CYP19A1 (cytochrome P450 family 19 subfamily A member 1)

Gene

• Entrez ID: 1588
• Gene name: Cytochrome P450 family 19 subfamily A member 1
• Gene symbol: CYP19A1
• Synonyms (NCBI Gene): ARO, ARO1, CPV1, CYAR, CYP19, CYPXIX, P-450AROM
• Chromosome: 15
• Chromosome location: 15q21.2
• 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT006759	hsa-miR-378a-3p	Luciferase reporter assay	21846797
MIRT006759	hsa-miR-378a-3p	Luciferase reporter assay	21846797
MIRT006759	hsa-miR-378a-3p	Luciferase reporter assay	21846797
MIRT006759	hsa-miR-378a-3p	Luciferase reporter assay	21846797
MIRT006759	hsa-miR-378a-3p	Luciferase reporter assay	21846797
MIRT006759	hsa-miR-378a-3p	Luciferase reporter assay	21846797
MIRT006943	hsa-let-7f-5p	Luciferase reporter assay	22407818
MIRT007270	hsa-miR-106a-5p	Luciferase reporter assay	23438603
MIRT007271	hsa-miR-19b-3p	Luciferase reporter assay	23438603
MIRT017035	hsa-miR-335-5p	Microarray	18185580
MIRT052994	hsa-miR-98-5p	Luciferase reporter assay, qRT-PCR, Western blot	22492871
MIRT052994	hsa-miR-98-5p	qRT-PCR, Luciferase reporter assay, Western blot	25496461
MIRT052994	hsa-miR-98-5p	qRT-PCR, Luciferase reporter assay, Western blot	25496461
MIRT735058	hsa-miR-4463	Western blotting, Microarray, qRT-PCR, ELISA	32854459
MIRT920473	hsa-let-7a	CLIP-seq
MIRT920474	hsa-let-7b	CLIP-seq
MIRT920475	hsa-let-7c	CLIP-seq
MIRT920476	hsa-let-7d	CLIP-seq
MIRT920477	hsa-let-7e	CLIP-seq
MIRT920478	hsa-let-7f	CLIP-seq
MIRT920479	hsa-let-7g	CLIP-seq
MIRT920480	hsa-let-7i	CLIP-seq
MIRT920481	hsa-miR-1185	CLIP-seq
MIRT920482	hsa-miR-1208	CLIP-seq
MIRT920483	hsa-miR-1255a	CLIP-seq
MIRT920484	hsa-miR-1255b	CLIP-seq
MIRT920485	hsa-miR-1294	CLIP-seq
MIRT920486	hsa-miR-1304	CLIP-seq
MIRT920487	hsa-miR-1324	CLIP-seq
MIRT920488	hsa-miR-139-5p	CLIP-seq
MIRT920489	hsa-miR-181a	CLIP-seq
MIRT920490	hsa-miR-181b	CLIP-seq
MIRT920491	hsa-miR-181c	CLIP-seq
MIRT920492	hsa-miR-181d	CLIP-seq
MIRT920493	hsa-miR-1911	CLIP-seq
MIRT920494	hsa-miR-202	CLIP-seq
MIRT920495	hsa-miR-25	CLIP-seq
MIRT920496	hsa-miR-3064-3p	CLIP-seq
MIRT920497	hsa-miR-3117-5p	CLIP-seq
MIRT920498	hsa-miR-3120-3p	CLIP-seq
MIRT920499	hsa-miR-3121-3p	CLIP-seq
MIRT920500	hsa-miR-3140-3p	CLIP-seq
MIRT920501	hsa-miR-3159	CLIP-seq
MIRT920502	hsa-miR-3166	CLIP-seq
MIRT920503	hsa-miR-32	CLIP-seq
MIRT920504	hsa-miR-335	CLIP-seq
MIRT920505	hsa-miR-3605-5p	CLIP-seq
MIRT920506	hsa-miR-363	CLIP-seq
MIRT920507	hsa-miR-3659	CLIP-seq
MIRT920508	hsa-miR-367	CLIP-seq
MIRT920509	hsa-miR-3679-5p	CLIP-seq
MIRT920510	hsa-miR-3692	CLIP-seq
MIRT920511	hsa-miR-3918	CLIP-seq
MIRT920512	hsa-miR-3936	CLIP-seq
MIRT920513	hsa-miR-409-3p	CLIP-seq
MIRT920514	hsa-miR-425	CLIP-seq
MIRT920515	hsa-miR-4255	CLIP-seq
MIRT920516	hsa-miR-4262	CLIP-seq
MIRT920517	hsa-miR-4316	CLIP-seq
MIRT920518	hsa-miR-4328	CLIP-seq
