CYP17A1 (cytochrome P450 family 17 subfamily A member 1)

Gene

• Entrez ID: 1586
• Gene name: Cytochrome P450 family 17 subfamily A member 1
• Gene symbol: CYP17A1
• Synonyms (NCBI Gene): CPT7, CYP17, P450C17, S17AH
• Chromosome: 10
• Chromosome location: 10q24.32
• Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein local

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894135	A>G	Pathogenic	Missense variant, coding sequence variant
rs104894138	G>A	Pathogenic	Missense variant, coding sequence variant
rs104894141	C>T	Pathogenic	Stop gained, coding sequence variant
rs104894146	A>C	Pathogenic	Missense variant, coding sequence variant
rs104894147	A>C	Pathogenic	Missense variant, coding sequence variant
rs104894148	T>A	Pathogenic	Missense variant, coding sequence variant
rs104894152	G>T	Pathogenic	Stop gained, coding sequence variant
rs104894153	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894154	C>T	Pathogenic	Missense variant, coding sequence variant
rs121434319	AAG>-	Pathogenic	Inframe deletion, coding sequence variant
rs764723654	A>G	Not-provided, pathogenic	Splice donor variant
rs786205061	C>A	Pathogenic	Intron variant
rs786205062	GACAATCACTGTAGTCTTGGTGCCC>-	Pathogenic	Coding sequence variant, frameshift variant
rs1395913655	T>G	Pathogenic	Splice acceptor variant
rs1590204913	T>C	Likely-pathogenic	Missense variant, initiator codon variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT920464	hsa-miR-3689a-3p	CLIP-seq
MIRT920465	hsa-miR-3689c	CLIP-seq
MIRT920466	hsa-miR-3714	CLIP-seq
MIRT920467	hsa-miR-3940-5p	CLIP-seq
MIRT920468	hsa-miR-4425	CLIP-seq
MIRT920469	hsa-miR-4481	CLIP-seq
MIRT920470	hsa-miR-4507	CLIP-seq
MIRT920471	hsa-miR-4745-5p	CLIP-seq
MIRT920472	hsa-miR-759	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
CREB1	Unknown	2543297
GATA4	Unknown	14988427
GATA6	Activation	15284005
GATA6	Unknown	14988427
NFIC	Activation	14684846
NFIC	Unknown	11463853
NR0B1	Repression	11592817
NR2F1	Repression	11592817
NR4A1	Unknown	20083153
NR5A1	Activation	17786540
NR5A1	Unknown	17664281;21467194;23530236
PIAS1	Unknown	21467194
SMAD3	Repression	17786540
SP1	Unknown	11379008;11463853
SP3	Unknown	11463853

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004508	Function	Steroid 17-alpha-monooxygenase activity	IBA
GO:0004508	Function	Steroid 17-alpha-monooxygenase activity	IDA	9452426, 22266943, 36640554
GO:0004508	Function	Steroid 17-alpha-monooxygenase activity	IEA
GO:0004508	Function	Steroid 17-alpha-monooxygenase activity	IMP	22170710, 24140098
GO:0004508	Function	Steroid 17-alpha-monooxygenase activity	TAS	1347802
GO:0005506	Function	Iron ion binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	NAS	9326943
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006694	Process	Steroid biosynthetic process	TAS	3500022
GO:0006702	Process	Androgen biosynthetic process	IEA
GO:0006702	Process	Androgen biosynthetic process	TAS
GO:0006704	Process	Glucocorticoid biosynthetic process	IEA
GO:0006704	Process	Glucocorticoid biosynthetic process	IEA
GO:0006704	Process	Glucocorticoid biosynthetic process	TAS
GO:0007548	Process	Sex differentiation	TAS	9326943
GO:0008202	Process	Steroid metabolic process	IDA	22266943
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008395	Function	Steroid hydroxylase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0016712	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0019825	Function	Oxygen binding	TAS	2808364
GO:0020037	Function	Heme binding	IDA	22266943
GO:0020037	Function	Heme binding	IEA
GO:0030424	Component	Axon	IEA
GO:0034651	Process	Cortisol biosynthetic process	IDA	9452426
GO:0042445	Process	Hormone metabolic process	IEA
GO:0042446	Process	Hormone biosynthetic process	IBA
GO:0042446	Process	Hormone biosynthetic process	IDA	22266943
GO:0042448	Process	Progesterone metabolic process	IBA
GO:0042448	Process	Progesterone metabolic process	IDA	22266943
GO:0043025	Component	Neuronal cell body	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0120254	Process	Olefinic compound metabolic process	IEA

