HNF1A (HNF1 homeobox A)

Gene

• Entrez ID: 6927
• Gene name: HNF1 homeobox A
• Gene symbol: HNF1A
• Synonyms (NCBI Gene): HNF-1-alpha, HNF-1A, HNF1, HNF1alpha, HNF4A, IDDM20, LFB1, MODY3, TCF-1, TCF1
• Chromosome: 12
• Chromosome location: 12q24.31
• Summary: The protein encoded by this gene is a transcription factor required for the expression of several liver-specific genes. The encoded protein functions as a homodimer and binds to the inverted palindrome 5`-GTTAATNATTAAC-3`. Defects in this gene are a cause

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1169288	A>C,T	Benign, risk-factor	Coding sequence variant, missense variant
rs1169305	A>C,G,T	Benign, not-provided, pathogenic	Coding sequence variant, missense variant
rs137853236	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853237	A>G	Pathogenic	Coding sequence variant, missense variant
rs137853238	G>A	Pathogenic	Coding sequence variant, missense variant
rs137853239	C>G,T	Pathogenic, not-provided	Coding sequence variant, missense variant
rs137853240	G>A	Risk-factor	Coding sequence variant, missense variant
rs137853242	G>A	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs137853243	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853244	C>T	Pathogenic	Coding sequence variant, missense variant
rs137853245	C>A,G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs137853246	G>C	Pathogenic	Coding sequence variant, missense variant
rs137853247	G>A,C	Likely-benign, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs150513055	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922576	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922577	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922578	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs193922580	C>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs193922582	->CT	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922587	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922588	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922589	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs193922592	A>G,T	Pathogenic, likely-pathogenic	Initiator codon variant, missense variant
rs193922593	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922594	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs193922596	->GCA	Likely-pathogenic	Inframe insertion, coding sequence variant
rs193922597	C>A,T	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs193922598	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922599	GAA>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs193922600	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922602	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922603	G>T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs193922604	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs193922605	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs193922606	C>A,G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs386134267	TGGCGCAGCGTAAGTAATGACCCTACCCCGCATCTTCCCTGGGAGG>-	Likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs483353044	G>A,C	Not-provided, conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs551484245	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs587776825	C>-,CC,CCC	Pathogenic	Coding sequence variant, frameshift variant
rs587780357	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs753998395	G>A,T	Uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs754728827	C>T	Pathogenic	Stop gained, coding sequence variant
rs754729248	C>A,G,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs762703502	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs765432081	C>T	Pathogenic	Coding sequence variant, missense variant
rs765596650	T>C	Conflicting-interpretations-of-pathogenicity	Intron variant
rs766790596	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs766956862	C>G,T	Pathogenic	Coding sequence variant, stop gained, missense variant
rs769086289	C>A,T	Pathogenic, likely-benign	Coding sequence variant, stop gained, synonymous variant
rs771108132	C>T	Pathogenic	Coding sequence variant, missense variant
rs774637975	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs776793516	CA>-	Pathogenic	Frameshift variant, coding sequence variant
rs779184183	G>A	Pathogenic	Missense variant, coding sequence variant
rs886039386	C>T	Pathogenic	Coding sequence variant, missense variant
rs886039544	C>T	Pathogenic	Coding sequence variant, missense variant
rs893256143	G>A,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1057520291	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1057520504	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057520779	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057524908	->C	Pathogenic	Frameshift variant, coding sequence variant
rs1064793150	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1131692182	G>A	Likely-pathogenic	Splice donor variant
rs1172328722	G>A	Pathogenic	Coding sequence variant, missense variant
rs1288094664	AAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1315721381	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1463923467	G>A	Pathogenic	Splice acceptor variant
rs1555210478	T>G	Pathogenic	Splice donor variant
rs1555211436	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1555211904	G>A	Pathogenic	Splice acceptor variant
rs1555211927	AAG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1555211975	->GCAT	Pathogenic	Frameshift variant, coding sequence variant
rs1555211999	GT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555212014	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555212248	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555212359	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555212363	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555212396	C>T	Pathogenic	Stop gained, coding sequence variant
rs1555260207	G>-	Pathogenic	Frameshift variant, initiator codon variant
rs1565883507	C>T	Pathogenic	Stop gained, coding sequence variant
rs1565885524	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1565885935	GCCCCCCCCAGGGCCAGGCCCGGGACCTGCGCTG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1565886545	G>A,C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs1565887211	C>T	Pathogenic	Stop gained, coding sequence variant
rs1566092307	C>T	Pathogenic	Stop gained, coding sequence variant
rs1566092362	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1566092470	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1592897526	AAGCCCGAGGTGGCCCAGTACACCCACACGGGCCTGCTCCCGCAGACTATGCTCATCACCGACACCACCAACCTGAGCGCCCTGGCCAGCCTCACGCCCACCAAGCAGGTAAGGTCCAGGCCTGCTGGCCCTCCCTTGGCCTGTGACAGAGCCCCTCACCCCCACATCCCCC>-	Pathogenic	Splice donor variant, intron variant, coding sequence variant, frameshift variant
rs1592898255	CGGCTCAGCGCCAGCCCCAC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593054210	CAG>-	Pathogenic	Intron variant, splice acceptor variant
rs1593058338	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1593058932	G>CC	Pathogenic	Coding sequence variant, frameshift variant
rs1593060859	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593060890	CT>-	Pathogenic	Coding sequence variant, frameshift variant
rs1593060912	->C	Pathogenic	Coding sequence variant, frameshift variant
rs1593060966	AGC>GGT	Likely-pathogenic	Stop gained, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT004646	hsa-miR-194-5p	Review	20029422
MIRT044838	hsa-miR-320a	CLASH	23622248
MIRT437966	hsa-miR-15b-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705650
MIRT437966	hsa-miR-15b-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705650
MIRT437966	hsa-miR-15b-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705650
MIRT437966	hsa-miR-15b-5p	qRT-PCR, Luciferase reporter assay, Western blot	24705650
MIRT737280	hsa-miR-192-5p	qRT-PCR	33024199
MIRT1050535	hsa-miR-1292	CLIP-seq
MIRT1050536	hsa-miR-214	CLIP-seq
MIRT1050537	hsa-miR-3619-5p	CLIP-seq
MIRT1050538	hsa-miR-3670	CLIP-seq
MIRT1050539	hsa-miR-4291	CLIP-seq
MIRT1050540	hsa-miR-4330	CLIP-seq
MIRT1050541	hsa-miR-4471	CLIP-seq
MIRT1050542	hsa-miR-4700-3p	CLIP-seq
MIRT1050543	hsa-miR-635	CLIP-seq
MIRT1050544	hsa-miR-761	CLIP-seq
MIRT1050545	hsa-miR-922	CLIP-seq
MIRT2011604	hsa-miR-2861	CLIP-seq
MIRT2011605	hsa-miR-3192	CLIP-seq
MIRT2011606	hsa-miR-3675-5p	CLIP-seq
MIRT2011607	hsa-miR-661	CLIP-seq
MIRT2243768	hsa-miR-1233	CLIP-seq
MIRT2243769	hsa-miR-4450	CLIP-seq
MIRT2243770	hsa-miR-4747-5p	CLIP-seq
MIRT2243771	hsa-miR-4768-3p	CLIP-seq
MIRT2243772	hsa-miR-4786-3p	CLIP-seq
MIRT2243773	hsa-miR-665	CLIP-seq
MIRT2243774	hsa-miR-671-5p	CLIP-seq
MIRT2389071	hsa-miR-4290	CLIP-seq
MIRT2389072	hsa-miR-4757-5p	CLIP-seq
MIRT2682353	hsa-miR-15a	CLIP-seq
MIRT2682354	hsa-miR-15b	CLIP-seq
MIRT2682355	hsa-miR-16	CLIP-seq
MIRT2682356	hsa-miR-1915	CLIP-seq
MIRT2682357	hsa-miR-195	CLIP-seq
MIRT1050536	hsa-miR-214	CLIP-seq
MIRT1050537	hsa-miR-3619-5p	CLIP-seq
MIRT2682358	hsa-miR-424	CLIP-seq
MIRT1050539	hsa-miR-4291	CLIP-seq
MIRT2682359	hsa-miR-4690-5p	CLIP-seq
MIRT2682360	hsa-miR-497	CLIP-seq
MIRT1050544	hsa-miR-761	CLIP-seq
MIRT1050545	hsa-miR-922	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
HNF4A	Unknown	9792724
RXRA	Unknown	11027556
ZHX2	Unknown	18194454

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000785	Component	Chromatin	ISA
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	12453420, 15961790
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001889	Process	Liver development	IEA
GO:0003677	Function	DNA binding	IDA	1677179, 1989880, 10333057, 12530534
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IDA	1989880, 11980910, 12530534
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	1677179, 11980910, 14500717, 19264593, 21988832, 33961781, 35140242, 35512704
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12530534, 15355349
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IDA	12530534, 15355349
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IDA	10330009
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0030073	Process	Insulin secretion	IEA
GO:0030073	Process	Insulin secretion	IMP	10333057
GO:0031016	Process	Pancreas development	IEA
GO:0032991	Component	Protein-containing complex	IDA	11980910
GO:0035565	Process	Regulation of pronephros size	IMP	15355349
GO:0035623	Process	Renal D-glucose absorption	IMP	11269503
GO:0042593	Process	Glucose homeostasis	IMP	11269503, 15277395
GO:0042803	Function	Protein homodimerization activity	IPI	1677179
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	1989880, 11980910, 12453420, 12530534
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0046323	Process	D-glucose import	IMP	11269503
GO:0046982	Function	Protein heterodimerization activity	IDA	12530534
GO:0046983	Function	Protein dimerization activity	IPI	12453420
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IGI	15355349

Other IDs

• MIM: 142410
• HGNC: 11621
• e!Ensembl: ENSG00000135100

Protein

• UniProt ID: P20823
• Protein name: Hepatocyte nuclear factor 1-alpha (HNF-1-alpha) (HNF-1A) (Liver-specific transcription factor LF-B1) (LFB1) (Transcription factor 1) (TCF-1)
• Protein function: Transcriptional activator that regulates the tissue specific expression of multiple genes, especially in pancreatic islet cells and in liver (By similarity). Binds to the inverted palindrome 5'-GTTAATNATTAAC-3' (PubMed:10966642, PubMed:12453420)
• PDB: 1IC8, 2GYP, 8PI7, 8PI8, 8PI9, 8PIA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF04814	HNF-1_N	8 → 168	Hepatocyte nuclear factor 1 (HNF-1), N terminus	Family
  PF04812	HNF-1B_C	282 → 540	Hepatocyte nuclear factor 1 (HNF-1), beta isoform C terminus	Family
  PF04813	HNF-1A_C	542 → 630	Hepatocyte nuclear factor 1 (HNF-1), alpha isoform C terminus	Family

