthyroidal Hyperthyroxinemia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset myopathy with fatal cardiomyopathy	Myopathy With Fatal Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Edema	Edema	Pubtator	33428857	Associate	★☆☆☆☆ Found in Text Mining only
Encephalopathies	Epileptic encephalopathy	BEFREE	30392460		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	32945477	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Stromal Sarcoma	Endometrial Stromal Sarcoma	BEFREE	31013508		★☆☆☆☆ Found in Text Mining only
Ependymoma	Ependymoma	BEFREE	10869517, 16825954, 2356863		★☆☆☆☆ Found in Text Mining only
Epidermodysplasia Verruciformis	Epidermodysplasia Verruciformis	BEFREE	21714898		★☆☆☆☆ Found in Text Mining only
Episodic Ataxia	Episodic ataxia	Pubtator	16971399	Associate	★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	27771373, 8669470		★☆☆☆☆ Found in Text Mining only
Erectile dysfunction	Erectile Dysfunction	HPO_DG			★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	BEFREE	31802835		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	BEFREE	28295152, 28957343, 30246259		★☆☆☆☆ Found in Text Mining only
Fabry Disease	Fabry disease	Pubtator	28957343, 37914990, 40495216	Associate	★☆☆☆☆ Found in Text Mining only
Facial paralysis	Facial paralysis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Familial Amyloid Neuropathy, Portuguese Type	Amyloid Neuropathy	BEFREE	10506096, 10691052, 11261421, 12584275, 12832749, 1490495, 1517749, 15249622, 16630162, 17453623, 1858483, 19364362, 9631837, 9988146		★☆☆☆☆ Found in Text Mining only
Familial Amyloid Neuropathy, Portuguese Type	Amyloid Neuropathy	CTD_human_DG	10529370, 12707074, 15469931, 20030258		★☆☆☆☆ Found in Text Mining only
Familial Amyloid Polyneuropathy, Appalachian Type	Amyloid Polyneuropathy	CTD_human_DG	10529370, 12707074, 15469931, 20030258		★☆☆☆☆ Found in Text Mining only
Familial Amyloid Polyneuropathy, Jewish Type	Amyloid Polyneuropathy	CTD_human_DG	10529370, 12707074, 15469931, 20030258		★☆☆☆☆ Found in Text Mining only
Familial Amyloid Polyneuropathy, Type IV	Amyloid Polyneuropathy	CTD_human_DG	10529370, 12707074, 15469931, 20030258		★☆☆☆☆ Found in Text Mining only
Familial Amyloid Polyneuropathy, Type V	Amyloid Polyneuropathy	CTD_human_DG	10529370, 12707074, 15469931, 20030258		★☆☆☆☆ Found in Text Mining only
Familial amyloid polyneuropathy, type VI	Amyloid Polyneuropathy	CTD_human_DG	10529370, 12707074, 15469931, 20030258		★☆☆☆☆ Found in Text Mining only
Familial atrial fibrillation	Atrial Fibrillation	Orphanet			★☆☆☆☆ Found in Text Mining only
familial dilated cardiomyopathy	Dilated cardiomyopathy	Pubtator	11752443, 22329529, 28045975, 28296976, 28335735, 31587567, 33348885, 33678800, 34618459, 37032351, 37999665, 7867637	Associate	★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	ORPHANET_DG	11788824		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	CTD_human_DG	11788824		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	BEFREE	22475360, 29109008, 30715562, 31587567		★☆☆☆☆ Found in Text Mining only
Familial dilated cardiomyopathy	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	Arrhythmogenic right ventricular cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Familial isolated dilated cardiomyopathy	Dilated Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
FANCONI ANEMIA, COMPLEMENTATION GROUP C	Fanconi Anemia	BEFREE	19075702, 22494066, 28922609, 8406434		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	30392460		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	30292090	Associate	★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	25671835	Stimulate	★☆☆☆☆ Found in Text Mining only
Gastric Adenocarcinoma	Gastric Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	24030042, 34668655, 34935565	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal disease	Pubtator	31517333	Stimulate	★☆☆☆☆ Found in Text Mining only
Generalized amyotrophy	Amyotrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Generalized glycogen storage disease of infants	Glycogen Storage Disease	BEFREE	28295152		★☆☆☆☆ Found in Text Mining only
Generalized Thyroid Hormone Resistance	Thyroid Hormone Resistance	BEFREE	8784093		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	LHGDN	18682810		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	22856884, 30675806		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	26096568	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	21203405	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	20015865		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35676651, 40617935	Associate	★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	37914990	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen storage disease type II	Glycogen Storage Disease	BEFREE	28295152		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	BEFREE	15833783		★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Gross motor development delay	Developmental delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	26131827		★☆☆☆☆ Found in Text Mining only
Headache	Headache	Pubtator	16971399	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	15377697	Associate	★☆☆☆☆ Found in Text Mining only