MIRT920519	hsa-miR-4420	CLIP-seq
MIRT920520	hsa-miR-4436b-5p	CLIP-seq
MIRT920521	hsa-miR-4458	CLIP-seq
MIRT920522	hsa-miR-4500	CLIP-seq
MIRT920523	hsa-miR-4677-3p	CLIP-seq
MIRT920524	hsa-miR-4712-3p	CLIP-seq
MIRT920525	hsa-miR-4715-3p	CLIP-seq
MIRT920526	hsa-miR-4775	CLIP-seq
MIRT920527	hsa-miR-4776-3p	CLIP-seq
MIRT920528	hsa-miR-513a-3p	CLIP-seq
MIRT920529	hsa-miR-520d-5p	CLIP-seq
MIRT920530	hsa-miR-524-5p	CLIP-seq
MIRT920531	hsa-miR-922	CLIP-seq
MIRT920532	hsa-miR-92a	CLIP-seq
MIRT920533	hsa-miR-92b	CLIP-seq
MIRT920534	hsa-miR-98	CLIP-seq
MIRT920488	hsa-miR-139-5p	CLIP-seq
MIRT920535	hsa-miR-2909	CLIP-seq
MIRT920498	hsa-miR-3120-3p	CLIP-seq
MIRT920500	hsa-miR-3140-3p	CLIP-seq
MIRT920502	hsa-miR-3166	CLIP-seq
MIRT920511	hsa-miR-3918	CLIP-seq
MIRT920536	hsa-miR-4278	CLIP-seq
MIRT920531	hsa-miR-922	CLIP-seq
MIRT1547753	hsa-miR-3170	CLIP-seq
MIRT1547754	hsa-miR-4260	CLIP-seq
MIRT1547755	hsa-miR-4747-5p	CLIP-seq
MIRT1547756	hsa-miR-583	CLIP-seq
MIRT1547757	hsa-miR-615-5p	CLIP-seq
MIRT1972778	hsa-miR-3647-3p	CLIP-seq
MIRT1972779	hsa-miR-4502	CLIP-seq
MIRT920473	hsa-let-7a	CLIP-seq
MIRT920474	hsa-let-7b	CLIP-seq
MIRT920475	hsa-let-7c	CLIP-seq
MIRT920476	hsa-let-7d	CLIP-seq
MIRT920477	hsa-let-7e	CLIP-seq
MIRT920478	hsa-let-7f	CLIP-seq
MIRT920479	hsa-let-7g	CLIP-seq
MIRT920480	hsa-let-7i	CLIP-seq
MIRT920486	hsa-miR-1304	CLIP-seq
MIRT920494	hsa-miR-202	CLIP-seq
MIRT920499	hsa-miR-3121-3p	CLIP-seq
MIRT920501	hsa-miR-3159	CLIP-seq
MIRT2208437	hsa-miR-3675-3p	CLIP-seq
MIRT2208438	hsa-miR-3689a-3p	CLIP-seq
MIRT2208439	hsa-miR-3689c	CLIP-seq
MIRT920513	hsa-miR-409-3p	CLIP-seq
MIRT2208440	hsa-miR-4453	CLIP-seq
MIRT920521	hsa-miR-4458	CLIP-seq
MIRT920522	hsa-miR-4500	CLIP-seq
MIRT2208441	hsa-miR-4538	CLIP-seq
MIRT920528	hsa-miR-513a-3p	CLIP-seq
MIRT2208442	hsa-miR-548u	CLIP-seq
MIRT920534	hsa-miR-98	CLIP-seq
MIRT2512293	hsa-miR-4263	CLIP-seq
MIRT2208442	hsa-miR-548u	CLIP-seq
MIRT2512294	hsa-miR-576-5p	CLIP-seq
MIRT2512293	hsa-miR-4263	CLIP-seq
MIRT2208442	hsa-miR-548u	CLIP-seq
MIRT2512294	hsa-miR-576-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
BRCA1	Activation	21087664
BRCA1	Unknown	19445691
CEBPB	Repression	11994385
CEBPB	Unknown	7635140;8603036
CEBPD	Repression	11994385
CREB1	Activation	15955695;16740737
ESR1	Activation	12839940
ESRRA	Activation	15955695;20351196;23340254
ESRRA	Unknown	11973645
FOXL2	Repression	21862621
JUN	Repression	16810058
NFKB1	Repression	15459115
NR0B1	Repression	12213901;22427816
NR2F1	Unknown	11973645
NR2F6	Unknown	11973645
NR3C1	Activation	16740737
NR5A1	Activation	12213901;21087664
NR5A1	Repression	22427816
NR5A2	Unknown	11927588
PGR	Repression	18483177
RARG	Unknown	11973645
RELA	Repression	15459115;18519709
SP1	Unknown	15072557
STAT3	Unknown	15072557
USF1	Repression	12917334
USF2	Repression	12917334
WT1	Repression	12213901