Other IDs

• MIM: 609300
• HGNC: 2593
• e!Ensembl: ENSG00000148795

Protein

• UniProt ID: P05093
• Protein name: Steroid 17-alpha-hydroxylase/17,20 lyase (EC 1.14.14.19) (17-alpha-hydroxyprogesterone aldolase) (EC 1.14.14.32) (CYPXVII) (Cytochrome P450 17A1) (Cytochrome P450-C17) (Cytochrome P450c17) (Steroid 17-alpha-monooxygenase)
• Protein function: A cytochrome P450 monooxygenase involved in corticoid and androgen biosynthesis (PubMed:22266943, PubMed:25301938, PubMed:27339894, PubMed:9452426). Catalyzes 17-alpha hydroxylation of C21 steroids, which is common for both pathways. A second ox
• PDB: 3RUK, 3SWZ, 4NKV, 4NKW, 4NKX, 4NKY, 4NKZ, 5IRQ, 5IRV, 5UYS, 6CHI, 6CIR, 6CIZ, 6WR0, 6WR1, 6WW0, 8FDA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	28 → 493	Cytochrome P450	Domain

• Sequence:

  MWELVALLLLTLAYLFWPKRRCPGAKYPKSLLSLPLVGSLPFLPRHGHMHNNFFKLQKKY
  GPIYSVRMGTKTTVIVGHHQLAKEVLIKKGKDFSGRPQMATLDIASNNRKGIAFADSGAH
  WQLHRRLAMATFALFKDGDQKLEKIICQEISTLCDMLATHNGQSIDISFPVFVAVTNVIS
  LICFNTSYKNGDPELNVIQNYNEGIIDNLSKDSLVDLVPWLKIFPNKTLEKLKSHVKIRN
  DLLNKILENYKEKFRSDSITNMLDTLMQAKMNSDNGNAGPDQDSELLSDNHILTTIGDIF
  GAGVETTTSVVKWTLAFLLHNPQVKKKLYEEIDQNVGFSRTPTISDRNRLLLLEATIREV
  LRLRPVAPMLIPHKANVDSSIGEFAVDKGTEVIINLWALHHNEKEWHQPDQFMPERFLNP
  AGTQLISPSVSYLPFGAGPRSCIGEILARQELFLIMAWLLQRFDLEVPDDGQLPSLEGIP
  KVVFLIDSFKVKIKVRQAWREAQAEGST

• Sequence length: 508

Pathways

KEGG:

Steroid hormone biosynthesis
Metabolic pathways
Ovarian steroidogenesis
Prolactin signaling pathway
Cortisol synthesis and secretion
Cushing syndrome

Reactome:

Androgen biosynthesis
Glucocorticoid biosynthesis
Defective CYP17A1 causes Adrenal hyperplasia 5 (AH5)