• Tissue specificity: TISSUE SPECIFICITY: Liver.
• Sequence:

  MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAGEGPLDKGESCGGGRGELAEL
  PNGLGETRGSEDETDDDGEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKMVK
  SYLQQHNIPQREVVDTTGLNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTHA
  GQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAE
  CIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPPGPGPGPALP
  AHSSPGLPPPALSPSKVHGVRYGQPATSETAEVPSSSGGPLVTVSTPLHQVSPTGLEPSH
  SLLSTEAKLVSAAGGPLPPVSTLTALHSLEQTSPGLNQQPQNLIMASLPGVMTIGPGEPA
  SLGPTFTNTGASTLVIGLASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPV
  QSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTK
  QVFTSDTEASSESGLHTPASQATTLHVPSQDPAGIQHLQPAHRLSASPTVSSSSLVLYQS
  SDSSNGQSHLLPSNHSVIETFISTQMASSSQ

• Sequence length: 631

Pathways

KEGG:

Maturity onset diabetes of the young

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
Clear cell carcinoma of kidney	Pathogenic	rs587776825	RCV000016063	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes mellitus	Pathogenic; Likely pathogenic	rs893256143, rs765432081, rs779184183, rs1877113317, rs1877168655, rs1876671395, rs768753432, rs199890776	RCV001175316 RCV001175312 RCV001175315 RCV001172532 RCV001172533 RCV001175313 RCV001175314 RCV001175320	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes mellitus type 1	Pathogenic	rs587780357, rs587776825	RCV000117232 RCV000117225	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
DiGeorge syndrome	Pathogenic	rs587776825	RCV003445070	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatic adenomas, familial	Pathogenic	rs587776825, rs137853238, rs1057520291	RCV000022617 RCV005621851 RCV005645084	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma	Pathogenic	rs1057520291	RCV005900832	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
HNF1A-related disorder	Likely pathogenic; Pathogenic	rs2135832689, rs1180119907, rs1475566248, rs587780357, rs1555211935, rs749673816, rs2499998322, rs2500010485, rs2135839897, rs137853238, rs2135851715, rs2500004981, rs2499995743, rs1876968297, rs1057520291, rs1057520779, rs893256143, rs765432081, rs762703502, rs1555212248, rs193922596, rs1172328722, rs1286294151	RCV003416457 RCV004753394 RCV003892878 RCV004752747 RCV003403728 RCV004753547 RCV003402464 RCV003418981 RCV004731539 RCV004752708 RCV003909275 RCV003914469 RCV003971685 RCV004731663 RCV004752888 RCV003983038 RCV004752890 RCV004730957 RCV003424057 RCV003403166 RCV004752728 RCV003928186 RCV003392554	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperinsulinism due to HNF1A deficiency	Pathogenic	rs137853245	RCV002254266	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Keratoderma-ichthyosis-deafness syndrome, autosomal recessive	Likely pathogenic	rs2135854461	RCV002276524	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Maturity-onset diabetes of the young	Pathogenic; Likely pathogenic	rs1249563793, rs1877096238, rs2135847490, rs2135854451, rs2135820413, rs1180119907, rs2135819325, rs587780357, rs1057520291, rs2135832456, rs371717826, rs2135819737, rs1399164820, rs749673816, rs2500005690, rs2499987472, rs2499987848, rs1364708195, rs1555211904, rs2135839880, rs2499997569, rs2135842812, rs193922583, rs766956862, rs886039544, rs886039386, rs2500001477, rs1432009039, rs2499998409, rs2135848297, rs1877301961, rs2500010393, rs2135832551, rs2135838920, rs2500010501, rs2135847863, rs2500009433, rs587776825, rs137853236, rs137853237, rs137853238, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2500002688, rs754728827, rs1057520779, rs893256143, rs1057520504, rs1057524898, rs1057524908, rs769086289, rs765432081, rs1131692182, rs762703502, rs1555212248, rs1555212359, rs1555260207, rs1555210478, rs1555211426, rs1555211434, rs1555211436, rs1555211448, rs1555211922, rs1555211999, rs1555212014, rs1555211975, rs779184183, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922593, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs1555212396, rs1555212749, rs1555212363, rs771108132, rs1566092307, rs753998395, rs1565885935, rs1565883507, rs1172328722, rs1286294151, rs1565886545, rs1565887211, rs776793516, rs1593060859, rs1593058338, rs1593060890, rs1593060912, rs1593054210, rs1592897526, rs1593058932, rs1593060966, rs1877324101, rs1877113317, rs1877168655, rs1876671395, rs1876084046, rs1877309778, rs1876667856, rs1308016430, rs1877175078, rs371807951, rs1458430820, rs1877293842, rs1876669134, rs1876669962, rs1877180449	RCV002464450 RCV002319739 RCV001526900 RCV004690129 RCV003317532 RCV003339756 RCV002440900 RCV002354301 RCV002051968 RCV002052041 RCV004690266 RCV002352955 RCV002222898 RCV003329438 RCV002400403 RCV004017918 RCV002455125 RCV002337808 RCV002341022 RCV002344408 RCV002362483 RCV002430383 RCV002374291 RCV002390074 RCV002465366 RCV001248918 RCV002418093 RCV003317670 RCV003330061 RCV003330063 RCV003330065 RCV003330066 RCV003330067 RCV003344183 RCV003388531 RCV003479762 RCV004783079 RCV003577091 RCV001506982 RCV001526899 RCV002464065 RCV002051786 RCV002326678 RCV002463589 RCV005237382 RCV002464066 RCV004018140 RCV001526667 RCV002338986 RCV002365490 RCV002356548 RCV002051850 RCV002463446 RCV002463447 RCV003298551 RCV002464213 RCV002319506 RCV002376922 RCV000677301 RCV002329196 RCV002329217 RCV002329216 RCV002319512 RCV002319513 RCV002319514 RCV002319515 RCV002463451 RCV002463715 RCV002329221 RCV002319520 RCV002463717 RCV002051863 RCV002326696 RCV002326697 RCV002463433 RCV002326703 RCV002464080 RCV002326705 RCV002326706 RCV002319430 RCV002319432 RCV000030505 RCV002463434 RCV002326709 RCV002326710 RCV002464081 RCV002330997 RCV002331096 RCV002319540 RCV004822159 RCV002331315 RCV002464290 RCV002319567 RCV002319570 RCV002464295 RCV002463457 RCV002332523 RCV002319569 RCV002386312 RCV002319609 RCV002463460 RCV005408621 RCV002319610 RCV002319611 RCV002320206 RCV002463459 RCV002319613 RCV002319612 RCV003490031 RCV002327378 RCV002319669 RCV002319670 RCV002319671 RCV001194005 RCV002463787 RCV002327605 RCV002464418 RCV002319684 RCV003329387 RCV002241648 RCV002319686 RCV002319690 RCV002319691 RCV002319694	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Maturity-onset diabetes of the young type 3	Pathogenic; Likely pathogenic	rs1249563793, rs2135841238, rs2135847592, rs2135854451, rs2135841592, rs766191969, rs886039386, rs587780357, rs2135839643, rs1876081310, rs2135832632, rs1877116749, rs2500005524, rs775893674, rs2500005690, rs2135850957, rs1877318758, rs752886203, rs2499988006, rs1248594692, rs2500002756, rs2500009918, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs2135847381, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs769086289, rs765432081, rs1131692182, rs762703502, rs1555212248, rs1555212359, rs1555212014, rs1555211904, rs779184183, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922593, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs1555212749, rs1566092307, rs753998395, rs1565885935, rs1172328722, rs1286294151, rs1565886545, rs776793516, rs1593060859, rs1593060890, rs1593058932, rs1364708195, rs1876084046, rs1877309778, rs1876667856, rs1308016430, rs1877175078, rs371807951, rs1458430820, rs1877293842	RCV003333155 RCV001527410 RCV001527411 RCV002285494 RCV002285498 RCV002285499 RCV001818100 RCV002285267 RCV002466721 RCV002227429 RCV002466752 RCV002285542 RCV002285543 RCV002285544 RCV002285545 RCV002285546 RCV002285548 RCV002285549 RCV003319948 RCV003319953 RCV003333891 RCV003494538 RCV000016062 RCV000016065 RCV000016066 RCV000016067 RCV002288493 RCV000016070 RCV000016079 RCV000016080 RCV000016081 RCV000016082 RCV000016083 RCV000016084 RCV004560522 RCV001249012 RCV004719817 RCV002285329 RCV002472310 RCV003319352 RCV002285337 RCV002272261 RCV000495949 RCV000502914 RCV000501374 RCV000503455 RCV006249646 RCV002285352 RCV002285353 RCV000030476 RCV000030478 RCV000030483 RCV000030489 RCV000030495 RCV000030497 RCV000030498 RCV000030501 RCV000030504 RCV002285260 RCV000030506 RCV000030507 RCV000030511 RCV000030512 RCV000030513 RCV000625678 RCV003319400 RCV001248948 RCV000709725 RCV000722049 RCV002285409 RCV000754807 RCV000754812 RCV000988922 RCV003485671 RCV004559831 RCV004797889 RCV005638544 RCV002285453 RCV001197559 RCV001248888 RCV001248892 RCV001248943 RCV001248991 RCV001248994 RCV001253694	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monogenic diabetes	Pathogenic; Likely pathogenic	rs1249563793, rs2135841238, rs2135854451, rs2135832753, rs2135820404, rs2135841224, rs1566092362, rs2135841592, rs2135832689, rs2135841113, rs2135832685, rs2135832675, rs2135841104, rs2135841769, rs2135832668, rs1565886545, rs769086289, rs2135839997, rs2135820413, rs1180119907, rs2135819368, rs1364708195, rs2135832792, rs1475566248, rs2135820424, rs886039386, rs193922592, rs2135819325, rs2135819349, rs2135819354, rs2135819583, rs2135832474, rs760640415, rs587780357, rs2135832611, rs1057520291, rs2135819422, rs2135819438, rs2135819527, rs2135819387, rs2135819400, rs1275805852, rs371717826, rs2135819552, rs2135819834, rs2135819895, rs2135819908, rs2135819929, rs2135819979, rs905788991, rs2135820197, rs2135820267, rs765432081, rs1388926124, rs1001854457, rs1057520779, rs2135839892, rs1555211935, rs2135819670, rs2135841855, rs1057520504, rs762703502, rs1555212014, rs2135854397, rs2135832423, rs2135832426, rs1399164820, rs2135850957, rs2135845908, rs1131692182, rs2135819704, rs2135854520, rs2135854597, rs2135854670, rs587778399, rs2135851518, rs2135832562, rs2135832615, rs749673816, rs2135839346, rs2135832632, rs2135854461, rs752886203, rs2499987472, rs2135839880, rs2500001248, rs2499987661, rs2500001387, rs886039544, rs2499988006, rs1432009039, rs2499987474, rs2135838920, rs2135839897, rs2499987988, rs2499995544, rs2499995569, rs2499995666, rs2499995670, rs2499995695, rs2499995717, rs1876675633, rs2135841512, rs587776825, rs137853236, rs137853237, rs137853238, rs2135818776, rs1566092470, rs137853243, rs137853244, rs137853245, rs1876669962, rs2135832585, rs2499987564, rs2499987570, rs2499995510, rs754728827, rs893256143, rs1057524898, rs1057524908, rs1555212248, rs1555212359, rs1555260207, rs1555210478, rs753998395, rs1555211426, rs1555211434, rs1555211436, rs1555211448, rs1555211922, rs1555211999, rs1555211904, rs1555211975, rs779184183, rs193922576, rs193922578, rs193922582, rs193922588, rs193922593, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs1555212396, rs771108132, rs1566092307, rs1565883507, rs1172328722, rs1286294151, rs766956862, rs1593058932, rs1877324101, rs1876667856, rs1308016430, rs371807951, rs1876669134	RCV001796448 RCV001810509 RCV002274204 RCV005054372 RCV001794537 RCV001794540 RCV001794541 RCV001794542 RCV001794543 RCV001794544 RCV001794548 RCV001794549 RCV001794550 RCV001794551 RCV001794552 RCV001794553 RCV001794555 RCV001794556 RCV001794560 RCV001794564 RCV001794565 RCV001810527 RCV001810528 RCV001810529 RCV001810533 RCV001810534 RCV002222075 RCV002074376 RCV003446924 RCV005054376 RCV004733383 RCV002260404 RCV002222076 RCV001843398 RCV001843399 RCV001843400 RCV001843401 RCV001843402 RCV001843403 RCV001843405 RCV002222019 RCV002260406 RCV003493884 RCV002208718 RCV002208720 RCV002208723 RCV002208725 RCV002208726 RCV002208727 RCV002208728 RCV003326011 RCV002222080 RCV002222082 RCV002222083 RCV002222084 RCV002222086 RCV002222088 RCV002222091 RCV002222092 RCV002222093 RCV002222101 RCV002222102 RCV002222103 RCV002222104 RCV002222105 RCV002222106 RCV002222107 RCV002222109 RCV002222112 RCV002222115 RCV002222116 RCV002222119 RCV002250401 RCV002250403 RCV002250404 RCV002250407 RCV002250409 RCV002250410 RCV002250411 RCV002250412 RCV002250415 RCV002250417 RCV002250418 