Heart Block	Heart Block	BEFREE	30688105		★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	36977548	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	LHGDN	12221049		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	12649341, 17475230, 24072177, 24105469, 24625729, 25759365, 26024954, 26315439, 27188913, 27889803, 28102864, 28771489, 28840452, 29564986, 29747616, 30295933, 31053406, 31849696, 8698351		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	12649341, 17061984, 17251346, 20209591, 20383812, 21810661, 21822203, 21945954, 22736676, 23400849, 24105469, 24630725, 25793032, 26286619, 26849806, 27511179, 29153245, 29518215, 29523227, 30284755, 31139689, 31216868, 31521469, 31864976, 33170376, 33428857, 33449170, 33595762, 34047656, 34711514, 35095067, 36343383, 36494773, 36795029, 36941075, 38226618, 39967429, 8579098, 9017939	Associate	★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart disease	Pubtator	34018852	Stimulate	★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	10677864, 10834537, 10842718, 15238456, 19023132, 19962384, 22795285, 23283722, 23716704, 24531746, 24818650, 25551524, 25589632, 25759365, 26243339, 26315439, 27396593, 27618855, 27813223, 27841876, 28353642, 28958451, 29193283, 29725258, 29903517, 29916559, 30063764, 30093168, 30267374, 30366636, 30374850, 30649240, 30778519, 30989819, 31083399, 31171094, 31216868, 31302046, 31375251, 31731233, 31735059, 31740141, 31805416, 31821430, 31849696, 7869390		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	20435197, 24119082, 25551524, 25637629, 28460244, 30851055, 31554410, 31932463, 32789836, 33237279, 33428857, 33583186, 33678800, 33715921, 33928732, 33963812, 34079032, 34634447, 35095067, 35115086, 35216460, 35377943, 37212191, 37486082, 37805173, 37914935, 40016044	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure	Heart failure	Pubtator	34018852, 34145794	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Heart Failure Diastolic	Heart failure	Pubtator	29889873	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure Systolic	Heart failure	Pubtator	37191081	Associate	★☆☆☆☆ Found in Text Mining only
Heart Failure, Diastolic	Heart Failure	BEFREE	24625729		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	BEFREE	30561630		★☆☆☆☆ Found in Text Mining only
Heart Failure, Right-Sided	Heart Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hematologic Neoplasms	Hematologic Neoplasms	BEFREE	7810588		★☆☆☆☆ Found in Text Mining only
Hepatic Encephalopathy	Hepatic Encephalopathy	BEFREE	30392460		★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	28700999	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	1323058		★☆☆☆☆ Found in Text Mining only
Hepatomegaly	Hepatomegaly	Pubtator	32999221	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Motor and Sensory-Neuropathy Type II	Dysautonomia	BEFREE	2646524		★☆☆☆☆ Found in Text Mining only
Hereditary Myopathy with Early Respiratory Failure	Hereditary Myopathy With Early Respiratory Failure	UNIPROT_DG	15802564		★☆☆☆☆ Found in Text Mining only
Hereditary Myopathy with Early Respiratory Failure	Hereditary Myopathy With Early Respiratory Failure	GENOMICS_ENGLAND_DG	20186049, 27869827, 28716623, 29575618		★☆☆☆☆ Found in Text Mining only
Hereditary Myopathy with Early Respiratory Failure	Hereditary Myopathy With Early Respiratory Failure	BEFREE	20708934, 22577215, 22577218, 23446887, 23486992, 23514108, 23606733, 24444549, 24636144, 25253871, 25500009, 26342832, 27511179, 29361395, 30666435		★☆☆☆☆ Found in Text Mining only
Hereditary Myopathy with Early Respiratory Failure	Hereditary Myopathy With Early Respiratory Failure	CLINVAR_DG	22335739, 23486992, 23606733, 24231549		★☆☆☆☆ Found in Text Mining only
Hereditary myopathy with early respiratory failure	Hereditary Myopathy With Early Respiratory Failure	Orphanet			★☆☆☆☆ Found in Text Mining only
Hereditary Myopathy with Early Respiratory Failure	Hereditary Myopathy With Early Respiratory Failure	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Sensory and Autonomic Neuropathies	Hereditary sensory and autonomic neuropathy	Pubtator	35730447	Associate	★☆☆☆☆ Found in Text Mining only
Heredodegenerative Disorders, Nervous System	Heredodegenerative Disorders, Nervous System	BEFREE	23523753		★☆☆☆☆ Found in Text Mining only
Heterotaxy Syndrome	Heterotaxy syndrome	Pubtator	33928732	Associate	★☆☆☆☆ Found in Text Mining only
Hip Contracture	Hip Contracture	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin Disease	BEFREE	30016788		★☆☆☆☆ Found in Text Mining only
Hodgkin Disease	Hodgkin disease	Pubtator	32235718	Associate	★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	29581083, 30016788		★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington disease	Pubtator	33247616	Inhibit	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis	Hydrops Fetalis	BEFREE	29575618		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	BEFREE	27746673, 28950253, 31415795		★☆☆☆☆ Found in Text Mining only
Hypersensitivity Immediate	Hypersensitivity	Pubtator	26645624	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	25637629, 37451613	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	16130282		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	27618855, 27841876		★☆☆☆☆ Found in Text Mining only
Hyperthyroidism	Hyperthyroidism	BEFREE	29197093		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperthyroxinemia	Hyperthyroxinemia	BEFREE	11385707, 1356051, 1422238, 2987291, 3079602, 3098776, 3416422, 8102146, 8784093		★☆☆☆☆ Found in Text Mining only
Hyperthyroxinemia	Hyperthyroxinemia	Pubtator	1644839, 1979335, 8428916	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	10462489, 10980884, 11433818, 14572168, 15582318, 16115295, 16352453, 16465475, 17716621, 22335739, 24072177, 26024954, 26104852, 28475415, 28553897, 28771489, 28822653, 29506729, 29550324, 29853478, 31628103		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINGEN_DG	10462489, 15582318, 17261657, 19608031, 19679835, 21297871, 25613900, 27625337, 8631348		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic obstructive cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	10462489, 10980884, 11433818, 16352453, 16465475, 22335739, 24072177, 26024954, 26104852, 28553897, 31628103		★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	29523227	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	31521469, 34145794	Stimulate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	31521469	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy Right Ventricular	Right ventricular hypertrophy	Pubtator	28323875	Associate	★☆☆☆☆ Found in Text Mining only