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
17,20-lyase deficiency, isolated	Pathogenic; Likely pathogenic	rs61754278, rs104894139	RCV000001860 RCV000001861	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
17-alpha-hydroxylase/17,20-lyase deficiency, combined complete	Likely pathogenic; Pathogenic	rs556794126, rs1844147475, rs104894135, rs104894138, rs1564777724, rs104894141, rs786205061, rs104894146, rs104894147, rs104894142, rs104894143, rs104894144, rs104894145, rs104894152, rs104894153, rs104894154, rs104894155, rs756135168	RCV000001849 RCV000001851 RCV000001852 RCV000001858 RCV000001859 RCV000001862 RCV000001863 RCV000001864 RCV000001865 RCV000001869 RCV000001870 RCV000001871 RCV000001872 RCV000001874 RCV000001875 RCV000001876 RCV000001877 RCV002265882	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
17-alpha-hydroxylase/17,20-lyase deficiency, combined partial	Likely pathogenic; Pathogenic	rs121434319, rs104894136, rs104894137, rs2134081192, rs104894148, rs104894149, rs786205062, rs104894151, rs1395913655	RCV000001850 RCV000001854 RCV000001856 RCV000001857 RCV000001866 RCV000001867 RCV000001868 RCV000001879 RCV000001880	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	Pathogenic; Likely pathogenic	rs104894149, rs374769118	RCV003988818 RCV003992773	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Breast cancer, susceptibility to	Pathogenic	rs104894136	RCV000001855	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital adrenal hyperplasia	Likely pathogenic; Pathogenic	rs367833709, rs1423560123, rs777638364, rs1844148108, rs61754262, rs556794126, rs104894138, rs104894139, rs104894149, rs104894142, rs104894153, rs769188557, rs774737304, rs868228603, rs773865367, rs751960113	RCV004782730 RCV004699349 RCV005912581 RCV003323935 RCV002222923 RCV002223055 RCV002271363 RCV003114170 RCV001804710 RCV001804711 RCV003114171 RCV002298430 RCV004765854 RCV004690416 RCV004690417 RCV004690508 RCV004586262	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CYP17A1-related disorder	Pathogenic; Likely pathogenic	rs367833709, rs104894135, rs104894142, rs104894155, rs1458440922, rs879802265, rs1844105842	RCV003401710 RCV003914797 RCV003415624 RCV003398415 RCV003906153 RCV004749630 RCV003898242	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Deficiency of steroid 17-alpha-monooxygenase	Pathogenic; Likely pathogenic	rs942376359, rs367833709, rs1423560123, rs1844126291, rs2134082367, rs1173000590, rs777638364, rs757083287, rs752540777, rs1250463562, rs371825363, rs1844148108, rs61754262, rs556794126, rs121434319, rs104894135, rs104894136, rs104894137, rs104894138, rs1564777724, rs61754278, rs104894139, rs104894149, rs104894142, rs104894143, rs104894145, rs104894153, rs104894154, rs104894155, rs2493242253, rs1402132413, rs760032797, rs752164207, rs773278607, rs2493243250, rs1315561755, rs769188557, rs749406474, rs2493234394, rs772804570, rs2493238640, rs2493242260, rs759060233, rs2493245827, rs531000872, rs2493234210, rs908660542, rs2493235632, rs2493241834, rs2493245623, rs2493240521, rs763398879, rs774737304, rs2493239019, rs2493241953, rs746813353, rs2480384074, rs2493240549, rs868228603, rs374769118, rs1360362529, rs1178684770, rs1366534270, rs2493243222, rs773865367, rs2493238663, rs2493243005, rs1844148492, rs1060499582, rs764723654, rs1554879846, rs756135168, rs760695410, rs766331452, rs1590204913, rs1458440922, rs752811843, rs879802265, rs1844105842, rs1590203064	RCV003465920 RCV003469628 RCV001826120 RCV001826121 RCV003469620 RCV001826177 RCV001780601 RCV003470899 RCV003470931 RCV004571738 RCV003317561 RCV003471287 RCV003471269 RCV002221694 RCV003471292 RCV002502035 RCV000337017 RCV001826402 RCV000763211 RCV000709946 RCV005632151 RCV000501502 RCV004566670 RCV000185577 RCV003466780 RCV002221463 RCV001831505 RCV003466781 RCV001831506 RCV003460404 RCV001826403 RCV003225015 RCV002288295 RCV003465949 RCV004572742 RCV003465813 RCV004571254 RCV003143879 RCV004572922 RCV003468627 RCV003468628 RCV003468629 RCV003468632 RCV003468633 RCV003468634 RCV003468635 RCV003468636 RCV003468637 RCV003468638 RCV003468639 RCV003468640 RCV003468641 RCV003468642 RCV003468643 RCV003468645 RCV003468646 RCV003468647 RCV003468648 RCV003468649 RCV003468651 RCV003468652 RCV003468653 RCV003468654 RCV003468655 RCV003468656 RCV004574102 RCV004574164 RCV004574322 RCV004549038 RCV004575749 RCV004575750 RCV004575751 RCV000477958 RCV000709945 RCV000500014 RCV000778268 RCV001830766 RCV002501117 RCV001830758 RCV003467722 RCV001833850 RCV002497801 RCV002499416 RCV001563705	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Differences in sex development	Likely pathogenic; Pathogenic	rs556794126, rs104894138, rs104894154	RCV005865147 RCV005865148 RCV005865149	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
46,XY DISORDER OF SEX DEVELOPMENT DUE TO ISOLATED 17,20-LYASE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMENORRHEA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANXIETY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CALCULUS OF BILE DUCT WITHOUT MENTION OF CHOLECYSTITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ADRENAL HYPERPLASIA DUE TO 17-ALPHA-HYDROXYLASE DEFICIENCY	—	Disgenet, Orphanet Disgenet, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ADRENAL HYPERPLASIA DUE TO 21 HYDROXYLASE DEFICIENCY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GENETIC PREDISPOSITION TO DISEASE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERKALEMIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION, MALIGNANT	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOPITUITARISM	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, FEMALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFERTILITY, MALE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALE INFERTILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MALIGNANT HYPERTENSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUROTIC DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NONALCOHOLIC STEATOHEPATITIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOPOROSIS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