RCV002250420 RCV002260477 RCV002260478 RCV002260480 RCV002260481 RCV002260482 RCV002260483 RCV002274260 RCV002274266 RCV002274268 RCV004572114 RCV003318512 RCV003445171 RCV003326016 RCV002468907 RCV002468908 RCV004733522 RCV005233026 RCV002222028 RCV002222027 RCV005230487 RCV005402028 RCV003330362 RCV003330363 RCV003330365 RCV005402031 RCV003481521 RCV003494035 RCV003494037 RCV003494038 RCV003494039 RCV003494040 RCV003494041 RCV003494042 RCV003494043 RCV004733624 RCV004798049 RCV002221997 RCV001810399 RCV001794449 RCV000445525 RCV001794450 RCV002221998 RCV002221999 RCV001794451 RCV001248962 RCV003885441 RCV004574971 RCV004574972 RCV004574973 RCV004574974 RCV004574976 RCV002222031 RCV002222032 RCV002222034 RCV002222035 RCV002222033 RCV000445512 RCV000445449 RCV001810449 RCV001810450 RCV002250367 RCV001810451 RCV001810452 RCV001810453 RCV001843360 RCV002222037 RCV001796089 RCV002222038 RCV002222039 RCV002259985 RCV002250371 RCV002259986 RCV002250372 RCV002222043 RCV002222045 RCV002222047 RCV002222046 RCV001810403 RCV002222002 RCV002250353 RCV002222003 RCV001843354 RCV002222004 RCV002222005 RCV002222007 RCV002250356 RCV002222009 RCV002222010 RCV001810406 RCV002222012 RCV001794464 RCV001248911 RCV001810462 RCV001843362 RCV002222048 RCV002066999 RCV001796178 RCV005054257 RCV001810483 RCV002274095 RCV001796196 RCV001796203 RCV001810489 RCV001810490 RCV003994190 RCV003446599 RCV002260132 RCV004733216 RCV001810500 RCV005401815 RCV001796420 RCV004570669	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neoplasm	Likely pathogenic; Pathogenic	rs1593060859	RCV005232023	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Type 1 diabetes mellitus 20	Pathogenic	rs1249563793, rs766191969, rs483353044, rs587776825, rs137853238, rs1566092470	RCV001335402 RCV002466697 RCV002466818 RCV001255183 RCV000016068 RCV000016076	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast carcinoma	Benign	ClinVar GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CARCINOMA, RENAL CELL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEREBRAL INFARCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOLELITHIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Chromophobe renal cell carcinoma	Benign	ClinVar Orphanet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
CHRONIC ISCHEMIC HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLEAR CELL PAPILLARY RENAL CELL CARCINOMA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERIOSCLEROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY HEART DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES DUE TO AUTOIMMUNE PROCESS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES DUE TO IMMUNE MEDIATED PANCREATIC ISLET BETA-CELL DESTRUCTION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes mellitus type 2, susceptibility to	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 20	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, KETOSIS-PRONE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NONINSULIN-DEPENDENT	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 1	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, TYPE 2	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GALLSTONES	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gestational diabetes	Benign	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERGLYCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERINSULINISM DUE TO HEPATOCYTE NUCLEAR FACTOR 1-ALPHA DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPIDEMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGLYCEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC DIABETES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin resistance, susceptibility to	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSULIN RESISTANT DIABETES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Insulin-resistant diabetes mellitus	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY ONSET DIABETES MELLITUS IN YOUNG	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-onset diabetes of the young type 1	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3	—	CTD, HPO CTD, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MODY	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain risk allele; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian cancer	Benign; Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PANCREATIC DUCTAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSYCHIATRIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Reduced delayed hypersensitivity	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Symphalangism affecting the proximal phalanx of the 4th finger	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRIPLE-NEGATIVE BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Type 2 diabetes mellitus	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar ClinVar, GWAS catalog ClinVar, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	20930648		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	LHGDN	12701690, 17393984		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	21348892, 27757985		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma Of Esophagus	Esophageal Cancer	BEFREE	25863539		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	BEFREE	28952142, 29469192, 30848476		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of pancreas	Pancreatic adenocarcinoma	BEFREE	30867652		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma, Endometrioid	Endometrial Cancer	BEFREE	19843521		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	LHGDN	12355088, 17049664		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	23485860, 25195525, 25569436, 26274031, 26676820, 27015136, 30121369		★☆☆☆☆ Found in Text Mining only
Adenomatous Polyposis Coli	Multiple polyposis syndrome	BEFREE	11389074, 12086873, 14660579, 15574752, 16885356, 17952864, 18774639, 23129580, 30110600		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	26515592	Associate	★☆☆☆☆ Found in Text Mining only
Adult Acute Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20930648		★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	BEFREE	27245055, 30046000		★☆☆☆☆ Found in Text Mining only
Adult Fanconi syndrome	Fanconi syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anaplasia	Anaplasia	BEFREE	16891307, 23175466, 28465351, 29940068		★☆☆☆☆ Found in Text Mining only
Anodontia	Anodontia	Pubtator	27197745	Associate	★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	27520560, 29101303, 30867652, 31103629, 31191661		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	26498477	Associate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm, Abdominal	Aortic Aneurysm	BEFREE	26498477		★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	18162503, 19280766, 26100857		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	24000795		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	24000795	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Arthritis Juvenile	Juvenile arthritis	Pubtator	24000795	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	29848990	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Gouty	Gouty arthritis	GWASDB_DG	23263486		★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	18335111		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	30468298		★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	33783914	Associate	★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	LHGDN	12788852		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	18162503, 19280766, 26100857		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	18703780	Associate	★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	31461081		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	12073419, 17440016, 18221440, 23352578, 23548576, 30837262, 31216480, 31365591		★☆☆☆☆ Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome	Autoimmune Lymphoproliferative Disorder	BEFREE	28349581		★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	29344114, 31237058		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	19468668, 22016432		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	19468668, 22016432, 24713057, 37690144	Associate	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	30962179	Stimulate	★☆☆☆☆ Found in Text Mining only
Bartter Syndrome Type 3 with Hypocalciuria	Bartter syndrome	Pubtator	19389850	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	15326484, 25260568		★☆☆☆☆ Found in Text Mining only
beta Thalassemia	Beta thalassemia	Pubtator	19228875	Associate	★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	25043045		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	36463340	Associate	★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	29541223		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	20031592, 36814838, 9294105	Associate	★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	8324220		★☆☆☆☆ Found in Text Mining only
Bone neoplasms	Bone neoplasms	BEFREE	31595984		★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain neoplasms	Pubtator	23707370, 37423059	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	16465433, 18056193, 19576865, 22045851, 22954590, 28583188, 30650643, 31541685		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Breast Neoplasms	Breast neoplasm	Pubtator	16003740, 28583188	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	32928877	Stimulate	★☆☆☆☆ Found in Text Mining only
Brittle diabetes	Brittle diabetes mellitus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Cachexia	Cachexia	Pubtator	20407445	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	12378619, 17149756, 18703780, 21247902, 22778133, 24000294, 25793983, 26997447, 29234104, 29551770, 30191603, 30792270, 35655171, 37974020, 38062804	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33300557, 34037532	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoid Tumor	Carcinoid tumor	Pubtator	39581377	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16400631, 17187432, 18570977, 23307400, 30121369, 31685031, 8118822		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	10606640, 12133007, 12799639, 1331985, 16891307, 16980607, 17275129, 19941970, 20976847, 21256126, 21975049, 23391410, 23707370, 24059685, 25516669, 25526364, 26205181, 26624507, 26848864, 26997447, 27469031, 28726775, 29256857, 29566023, 30121369, 30155490, 30191603, 30249878, 30602592, 31173963, 31322246, 31462277, 31570105, 31761783, 31915469, 33371430, 34583732, 35327967, 35655171, 36572455, 39273406, 9668124	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	25422324, 32210451, 35006629	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma of ampulla of Vater	Ampullary Carcinoma	BEFREE	21494118		★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	29541223		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	28592245		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	27520560, 35121522, 36825600, 40149962	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	33214606	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	22140441, 23572277, 23591200, 25209865, 25961905, 32093682, 36510186, 36947439, 8945471	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	26287733, 31322246	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	40275187	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	32402285	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10739697		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	24763700, 24848804, 26479152		★☆☆☆☆ Found in Text Mining only