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IEA
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006694	Process	Steroid biosynthetic process	TAS	2848247
GO:0006703	Process	Estrogen biosynthetic process	TAS
GO:0006710	Process	Androgen catabolic process	IDA	26482249
GO:0008395	Function	Steroid hydroxylase activity	TAS
GO:0008585	Process	Female gonad development	IBA	21873635
GO:0009055	Function	Electron transfer activity	TAS	2848247
GO:0016020	Component	Membrane	TAS	2848247
GO:0016021	Component	Integral component of membrane	IEA
GO:0016125	Process	Sterol metabolic process	TAS
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	TAS	1371509
GO:0019825	Function	Oxygen binding	TAS	2848247
GO:0020037	Function	Heme binding	IDA	19129847
GO:0022900	Process	Electron transport chain	IEA
GO:0032355	Process	Response to estradiol	IBA	21873635
GO:0070330	Function	Aromatase activity	IBA	21873635
GO:0070330	Function	Aromatase activity	IDA	19129847, 26482249
GO:2000866	Process	Positive regulation of estradiol secretion	IDA	26482249

Other IDs

• MIM: 107910
• HGNC: 2594
• e!Ensembl: ENSG00000137869

Protein

• UniProt ID: P11511
• Protein name: Aromatase (EC 1.14.14.14) (CYPXIX) (Cytochrome P-450AROM) (Cytochrome P450 19A1) (Estrogen synthase)
• Protein function: A cytochrome P450 monooxygenase that catalyzes the conversion of C19 androgens, androst-4-ene-3,17-dione (androstenedione) and testosterone to the C18 estrogens, estrone and estradiol, respectively (PubMed:27702664, PubMed:2848247). Catalyzes th
• PDB: 3EQM, 3S79, 3S7S, 4GL5, 4GL7, 4KQ8, 5JKV, 5JKW, 5JL6, 5JL7, 5JL9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	46 → 488	Cytochrome P450	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed, including in adult and fetal brain, placenta, skin fibroblasts, adipose tissue and gonads. {ECO:0000269|PubMed:2040633, ECO:0000269|PubMed:3018730, ECO:0000269|PubMed:7690033, ECO:0000269|PubMed:8117272}.
• Sequence:

  MVLEMLNPIHYNITSIVPEAMPAATMPVLLLTGLFLLVWNYEGTSSIPGPGYCMGIGPLI
  SHGRFLWMGIGSACNYYNRVYGEFMRVWISGEETLIISKSSSMFHIMKHNHYSSRFGSKL
  GLQCIGMHEKGIIFNNNPELWKTTRPFFMKALSGPGLVRMVTVCAESLKTHLDRLEEVTN
  ESGYVDVLTLLRRVMLDTSNTLFLRIPLDESAIVVKIQGYFDAWQALLIKPDIFFKISWL
  YKKYEKSVKDLKDAIEVLIAEKRRRISTEEKLEECMDFATELILAEKRGDLTRENVNQCI
  LEMLIAAPDTMSVSLFFMLFLIAKHPNVEEAIIKEIQTVIGERDIKIDDIQKLKVMENFI
  YESMRYQPVVDLVMRKALEDDVIDGYPVKKGTNIILNIGRMHRLEFFPKPNEFTLENFAK
  NVPYRYFQPFGFGPRGCAGKYIAMVMMKAILVTLLRRFHVKTLQGQCVESIQKIHDLSLH
  PDETKNMLEMIFTPRNSDRCLEH

• Sequence length: 503

Pathways

KEGG:

Steroid hormone biosynthesis
Metabolic pathways
Ovarian steroidogenesis

Reactome:

Estrogen biosynthesis
Endogenous sterols
Defective CYP19A1 causes Aromatase excess syndrome (AEXS)