17,20-Lyase Deficiency, Isolated	17,20-lyase deficiency	BEFREE	1665206		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
17,20-Lyase Deficiency, Isolated	17,20-lyase deficiency	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
46,XY disorder of sex development due to isolated 17,20-lyase deficiency	46, XY disorder of sex development	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acne	Acne	BEFREE	29285776		★☆☆☆☆ Found in Text Mining only
Acne Vulgaris	Acne	BEFREE	29285776		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	18491956		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of large intestine	Colorectal Cancer	GWASCAT_DG	26965516		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11572038, 21848792, 28584016, 29069700, 31351131		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	LHGDN	18505908		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	19755404, 9851803		★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	18422032, 21190981		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	12566726		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	17454159, 19884324, 22452398, 26920256, 27376429, 27959413, 28609197, 31464148, 33108090, 37542252, 37683689	Associate	★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia, congenital, type 5	Adrenal Hyperplasia, Congenital	UNIPROT_DG	10720067, 11549685, 11836339, 12466376, 14671162, 1515452, 1714904, 1740503, 19793597, 24140098, 24498484, 25650406, 2808364, 8027220, 8245018, 8345056, 8396144, 8550762		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia, congenital, type 5	Adrenal Hyperplasia, Congenital	BEFREE	11243732, 15562394, 1577471, 16121340, 1665206, 1714904, 21340157, 22954317, 24714196, 25765894, 26647153, 28609197, 29144824, 7629254, 8027220, 8245018, 8345056, 8855840, 8864743, 9250356		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia, congenital, type 5	Adrenal Hyperplasia, Congenital	CLINVAR_DG	11549685, 12466376, 12706306, 1577471, 15844475, 16477341, 16772352, 22087567, 26770544, 2786493, 27959413, 2843762, 9326943		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia, congenital, type 5	Adrenal Hyperplasia, Congenital	ORPHANET_DG	12466376		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia, congenital, type 5	Adrenal Hyperplasia, Congenital	GENOMICS_ENGLAND_DG	24593890		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia, congenital, type 5	Adrenal Hyperplasia, Congenital	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	31031706		★☆☆☆☆ Found in Text Mining only
Adrenogenital Syndrome	Adrenogenital Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma	B-cell Lymphoma	BEFREE	15916684		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	31397841		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	BEFREE	7849715		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	22057025	Associate	★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	BEFREE	1531179, 1740503, 20197673		★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	22087567, 26920256, 37542252	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	31358067	Associate	★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	8908530	Stimulate	★☆☆☆☆ Found in Text Mining only
Anorexia Nervosa	Anorexia	BEFREE	23775394		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	23775394		★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety disorder	Pubtator	27117436	Associate	★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	GWASCAT_DG	29942085		★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	23775394		★☆☆☆☆ Found in Text Mining only
Aortic Valve Insufficiency	Aortic Valve Insufficiency	BEFREE	19155198		★☆☆☆☆ Found in Text Mining only
Aplasia Cutis Congenita	Aplasia Cutis Congenita	BEFREE	31397841		★☆☆☆☆ Found in Text Mining only
Atypical absence seizure	Absence Seizure	BEFREE	21822006		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	33024080	Associate	★☆☆☆☆ Found in Text Mining only
B-Cell Lymphomas	B-Cell Lymphoma	BEFREE	20886547		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	BEFREE	26414697		★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Barrett esophagus	Pubtator	26414697	Associate	★☆☆☆☆ Found in Text Mining only
Bartter Disease	Bartter syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	10897051, 11059764, 11340572, 12370109, 12949806, 17961073, 18495332, 18722876, 19443382, 22796438, 24606449, 24875910, 26214411, 31293443		★☆☆☆☆ Found in Text Mining only
Biliary Tract Cancer	Biliary Tract Cancer	BEFREE	16381022		★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	15237001	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	28530704		★☆☆☆☆ Found in Text Mining only
Breast Cancer, Familial	Breast Cancer	BEFREE	12644832, 19863350		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	10070957, 10383140, 10404084, 10519398, 10840158, 11011114, 11036113, 11094312, 11142420, 11212283, 11358812, 11880540, 11955795, 12020974, 12368392, 12584742, 12631398, 12644832, 12652520, 12767515, 14566096, 14637391, 15604994, 15609124, 15642171, 15706422, 15761247, 15824149, 15987450, 15987458, 16121340, 16232327, 16280037, 16280038, 16702327, 16850246, 16969494, 17235448, 17307805, 18281250, 18483327, 18629629, 19379515, 19415745, 19469636, 19672705, 20013047, 20033766, 20043206, 20133979, 20432167, 20798986, 21129090, 21338212, 22418777, 24430361, 24629213, 26407154, 27083183, 27165202, 27365044, 28157646, 28540271, 29423115, 29510000, 31336362, 31367790, 31533365, 9067272, 9667690, 9796640, 9796641		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	19913079		★☆☆☆☆ Found in Text Mining only