Hypoalbuminemia	Hypoalbuminemia	BEFREE	9434098		★☆☆☆☆ Found in Text Mining only
Hypophosphatasia	Hypophosphatasia	Pubtator	39519277	Associate	★☆☆☆☆ Found in Text Mining only
Hypotension Orthostatic	Orthostatic hypotension	Pubtator	28882124, 30333406, 36644836, 8095302	Associate	★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	BEFREE	29197093		★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	Pubtator	31178489	Associate	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	28950253, 37239452, 38013642	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	31102566		★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	16552785, 22002789, 28590781, 29044209, 29209781		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myopathy, Sporadic	Inclusion body myopathy	BEFREE	10762172		★☆☆☆☆ Found in Text Mining only
Inclusion Body Myositis (disorder)	Inclusion Body Myositis	BEFREE	12874414		★☆☆☆☆ Found in Text Mining only
Infiltrating duct carcinoma of female breast	Infiltrating Duct Carcinoma Of Female Breast	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	38354646	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	16362527		★☆☆☆☆ Found in Text Mining only
Iron Overload	Iron overload	Pubtator	24601850	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27476523		★☆☆☆☆ Found in Text Mining only
Islet Cell Tumor	Islet Cell Tumor	BEFREE	2401717		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	30664807		★☆☆☆☆ Found in Text Mining only
Keratoderma, Palmoplantar	Palmoplantar keratoderma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	12584275, 17701470, 22537653, 30016788		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	1729893, 28272196, 31932463, 35216460	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	12832749		★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	25589632, 38090549	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	32994444	Stimulate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28145481, 29040977, 29713148, 31183748, 31814237		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Acute	Kidney Failure	CTD_human_DG	28885000		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Failure, Chronic	Kidney Failure	BEFREE	9988146		★☆☆☆☆ Found in Text Mining only
Lafora Disease	Lafora Disease	BEFREE	23133543		★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Lattice corneal dystrophy Type II	Lattice corneal dystrophy	BEFREE	2162627		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	22795285, 28165128, 28553897, 31214980, 31718691		★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction	Left ventricular noncompaction	BEFREE	27625337		★☆☆☆☆ Found in Text Mining only
LEFT VENTRICULAR NONCOMPACTION 2	Left ventricular noncompaction	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	BEFREE	30851055		★☆☆☆☆ Found in Text Mining only
Left ventricular noncompaction cardiomyopathy	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Left-Sided Heart Failure	Heart Failure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	19710397		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28407176, 8904886		★☆☆☆☆ Found in Text Mining only
Lewy Body Disease	Lewy body disease	Pubtator	23133543, 26627638	Associate	★☆☆☆☆ Found in Text Mining only
Limb-girdle muscular dystrophy type 2A	Limb-girdle muscular dystrophy	BEFREE	10987085, 9642272		★☆☆☆☆ 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	11278770, 1652460, 19065606, 19134007, 21644509, 23579071, 24849358, 28570028, 28700999, 28876464, 29534342, 29732980, 30139267, 30584453, 30648280, 30721564, 31281477		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	30392460		★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	28025641	Associate	★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	1652460, 23579071, 24849358, 28570028		★☆☆☆☆ Found in Text Mining only
Low-output congestive heart failure	Congestive Heart Failure	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	LHGDN	17683510, 18257091		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	17683510	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	CTD_human_DG	17902193, 19180532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung Neoplasms	BEFREE	30567728		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung Neoplasms	Lung neoplasms	Pubtator	36653483, 39413743	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	28675715, 30170966	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	29958502		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	36653483	Associate	★☆☆☆☆ Found in Text Mining only
Lymphedema	Lymphedema	Pubtator	31353864, 36945066, 39684706	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	30149240		★☆☆☆☆ Found in Text Mining only
Machado-Joseph Disease	Machado-Joseph Disease	BEFREE	16630162, 28813711		★☆☆☆☆ Found in Text Mining only
Malabsorption Syndrome	Malabsorption Syndrome	BEFREE	31802835		★☆☆☆☆ Found in Text Mining only
Malignant Glioma	Glioma	BEFREE	11479223		★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	26131827		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	19089844, 26920143, 27153670, 28238063		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	31275452		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	31507226		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	CTD_human_DG	17902193, 19180532		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	26943652, 30567728		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	29609043, 31590408		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	20949480		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	11069376		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	29804846, 30377862		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10830726, 30387050, 30660664, 30663397, 31525734		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31499118		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	17378745, 18655780, 27381508, 28188047, 28334893, 28771192, 28852391, 30065944, 30149240, 30170780, 30316537, 30762804, 30908744, 31159248, 31825676		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	27894337	Associate	★☆☆☆☆ Found in Text Mining only