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Adenocarcinoma	Adenocarcinoma, Adenocarcinoma, Basal Cell, Adenocarcinoma, Oxyphilic, Adenocarcinoma, Tubular	rs121913530, rs886039394, rs121913474	21472143
Aromatase deficiency	Aromatase deficiency	rs121434534, rs78310315, rs786205107, rs121434536, rs786205108, rs786205109, rs80051519, rs786205110, rs121434538, rs769461019, rs768157788	8530621, 9211678, 9177373, 21521281, 8265607, 10566648, 24705274
Autism	Autistic Disorder	rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699, rs1553510219, rs1684182454, rs1559060428, rs1553510677, rs1576352885, rs1574152522, rs1574152672, rs1696658542	21359227
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243	19639193, 28112739, 11850205, 29701941, 23342035
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	23342035, 11850205, 28112739, 19639193, 29701941
Carcinoma	Carcinoma, Cribriform, Carcinoma, Granular Cell	rs121912654, rs555607708, rs786202962, rs1564055259	21472143
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Diabetes mellitus	Diabetes Mellitus, Non-Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs80356663, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs371977235, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261
Endometrial carcinoma	Endometrial Carcinoma	rs34612342, rs587776667, rs587776701, rs63750955, rs587776706, rs121434629, rs80359605, rs121913530, rs104894365, rs79184941, rs121913478, rs63750781, rs193922343, rs267608094, rs267608077, rs587779206, rs63750439, rs63751405, rs63750741, rs63750854, rs63750909, rs587779212, rs63749874, rs267608076, rs587779220, rs63750735, rs267608082, rs587779227, rs267608068, rs63750075, rs587779232, rs267608058, rs63751127, rs63750138, rs267608065, rs63751017, rs587779246, rs63750111, rs63750563, rs267608073, rs63751407, rs63749999, rs267608042, rs63750833, rs587779255, rs587779256, rs267608078, rs267608092, rs587779263, rs267608098, rs587779267, rs63750194, rs63751327, rs63751328, rs587779284, rs63749942, rs63751058, rs267608114, rs267608118, rs63751319, rs267608128, rs1553333594, rs267608126, rs63750767, rs267608120, rs267608121, rs267608122, rs63750342, rs63749873, rs587779318, rs63750019, rs63749980, rs267608048, rs1553412283, rs146816935, rs63750855, rs63751711, rs267607789, rs587779094, rs63750224, rs267607972, rs63750084, rs587779185, rs587778617, rs398123231, rs398123232, rs398123318, rs587780021, rs63750119, rs267608064, rs587781490, rs587781558, rs587781691, rs63749821, rs587782111, rs587782326, rs587782704, rs587779264, rs587779333, rs587782712, rs587783056, rs730881825, rs730881827, rs730881829, rs730881830, rs786202193, rs587782281, rs786202848, rs786201049, rs750528093, rs786202108, rs267608083, rs786201050, rs786203924, rs587781544, rs786201084, rs1553333738, rs863224829, rs863225398, rs863225409, rs863225412, rs864622041, rs869312769, rs869312770, rs63751077, rs876661205, rs876661025, rs63749919, rs876661073, rs876661222, rs267608041, rs878853702, rs751326348, rs866260675, rs886039666, rs886044911, rs1057517552, rs1057517764, rs1057517763, rs121909224, rs1057520605, rs1060502885, rs1060502918, rs1060502932, rs587779215, rs1060502937, rs1060502886, rs1060502875, rs1060502881, rs267607939, rs1023534466, rs1064793600, rs1064795256, rs1064795591, rs1064794055, rs1064794164, rs1553414010, rs1064793671, rs1064794302, rs1064793489, rs1064794384, rs1064793781, rs1553333500, rs760190301, rs1114167719, rs1114167776, rs1114167704, rs1114167748, rs1114167731, rs753796271, rs267608055, rs1114167746, rs1114167715, rs587782706, rs1114167750, rs1114167765, rs1114167747, rs786204048, rs1114167707, rs1114167767, rs1114167717, rs1114167783, rs1553412966, rs1553333598, rs587779297, rs1554294505, rs988423880, rs1554306353, rs1553408136, rs1553333321, rs1553408388, rs63749973, rs1553412064, rs1553412120, rs1553826166, rs1553413784, rs1553331242, rs1553414519, rs1564568660, rs1558392033, rs878853704, rs765763906, rs1558663559, rs1572720704, rs63750985, rs1572727440, rs587779253, rs1580538168, rs149350323, rs374133543, rs771721952, rs201033017, rs763478027, rs1475633334, rs1580553624, rs1580553669, rs578113271, rs757194485, rs539295465, rs778610412, rs758191157, rs1580597397, rs1580033751, rs751236312, rs376667075, rs1561486630, rs1561486632, rs777054839, rs1204002507, rs766672143, rs1580091499, rs1386063673, rs1450314617, rs1580027713, rs367544716, rs1488467945, rs1580053768, rs1580553607, rs1572720794, rs1572722039, rs1572723786, rs1572725235, rs1572728112, rs1175196087, rs1572741984, rs1580540688, rs1259647122, rs1580546793, rs1234762807, rs1580556516, rs1669245178, rs1669365820, rs756190979, rs371356175, rs766997264, rs1743353294, rs1379605717, rs770330684, rs1462955256, rs1744356274, rs1480047980, rs1744149615	30093612, 27135401