Breast Cyst	Breast cyst	Pubtator	22456087	Associate	★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast Diseases	BEFREE	18483327		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11212283, 12631398, 12644832, 15237001, 15642171, 15987450, 15987458, 16280037, 16280038, 16702327, 18483327, 19379515, 19469636, 20072949, 21338212, 22418777, 24430361, 24629213, 25301938, 27165202, 28692125, 29510000, 36773804, 9067272	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms	Breast neoplasm	Pubtator	29510000	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Neoplasms Male	Male breast neoplasms	Pubtator	10487625, 12644832	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	24687554	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	17121532		★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29085212	Inhibit	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	29085212, 40389832	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	19174490, 22658813, 27339169		★☆☆☆☆ Found in Text Mining only
Carcinoma of Male Breast	Breast Carcinoma, male	BEFREE	10487625, 12644832, 31336362		★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	10760835, 12036914, 16783967, 20798986		★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	26263970	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	28445152	Associate	★☆☆☆☆ Found in Text Mining only
Cholecystolithiasis	Cholecystolithiasis	BEFREE	16381022, 26225710		★☆☆☆☆ Found in Text Mining only
Cholelithiasis	Cholelithiasis	BEFREE	16381022, 26225710		★☆☆☆☆ Found in Text Mining only
Cholestasis	Cholestasis	BEFREE	21123943		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	27339169		★☆☆☆☆ Found in Text Mining only
Cleft Palate	Cleft palate	Pubtator	27409606	Associate	★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	LHGDN	17606708		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	17606708, 21490239, 21627810		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	GWASCAT_DG	26965516		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21627810, 26965516	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	GWASCAT_DG	26965516		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	14671162, 15220035, 17379008, 18422032, 19454579, 20841309, 21190871, 22452398, 25765894, 26920256, 27376429, 2786493, 27959413, 28609197, 31388123		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	CTD_human_DG	18645707		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	GENOMICS_ENGLAND_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	Congenital adrenal hyperplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	18397975		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome	Pubtator	26607998, 28008861, 30614301, 30695673, 34097983, 36129002, 37316894, 37683689	Associate	★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	21248073, 26597777, 31636604		★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	21801737, 28787766		★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	25592814, 25889125, 31356544		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	21966275, 24681790, 25592814, 25889125, 31356544		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	21966275, 25592814, 25889125	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21347282, 21966275		★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	25592814, 25889125, 31356544		★☆☆☆☆ Found in Text Mining only
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	18645707		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	22648180		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cushing Syndrome	Cushing`s Syndrome	BEFREE	12608705, 19564722, 21848792, 28665508, 29803730		★☆☆☆☆ Found in Text Mining only
Deficiency of testosterone biosynthesis	Deficiency Of Testosterone Biosynthesis	BEFREE	30921671		★☆☆☆☆ Found in Text Mining only
Depressive Disorder	Major depressive disorder	Pubtator	27117436	Associate	★☆☆☆☆ Found in Text Mining only
Depressive Disorder Major	Major depressive disorder	Pubtator	28752602	Inhibit	★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32945709	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	23133444	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	LHGDN	11888844		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29942286		★☆☆☆☆ Found in Text Mining only
Diffuse Large B-Cell Lymphoma	Diffuse Lymphoma	BEFREE	15916684		★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	10877510, 29278670	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	19837910, 26980296, 27376429, 35682463, 38045661, 9601054	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down Syndrome	BEFREE	22057025		★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	22057025	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Endocrine System Diseases	Endocrine System Diseases	BEFREE	29229304		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	11221867, 11358812, 11911969, 15072828, 16515644, 17110639, 17167982, 18172694, 18318428, 19642097, 20886547, 23609033, 23649771, 30214592		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	BEFREE	16515644		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial hyperplasia	Pubtator	16515644	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	10065793, 16515644, 18437511	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	11911969, 12517592, 15072828, 18437511		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	11925378, 15749482, 15823822, 16527884, 17484509, 18930188, 20113968, 23809139, 25511200, 29995789		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	LHGDN	15749482		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	15749482, 17484509, 18930188, 23809139, 28614857, 29995789	Associate	★☆☆☆☆ Found in Text Mining only
Enlarged polycystic ovaries	Enlarged polycystic ovaries	HPO_DG			★☆☆☆☆ Found in Text Mining only
Epithelial ovarian cancer	Ovarian cancer	BEFREE	12036914		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	28537227		★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	28537227	Associate	★☆☆☆☆ Found in Text Mining only