Caudal Regression Syndrome	Caudal regression sequence	BEFREE	30362177		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	27460564, 28035729	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	27460564	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	31810492		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	31810492		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	20930648		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	BEFREE	18636547		★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	35550144	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	16506961, 30325047		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	16506961, 30325047, 30504769		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholelithiasis	Cholecystolithiasis	Pubtator	40428345	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholestasis	Cholestasis	BEFREE	19239393		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholelithiasis	Pubtator	25798860	Associate	★☆☆☆☆ Found in Text Mining only
Cholesterol gallstones	Cholesterol gallstones	BEFREE	22290433		★☆☆☆☆ Found in Text Mining only
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	ORPHANET_DG	15649945, 8620471		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Chromophobe renal cell carcinoma	Chromophobe Carcinoma	Orphanet			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CTD_human_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Chromophobe Renal Cell Carcinoma	Chromophobe Carcinoma	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Chronic kidney disease stage 5	Kidney Disease	BEFREE	15793260		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	21380624, 29330688		★☆☆☆☆ Found in Text Mining only
Chronic Lymphocytic Leukemia	Lymphocytic Leukemia	BEFREE	20595513, 29785028		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	24584572		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	12829997, 30121369		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clear cell papillary renal cell carcinoma	Papillary Renal Carcinoma	ORPHANET_DG	15649945, 8620471		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell papillary renal cell carcinoma	Papillary Renal Carcinoma	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear-cell metastatic renal cell carcinoma	Renal Carcinoma	BEFREE	26287733		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	18338782, 24980432		★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	Pubtator	33300557	Associate	★☆☆☆☆ Found in Text Mining only
Colitis Ulcerative	Ulcerative colitis	Pubtator	19915572, 22914433, 28885228	Associate	★☆☆☆☆ Found in Text Mining only
Collecting Duct Carcinoma of the Kidney	Renal Carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Coloboma	Coloboma	Pubtator	33251707	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	11532957, 15782138, 17726380, 19749792, 21284881, 22308320, 23307400, 23449499, 25808746, 26240283, 28039460, 30191603, 30996256, 31253868, 31435165		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	11572874, 15492751, 19237607, 19784072, 21829439, 24704829	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17638895		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	27433921		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	38062804	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	12408868, 12408869, 15716380, 16400631, 16705313, 17300672, 18281465, 18621708, 19639167, 21123622, 21851818, 22080605, 22851508, 25915847, 25961950, 26178483, 27333864, 28450117, 29551399, 30121667, 31060309, 31497251, 31811277, 9259402		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	10514393, 12387883, 12408868, 12460462, 12799639, 14566053, 15188006, 15331612, 16705313, 17291450, 17360646, 18621708, 20096102, 20348951, 21247902, 21764279, 21829439, 22072622, 22308320, 22860045, 24619225, 25483087, 25683913, 26222778, 26947016, 29551770, 30191603, 30546056, 31253868, 32503434, 33300557, 33824271, 33930428, 34719306, 34954189, 35184384, 36230970, 36423688, 36609428, 36833408, 38062804	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	15326484		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	28708826		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34719039	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Congenital abnormalities	Pubtator	34035238	Associate	★☆☆☆☆ Found in Text Mining only
Congenital absence of kidney	Renal agenesis	BEFREE	21380624		★☆☆☆☆ Found in Text Mining only
Congenital absence of kidneys syndrome	Renal agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of vas deferens	Absent vas deferens	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital disorder of glycosylation type 1A	Congenital disorder of glycosylation	Pubtator	36773065	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	BEFREE	17923767, 18268044, 20164212, 20931292, 21186003, 21252247, 21353246, 21648289, 21823540, 22028181, 22802087, 23345197, 23348805, 23796040, 24285859, 25008049, 25819479, 26316429, 26431509, 27552834, 28242437, 30730840		★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Congenital hyperinsulinism	Pubtator	20164212, 22802087, 23345197, 23869231, 24285859, 25008049, 28693455, 29739729, 38433330	Associate	★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital Hyperinsulinism	Hyperinsulinemic hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of pancreas	Pancreatic hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10470156, 16007190, 18163890, 23591200, 25961905, 31322246, 31432508, 8118822		★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	19280766, 20031592, 21062467, 28035729, 9562352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	BEFREE	19198612, 19280766, 20031592, 21062467, 25057215, 26209006, 28035729, 9562352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	19198612, 20031592, 25057215, 26209006, 28035729, 33004870, 35866398, 40485517	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	26209006	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	28714974, 28714975, 29212778, 30104761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Disease	Coronary artery disease	Pubtator	20031592, 21203500, 22152955	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	BEFREE	11286643, 19280766, 20031592, 21062467, 22152955, 28035729, 9562352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASCAT_DG	19198612		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	19198612, 21347282		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	CTD_human_DG	28869590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Crigler Najjar syndrome type 2	Crigler-najjar syndrome	Pubtator	31142299	Associate	★☆☆☆☆ Found in Text Mining only
Crigler Najjar syndrome, type 1	Crigler-Najjar syndrome	BEFREE	31142299		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	BEFREE	18338782, 21831733, 22914433, 24415854, 24994854, 28885228		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	22914433, 32915959	Associate	★☆☆☆☆ Found in Text Mining only
Cystic kidney	Cystic Kidney Disease	BEFREE	31825128		★☆☆☆☆ Found in Text Mining only
Cystic Kidney Diseases	Cystic Kidney Disease	BEFREE	19844256		★☆☆☆☆ Found in Text Mining only
Cystinuria	Cystinuria	BEFREE	30450686		★☆☆☆☆ Found in Text Mining only
De Toni-Debre-Fanconi Syndrome	Fanconi Syndrome	BEFREE	24285859, 25819479, 27245055		★☆☆☆☆ Found in Text Mining only
Degenerative polyarthritis	Arthritis	BEFREE	23603903		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	BEFREE	28105082		★☆☆☆☆ Found in Text Mining only
Desmoid disease hereditary	Desmoid tumor	Pubtator	15054469	Associate	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	22523087	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	10333942, 10447526, 10588527, 10609119, 10672453, 10690959, 10768098, 10807546, 10840995, 10843190, 10868949, 10990086, 11029602, 11043867, 11286643, 11554773, 11772903, 11904371, 12110948, 12207813, 12242469, 12378390, 12453976, 12488962, 12529398, 12547858, 12574234, 15001650, 15047632, 15047633, 15111509, 15615695, 15660195, 15735892, 15793260, 15842505, 15928245, 16046299, 16186411, 16415484, 16602010, 16731855, 16731861, 16760222, 16834925, 17033837, 17259399, 17407387, 17440689, 17488343, 17563455, 17620318, 17878605, 17894829, 17923767, 18003757, 18184923, 18221440, 18297260, 18356407, 18513302, 18586913, 18593771, 18829458, 18838325, 19179483, 19239393, 19388975, 19417042, 19490620, 19794065, 19844256, 20069546, 20099993, 20126273, 20164212, 20172480, 20210571, 20543213, 20546258, 20546279, 20581827, 20705777, 20716378, 20724646, 20878384, 21062274, 21105491, 21169132, 21170474, 21208426, 21323639, 21463240, 21518407, 21633728, 21648289, 21683639, 21700917, 21708156, 21814873, 21823540, 21989597, 22432108, 22432796, 22486180, 22787179, 22802087, 22820548, 22849862, 22859960, 22952853, 23106207, 23157689, 23224494, 23274891, 23551881, 23607861, 23616187, 23761103, 23771925, 23979397, 24001579, 24069322, 24285859, 24323243, 24677712, 24848070, 25041077, 25048417, 25344793, 25441779, 25483937, 25494859, 25554066, 25588466, 25646437, 25837654, 25987348, 26240958, 26347889, 26479152, 26670163, 26792861, 26806650, 26853433, 26981542, 26997508, 27087001, 27321323, 27323672, 27398945, 27432078, 27486234, 27552834, 27899486, 27913849, 28012402, 28052112, 28095440, 28132100, 28438156, 28453780, 28664602, 28934671, 29093331, 29207974, 29355436, 29450745, 29510678, 29525113, 29666556, 29739729, 29758564, 29895593, 30143652, 30155490, 30181854, 30229274, 30287671, 30325586, 30403316, 30507613, 30648609, 30665703, 30963309, 31098941, 31109344, 31137773, 31214998, 31215021, 31362984, 31374199, 31483937, 31754975, 31844173, 7951673, 7958545, 8632993, 8712800, 8782826, 8866553, 8875082, 9075802, 9097962, 9105779, 9294105, 9313763, 9449683, 9472859, 9562352, 9839108		★☆☆☆☆ Found in Text Mining only
Diabetes Complications	Diabetes complications	Pubtator	12413008	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	29947923, 30239167, 31825269	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	10333942, 10447526, 10588527, 10601964, 10609119, 10672453, 10690959, 10768098, 10807546, 10840995, 10843190, 10868949, 10990086, 11029602, 11043867, 11286643, 11463573, 11554773, 11668618, 11772903, 11904371, 12110948, 12207813, 12242469, 12378390, 12453976, 12488962, 12529398, 12547858, 12574234, 12627330, 15001650, 15047632, 15047633, 15111509, 15615695, 15660195, 15715885, 15735892, 15793260, 15842505, 15928245, 16046299, 16186411, 16415484, 16602010, 16731855, 16731861, 16760222, 16834925, 17033837, 17259399, 17407387, 17440689, 17488343, 17563455, 17620318, 17878605, 17894829, 17923767, 18003757, 18184923, 18221440, 18297260, 18356407, 18382660, 18513302, 18586913, 18593771, 18829458, 18838325, 19179483, 19239393, 19252740, 19388975, 19417042, 19490620, 19794065, 19844256, 20069546, 20099993, 20126273, 20164212, 20172480, 20210571, 20543213, 20546258, 20546279, 20581827, 20705777, 20716378, 20724646, 20878384, 21062274, 21105491, 21169132, 21170474, 21208426, 21323639, 21463240, 21518407, 21540130, 21633728, 21648289, 21683639, 21700917, 21708156, 21814873, 21823540, 21989597, 22432108, 22432796, 22486180, 22787179, 22802087, 22820548, 22849862, 22859960, 22952853, 23009393, 23106207, 23157689, 23224494, 23274891, 23551881, 23607861, 23616187, 23761103, 23771925, 23979397, 24001579, 24069322, 24285859, 24299156, 24323243, 24677712, 24848070, 25041077, 25048417, 25344793, 25441779, 25483937, 25494859, 25554066, 25588466, 25646437, 25809823, 25837654, 25987348, 26240958, 26347889, 26479152, 26670163, 26792861, 26806650, 26853433, 26981542, 26997508, 27062931, 27083284, 27087001, 27321323, 27323672, 