Esophagus neoplasm	Esophageal Neoplasms, Malignant neoplasm of esophagus	rs28934578, rs121918714, rs1567556006, rs1575166666	21472143
Hyperlipidemia	Hyperlipidemia	rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs1566946168, rs1064797075
Hypogonadotropic hypogonadism	Hypogonadotropic hypogonadism	rs104894702, rs104893836, rs104893837, rs104893842, rs121909628, rs138249161, rs1601946139	9177373
Marfan syndrome	Mammary Carcinoma, Human	rs137854456, rs137854457, rs267606796, rs137854458, rs137854459, rs137854460, rs137854470, rs137854471, rs267606797, rs137854461, rs137854462, rs137854463, rs869025419, rs137854464, rs137854465, rs137854466, rs137854467, rs387906547, rs387906548, rs137854469, rs137854473, rs1131692050, rs112989722, rs137854474, rs137854476, rs140593, rs1555395819, rs137854478, rs137854479, rs137854480, rs137854481, rs137854482, rs137854483, rs137854484, rs137854485, rs112289537, rs193922181, rs193922182, rs193922185, rs140603, rs193922187, rs193922188, rs193921256, rs112660651, rs193922193, rs193922194, rs193922197, rs193922198, rs193922199, rs193922203, rs193922204, rs193922205, rs193922206, rs111401431, rs193922207, rs113871094, rs111671429, rs193922216, rs193922219, rs193922220, rs193922223, rs193922224, rs193922225, rs193922226, rs193922227, rs193922228, rs193922230, rs193922235, rs147195031, rs193922236, rs193922239, rs193922240, rs193922241, rs193922246, rs397514558, rs398122934, rs397515753, rs397515754, rs397515755, rs397515756, rs397515757, rs113812345, rs397515758, rs397515759, rs397515762, rs25403, rs397515765, rs397515766, rs397515767, rs397515768, rs397515769, rs397515770, rs397515771, rs25404, rs397515773, rs397515774, rs397515775, rs397515776, rs397515778, rs397515779, rs397515781, rs112202622, rs397515782, rs397515784, rs397515785, rs397515786, rs397515788, rs397515789, rs397515790, rs397515791, rs397515792, rs397515793, rs397515794, rs397515797, rs397515798, rs397515799, rs397515801, rs397515802, rs397515803, rs397515804, rs397515805, rs397515808, rs397515810, rs397515811, rs397515812, rs111231312, rs267606798, rs397515814, rs113905529, rs397515816, rs397515817, rs397515818, rs397515819, rs397515820, rs363853, rs113249837, rs397515821, rs111929350, rs397515823, rs397515824, rs113086760, rs397515825, rs397515826, rs397515827, rs363807, rs397515828, rs397515829, rs397515830, rs397515831, rs397515833, rs111687884, rs113080385, rs397515834, rs397515836, rs113001196, rs397515840, rs397515845, rs397515846, rs397515847, rs397515848, rs397515851, rs397515852, rs397515853, rs397515854, rs111856492, rs397515859, rs397515861, rs397515863, rs397515864, rs397515865, rs397515866, rs397515867, rs137854855, rs199474693, rs587782944, rs587782947, rs587782948, rs672601352, rs876658120, rs727504651, rs727503054, rs727504315, rs727504411, rs727503057, rs727504454, rs200309328, rs363811, rs727504410, rs363821, rs727504347, rs727505006, rs727505110, rs730880356, rs727505269, rs727503058, rs727504421, rs730880107, rs730880104, rs730880103, rs730880102, rs730880101, rs730880106, rs730880100, rs730880105, rs730880099, rs112645512, rs730880108, rs730880098, rs730880097, rs794728321, rs794728283, rs794728280, rs794728336, rs794728272, rs794728160, rs794728271, rs794728270, rs794728319, rs794728262, rs794728251, rs76702162, rs794728335, rs794728334, rs794728246, rs763091520, rs794728333, rs794728237, rs761857514, rs794728234, rs140630, rs794728231, rs794728228, rs794728225, rs794728308, rs794728216, rs794728221, rs763449629, rs201058219, rs794728210, rs794728208, rs794728206, rs794728199, rs794728195, rs794728194, rs794728193, rs794728190, rs1555399381, rs794728176, rs1555399968, rs113422242, rs794728326, rs794728166, rs794728325, rs794728165, rs794728162, rs794728213, rs869025417, rs112642323, rs869025416, rs869025415, rs869025424, rs869025423, rs869025414, rs869025422, rs869025413, rs869025412, rs869025411, rs869025418, rs869025426, rs869025406, rs869025421, rs869025425, rs869025404, rs869025420, rs869025403, rs398122833, rs876657645, rs878853686, rs878853676, rs886038919, rs886038795, rs187553035, rs886038869, rs886038949, rs886038967, rs886038976, rs886038848, rs886038940, rs886038877, rs886039038, rs886038817, rs886038963, rs886039036, rs886038797, rs886039550, rs886041482, rs1057517855, rs1057518912, rs1057518973, rs1057519502, rs1057521100, rs1057521102, rs1057518881, rs1057520617, rs1057521101, rs1555394445, rs369058466, rs1060501069, rs1060501031, rs778966916, rs1060501043, rs1555397663, rs1060501017, rs1060501094, rs1060501065, rs1555393848, rs1555394151, rs1060501051