Failure of Tooth Eruption, Primary	Failure Of Tooth Eruption	BEFREE	30195059		★☆☆☆☆ Found in Text Mining only
Familial multiple trichoepitheliomata	Multiple Trichoepithelioma	BEFREE	26414697		★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	15706422		★☆☆☆☆ Found in Text Mining only
Fibroadenoma	Fibroadenoma	BEFREE	15241822		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	BEFREE	14995917, 20171624, 21896988		★☆☆☆☆ Found in Text Mining only
Fibroid Tumor	Leiomyoma	LHGDN	14995917, 18601603, 18645709		★☆☆☆☆ Found in Text Mining only
Frigidity	Frigidity	CTD_human_DG	15890676		★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	24687554		★☆☆☆☆ Found in Text Mining only
Gallbladder Neoplasms	Gallbladder neoplasm	Pubtator	24687554	Associate	★☆☆☆☆ Found in Text Mining only
Gallstones	Gallstones	Pubtator	26225710	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Gastrointestinal neoplasm	Pubtator	40022682	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30022431, 31527549		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34505421	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30022431		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	BEFREE	28530704, 30439398		★☆☆☆☆ Found in Text Mining only
granulosa cell tumor	Granulosa Cell Tumor	BEFREE	28541629		★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	26607998, 33108090	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hereditary Angioedema Type III	Hereditary angioedema	Pubtator	22057025	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Cancer	Colorectal Cancer	BEFREE	17606708		★☆☆☆☆ Found in Text Mining only
Hereditary Nonpolyposis Colorectal Neoplasms	Colorectal Neoplasms	LHGDN	17606708		★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	11668516		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	14671162, 30427533, 8245018, 8855840		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	21248073, 23257735, 27681703, 33796077	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	11095477, 30682387, 31237951, 9135692, 9704303		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	32456493, 7479852	Associate	★☆☆☆☆ Found in Text Mining only
Hypercholesterolemia	Hypercholesterolemia	BEFREE	31170334		★☆☆☆☆ Found in Text Mining only
Hyperinsulinism	Hyperinsulinism	BEFREE	29720337		★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	25927242	Associate	★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	17454159, 20921432, 22087567, 23133444, 24597476, 26902494, 26920256, 28537227, 29278670, 29338791, 31885295, 32945709, 32977860	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	11344930, 11964027, 12701064, 14671162, 17192295, 17379008, 19728179, 20414254, 20841309, 20852445, 20921432, 21340163, 21822006, 21963141, 22048715, 22959498, 23467202, 23591986, 24597476, 25990650, 26263970, 28272372, 28487303, 28537227, 29338791, 29556032, 29942286, 31170334, 9435441		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	GWASCAT_DG	30487518		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	26263970	Associate	★☆☆☆☆ Found in Text Mining only
Hypoactive Sexual Desire Disorder	Hypoactive Sexual Desire Disorder	CTD_human_DG	15890676		★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	BEFREE	11422109		★☆☆☆☆ Found in Text Mining only
Hypogonadism	Hypogonadism	Pubtator	17454159, 26920256, 29278670	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism	Hypogonadism	CTD_human_DG	18645707		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypogonadism, Isolated Hypogonadotropic	Hypogonadism	CTD_human_DG	18645707		★☆☆☆☆ Found in Text Mining only
Hypogonadotropic hypogonadism	Hypogonadotropic Hypogonadism	CTD_human_DG	18645707		★☆☆☆☆ Found in Text Mining only
Hypokalemic alkalosis	Hypokalemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypopituitarism	Hypopituitarism	CTD_human_DG	12970278		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoplasia of vagina	Hypoplasia Of Vagina	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	21511288, 21676446, 22648180, 30858503		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	30858503	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotension Orthostatic	Orthostatic hypotension	Pubtator	22504314	Associate	★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	19837910, 23809139	Associate	★☆☆☆☆ Found in Text Mining only
Infertility Female	Female infertility	Pubtator	37316894	Associate	★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	25208301, 27748298, 7479852	Associate	★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholangiocarcinoma	Intrahepatic Cholangiocarcinoma	BEFREE	28445152		★☆☆☆☆ Found in Text Mining only
Intrahepatic Cholestasis of Pregnancy	Intrahepatic cholestasis of pregnancy	Pubtator	30484676	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyoma	Leiomyoma	Pubtator	18645709	Associate	★☆☆☆☆ Found in Text Mining only
Lip and Oral Cavity Carcinoma	Lip and Oral Cavity Carcinoma	BEFREE	15799583		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11698569, 12971967, 15341023, 19064581, 27339169, 28445152		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	15341023		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	27339169		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	LHGDN	12971967		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	19174490	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	16214922		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	15916684		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	15916684		★☆☆☆☆ Found in Text Mining only