Mastocytosis Systemic	Systemic mastocytosis	Pubtator	26156087	Associate	★☆☆☆☆ Found in Text Mining only
Maturity-Onset Diabetes of the Young, Type 1	Mason type diabetes	BEFREE	18513302		★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)	Mason type diabetes	BEFREE	18513302		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	8632835		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	17131336		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23770775, 37377956, 39240165	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	32820147, 39240165	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	23111736	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	8632835		★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	15009661, 16716350, 16971399, 19665514, 4038761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Depression	Mental Depression	BEFREE	16716350, 29053648, 29849106, 30973483, 31339236		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Mental Retardation	Mental retardation	BEFREE	16362527		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29154979		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	35177841	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	30783564		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	29261619		★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Migraine Disorders	Migraine	Pubtator	31251381	Associate	★☆☆☆☆ Found in Text Mining only
Mild cognitive disorder	Cognitive disorder	BEFREE	22698061, 30671532, 31822765		★☆☆☆☆ Found in Text Mining only
Mild Mental Retardation	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder)	Minicore myopathy with external ophthalmoplegia	BEFREE	31053406		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	30783564		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial Diseases	BEFREE	29506729		★☆☆☆☆ Found in Text Mining only
Mitral Valve Prolapse Syndrome	Mitral Valve Prolapse	HPO_DG			★☆☆☆☆ Found in Text Mining only
Monoclonal Gammopathy of Undetermined Significance	Monoclonal Gammapathies	BEFREE	22106346, 29424556		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood Disorder	BEFREE	31533214		★☆☆☆☆ Found in Text Mining only
Mouth Neoplasms	Mouth neoplasm	Pubtator	39337369	Associate	★☆☆☆☆ Found in Text Mining only
Mucinous Adenocarcinoma	Mucinous Adenocarcinoma	BEFREE	26943652		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10462489, 11717165, 12145747, 12669942, 17444505, 1745277, 18948003, 21617319, 21810661, 22335739, 23418287, 23518707, 24105469, 24395473		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	12050338, 12649341, 12900507, 14968122, 15146166, 15281912, 15816901, 16386248, 18326041, 19065297, 19808299, 19937650, 2015890, 21733562, 21822203, 21865539, 22053176, 2349941, 23770775, 24142783, 24474780, 25086037, 25478940, 25550818, 26147092, 2646319, 28478513, 28635949, 30131519, 32571879, 33907095, 34380564, 36008960, 36835140, 8692810, 9789022	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	18061280, 35135578	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	BEFREE	15728284, 20571043, 20634290, 24813925, 25739468, 25877298, 26392295, 27796757, 28716623, 31664938, 31830914		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	28716623		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophies, Limb-Girdle	Limb-Girdle Muscular Dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	11294923, 24813925, 28716623, 29870683, 30959043, 8064303		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	37671549	Associate	★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	24813925, 28554556, 28915917, 29175173, 30053403, 31122607, 3678494		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J	Limb-Girdle Muscular Dystrophy	CLINVAR_DG	12145747, 15728284, 17444505, 18948003, 21520333, 22335739, 22526018, 23418287, 23486992, 23606733, 23975875, 24105469, 24119082, 24395473, 24444549, 24636144, 24980681, 25163546, 25214167, 25448463, 25500009, 25589632, 25739468, 26084686, 26315439, 26701604, 26735901, 26777568, 26899768, 27353043, 27532257, 27813223, 27868403, 28045975, 28416588, 28611029, 28877744, 29057560		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J	Limb-Girdle Muscular Dystrophy	GENOMICS_ENGLAND_DG	20186049, 27869827, 28716623		★☆☆☆☆ Found in Text Mining only
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J	Limb-Girdle Muscular Dystrophy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	BEFREE	10199335, 11092452, 14592910, 16598745, 18071035, 28364296, 28516329, 30107838, 31379720, 8351016, 8669470, 9451594		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia gravis	Pubtator	20926005, 8669470, 9546812	Associate	★☆☆☆☆ Found in Text Mining only
Mycosis Fungoides	Mycosis fungoides	Pubtator	17401465	Associate	★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	20739954		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	22113227		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28117336		★☆☆☆☆ Found in Text Mining only
MYELOPROLIFERATIVE SYNDROME, TRANSIENT	Myeloproliferative disorder	BEFREE	11294923, 12145747, 18948003, 19911250, 20634290, 24395473, 24618559, 25739468, 25877298, 28063976		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	17081044, 30071102, 30729226		★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	31379720		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	BEFREE	23446887, 23486992, 25253871, 27389816, 28436997, 28915917		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	Pubtator	23486992, 39973468	Associate	★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	GENOMICS_ENGLAND_DG	28716623		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	CLINVAR_DG	29941560		★☆☆☆☆ Found in Text Mining only