27398945, 27432078, 27486234, 27552834, 27899486, 27913849, 28012402, 28052112, 28095440, 28132100, 28438156, 28453780, 28663157, 28664602, 28934671, 29093331, 29207974, 29355436, 29450745, 29510678, 29525113, 29666556, 29739729, 29758564, 29895593, 30143652, 30155490, 30181854, 30229274, 30287671, 30325586, 30362177, 30403316, 30507613, 30648609, 30665703, 30963309, 31098941, 31109344, 31137773, 31214998, 31215021, 31362984, 31374199, 31483937, 31754975, 31844173, 7951673, 7958545, 8632993, 8712800, 8782826, 8866553, 8875082, 9075802, 9097962, 9105779, 9294105, 9313763, 9449683, 9472859, 9562352, 9839108		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus	Diabetes mellitus	Pubtator	11904371, 12413008, 12453420, 15233628, 18297260, 18356407, 18391435, 18586913, 18829458, 19490620, 19933992, 20003313, 20126273, 20581827, 20705777, 20716378, 20878384, 21135126, 22140441, 22413961, 22665711, 22798294, 22802087, 22840769, 22859960, 23274891, 23551881, 23607861, 24069322, 24285859, 24299156, 24549415, 25082184, 25266181, 25646437, 26670163, 26855178, 26981542, 27271189, 27486234, 27899486, 28938416, 29072691, 29099273, 29107594, 29207974, 29493090, 29666556, 29739729, 29758564, 29990710, 30155490, 30325586, 30507613, 30665703, 30778899, 31109344, 31291970, 31362984, 31374199, 31483937, 31576961, 31844173, 32001615, 32162750, 32518064, 32533152, 33472798, 34732801, 34746319, 34939081, 34951657, 35043148, 35122907, 35257744, 35551682, 35592779, 35763601, 36068963, 36104811, 36257325, 36360783, 36418577, 37033247, 37396188, 37669939, 37798422, 38632103, 40225161, 8632993, 9045858, 9294105	Associate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus	Diabetes Mellitus	LHGDN	16562587		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus	Diabetes mellitus	Pubtator	32238361, 34250910	Stimulate	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes Mellitus	Diabetes Mellitus	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Diabetes mellitus autosomal dominant type II (disorder)	Diabetes Mellitus	BEFREE	18382660, 18399931, 20337973, 23295287, 24677712, 31092478		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 1	Diabetes mellitus, type 1	Pubtator	18593771, 19228875, 21700917, 25082184, 28938416, 29597128, 30507613, 31365591, 36418577, 40004501	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	10585442, 10606640, 10696112, 11296231, 11904371, 12413008, 14551916, 14988562, 15139733, 15233628, 15687377, 16186411, 16223942, 16936201, 16946562, 18297260, 18356407, 18391435, 18439548, 18492944, 18498634, 18586913, 18593771, 18602983, 18654034, 18728231, 18829458, 19119252, 19309449, 19490620, 19672314, 19794065, 20003313, 20164212, 20361036, 20558840, 20705777, 20716378, 20878384, 21208426, 21236713, 21498636, 21677039, 21700917, 21874001, 22140441, 22216000, 22432108, 22665711, 22787179, 23029454, 23247789, 23251491, 23274891, 23306198, 23760703, 23771925, 24026547, 24062323, 24069322, 24299156, 24549415, 24915262, 25057215, 25266181, 25569436, 25671620, 25987348, 26252223, 26287533, 26395551, 26413797, 26670163, 26981542, 27142837, 27486234, 27807544, 27899486, 28095440, 28438156, 29175806, 29185012, 29439679, 29666556, 29990710, 30155490, 30259503, 30764545, 31109344, 31309534, 31374199, 31483937, 31558549, 31576961, 31638168, 31844173, 32001615, 32162750, 32741144, 32747424, 32910913, 33046911, 33114319, 33251707, 33371430, 33852230, 34135026, 34373539, 34462253, 34746319, 34805411, 34939081, 34951657, 35029855, 35043148, 35108381, 35235779, 35551682, 35592779, 35918471, 36208030, 36216889, 36257325, 36637968, 36723869, 37396173, 37396188, 37711893, 37798422, 38096208, 38353623, 38433330, 39191897, 39511990, 40303944, 40485517, 8632993, 8945471	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	32238361	Stimulate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37669939	Inhibit	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	BEFREE	10609119, 10634407, 11668618, 12488961, 12547858, 12574234, 15660729, 16562587, 18221440, 18251672, 18593771, 19933992, 21270186, 21395678, 21463240, 21521320, 21700917, 21708156, 22350134, 23157689, 23274891, 23548576, 24549415, 24906951, 24918535, 25082184, 25987348, 26347889, 26479152, 27913849, 28052112, 28438156, 28938416, 30155490, 30259606, 30481753, 30507613, 30535056, 30778899, 31092478, 31214998, 9562352		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)	Diabetes Mellitus	UNIPROT_DG	10333057, 9313763, 9867222		★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)	Diabetes Mellitus	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)	Diabetes Mellitus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
DIABETES MELLITUS, INSULIN-DEPENDENT, 20 (disorder)	Diabetes Mellitus	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Ketosis-Prone	Diabetes Mellitus	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	10230653, 10331424, 10333942, 10581189, 10588527, 10609119, 10634821, 10649494, 10690901, 10690959, 10694920, 10768098, 10807546, 10843190, 10868855, 10872540, 10983627, 11029602, 11058894, 11151756, 11174836, 11270685, 11440371, 11668623, 11692182, 11904371, 12083813, 12242469, 12529398, 1397713, 1397724, 14988275, 14988562, 15047632, 15047633, 15111509, 15277395, 15504983, 15561969, 15728204, 15734869, 15735891, 15735892, 15793260, 15794920, 15842505, 15983230, 16096055, 16186411, 16241915, 16276364, 1628771, 16644680, 16731855, 16731861, 16804065, 16838170, 16917892, 16936201, 17033837, 17259399, 17327436, 17425917, 17426099, 17440016, 17466274, 17563455, 17805472, 17827402, 17894829, 17937063, 17991132, 18162503, 18251672, 18271687, 18436708, 18498634, 18586913, 18672310, 18728231, 18777455, 18811724, 19119252, 19150152, 19353766, 19406499, 19490620, 19558691, 19672314, 19748811, 19754856, 19794065, 19843526, 19933992, 20079163, 20172480, 20361036, 20499044, 20558840, 20621032, 20716378, 20724646, 20739883, 20878384, 21062274, 21168233, 21208426, 21224407, 21270186, 21442235, 21521318, 21633728, 21683639, 21700917, 21814221, 21814873, 21874001, 21983932, 22015693, 22158537, 22216000, 22350134, 22515931, 22529894, 22665711, 22787179, 22859960, 22952853, 22996131, 23029454, 23139355, 23157689, 23224494, 23251491, 23274891, 23448427, 23463236, 23548576, 23761103, 24062323, 24069322, 24145053, 24442509, 24648162, 24915262, 24933231, 25048417, 25057215, 25174781, 25361053, 25400315, 25498973, 25501962, 25588466, 25599387, 25671620, 25733449, 25896041, 25987348, 26106223, 26176428, 26240958, 26252223, 26315042, 26347889, 26446475, 26479152, 26642437, 26670163, 26781905, 26802434, 26981542, 27142837, 27445006, 27552834, 27752141, 27807544, 27862917, 27899486, 28170077, 28190082, 28324025, 28438156, 28493909, 28593615, 28688048, 28934671, 29207974, 29758564, 29767246, 29895593, 30020828, 30155490, 30181854, 30377089, 30455330, 30535056, 30778899, 30860284, 30862908, 30873661, 30963309, 31483937, 31524257, 31682881, 7556965, 7589847, 7958545, 8782826, 8875082, 8945470, 9032114, 9075802, 9097962, 9112026, 9133558, 9133559, 9162575, 9166684, 9243109, 9285775, 9287053, 9313763, 9439666, 9449683, 9539292, 9562352, 9621514, 9626139, 9715376, 9792550, 9839108, 9840451		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	12050210, 12107757, 12442280, 15522234, 15928245, 16186275, 16838170, 17327436, 17573900, 18672310		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CTD_human_DG	17317762, 21874001, 22158537, 28869590		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	21874001, 22885922, 24509480, 28869590, 29632382, 30054458, 30595370, 30718926, 31118516		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	21874001, 22325160, 22885922, 23300278, 24509480		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GENOMICS_ENGLAND_DG	28242437		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	UNIPROT_DG	9449683		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, PERMANENT NEONATAL	Diabetes Mellitus	BEFREE	16602010, 17488343, 26315042		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Sudden-Onset	Diabetes Mellitus	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	BEFREE	20724646, 25809823		★☆☆☆☆ Found in Text Mining only
Diabetes, Autoimmune	Autoimmune Diabetes	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Diabetes-deafness syndrome maternally transmitted (disorder)	Diabetes and Hearing Loss	BEFREE	10793405		★☆☆☆☆ Found in Text Mining only
Diabetic Cardiomyopathies	Diabetic cardiomyopathy	BEFREE	26956801		★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic Ketoacidosis	BEFREE	10609119, 25837654		★☆☆☆☆ Found in Text Mining only
Diabetic Ketoacidosis	Diabetic ketoacidosis	Pubtator	23610083, 25837654	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	25786776	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	15114102, 18184923, 22849862, 24804978, 9133559		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	LHGDN	18184923		★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Diabetic Neuropathies	Diabetic neuropathy	Pubtator	23551881, 35122907	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic retinopathy	Pubtator	12413008	Associate	★☆☆☆☆ Found in Text Mining only
Diabetic Retinopathy	Diabetic Retinopathy	BEFREE	26240958, 27445006		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	28590426	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	12529398		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	12529398, 24069322, 25057215, 29852391, 30709899		★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	Pubtator	25057215, 30709899, 35957821	Associate	★☆☆☆☆ Found in Text Mining only
Dysmorphic features	Dysmorphic Features	CLINVAR_DG	11575290, 17407387, 22654519, 22802087, 24285859, 8945471, 9371825		★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	18271687		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	22555103, 23295859, 28356952, 30206735		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	29357938		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	29357938	Associate	★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	24384557		★☆☆☆☆ Found in Text Mining only
Episodic Kinesigenic Dyskinesia 1	Episodic Kinesigenic Dyskinesia	BEFREE	24584572		★☆☆☆☆ Found in Text Mining only
Epithelioma	Epithelioma	BEFREE	16741972		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	17037983	Associate	★☆☆☆☆ Found in Text Mining only
Exocrine pancreatic insufficiency	Exocrine pancreatic insufficiency	HPO_DG			★☆☆☆☆ Found in Text Mining only
Factor VII Deficiency	Factor VII Deficiency	BEFREE	11110717, 21760481, 22628013		★☆☆☆☆ Found in Text Mining only
Factor VII Deficiency	Factor vii deficiency	Pubtator	11110717, 36123027, 8978290	Associate	★☆☆☆☆ Found in Text Mining only
Factor XII Deficiency	Factor xii deficiency	Pubtator	19786295	Associate	★☆☆☆☆ Found in Text Mining only
Familial cylindromatosis	Familial cylindromatosis	Pubtator	24000294	Associate	★☆☆☆☆ Found in Text Mining only
Familial generalized lipodystrophy	Lipodystrophy	BEFREE	11029602		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	30962179		★☆☆☆☆ Found in Text Mining only
Familial partial lipodystrophy	Partial Lipodystrophy	BEFREE	23771172		★☆☆☆☆ Found in Text Mining only
Familial Partial Lipodystrophy, Type 2	Partial Lipodystrophy	BEFREE	11029602		★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	24285859, 25819479, 27245055		★☆☆☆☆ Found in Text Mining only
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG	Fanconi Renotubular Syndrome With Maturity-Onset Diabetes Of The Young	CLINVAR_DG	20164212, 24285859, 25819479, 27245055, 28458902, 28693455		★☆☆☆☆ Found in Text Mining only