Lynch Syndrome	Lynch Syndrome	BEFREE	17606708		★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	BEFREE	28752602		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Male Pseudohermaphroditism	Male Pseudohermaphroditism	BEFREE	14671162		★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant Hypertension	Malignant Hypertension	CTD_human_DG	3142437		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast	Breast Cancer	BEFREE	10070957, 10383140, 10404084, 10519398, 10840158, 11011114, 11036113, 11094312, 11142420, 11212283, 11358812, 11880540, 11955795, 12020974, 12368392, 12584742, 12631398, 12644832, 12652520, 12767515, 14566096, 14637391, 15604994, 15609124, 15642171, 15706422, 15761247, 15824149, 15987450, 15987458, 16121340, 16232327, 16280037, 16280038, 16702327, 16850246, 16969494, 17235448, 17307805, 18281250, 18483327, 18629629, 19379515, 19415745, 19469636, 19672705, 20013047, 20033766, 20043206, 20133979, 20432167, 20798986, 21129090, 21338212, 22418777, 24430361, 24629213, 26407154, 27083183, 27165202, 27365044, 28157646, 28540271, 28692125, 29423115, 29510000, 31336362, 31367790, 31533365, 9067272, 9667690, 9796640, 9796641		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	19913079		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	11221867, 11358812, 11911969, 15072828, 16515644, 17110639, 17167982, 18172694, 18318428, 19642097, 20886547, 23609033, 23649771, 30214592		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gallbladder	Gallbladder cancer	BEFREE	16381022, 24687554, 26225710		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	12457455		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of large intestine	Colorectal Neoplasms	GWASCAT_DG	26965516		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	12971967		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	19174490, 22658813, 27339169		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of mouth	Malignant neoplasm of mouth	BEFREE	15799583		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	10760835, 12036914, 16783967, 20798986		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	19642097, 23015357, 27165211		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10469617, 10591544, 10897051, 11059764, 11303586, 11340572, 11440959, 11535545, 11668516, 11847524, 11895872, 12582021, 12949806, 12954495, 14560315, 15195127, 15477877, 15865082, 16103457, 16716118, 16720291, 16859836, 17108148, 17194026, 17328668, 17592021, 17785571, 17961073, 17986287, 18006912, 18163429, 18438175, 18491956, 18495332, 18722876, 19443382, 19505920, 20027111, 20099974, 20503394, 21193363, 21656827, 21919858, 22528335, 22796438, 23129512, 23621184, 23896594, 24007292, 24449822, 25323563, 25337833, 25960412, 26214411, 26714839, 26985923, 27339169, 28036278, 28350999, 28463227, 28530704, 28852974, 28890368, 29229304, 29372682, 29441980, 29758981, 29803730, 30431391, 30537624, 30769265, 30770950, 30885648, 31017696, 31533365		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	15538743, 16424004, 16859836, 16998812, 17592021		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	10404084, 10519398, 11011114, 11142420, 16214922, 16515644, 16783967, 24007292, 26225710, 27083183, 28530704, 30885648		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	GWASCAT_DG	26965516		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	19913079		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	12767515, 28692125		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15609124, 15761247, 17077994, 17235448, 18281250		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	19913079		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	19913079		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	27010496, 29803730		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	28819727		★☆☆☆☆ Found in Text Mining only
Micropenis	Micropenis	BEFREE	23291414		★☆☆☆☆ Found in Text Mining only
Miscarriage	Miscarriage	BEFREE	16052406		★☆☆☆☆ Found in Text Mining only
Mood Disorders	Mood disorder	Pubtator	27117436	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	28707358		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy Duchenne	Duchenne muscular dystrophy	Pubtator	17002564	Associate	★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	24681790		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myocardial Infarction	Myocardial Infarction	GWASCAT_DG	26343387		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neoplasms	Neoplasms	BEFREE	10404084, 10760835, 11059764, 11196414, 16730930, 16783967, 17328668, 19564722, 21807635, 21896988, 24882673, 25320358, 27365044, 27430645, 27748439, 28036278, 28541629, 29069700, 29167276, 29231195, 30029732, 30439398, 31283987, 31527549, 8994191, 9730607		★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	CTD_human_DG	15706422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	22658813		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	8557160		★☆☆☆☆ Found in Text Mining only
Nonalcoholic Steatohepatitis	Non-alcoholic Fatty Liver Disease	CTD_human_DG	15706422		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Obesity	Obesity	BEFREE	22653668		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	22653668, 27748298, 29220676	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	31417029	Stimulate	★☆☆☆☆ Found in Text Mining only
Oestrogen receptor positive breast cancer	Oestrogen Receptor Positive Breast Cancer	BEFREE	21129090		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	24140493		★☆☆☆☆ Found in Text Mining only