Myofibrillar Myopathy	Myofibrillar myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathies Nemaline	Nemaline myopathy	Pubtator	30040739	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	BEFREE	12145747, 14572168, 15536615, 15728284, 15802564, 17444505, 17475230, 20133654, 24105469, 24470489, 26342832, 27544385, 28040389, 28338212, 28716623, 28915917, 29435569, 29523227, 29792937, 29851110, 30365001, 30900059, 30919088, 31332964, 31660661, 31664938		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CTD_human_DG	15802564		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	LHGDN	17444505		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myopathy Central Core	Central core myopathy	Pubtator	24105469	Associate	★☆☆☆☆ Found in Text Mining only
Myopathy, Centronuclear, Autosomal Recessive	Myopathy	ORPHANET_DG	23975875		★☆☆☆☆ Found in Text Mining only
Myopathy, Early-Onset, with Fatal Cardiomyopathy	Myopathy With Fatal Cardiomyopathy	BEFREE	17444505		★☆☆☆☆ Found in Text Mining only
Myopathy, Early-Onset, with Fatal Cardiomyopathy	Myopathy With Fatal Cardiomyopathy	ORPHANET_DG	17444505		★☆☆☆☆ Found in Text Mining only
Myopathy, Early-Onset, with Fatal Cardiomyopathy	Myopathy With Fatal Cardiomyopathy	GENOMICS_ENGLAND_DG	20186049, 27869827, 28295036, 29691892		★☆☆☆☆ Found in Text Mining only
Myopathy, Early-Onset, with Fatal Cardiomyopathy	Myopathy With Fatal Cardiomyopathy	CLINVAR_DG	22335739		★☆☆☆☆ Found in Text Mining only
Myopathy, Early-Onset, with Fatal Cardiomyopathy	Myopathy With Fatal Cardiomyopathy	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	Pubtator	18334949	Associate	★☆☆☆☆ Found in Text Mining only
Myopia	Myopia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	BEFREE	28939561, 30275509, 31015287, 31097600, 31379720, 8307566		★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	34499219	Associate	★☆☆☆☆ Found in Text Mining only
Myotonia Congenita	Myotonia congenita	Pubtator	23975875, 29435569, 31332964, 31353864, 31664938, 32778822, 33127292, 33449170, 35605965, 36945066, 39684706, 40033712	Associate	★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	34371182	Associate	★☆☆☆☆ Found in Text Mining only
Nausea	Nausea	Pubtator	31826067	Associate	★☆☆☆☆ Found in Text Mining only
Neck webbing	Neck Webbing	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Necrotizing myopathy	Necrotizing myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10830726, 16276348, 19134007, 21057539, 2356863, 2401717, 24498120, 26920143, 27913947, 28238063, 29778426, 29804846, 30567728, 30810839, 8669470		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Nephrotic Syndrome	Nephrotic Syndrome	BEFREE	30727992		★☆☆☆☆ Found in Text Mining only
Nervous System Diseases	Nervous system disease	Pubtator	14578606, 23240369, 25471118, 25973863, 28802308, 30169969, 30478886, 31502419, 31932463, 32500375, 34047656, 34755769, 35095067, 35730447, 36772971, 36941075, 37768671, 8095302	Associate	★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	11518707, 12584275, 30615214		★☆☆☆☆ Found in Text Mining only
Neurilemmoma	Neurilemmoma	BEFREE	16515552		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	11518707, 36037157	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12051711, 18431252, 19065295, 20804537, 21880910, 22082661, 23523753, 24849358		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11567048, 14757117, 16630162, 18835560, 19682646, 21179560, 22645721, 25382970, 26286643, 27382986, 29155738, 30153683		★☆☆☆☆ Found in Text Mining only
Neurofibromatoses	Neurofibromatosis	BEFREE	30269836		★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Neurofibromatosis	BEFREE	30269836		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	BEFREE	22468856, 28040389		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular Diseases	CLINVAR_DG	23975875		★☆☆☆☆ Found in Text Mining only
Neuromuscular Diseases	Neuromuscular disease	Pubtator	30040739, 32403337, 33127292	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	10869060, 11434723, 11870693, 12584275, 17698792, 18460047, 20132088, 20660862, 21463231, 21692911, 22094129, 23225390, 23914756, 25416603, 25973863, 26115788, 26537620, 2725886, 27291669, 28295152, 28425041, 28539873, 28590781, 28920433, 29246775, 30246259, 30286783, 30350904, 30374850, 30478886, 30644768, 30685801, 31209302, 31216785, 31268366, 31322739, 31368669, 31479652, 31502419, 31744383, 8095302		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Familial isolated hypertrophic cardiomyopathy	Hypertrophic Cardiomyopathy	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	30810839		★☆☆☆☆ Found in Text Mining only
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	BEFREE	29447731		★☆☆☆☆ Found in Text Mining only
Noncompaction cardiomyopathy	Noncompaction cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	25096020	Stimulate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28298172, 29747616, 29760016, 30674069		★☆☆☆☆ Found in Text Mining only
Optic Atrophy Hereditary Leber	Leber hereditary optic neuropathy	Pubtator	18061280	Associate	★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	25940564, 34935565	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	27727007, 29417593, 31223465		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	32930132	Associate	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	10830726, 31525734		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	37239452	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Mucinous Adenocarcinoma	Ovarian adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	29609043, 31590408		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	21372036, 28683725, 30396341, 30786925	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Serous Adenocarcinoma	Ovarian serous adenocarcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	20949480		★☆☆☆☆ Found in Text Mining only