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG	Fanconi Renotubular Syndrome With Maturity-Onset Diabetes Of The Young	GENOMICS_ENGLAND_DG	22802087, 25819479, 28242437, 31875549		★☆☆☆☆ Found in Text Mining only
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG	Fanconi Renotubular Syndrome With Maturity-Onset Diabetes Of The Young	UNIPROT_DG	22802087, 24285859		★☆☆☆☆ Found in Text Mining only
FANCONI RENOTUBULAR SYNDROME 4 WITH MATURITY-ONSET DIABETES OF THE YOUNG	Fanconi Renotubular Syndrome With Maturity-Onset Diabetes Of The Young	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi syndrome	Pubtator	22802087, 24285859, 33251707, 33430795, 38433330, 39527373	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Syndrome	Fanconi Syndrome	BEFREE	24285859, 25819479, 27245055		★☆☆☆☆ Found in Text Mining only
Fanconi-Bickel Syndrome	Fanconi-Bickel Syndrome	BEFREE	31137773		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty liver	Pubtator	16496320, 17379603, 21135126, 21975049	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	26100857, 26806650, 27661118, 28981086, 29150932, 30121369, 30455723, 30484681, 31637472		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Fatty Liver Alcoholic	Fatty liver, alcoholic	Pubtator	29216278	Associate	★☆☆☆☆ Found in Text Mining only
Fatty Liver Disease	Fatty Liver	BEFREE	26806650, 29216278		★☆☆☆☆ Found in Text Mining only
Fibrolamellar Hepatocellular Carcinoma	Hepatocellular Carcinoma	BEFREE	27015136		★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	21725089, 28547778, 30317608, 31547152		★☆☆☆☆ Found in Text Mining only
Gastritis	Gastritis	BEFREE	26870992		★☆☆☆☆ Found in Text Mining only
Gastroesophageal Reflux	Gastroesophageal reflux disease	Pubtator	14970870	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Diseases	Gastrointestinal Diseases	BEFREE	31435165		★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	21447180, 31695151, 33114319	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	BEFREE	31045869		★☆☆☆☆ Found in Text Mining only
Germ cell tumor	Tumor	BEFREE	11408932		★☆☆☆☆ Found in Text Mining only
Gerstmann-Straussler-Scheinker Disease	Gerstmann-Straussler-Scheinker syndrome	BEFREE	23046672		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	Pubtator	26135629	Associate	★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	28990066		★☆☆☆☆ Found in Text Mining only
Glaucoma Open Angle	Open angle glaucoma	Pubtator	36727359	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	18242184, 25050814, 26817999, 31410187	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	22085529, 29313411, 31410187		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	22085529, 29313411, 31410187		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	25301232		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	37851364	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glucose Metabolism Disorders	Glucose Metabolism Disorders	BEFREE	22993150		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen storage disease	Pubtator	22802087	Associate	★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease	Glycogen Storage Disease	BEFREE	28242437		★☆☆☆☆ Found in Text Mining only
Glycogen Storage Disease Type I	Glycogen Storage Disease	BEFREE	23046672		★☆☆☆☆ Found in Text Mining only
Glycosuria, Renal	Glycosuria, Renal	BEFREE	28324025		★☆☆☆☆ Found in Text Mining only
Gout	Gout	GWASDB_DG	23263486		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gout	Gout	Pubtator	35524416	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hamman-Rich syndrome	Hamman-Rich syndrome	BEFREE	30848476		★☆☆☆☆ Found in Text Mining only
Heart Diseases	Heart Diseases	BEFREE	7559437		★☆☆☆☆ Found in Text Mining only
Hematopoietic Neoplasms	Hematopoietic Neoplasms	BEFREE	20028861, 23966864		★☆☆☆☆ Found in Text Mining only
Hemolytic Uremic Syndrome	Hemolytic uremic syndrome	Pubtator	23809614	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia a	Pubtator	1631121	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia A	Hemophilia	BEFREE	8324220		★☆☆☆☆ Found in Text Mining only
Hemophilia B	Hemophilia b	Pubtator	1631121, 8324220, 9233568	Associate	★☆☆☆☆ Found in Text Mining only
Hemophilia, NOS	Hemophilia	BEFREE	8324220		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	31483937, 8324220	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Adenomas Familial	Hepatic adenoma	Pubtator	25569436, 27015136, 34232602	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Adenomas, Familial	Hepatic Adenomas	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatic Adenomas, Familial	Hepatic Adenomas	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatic Adenomas, Familial	Hepatic Adenomas	CTD_human_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatitis Alcoholic	Alcoholic hepatitis	Pubtator	36243044	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	22257755	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	16254374	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	22993150	Inhibit	★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	24173221	Associate	★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	BEFREE	12220531, 8912143		★☆☆☆☆ Found in Text Mining only
Hepatoblastoma	Hepatoblastoma	Pubtator	33368532	Associate	★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	BEFREE	14598263, 15001650, 15326484, 17187432, 17363580, 17379603, 17663417, 20357450, 20393147, 21566527, 21975049, 21997980, 23046672, 23485860, 23707370, 23865574, 24509184, 24642958, 24746201, 25195525, 25260568, 26274031, 26776850, 26961851, 28280721, 28733222, 29101032, 29256857, 29687774, 30121369, 30920416, 31171888, 31419515, 31483937, 31570768, 31685031, 31754975		★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	LHGDN	15326484, 17569132		★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hepatocellular Adenoma	Hepatocellular adenoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular Degeneration	BEFREE	30709419		★☆☆☆☆ Found in Text Mining only
Hepatolenticular Degeneration	Hepatolenticular degeneration	Pubtator	30709419	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Breast and Ovarian Cancer Syndrome	Hereditary breast and ovarian cancer syndrome	Pubtator	28583188	Associate	★☆☆☆☆ Found in Text Mining only
HNF1B-related autosomal dominant tubulointerstitial kidney disease	Tubulointerstitial Kidney Disease	Orphanet			★☆☆☆☆ Found in Text Mining only
Horseshoe Kidney	Horseshoe Kidney	HPO_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	22531500		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	21871126		★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	Pubtator	30709899	Associate	★☆☆☆☆ Found in Text Mining only
Hyperemia	Hyperemia	BEFREE	10510948		★☆☆☆☆ Found in Text Mining only
Hyperglycemia	Hyperglycemia	CLINVAR_DG	10585442, 10592235, 10768098, 11058894, 11272211, 11463573, 12453976, 15726414, 15830177, 16917892, 17407387, 18003757, 19150152, 193395, 19339519, 23348805, 23485969, 24947580, 25414397, 26059258, 9032114, 9075818, 9313763, 9439666		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	BEFREE	10609119, 12547858, 14633861, 16241915, 16444761, 19794065, 20543213, 20705777, 23352578, 23878349, 24804978, 25372588, 25581748, 25935773, 26106223, 26997508, 27106716, 28663157, 29510678, 30362177, 30535721, 30734462, 31092478, 31571622, 31704690, 8875082, 9162575, 9713013		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	Pubtator	20705777, 31576961, 36178555	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	CTD_human_DG	29753610		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperglycemia	Hyperglycemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	BEFREE	17407387, 18268044, 19254908, 19566570, 20164212, 21252247, 21648289, 21823540, 23348805, 23485969, 23796040, 24299156, 25733449, 27245055, 27552834, 29280746, 29739729		★☆☆☆☆ Found in Text Mining only
Hyperinsulinemic hypoglycemia	Hyperinsulinemic hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	17407387, 19179483, 20164212, 20621032, 20675304, 22802087, 24905847, 28556992, 29493090, 30950200, 31092478		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	Pubtator	22802087, 25555642, 29493090, 33251707	Associate	★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism due to HNF1A deficiency	Hyperinsulinism	ORPHANET_DG	22802087, 25733449		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperinsulinism due to HNF1A deficiency	Hyperinsulinism	Orphanet			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hyperinsulinism due to HNF4A deficiency	Hyperinsulinism	ORPHANET_DG	20931292, 25733449		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism due to HNF4A deficiency	Hyperinsulinism	Orphanet			★☆☆☆☆ Found in Text Mining only
Hyperinsulinism due to HNF4A deficiency	Hyperinsulinism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperlipidemia	Hyperlipidemia	BEFREE	28475422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperlipidemia Familial Combined	Hyperlipidemia	Pubtator	18340007	Associate	★☆☆☆☆ Found in Text Mining only
Hyperlipidemia, Familial Combined	Hyperlipidemia	BEFREE	16804065, 18340007, 20739883		★☆☆☆☆ Found in Text Mining only
Hyperlipidemias	Hyperlipidemia	Pubtator	35866398	Associate	★☆☆☆☆ Found in Text Mining only
Hyperphenylalaninaemia	Hyperphenylalaninemia	BEFREE	11065346		★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	21298017, 25057215	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	21208426, 21298017, 9562352		★☆☆☆☆ Found in Text Mining only
Hypertriglyceridemia	Hypertriglyceridemia	Pubtator	19490620, 25057215	Associate	★☆☆☆☆ Found in Text Mining only
Hyperuricemia	Hyperuricemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	BEFREE	10866048, 11174836, 15787664, 17407387, 21648289, 21823540, 25483937, 26997508, 27552834, 31682881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	CTD_human_DG	15787664		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	LHGDN	18268044		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	Pubtator	20164212, 22341299, 27486234, 28693455	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoglycemia	Hypoglycemia	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoinsulinaemia (disorder)	Hypoinsulinemia	BEFREE	20621032		★☆☆☆☆ Found in Text Mining only
Hypoinsulinaemia (disorder)	Hypoinsulinemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypophosphatemic Rickets	Hypophosphatemic Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypothyroidism	Hypothyroidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	11553861	Inhibit	★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	12239177, 17372675	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31391533		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory Bowel Disease	BEFREE	18338782, 24415854, 24980432, 28385711, 29980668		★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	23675775, 27903283, 28882825, 32915959, 33300557, 36773065	Associate	★☆☆☆☆ Found in Text Mining only
Inflammatory Bowel Diseases	Inflammatory bowel disease	Pubtator	35653895	Inhibit	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	11904371, 32375679, 34951657	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	24142110	Inhibit	★☆☆☆☆ Found in Text Mining only
insulinoma	Insulinoma	BEFREE	10944108, 19252740		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intestinal Neoplasms	Intestinal neoplasm	Pubtator	18455124	Associate	★☆☆☆☆ Found in Text Mining only
Intracranial Aneurysm	Intracranial aneurysm	Pubtator	29328431	Associate	★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	27460564, 28035729		★☆☆☆☆ Found in Text Mining only