Orgasmic Disorder	Orgasmic Disorder	CTD_human_DG	15890676		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	BEFREE	14715870, 15129369, 17002564, 21948762, 22653668		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	LHGDN	14715870		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	Pubtator	15237001, 17002564	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteoporosis	Osteoporosis	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	18645707		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature	Ovarian Failure	BEFREE	21505076, 28887105		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ovarian neoplasm	Ovarian neoplasm	BEFREE	10760835, 12036914, 16783967, 20798986, 28692125		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	24097974, 25027547, 26526982, 32590918, 8557160	Associate	★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	19642097, 23015357, 27165211		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	19642097, 27165211	Associate	★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASDB_DG	19915575		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASCAT_DG	19915575		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Penile hypospadias	Penile Hypospadias	BEFREE	21511288, 21676446, 22648180, 30858503		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	BEFREE	23291414		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Nervous System Diseases	Nervous System Diseases	BEFREE	31387001		★☆☆☆☆ Found in Text Mining only
Peripheral Neuropathy	Peripheral Neuropathy	BEFREE	31387001		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	10065777, 10070957, 10379893, 10852468, 11095477, 11379008, 11821083, 11955795, 14644808, 14684846, 15284005, 15482786, 15598676, 17895316, 18636181, 18725155, 19013303, 19387820, 22237020, 22238371, 24706793, 25208301, 26096606, 27748298, 28505284, 29074860, 29564739, 29942286, 30348693, 30802211, 31184707, 7849715, 9135692, 9211124, 9922107		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	10065777, 11821083, 18725155, 21824047, 22238371, 24706793, 25208301, 27748298, 29074860, 29564739, 31184707, 32456493, 32960117, 7479852	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	14644808, 14684846, 17895316		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	34233642	Stimulate	★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	CTD_human_DG	18645707		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	BEFREE	21340163, 26920256, 29144824		★☆☆☆☆ Found in Text Mining only
Primary hypogonadism	Hypogonadism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	BEFREE	12701064, 19169487, 19728179		★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate cancer familial	Prostate cancer	Pubtator	15865082	Associate	★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	11895872, 15865082		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10469617, 10591544, 10897051, 11059764, 11303586, 11340572, 11440959, 11535545, 11668516, 11847524, 11895872, 12582021, 12949806, 12954495, 14560315, 15195127, 15477877, 15865082, 16103457, 16716118, 16720291, 16859836, 17108148, 17194026, 17328668, 17592021, 17785571, 17961073, 17986287, 18006912, 18163429, 18438175, 18491956, 18495332, 18722876, 19443382, 19505920, 20027111, 20099974, 20503394, 21193363, 21656827, 21919858, 22528335, 22796438, 23129512, 23621184, 23896594, 24007292, 24449822, 25323563, 25337833, 25960412, 26214411, 26714839, 26985923, 27339169, 28036278, 28350999, 28463227, 28530704, 28852974, 28890368, 29183745, 29229304, 29372682, 29441980, 29758981, 29803730, 30431391, 30537624, 30769265, 30770950, 30885648, 31017696, 31533365		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	12949806		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	BEFREE	12370109		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	LHGDN	17961073		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	24606449, 39806744	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11847524, 15865082, 17194026, 18163429, 19443382, 19642097, 20503394, 22174412, 22411952, 22542949, 23129512, 23621184, 25337833, 26985923, 28981526, 31017696, 36773804, 38104728	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	15477877, 16519145, 17826473, 17986287		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	15538743, 16424004, 16859836, 16998812, 17592021		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	15828836		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohermaphroditism	Pseudohermaphroditism	BEFREE	16772352		★☆☆☆☆ Found in Text Mining only
Psychosexual Disorders	Psychosexual Disorders	CTD_human_DG	15890676		★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	17454159, 26263970	Associate	★☆☆☆☆ Found in Text Mining only
Rectal Carcinoma	Rectal Carcinoma	BEFREE	17606708		★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	12457455		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	10609072, 15235815		★☆☆☆☆ Found in Text Mining only
Sarcoma Alveolar Soft Part	Sarcoma	Pubtator	19146682	Associate	★☆☆☆☆ Found in Text Mining only
Seminoma	Seminoma	BEFREE	25927242		★☆☆☆☆ Found in Text Mining only
Sexual Arousal Disorder	Sexual Arousal Disorder	CTD_human_DG	15890676		★☆☆☆☆ Found in Text Mining only
Sexual Infantilism	Sexual Infantilism	BEFREE	17379008, 18422032, 24140098, 28487303		★☆☆☆☆ Found in Text Mining only
Sheehan Syndrome	Sheehan Syndrome	CTD_human_DG	12970278		★☆☆☆☆ Found in Text Mining only
Spondylarthritis	Spondyloarthritis	BEFREE	15372520		★☆☆☆☆ Found in Text Mining only
Steatohepatitis	Fatty Liver	BEFREE	15706422		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	19015200, 27893427	Associate	★☆☆☆☆ Found in Text Mining only
Subfertility, Female	Subfertility	CTD_human_DG	18645707		★☆☆☆☆ Found in Text Mining only
Sveinsson Chorioretinal Atrophy	Sveinsson chorioretinal atrophy	Pubtator	27409606	Associate	★☆☆☆☆ Found in Text Mining only
Thrombophilia	Thrombophilia	Pubtator	15237001	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	10065777, 11379008, 27496950		★☆☆☆☆ Found in Text Mining only
Urinary Bladder Calculi	Urinary bladder calculi	Pubtator	26225710	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Diseases	Uterine polyp	Pubtator	16515644	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Fibroids	Uterine Fibroids	BEFREE	14995917, 16603433, 18601603, 18645709, 20171624, 21896988		★☆☆☆☆ Found in Text Mining only
Ventricular Dysfunction Left	Ventricular dysfunction	Pubtator	26263970	Associate	★☆☆☆☆ Found in Text Mining only