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	23546595		★☆☆☆☆ Found in Text Mining only
Pancreatic Endocrine Carcinoma	Pancreatic Endocrine Carcinoma	BEFREE	2987291		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	24349355	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33144687, 35638462	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis, Chronic	Pancreatitis	BEFREE	20949480		★☆☆☆☆ Found in Text Mining only
Pancytopenia	Pancytopenia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	2356863		★☆☆☆☆ Found in Text Mining only
Paraganglioma	Paraganglioma	BEFREE	2401717		★☆☆☆☆ Found in Text Mining only
Paraplegia	Paraplegia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Paresthesia	Paresthesia	Pubtator	27386769, 31517333, 36261369	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	19665514, 29155738		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	31827228	Associate	★☆☆☆☆ Found in Text Mining only
Paroxysmal atrial fibrillation	Paroxysmal atrial fibrillation	CTD_human_DG	29892015, 30061737		★☆☆☆☆ Found in Text Mining only
Pena Shokeir syndrome type 1	Pena-shokeir syndrome	Pubtator	36495114	Associate	★☆☆☆☆ Found in Text Mining only
Pericardial Effusion	Pericardial effusion	Pubtator	28882124	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral axonal neuropathy	Peripheral axonal neuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral demyelinating neuropathy	Demyelinating neuropathy	BEFREE	29907605		★☆☆☆☆ Found in Text Mining only
Peripheral motor neuropathy	Motor nerve neuritis	BEFREE	14640031, 28762097, 30286783, 8133316		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	11477356, 12649341, 12762139, 1353008, 1570831, 16448460, 17453626, 17484624, 19922332, 2154345, 21550574, 22149423, 23579071, 28646538, 30093168, 30365625, 31583784, 7633183, 8579098, 9066351		★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Peripheral nervous system disease	Pubtator	11567048, 12649341, 16971399, 17076759, 22843282, 24368466, 27422051, 30333406, 35751086, 35903975, 36204920, 36941075, 38281068, 8579098	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	11477356, 12649341, 12762139, 1353008, 1570831, 16448460, 17453626, 17484624, 19922332, 2154345, 21550574, 22149423, 23579071, 28646538, 29343286, 30093168, 30365625, 31583784, 8579098, 9066351		★☆☆☆☆ Found in Text Mining only
Peroneal muscle atrophy	Peroneal muscle atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Phenylketonurias	Phenylketonuria	BEFREE	19946178, 29433755		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	2401717		★☆☆☆☆ Found in Text Mining only
Pleural effusion disorder	Pleural effusion	BEFREE	29428497		★☆☆☆☆ Found in Text Mining only
Polyneuropathies	Polyneuropathy	Pubtator	10854215, 16115295, 20209591, 24113303, 26291275, 27793437, 29972637, 31521469, 33212063, 33373035, 33739616, 34079032, 34668655, 34755769, 36204920, 37266816, 37768671, 38537102, 8692810	Associate	★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	BEFREE	10068110, 10425176, 10436378, 10439118, 10439119, 10611951, 10611953, 10671063, 10677864, 10691052, 10694917, 10772944, 10834537, 10842705, 11019863, 11037187, 11073365, 11111990, 11310831, 11409034, 11422811, 11434723, 11518707, 11676293, 11746170, 12000195, 12403615, 12557753, 12729768, 12762140, 12900507, 1316882, 1353008, 1358785, 1407590, 14534839, 14640031, 14690414, 15080795, 15115956, 15185492, 15185498, 1520326, 15214015, 1544214, 15478468, 15736938, 15793844, 15995833, 16009758, 16115295, 16217058, 1633877, 1656975, 16690499, 16792551, 1734866, 17381508, 17522146, 1850191, 1856582, 18760272, 18930252, 18984591, 19084401, 1932142, 19372706, 19493541, 1978774, 1992765, 1997217, 20462367, 20689228, 21179560, 21280184, 21334722, 21397913, 21537325, 2161654, 2174830, 21822203, 22082661, 22094129, 22471982, 22494066, 22519861, 22592564, 22856676, 22928869, 23193944, 23279339, 2360796, 2363717, 24113303, 24182678, 24211615, 24482069, 25091367, 25416603, 2543515, 25519307, 25526974, 25910794, 2646319, 26513367, 26763274, 26800456, 27238058, 27355239, 27570551, 2774586, 27793437, 27859927, 279930, 28213611, 2823755, 28272196, 2848756, 28508289, 28556268, 28678039, 28893208, 2897849, 28991715, 29209781, 29246775, 29330472, 29423915, 29524093, 29779881, 2981253, 2983415, 29915031, 29993288, 3011930, 30169969, 3017836, 3021142, 3028932, 30295933, 30365625, 3037992, 30388377, 3039062, 30390992, 30489166, 30618225, 3097057, 31098895, 31163298, 3117463, 31209302, 31217346, 31268366, 31521469, 31566422, 3229002, 3478158, 3756182, 3760189, 3762958, 3818577, 6087810, 6087811, 6099706, 6311926, 6487335, 6549130, 6583672, 6651852, 6736244, 6950666, 7490736, 7794243, 7867800, 7987869, 8019560, 8086125, 8095018, 8095120, 8095301, 8095302, 8102146, 8133316, 8187375, 8401513, 8599155, 8692810, 9095004, 9191784, 9268242, 9300069, 9395311, 9733771, 9767365		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	LHGDN	12082059, 15214015, 15793844, 16194875		★☆☆☆☆ Found in Text Mining only
Polyneuropathy	Polyneuropathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Familial	Polyneuropathy	BEFREE	30142390, 6168726, 6300852		★☆☆☆☆ Found in Text Mining only
Polyneuropathy, Motor	Polyneuropathy	BEFREE	16194875, 17094098, 22620963		★☆☆☆☆ Found in Text Mining only
Porphyria Acute Intermittent	Porphyria	Pubtator	19570056	Associate	★☆☆☆☆ Found in Text Mining only
Presenile dementia	Senile Dementia	BEFREE	11445644, 19922332, 23133543, 26156087		★☆☆☆☆ Found in Text Mining only
Primary amyloidosis	Amyloidosis	BEFREE	11569892, 17554795, 19291509, 19781421, 19808299, 25311231, 28598015, 29407121, 30661419, 31498378, 31630214, 31639841, 31807884, 31845305, 4038581		★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria, type I	Hyperoxaluria	BEFREE	30215702		★☆☆☆☆ Found in Text Mining only