, rs1060501013, rs1060501054, rs1060501048, rs1060501089, rs1060501039, rs1555398160, rs1060501022, rs1060501024, rs1060501086, rs1060501058, rs1060501036, rs1060501100, rs1060501042, rs1060501059, rs1555397743, rs1060501021, rs1060501027, rs1060501096, rs1060501038, rs1060501050, rs1064794130, rs112118237, rs1064793980, rs1064793118, rs1064793636, rs1064794282, rs1064793559, rs1085307921, rs1085308004, rs1085307468, rs112907302, rs1131691479, rs1131691373, rs1131691467, rs1131691938, rs1131691311, rs1131691806, rs1131691317, rs1555393827, rs363804, rs1555397738, rs1555399144, rs1555400274, rs1555394195, rs1555398836, rs113543334, rs1555399825, rs1555394626, rs1555395256, rs1555395257, rs1555396427, rs1555397548, rs1555398173, rs1555404803, rs1232880706, rs1555393825, rs1555394567, rs1555396998, rs1555394928, rs1555397203, rs112375043, rs1555397720, rs140599, rs1555399150, rs1555400373, rs1555405041, rs1555395229, rs1555397671, rs775417975, rs1555398774, rs1555399368, rs1555394904, rs1555395987, rs1555397424, rs1555398377, rs1555398835, rs1555401011, rs1555405043, rs1555394580, rs1555397404, rs1555398511, rs1555395826, rs1555399372, rs1555399821, rs1555399836, rs1555400063, rs363810, rs1555397655, rs1555395756, rs1555395742, rs1555393844, rs112550005, rs1555395002, rs1555395658, rs765387131, rs1555396429, rs1555396835, rs1555397014, rs1555397016, rs778710767, rs1555397557, rs1555397704, rs140648, rs1555398406, rs1555398681, rs1555399257, rs1555399361, rs1555399764, rs1555405056, rs1555393510, rs1555395980, rs1555396789, rs1555399094, rs1555399378, rs1555399816, rs1555395645, rs371097218, rs1555398278, rs1555394238, rs1555396418, rs1206813753, rs1555399271, rs1555405044, rs113544411, rs1555395663, rs1555397216, rs1555398989, rs1555399149, rs1555401670, rs1555395001, rs1445085747, rs1555393538, rs1555393565, rs1404133653, rs1555394450, rs1555394581, rs1555394633, rs1555394900, rs1555395189, rs1555395261, rs1052480459, rs1555395480, rs1555395670, rs363806, rs1555395820, rs1555396419, rs1555396765, rs1296209846, rs794728233, rs1555396853, rs1555396863, rs1555397197, rs1555397204, rs1555397212, rs1555397713, rs1555397736, rs1555398139, rs1555398144, rs1555398409, rs1555398510, rs1555398520, rs1555398524, rs1555398667, rs1555399089, rs1555399482, rs1555399763, rs1555401002, rs794728323, rs1555393508, rs1555393514, rs1555393525, rs1555393532, rs1555393653, rs1555393657, rs1555393824, rs1555393831, rs112196241, rs1555393847, rs1555393862, rs1555393863, rs1555393866, rs113935744, rs1555393882, rs1555393886, rs1555393889, rs1555394138, rs1555394144, rs1555394146, rs1555394148, rs1555394149, rs1555394152, rs1555394153, rs1555394189, rs1555394197, rs1555394206, rs1555394212, rs1555394218, rs1555394220, rs1555394235, rs1555394245, rs1555394246, rs1057520728, rs1555394390, rs1555394391, rs537570299, rs1555394397, rs1555394398, rs1555394399, rs1555394402, rs1555394407, rs1555394412, rs1555394435, rs1555394436, rs1555394441, rs1555394556, rs1555394557, rs1555394559, rs1555394561, rs1555394570, rs397515844, rs1555394571, rs1555394574, rs1555394579, rs1555394582, rs534811966, rs111588631, rs1555394628, rs1555394629, rs1555394630, rs1555394631, rs1555394641, rs1555394644, rs1555394647, rs1555394756, rs886051245, rs1555394775, rs1555394776, rs1555394777, rs1555394779, rs1555394780, rs1555394783, rs1555394901, rs1555394906, rs1555394925, rs794728253, rs886039158, rs1555395013, rs1555395187, rs1555395188, rs1555395203, rs1555395205, rs363815, rs1246984265, rs794728245, rs1555395263, rs1555395267, rs1555395456, rs1555395475, rs1555395482, rs1555395638, rs1555395641, rs1555395648, rs1555395653, rs1555395659, rs111239111, rs1555395745, rs1555395747, rs1555395753, rs1555395757, rs1555395766, rs1555395767, rs1555395843, rs1555395846, rs1555395849, rs1555395978, rs1555395981, rs1555395984, rs1555395989, rs1555395990, rs1260109901, rs1555396186, rs1555396188, rs1555396198, rs1555396199, rs1555396201, rs1555396202, rs1555396205, rs1555396213, rs1555396424, rs1555396426, rs1555396428, rs1555396435, rs1555396630, rs1555396635, rs1555396636, rs1555396639, rs1555396757, rs1555396769, rs1555396838, rs1555396844, rs140627, rs1555396858, rs1555396990, rs1555396991, rs1555396993, rs769588424, rs1555397022, rs1555397024, rs1555397160, rs1555397174, rs1555397176, rs1555397193, rs1555397209, rs1555397210, rs1555397214, rs1060501076, rs113082854, rs113693945, rs111978932, rs1555397403, rs1555397419, rs1555397420, rs1555397421, rs1555397536, rs1555397537, rs1555397540, rs1555397542, rs1555397543, rs1555397545, rs1555397546, rs1555397670, rs1555397692, rs1555397718, rs1555397723, rs1555397744, rs113393517, rs1555398148, rs1555398152