Juvenile arthritis	Arthritis	BEFREE	24000795		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	BEFREE	31179571		★☆☆☆☆ Found in Text Mining only
Ketosis	Ketosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	BEFREE	11668623, 21540130, 9839108		★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	33251707, 9294105	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	39954965	Inhibit	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	18602983	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Failure, Acute	Kidney Failure	BEFREE	28346462		★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	15793260, 29330688		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	33328429	Associate	★☆☆☆☆ Found in Text Mining only
Latent Autoimmune Diabetes in Adults	Autoimmune Diabetes	BEFREE	19933992		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	15369140, 15927679, 27858992		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20797387, 22858986	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	15024077, 27858992, 31325181		★☆☆☆☆ Found in Text Mining only
Leukopenia	Leukopenia	BEFREE	17876342		★☆☆☆☆ Found in Text Mining only
Lipid Metabolism Disorders	Lipid Metabolism Disorders	BEFREE	27592052		★☆☆☆☆ Found in Text Mining only
Lipoatrophic Diabetes Mellitus	Lipoatrophic Diabetes Mellitus	BEFREE	11029602		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11228163, 12355088, 12967472, 1312668, 1331985, 15961790, 16098625, 16891307, 17006670, 17300672, 17881540, 18395097, 18925631, 20041408, 20538055, 2157890, 21735473, 21863061, 21975049, 23485860, 24059685, 24283668, 24716919, 25189544, 25238230, 25242412, 25422324, 25516669, 25652264, 25993042, 26221053, 26848864, 27050273, 27124543, 27194100, 27477312, 28465351, 28488786, 28547778, 28726775, 29051787, 29101032, 29256857, 29263422, 29466992, 29566023, 30015413, 30121369, 30155490, 30220099, 30249878, 30341289, 30361504, 30509085, 30560924, 30721564, 31237058, 31435165, 31462277, 31575546, 31685031, 31761783, 7511984, 7931153, 8912143, 9614379, 9878242		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	12133007, 18561282		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CGI_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	12829997, 30121369, 31133062		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	22257755, 35006629	Associate	★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	32516515, 35006629, 38433330	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	Pubtator	21975049, 27721404, 29067470, 33251707, 33593348, 34949673	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	BEFREE	30520062		★☆☆☆☆ Found in Text Mining only
Liver Failure, Acute	Liver failure	BEFREE	28870599		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	11228163, 11809809, 1312668, 1331985, 16891307, 2157890, 25422324, 26848864, 27124543, 28726775, 29566023, 30155490, 7931153, 9878242		★☆☆☆☆ Found in Text Mining only
Liver Neoplasms	Liver neoplasm	Pubtator	30155490	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung Neoplasms	BEFREE	16400631		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	23761130, 26035432, 28230015, 28592245, 8096192	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Nephritis	Lupus Nephritis	BEFREE	26546590		★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	27981551	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	29762827	Stimulate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28498421		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	16465433, 18056193, 19576865, 22045851, 22954590, 28583188, 30650643, 31541685		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	22555103, 23295859, 28356952, 30206735		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	18163890, 23591200		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	23172628, 23769673, 27462920, 28394260, 29332143, 29899848, 30191603, 31108460, 31322246, 31685031		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	23426183, 25143352, 28592245		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10739697		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	21498636, 23056513, 25233928, 25793983, 26854454, 27520560, 28865121, 29050300, 30074477, 31103629		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16474850, 16741972, 19558691, 24924803, 27922675, 29153843, 30352998, 31794091		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	17300672, 21487519, 21494638, 23714368, 24004449, 25410163, 25965823, 26870992, 29344114, 31068366		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	29541223		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10528152, 10549354, 11326276, 15326484, 18621708, 18925631, 19956716, 20028861, 22421157, 22511755, 23054116, 23103132, 23307400, 24004449, 24610469, 25143352, 25793983, 26240283, 26776850, 28791380, 28866868, 28943452, 29051787, 29344114, 30121369, 31038395, 31685031, 31726709, 7579399		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	31810492		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	11389074, 12730871, 15782138, 17726380, 19749792, 21284881, 22308320, 23449499, 25808746, 26240283, 28039460, 30191603, 30996256, 31253868, 31435165		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	BEFREE	23770712		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	24013721		★☆☆☆☆ Found in Text Mining only
Maturity onset diabetes mellitus in young	Mason type diabetes	BEFREE	10230653, 10331424, 10417964, 10482964, 10491332, 10649494, 10672453, 10694920, 10720084, 10866048, 10868855, 10868948, 10905494, 10944108, 10980542, 10983627, 10993727, 11058894, 11174836, 11463573, 11485019, 11719843, 11904371, 12083813, 12086970, 12110948, 12203996, 12242469, 12378390, 12442280, 12453976, 12530534, 12574234, 12883275, 14580233, 14747304, 15001636, 15001650, 15031772, 15047632, 15111509, 15233628, 15504983, 15657605, 15715885, 15794920, 15841481, 15842505, 15928245, 16026366, 16202877, 16415484, 16632067, 16731855, 16917892, 16936201, 17426099, 17828387, 17923767, 17937063, 18003757, 18221440, 18268044, 18297260, 18331410, 18356407, 18439548, 18513305, 18593771, 18672310, 18829458, 19150152, 19179483, 19336507, 19353766, 19411616, 19646184, 19667185, 19672314, 19754856, 19760265, 19794065, 19844256, 19900242, 19929997, 19933992, 20003313, 20106981, 20164212, 20210571, 20499044, 20682686, 20690076, 20705777, 20724646, 21062274, 21168233, 21176092, 21193557, 21270186, 21323639, 21353246, 21395678, 21521318, 21677039, 21683639, 21700917, 22350134, 22432796, 22787179, 22859960, 22952853, 23009393, 23106207, 23157689, 23274891, 23348805, 23517481, 23539835, 23548576, 23607861, 23616187, 23652628, 23760703, 23771925, 23796040, 23878349, 24069322, 24299156, 24415854, 24567025, 24736738, 25136813, 25174781, 25425063, 25501962, 25569436, 25581748, 25588466, 25837654, 25896041, 25935773, 25987348, 26109503, 26176428, 26240958, 26347889, 26446475, 26479152, 26552609, 26676820, 26853433, 27103109, 27130141, 27142837, 27323672, 27486234, 27552834, 27807544, 28012402, 28170077, 28364040, 28593615, 28766492, 28862987, 29107759, 29109103, 29222740, 29408271, 29439679, 29597128, 29666556, 29867778, 29895593, 29990710, 30086875, 30181854, 30191603, 30191644, 30293189, 30377089, 30421137, 30447144, 30455330, 30656436, 30730840, 30778899, 31098941, 31109344, 31216263, 31435165, 31483937, 31558549, 31604004, 31638168, 31638358, 31682881, 31704690, 31844173, 7589847, 7789637, 8621016, 8866553, 8945471, 9075802, 9097962, 9112026, 9162575, 9166684, 9243109, 9313764, 9439666, 9449683, 9621514, 9626139, 9754819, 9792550, 9839108, 9840451, 9920109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	ORPHANET_DG	21844708, 22498247		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity onset diabetes mellitus in young	Mason type diabetes	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-Onset Diabetes of the Young, Type 1	Mason type diabetes	UNIPROT_DG	10389854, 17407387, 9243109, 9313765		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-Onset Diabetes of the Young, Type 1	Mason type diabetes	CLINVAR_DG	10592235, 10768098, 15830177, 16917892, 17407387, 193395, 20164212, 23348805, 23485969, 24285859, 24947580, 25819479, 26059258, 27245055, 28458902, 28693455		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-Onset Diabetes of the Young, Type 1	Mason type diabetes	BEFREE	11435618, 15793260, 18513302, 19353766, 20003313, 23139355, 23485969, 23652628, 28364040, 30648609, 9313764, 9604881		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-Onset Diabetes of the Young, Type 1	Mason type diabetes	CTD_human_DG	21115832		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Maturity-Onset Diabetes of the Young, Type 1	Mason type diabetes	GENOMICS_ENGLAND_DG	22802087, 24285859, 28242437		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)	Mason type diabetes	UNIPROT_DG	10078571, 10102714, 10482964, 10588527, 10966642, 12453420, 17573900, 8945470, 9032114, 9075818, 9075819, 9097962, 9166684, 9287053, 9392505, 9626139, 9754819		★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)	Mason type diabetes	CLINVAR_DG	10078571, 10754480, 11272211, 12453976, 12488961, 18003757, 19150152, 19339519, 20132997, 23348805, 25414397, 9075818, 9097962, 9439666		★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)	Mason type diabetes	BEFREE	10634407, 10754480, 10944108, 11668618, 12355088, 12529398, 12530534, 14598263, 14633861, 16202877, 17440016, 17989309, 18433912, 18513302, 18593771, 20393147, 21170474, 21224407, 21648289, 21677039, 21823540, 22672869, 23009393, 23139355, 23517481, 23616187, 23707370, 24677712, 24915262, 27142837, 28254450, 28410371, 28934671, 29101032, 29109103, 29222740, 29597128, 31145732, 31754975, 8945470, 9097962, 9840451		★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)	Mason type diabetes	GENOMICS_ENGLAND_DG	22802087		★☆☆☆☆ Found in Text Mining only
MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder)	Mason type diabetes	CTD_human_DG	29753610		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	17373666		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	11594745		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	19216735, 19269971	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	18297260	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	BEFREE	28105082		★☆☆☆☆ Found in Text Mining only
Mental disorders	Mental Disorders	BEFREE	28105082		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	15615695, 18184923, 19239393, 31305461		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	26043170, 29216278, 31305461, 33114319	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	18439548, 25671620, 26174136, 27142837, 29598821, 31305461	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	16241915, 16804065, 21633728, 21983932, 22432108, 25671620, 30415809		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	25935773		★☆☆☆☆ Found in Text Mining only
Mitochondrial Diseases	Mitochondrial disease	Pubtator	39527373	Associate	★☆☆☆☆ Found in Text Mining only