Propionic acidemia	Propionic acidemia	BEFREE	25046265		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	11069376		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	22740474	Associate	★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary arterial hypertension	Pulmonary arterial hypertension	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	16840573	Associate	★☆☆☆☆ Found in Text Mining only
Pulmonary Stenosis	Pulmonary Stenosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Re-entrant atrioventricular tachycardia	AV nodal reentry tachycardia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Reactive systemic amyloidosis	Reactive Systemic Amyloidosis	BEFREE	21191093, 28553897, 29277593, 3457802, 4038761, 6090552		★☆☆☆☆ Found in Text Mining only
Refsum Disease	Refsum Disease	BEFREE	2646524		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10869517, 7665147		★☆☆☆☆ Found in Text Mining only
Renal fibrosis	Renal fibrosis	BEFREE	29928474		★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	12832749, 25091367, 28272196		★☆☆☆☆ Found in Text Mining only
Respiratory Distress Syndrome, Newborn	Congenital alveolar dysplasia	BEFREE	29894780		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	BEFREE	23446887, 23486992, 27179057		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Restrictive cardiomyopathy	Restrictive cardiomyopathy	BEFREE	11791619, 16421881, 24315344, 28906150		★☆☆☆☆ Found in Text Mining only
Retinal Degeneration	Retinal degeneration	Pubtator	37884923	Associate	★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal detachment	Pubtator	26096568, 40296025	Associate	★☆☆☆☆ Found in Text Mining only
Rett Syndrome	Rett Syndrome	BEFREE	15578576		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	9543674		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	25527718, 26339445, 29885551		★☆☆☆☆ Found in Text Mining only
Right ventricular failure	Ventricular Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Right Ventricular Hypertrophy	Ventricular hypertrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rigid spine syndrome	Rigid spine muscular dystrophy	Pubtator	36945066	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Ewing	Sarcoma	Pubtator	39486665	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	16716350, 19703508, 28645778		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	17090210	Associate	★☆☆☆☆ Found in Text Mining only
Scleroderma	Scleroderma	BEFREE	9548712		★☆☆☆☆ Found in Text Mining only
Scoliosis	Scoliosis	Pubtator	33449170	Associate	★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	28730771		★☆☆☆☆ Found in Text Mining only
Senile cardiac amyloidosis	Senile Cardiac Amyloidosis	BEFREE	10036587, 10524283, 10571824, 11230714, 11791619, 11866053, 12440486, 12762139, 12876326, 14578606, 14986482, 15523922, 15588697, 16115295, 1626570, 17062380, 17251346, 1729888, 1786038, 17968690, 19291509, 19808299, 2002274, 20435197, 21191093, 21600538, 21679902, 22080762, 22193845, 22329529, 2237288, 22449240, 22464102, 22551153, 22591216, 22795285, 22877808, 23185504, 23193944, 23400849, 24101373, 24184229, 24286032, 24601850, 24767411, 25091367, 25311231, 25367359, 25743445, 25758359, 26017327, 26104852, 26243339, 26253999, 26459562, 26976144, 27188913, 27291669, 27355239, 27618855, 27992035, 28102864, 28152524, 28165128, 28196416, 28395866, 28553897, 28605421, 28840452, 28870641, 28887775, 28906150, 28922609, 29073801, 29217108, 29246775, 29250142, 29261619, 29383369, 29424556, 29449366, 29550324, 29593496, 29882023, 29903517, 29916559, 29939164, 29954863, 29972757, 30111340, 30133284, 30145929, 30328212, 30388377, 30478886, 30486686, 30604309, 30683924, 30742933, 30885685, 30938420, 31001136, 31078369, 31098895, 31118583, 31140154, 31167790, 31171094, 31172386, 31172685, 31302046, 31348283, 31371117, 31375251, 31512197, 31517333, 31521469, 31554435, 31583784, 31630214, 31648569, 31659433, 31718691, 31726319, 31728576, 31735059, 31735731, 31805416, 31821430, 31825676, 31835306, 7850982, 8698351, 9017939, 9767365		★☆☆☆☆ Found in Text Mining only
Senile cardiac amyloidosis	Senile Cardiac Amyloidosis	GENOMICS_ENGLAND_DG	30120737		★☆☆☆☆ Found in Text Mining only
Senile Plaques	Senile Plaques	BEFREE	6950666, 9559653		★☆☆☆☆ Found in Text Mining only
Sensorimotor neuropathy	Sensorimotor neuropathy	CLINVAR_DG	29941560		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	20209591	Associate	★☆☆☆☆ Found in Text Mining only
Severe myopia	Myopia	BEFREE	29259905		★☆☆☆☆ Found in Text Mining only
Sexual Dysfunction	Sexual Dysfunction	BEFREE	31452024		★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick sinus syndrome	Pubtator	27511179, 29568937, 33580673	Associate	★☆☆☆☆ Found in Text Mining only
Sick Sinus Syndrome	Sick Sinus Syndrome	BEFREE	29568937		★☆☆☆☆ Found in Text Mining only
Sleep Apnea, Obstructive	Sleep Apnea	BEFREE	28063976		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Small Fiber Neuropathy	Small Fiber Neuropathy	BEFREE	23306657, 28556268, 29423915, 30246259		★☆☆☆☆ Found in Text Mining only
Spastic cerebral palsy	Spastic Cerebral Palsy	BEFREE	31227002		★☆☆☆☆ Found in Text Mining only
Spinal Cord Diseases	Spinal Cord Diseases	BEFREE	11445644		★☆☆☆☆ Found in Text Mining only
Spinal Muscular Atrophy	Spinal Muscular Atrophy	BEFREE	24813925		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia 12	Spinocerebellar Ataxia	BEFREE	22426495		★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	BEFREE	15523922		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	31692569		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	29101304, 31379941, 31692569		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20957082, 33390791, 37340028, 37373553, 39337369	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	BEFREE	30810839		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of lung	Lung carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