, rs1555398174, rs1555398176, rs1555398179, rs1555398282, rs1555398287, rs1555398380, rs1555398394, rs1555398397, rs1555398401, rs1555398404, rs1555398407, rs1555398413, rs1555398501, rs1555398508, rs1555398512, rs1555398513, rs1555398515, rs1555398521, rs794728205, rs1555398527, rs1555398551, rs1060501075, rs1555398566, rs1555398572, rs1555398580, rs1555398582, rs140597, rs1555398622, rs1555398624, rs1555398625, rs112547596, rs1555398627, rs1555398633, rs1555398637, rs1555398642, rs778867355, rs1555398648, rs1555398659, rs1293095681, rs1060501040, rs987202268, rs1555398672, rs1555398673, rs1555398677, rs1555398793, rs1555398803, rs1555398811, rs1555398826, rs1555398833, rs1555398974, rs1555398981, rs778900586, rs1555398988, rs1555398994, rs1555398995, rs1555398996, rs1555399093, rs869025405, rs1555399101, rs1555399146, rs1555399160, rs1555399162, rs1555399164, rs1555399165, rs1555399193, rs1555399195, rs1555399202, rs1555399204, rs1555399206, rs201778577, rs1555399210, rs1555399214, rs1555399270, rs1555399273, rs1555399281, rs1555399371, rs1555399385, rs1555399477, rs1555399484, rs1555399761, rs1555399775, rs1555399802, rs1555399804, rs1555399837, rs1555399840, rs1555399940, rs1555399944, rs1555399949, rs1555399953, rs1555399954, rs1555399955, rs1555399959, rs1555399962, rs1555399963, rs1060501041, rs1555399974, rs1555399976, rs1555399977, rs1555400049, rs794728172, rs1555400062, rs1555400064, rs1555400066, rs1555400267, rs1555400268, rs1555400278, rs794728168, rs1555400279, rs1156747241, rs1555400288, rs1555400371, rs1555400372, rs1555400379, rs1555400385, rs587782943, rs1555400387, rs1555400406, rs1439533354, rs746201757, rs1555400595, rs1555400603, rs1555400604, rs1555400606, rs1555400609, rs752010116, rs1555400612, rs1555400616, rs1555401004, rs1555401005, rs146348130, rs1555401667, rs1555401671, rs1555401676, rs1555401679, rs1555401687, rs1555401689, rs1555401695, rs1555401697, rs1555401701, rs1555404799, rs1555404800, rs200295020, rs1555404810, rs1555404820, rs1555405031, rs1555405039, rs1555405045, rs1555405530, rs794728292, rs1555405533, rs1555405536, rs1555405537, rs111764111, rs1555405658, rs1555405664, rs774371494, rs1555405673, rs1555407399, rs1555407414, rs1555407423, rs1555407429, rs886041536, rs1555404806, rs1566911709, rs1566913974, rs1566894226, rs1566895223, rs1566897376, rs1566902526, rs1566915277, rs1566897374, rs1566897420, rs1566891655, rs1346043320, rs1566922396, rs1566891706, rs1566894783, rs1566913670, rs1555394196, rs1566891454, rs1566891406, rs1566891404, rs1566895262, rs1566891645, rs1566895225, rs1566896114, rs1566898399, rs1566904011, rs1566906537, rs1566908956, rs1566909766, rs1566919599, rs1566937712, rs1566915335, rs1566891675, rs1566904526, rs1566906506, rs1566900540, rs1566894230, rs1555395206, rs1566891797, rs1597512576, rs1597523873, rs1597581001, rs1597516325, rs1057524757, rs1597506641, rs1597520781, rs1597593695, rs1597529829, rs1597520625, rs1597579923, rs1597531796, rs1008275504, rs1597567249, rs1597569265, rs1597652471, rs1597516347, rs1597577114, rs1597633163, rs1597519658, rs1597593852, rs1597516501, rs1566913982, rs1555393859, rs1597513708, rs368978109, rs1480832655, rs1597520683, rs1597522390, rs1597522553, rs1597529748, rs1597533707, rs1597537815, rs1597545309, rs1597545836, rs1597563234, rs1597563280, rs1597564359, rs772108557, rs1597568968, rs1597574236, rs1597574308, rs1597577975, rs193922179, rs1597581005, rs1597593736, rs1597623670, rs1597625734, rs1597631662, rs113604459, rs1597633183, rs1597633219, rs1597518951, rs1555394781, rs1597525871, rs1597526073, rs1597569159, rs1597569536, rs1597563934, rs1597545199, rs1364210063, rs1597552583, rs1597520619, rs1597540854, rs1597591602, rs1597569551, rs1597548716, rs1597553721, rs112728248, rs1597537858, rs1597517935, rs1597540907, rs1597552388, rs1597591643, rs1597529841, rs1597506547, rs1597509836, rs1597529686, rs1566897404, rs1597533713, rs1597543486, rs1597545257, rs1597545345, rs1597548672, rs1597562812, rs1597563287, rs1597571391, rs1555400052, rs1597583989, rs363852, rs1597547226, rs363808, rs974604498, rs2043595650, rs2043526284, rs2042997306, rs1555397195, rs886039054, rs1555397213, rs2042873946	29701941, 28112739, 11850205, 23342035, 19639193
Obesity	Obesity	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829
Osteoporosis	Osteoporosis, Age-Related, Osteoporosis, Osteoporosis, Senile, Post-Traumatic Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287	20723554
Prostate cancer	Malignant neoplasm of prostate	rs121909139, rs121909140, rs121909141, rs121909142, rs121909143, rs606231169, rs606231170, rs137852584, rs137852578, rs137852580, rs137852581, rs137852582	16424004, 17704407