MODY	Mason type diabetes	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic diabetes	Monogenic Diabetes	CLINVAR_DG	10585442, 11058894, 11463573, 15726414, 18003757, 19150152, 23348805, 9032114, 9313763		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monogenic diabetes	Monogenic Diabetes	CLINGEN_DG	11713231, 14988562, 16377800, 16873682, 17407387, 20164212, 22952853, 23796040, 24309898, 8622695, 8945470, 8945471, 9166684, 9204893		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monogenic diabetes	Monogenic Diabetes	BEFREE	16760222, 17488343, 18504548, 19010562, 19388975, 19490620, 19566570, 20546258, 21521320, 22486180, 22782286, 22802087, 23517481, 23624530, 24918535, 25082184, 25896041, 26109503, 26853433, 27106716, 27486234, 27810688, 28436179, 28593615, 28684784, 29666556, 29758564, 30143652, 30146176, 30507613, 30778899, 31063852, 31374199, 31578821		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Monogenic diabetes	Monogenic Diabetes	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Mucositis	Mucositis	Pubtator	29361088	Associate	★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	BEFREE	23725647		★☆☆☆☆ Found in Text Mining only
Multicystic Dysplastic Kidney	Multicystic renal dysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	BEFREE	17452641, 19961481, 22363428, 23344526		★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	LHGDN	18854284		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	37236124	Associate	★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	28844837		★☆☆☆☆ Found in Text Mining only
Myotonic Dystrophy	Myotonic dystrophy	Pubtator	31576961	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	26756620, 30918012		★☆☆☆☆ Found in Text Mining only
Neonatal diabetes mellitus	Diabetes Mellitus	BEFREE	19900242, 23037711, 23771172, 28314945, 28478482, 29486427, 30403316, 31137773		★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	BEFREE	17407387, 20164212, 20546279, 26997508		★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neonatal Hypotonia	Hypotonia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10489374, 10528152, 10739697, 11809809, 12402159, 12461749, 12730871, 12782598, 14633602, 14660579, 14706618, 15623628, 16007190, 16400631, 16523202, 17187432, 17452641, 18163890, 18925631, 19563409, 20041408, 20538055, 21062980, 21566527, 22308320, 23435428, 23737966, 23865574, 24059685, 24573574, 25233928, 25792709, 25793983, 26240283, 26274031, 26535715, 26756620, 27124543, 27194100, 27333864, 27520560, 28346462, 28445515, 28943452, 29101032, 29234104, 29256857, 29279096, 29289833, 29344114, 29899848, 30018042, 30341289, 30414976, 30721564, 31108460, 31322246, 31575546		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	31038395		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	24285859, 30046000		★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	BEFREE	24584572		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12239177, 17724465, 25592038, 31343368		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	31343368, 32216806	Associate	★☆☆☆☆ Found in Text Mining only
Neuropathy	Neuropathy	BEFREE	15615695, 8875082		★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	BEFREE	17876342		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	25993042, 26100857, 26806650, 27660075, 29150932, 29216278, 30455723, 30861601		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	12386812, 26535715, 27981551, 30195659, 30466106		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	BEFREE	29216278		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	11904371, 18036134, 18067551, 20621032, 21195701, 26395551, 26524290, 29424957, 29758564, 31305461		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	18654034, 24062323, 26395551, 29598821, 29752338, 30021629, 30764545, 31305461, 36980809	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	HPO_DG			★☆☆☆☆ Found in Text Mining only
Osteoarthritis	Osteoarthritis	Pubtator	23603903, 33415161	Associate	★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	31835596		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31595984		★☆☆☆☆ Found in Text Mining only
Otosclerosis	Otosclerosis	BEFREE	23770690		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	10739697		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	11943708, 16110260	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	21498636, 23056513, 25233928, 25793983, 26854454, 27520560, 28865121, 29050300, 30074477, 31103629		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic carcinoma	Pancreatic carcinoma	GWASCAT_DG	26098869, 30541042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Ductal Adenocarcinoma	Pancreatic adenocarcinoma	BEFREE	25793983, 26773005, 30074477		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	21498636, 23056513, 25233928, 25793983, 25910082, 26854454, 27520560, 29107594, 32402285, 33371430, 36825600, 40149962	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	28938416, 33214606	Inhibit	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	32072180	Stimulate	★☆☆☆☆ Found in Text Mining only
Pancreatitis	Pancreatitis	Pubtator	35257744	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatitis Chronic	Pancreatitis	Pubtator	28556356, 34828289	Associate	★☆☆☆☆ Found in Text Mining only
Panhypopituitarism	Panhypopituitarism	BEFREE	25962206		★☆☆☆☆ Found in Text Mining only
Papillary cystadenoma of the epididymis	Papillary cystadenoma of the epididymis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Papillary Renal Cell Carcinoma	Papillary Renal Carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Papillary thyroid carcinoma	Papillary thyroid carcinoma	BEFREE	30352403		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	22952715, 25646437, 26516212, 33918274	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	25646437		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	Pubtator	30962179, 35426258	Stimulate	★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	BEFREE	30074477		★☆☆☆☆ Found in Text Mining only
Periodontitis	Periodontitis	Pubtator	34805411	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral T-Cell Lymphoma	T-Cell Lymphoma	LHGDN	12707037		★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	BEFREE	30046000		★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	28299548, 28834135, 29169850, 31525346		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	28299548	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Polycythemia	Polycythemia	Pubtator	26624507	Associate	★☆☆☆☆ Found in Text Mining only
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Lymphoblastic Leukemia	BEFREE	15369140, 23103132		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	BEFREE	17696930, 23354620		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16474850, 16741972, 19558691, 24924803, 27922675, 29153843, 30352998		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	16474850, 24504368, 24924803, 25909225, 32511787	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31695151, 34309216	Inhibit	★☆☆☆☆ Found in Text Mining only
Protein C Deficiency	Protein C Deficiency	BEFREE	10578522, 9553065		★☆☆☆☆ Found in Text Mining only
Proteinuria	Proteinuria	Pubtator	24285859	Associate	★☆☆☆☆ Found in Text Mining only
Psychotic Disorders	Psychosis	BEFREE	28105082		★☆☆☆☆ Found in Text Mining only
Reactive hypoglycemia	Reactive hypoglycemia	CTD_human_DG	15787664		★☆☆☆☆ Found in Text Mining only
RENAL ADYSPLASIA	Renal Aplasia	BEFREE	21380624		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	18163890, 23591200		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	BEFREE	10470156, 16007190, 18163890, 23591200, 31322246, 31432508, 8118822		★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Renal cysts and diabetes syndrome	Renal Cysts And Diabetes Syndrome	BEFREE	17878605, 18593771, 22432796		★☆☆☆☆ Found in Text Mining only
Renal cysts and diabetes syndrome	Renal cysts and diabetes syndrome	Pubtator	22432796	Associate	★☆☆☆☆ Found in Text Mining only
Renal cysts and diabetes syndrome	Renal Cysts And Diabetes Syndrome	ORPHANET_DG	24285859		★☆☆☆☆ Found in Text Mining only
Renal glomerular disease	Renal Glomerular Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Renal tubular disorder	Renal Tubular Disorder	BEFREE	25819479		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	BEFREE	26240958, 26479152		★☆☆☆☆ Found in Text Mining only
Retinal Diseases	Retinal Diseases	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	BEFREE	30509085		★☆☆☆☆ Found in Text Mining only
Rickets	Rickets	HPO_DG			★☆☆☆☆ Found in Text Mining only
Rickets Hypophosphatemic	Hypophosphatemic rickets	Pubtator	22802087, 33251707	Associate	★☆☆☆☆ Found in Text Mining only
Sarcomatoid Renal Cell Carcinoma	Renal Carcinoma	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Sarcosinemia	Sarcosinemia	Pubtator	28387599	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	Pubtator	29907492	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Scleroderma Systemic	Systemic sclerosis	Pubtator	28387599	Associate	★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	29066969		★☆☆☆☆ Found in Text Mining only
Simple renal cyst	Renal cyst	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sinusitis	Sinusitis	Pubtator	35154161	Associate	★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	30086370		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin neoplasm	Pubtator	23690679	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	15514942, 18602747, 20457486		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	20028760, 30404566, 33315534, 36142321	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	28782802		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	17379603, 21566527, 25195525, 26100857, 26806650, 27661118, 28394260, 28981086, 29150932, 30455723, 30484681, 31637472		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	HPO_DG			★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	17300672, 21487519, 21494638, 23714368, 24004449, 25410163, 25965823, 26870992, 29344114, 31068366		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach disease	Pubtator	34037532	Inhibit	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	17149756, 21494638, 23714368, 26472090, 28583188, 28640116, 34635154, 36430456, 37296105	Associate	★☆☆☆☆ Found in Text Mining only
Telomeric 22q13 Monosomy Syndrome	22q13 monosomy syndrome	Pubtator	32516515	Inhibit	★☆☆☆☆ Found in Text Mining only
Thiamine Deficiency	Thiamine Deficiency	BEFREE	30008376		★☆☆☆☆ Found in Text Mining only
Thrombosis	Thrombosis	Pubtator	19786295, 33334146	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid Cancer Papillary	Papillary thyroid cancer	Pubtator	40427523	Associate	★☆☆☆☆ Found in Text Mining only
Thyroid carcinoma	Thyroid Carcinoma	BEFREE	20004952		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasm	Thyroid Neoplasm	LHGDN	18399756		★☆☆☆☆ Found in Text Mining only
Tracheobronchomalacia	Tracheobronchomalacia	BEFREE	31299421		★☆☆☆☆ Found in Text Mining only
Transient neonatal diabetes mellitus	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	28590426	Associate	★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	BEFREE	19915572, 21300624, 21831733, 22914433, 24415854, 28885228, 31435165		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	CTD_human_DG	19915572		★☆☆☆☆ Found in Text Mining only
Uremia	Uremia	Pubtator	23809614	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29620261, 37016361	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	29762827	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	36380687	Associate	★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular Diseases	BEFREE	20716378		★☆☆☆☆ Found in Text Mining only
Vascular Diseases	Vascular disease	Pubtator	20716378	Associate	★☆☆☆☆ Found in Text Mining only
Xanthomatosis Cerebrotendinous	Xanthomatosis	Pubtator	15576845	Stimulate	★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	15576845		★☆☆☆☆ Found in Text Mining only
Xeroderma Pigmentosum	Xeroderma pigmentosum	Pubtator	30665703	Associate	★☆☆☆☆ Found in Text Mining only