ST segment elevation myocardial infarction	ST Segment Elevation Myocardial Infarction	BEFREE	28433557		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	29804846, 30377862		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	32034058, 34761007	Associate	★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	32789836, 36198883	Associate	★☆☆☆☆ Found in Text Mining only
Subarachnoid Hemorrhage	Subarachnoid hemorrhage	BEFREE	10534258, 11445644		★☆☆☆☆ Found in Text Mining only
SVEINSSON CHORIORETINAL ATROPHY	Sveinsson Chorioretinal Atrophy	BEFREE	4038581		★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	Pubtator	17251346	Associate	★☆☆☆☆ Found in Text Mining only
Synovitis	Synovitis	BEFREE	28941045		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	9548712		★☆☆☆☆ Found in Text Mining only
Tachycardia Ventricular	Ventricular tachycardia	Pubtator	39453294	Associate	★☆☆☆☆ Found in Text Mining only
Tachycardia, Ventricular	Ventricular tachycardia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Tauopathies	Tauopathies	BEFREE	26156087		★☆☆☆☆ Found in Text Mining only
Temporomandibular Joint Disorders	Temporomandibular Joint Disorders	BEFREE	11294923, 12145747, 18948003, 19911250, 20634290, 24395473, 24618559, 25739468, 25877298, 27981266, 28063976		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of Fallot	BEFREE	12393179		★☆☆☆☆ Found in Text Mining only
Tetralogy of Fallot	Tetralogy of fallot	Pubtator	12393179	Stimulate	★☆☆☆☆ Found in Text Mining only
Thoracolumbar scoliosis	Thoracolumbar scoliosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	40429650	Associate	★☆☆☆☆ Found in Text Mining only
Thymoma	Thymoma	BEFREE	10199335, 14592910, 27771373, 29377162, 8351016, 9451594		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	35766333	Associate	★☆☆☆☆ Found in Text Mining only
Thyrotoxicosis	Thyrotoxicosis	BEFREE	8784093		★☆☆☆☆ Found in Text Mining only
Tibial Muscular Dystrophy	Tibial muscular dystrophy	BEFREE	12145747, 14572168, 18948003, 20634290, 24395473, 24618559, 25739468, 25877298		★☆☆☆☆ Found in Text Mining only
Tibial Muscular Dystrophy	Tibial muscular dystrophy	CTD_human_DG	12145747		★☆☆☆☆ Found in Text Mining only
Tibial muscular dystrophy	Tibial muscular dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
TIBIAL MUSCULAR DYSTROPHY, TARDIVE	Tibial muscular dystrophy	BEFREE	11294923, 12145747, 18948003, 19911250, 20634290, 24395473, 24618559, 25739468, 25877298, 28063976		★☆☆☆☆ Found in Text Mining only
TIBIAL MUSCULAR DYSTROPHY, TARDIVE	Tibial muscular dystrophy	UNIPROT_DG	12145747, 12891679		★☆☆☆☆ Found in Text Mining only
TIBIAL MUSCULAR DYSTROPHY, TARDIVE	Tibial muscular dystrophy	GENOMICS_ENGLAND_DG	12145747, 20186049, 27869827		★☆☆☆☆ Found in Text Mining only
TIBIAL MUSCULAR DYSTROPHY, TARDIVE	Tibial muscular dystrophy	CTD_human_DG	12145747		★☆☆☆☆ Found in Text Mining only
TIBIAL MUSCULAR DYSTROPHY, TARDIVE	Tibial muscular dystrophy	CLINVAR_DG	22335739		★☆☆☆☆ Found in Text Mining only
Titin-related limb-girdle muscular dystrophy R10	Limb-girdle muscular dystrophy	Orphanet			★☆☆☆☆ Found in Text Mining only
Toxic multinodular goiter	Toxic Goiter	BEFREE	10487707		★☆☆☆☆ Found in Text Mining only
Transient Cerebral Ischemia	Cerebral Ischemia	BEFREE	29155884		★☆☆☆☆ Found in Text Mining only
Transient Ischemic Attack	Transient Ischemic Attack	BEFREE	29155884		★☆☆☆☆ Found in Text Mining only
Transthyretin related familial amyloid cardiomyopathy	ATTRV122I amyloidosis	ORPHANET_DG	11752443, 25551524		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transthyretin related familial amyloid cardiomyopathy	ATTRV122I amyloidosis	BEFREE	26537620, 31306033		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Transthyretin related familial amyloid cardiomyopathy	ATTRV122I amyloidosis	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	10071047		★☆☆☆☆ Found in Text Mining only
Trigger Finger Disorder	Trigger Finger Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triglyceride storage disease with ichthyosis	Triglyceride Storage Disease With Ichthyosis	BEFREE	20949480, 27068327, 28439981		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	33179096, 40133516	Associate	★☆☆☆☆ Found in Text Mining only
Tyrosinemia, Type I	Tyrosinemia	BEFREE	21765802		★☆☆☆☆ Found in Text Mining only
Upper Extremity Deformities Congenital	Upper extremity deformity, congenital	Pubtator	20132088	Stimulate	★☆☆☆☆ Found in Text Mining only
Upper Extremity Deformities Congenital	Upper extremity deformity, congenital	Pubtator	20132088	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	23374291, 32012118, 32239176, 35087173, 40043910	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Retention	Urinary retention	Pubtator	27477961	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	22091638, 23580146		★☆☆☆☆ Found in Text Mining only
Venous Insufficiency	Venous insufficiency	Pubtator	1729893	Associate	★☆☆☆☆ Found in Text Mining only
Venous Thromboembolism	Venous thromboembolism	Pubtator	29964323	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	BEFREE	27813223		★☆☆☆☆ Found in Text Mining only
Ventricular arrhythmia	Ventricular arrhythmia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	27992035, 29447731, 33928732, 34145794, 36304977, 37610765, 39453294	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Right	Ventricular dysfunction	Pubtator	34273475	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	10854214, 12900507, 18811803, 24119082, 31167790, 31251381, 36835140, 39453294, 7867637, 9789022	Associate	★☆☆☆☆ Found in Text Mining only
Ventricular Remodeling	Ventricular remodeling	Pubtator	29386531, 30275597, 34273475, 35115086, 36128649	Associate	★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	25282612, 33373035	Associate	★☆☆☆☆ Found in Text Mining only
Vitelliform Macular Dystrophy	Vitelliform Macular Dystrophy	BEFREE	29175173		★☆☆☆☆ Found in Text Mining only
Welander Distal Myopathy	Welander Distal Myopathy	CTD_human_DG	12145747		★☆☆☆☆ Found in Text Mining only
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only