Unknown
Disease term	Disease name	Evidence	References	Source
Acanthosis nigricans	Acanthosis Nigricans			ClinVar
Ambiguous genitalia	Ambiguous genitalia, female			ClinVar
Aromatase excess syndrome	AROMATASE EXCESS SYNDROME, Aromatase excess syndrome		22319526, 24064691, 21470988	ClinVar
Cirrhosis	Cirrhosis		22028442	ClinVar
Endometriosis	Endometriosis		18815356, 21958689	ClinVar
Hypogonadism	Hypogonadism			GWAS
Endometrial Cancer	Endometrial Cancer			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Abortion Habitual	Associate	26345775, 30044146
Abortion Spontaneous	Associate	30044146
Acrocephalosyndactylia	Associate	21170323
Acth Independent Macronodular Adrenal Hyperplasia	Associate	31014964
Adenocarcinoma	Associate	11228047, 20467160
Adenocarcinoma of Lung	Associate	27526096, 36527059
Adenomyoma	Associate	22963808
Adenomyosis	Associate	14631363, 17135033, 23755957
Adenomyosis	Stimulate	20553220
Adrenal Gland Neoplasms	Associate	11228047, 19026713, 20467160
Adrenal Hyperplasia Congenital	Associate	30074481
Adrenocortical Carcinoma	Associate	19026713, 20467160, 26464060
Alopecia	Associate	26228318, 34155264, 35279334, 37645625
Alzheimer Disease	Associate	16882736, 20932310, 22057025, 23635391, 23736221, 27583919, 31175839
Amenorrhea	Associate	8265607
Androgen Insensitivity Syndrome	Associate	17852420, 8908530, 8980896
Angiomyolipoma	Associate	18374399
Antley Bixler Syndrome Phenotype	Associate	32994263
Aortic Aneurysm Abdominal	Associate	21119710
Aromatase deficiency	Inhibit	1371509
Aromatase deficiency	Associate	1496995, 23748068, 24064691, 27086564, 29553041, 30074481, 30920624, 30968679, 33108086, 35837780, 8265607
Arthralgia	Associate	21251330, 27747906
Arthritis Rheumatoid	Associate	10446859
Astrocytoma	Associate	33836687
Atherosclerosis	Associate	34128950, 35197230
Attention Deficit Disorder with Hyperactivity	Associate	22336992
Auditory Perceptual Disorders	Associate	28337664
Autistic Disorder	Inhibit	21359227
Bone Diseases	Associate	23643682, 26049585
Bone Diseases Metabolic	Associate	11092403, 26536870
Brain Injuries Traumatic	Associate	23540392
Breast Diseases	Associate	20682005
Breast Neoplasms	Associate	10027313, 10574257, 10731105, 11935306, 12153753, 12618873, 14580261, 15237001, 15642164, 15642171, 15831674, 16303757, 16760268, 16940470, 17004113, 17047076, 17219197, 1739127, 17562079, 17616393, 17661084, 18045633, 18072234, 18079323, 18087590, 18199708, 18381432, 18483177, 18550029, 18614591, 18703630, 18941892, 19064562, 19083124, 19166352, 19221050, 19282383, 19308726, 19439415, 19469636, 19589174, 19630952, 19638208, 19773750, 19931613, 19969081, 20048079, 20072949, 20144226, 20332278, 20534486, 20542113, 20617168, 20835647, 21112394, 21188569, 21231986, 21377485, 21393445, 21420422, 21622727, 21632460, 21658239, 21790896, 22149175, 22576212, 22722193, 22912703, 23041473, 23085504, 23099804, 23129173, 23216985, 23340254, 23518928, 23643682, 23704778, 23846226, 23958744, 24065098, 24119434, 24223121, 24324964, 24402127, 24413080, 24430361, 24496634, 24604139, 24629213, 25088806, 25450981, 25476497, 25689428, 25793413, 25935582, 25962693, 26049585, 26191232, 26345775, 26431176, 26464060, 27029552, 27102200, 27165202, 27228187, 27323034, 27421652, 27502118, 27747906, 27825388, 28112739, 28270386, 28323914, 28429243, 28443693, 29141657, 29189985, 29363090, 29563635, 29701941, 29790386, 29921733, 30409902, 30563991, 30920624, 31477036, 31511352, 31665365, 31757843, 32460723, 32539536, 32823947, 33017027, 33112819, 33902660, 34014013, 34187970, 35320351, 35657638, 36096872, 36418319, 36677847, 36989252, 37049472, 37253812, 37888299, 38122900, 38423186, 40632974, 7556673, 8248245, 8662988
Breast Neoplasms	Inhibit	18442419, 27323034, 32466779, 35776183, 40571311
Breast Neoplasms Male	Associate	10755395, 19632843, 23096432, 30850364
Calcinosis Cutis	Associate	31757843
Carcinogenesis	Associate	8248245
Carcinoma Ductal	Associate	20835647
Carcinoma Ductal Breast	Associate	14580261
Carcinoma Endometrioid	Associate	7856758
Carcinoma Hepatocellular	Stimulate	21319151
Carcinoma Hepatocellular	Associate	21319151, 23930207, 34147074
Carcinoma Intraductal Noninfiltrating	Associate	17661084, 20835647, 23756858, 28337664
Carcinoma Intraductal Noninfiltrating	Stimulate	18079323
Carcinoma Non Small Cell Lung	Associate	19273201, 21320735, 21511357, 25310221, 25450981, 37047797
Carcinoma Ovarian Epithelial	Stimulate	21614520
Carcinoma Squamous Cell	Associate	36527059
Cardiovascular Diseases	Associate	21170323, 26463708
Cell Transformation Neoplastic	Associate	34460330
Central Nervous System Infections	Associate	14584882
Cerebellar Ataxia and Hypogonadotropic Hypogonadism	Associate	17616393, 19931613, 29701941, 8620462
Cerebral Infarction	Associate	33705547
Chemical and Drug Induced Liver Injury	Associate	21319151
Chemical and Drug Induced Liver Injury	Stimulate	23930207
Cholangiocarcinoma	Associate	30284180, 34871464
Choriocarcinoma	Associate	16996190, 8132535
Colonic Neoplasms	Associate	21479914, 38143338
Colorectal Neoplasms	Associate	17615053, 21479914, 21627810, 25109722, 31724326, 37705049
Conduct Disorder	Associate	22336992
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	20655525
Coronary Artery Disease	Associate	16045239, 30193537, 35197230
Coronary Artery Disease	Inhibit	34128950
Coronary Disease	Associate	26562495
Coronary Disease	Inhibit	34128950
COVID 19	Associate	37572667
Cysts	Associate	24855493
Death	Associate	21170323
Death	Stimulate	27324053
Diabetes Mellitus	Associate	32960117
Diabetes Mellitus Type 2	Associate	32814585
Diabetic Retinopathy	Associate	32814585
Disease	Associate	19509570, 26453052
Disorders of Excessive Somnolence	Associate	12736278
Disorders of Sex Development	Associate	30968679
Down Syndrome	Associate	22057025
Drug Related Side Effects and Adverse Reactions	Associate	25935582, 27825388, 37888299
Dyslexia	Associate	40424442
Dyslipidemias	Associate	35511873
Embolism Fat	Associate	15229337
Endocrine System Diseases	Associate	12690088, 16996190, 24496634
Endometrial Hyperplasia	Associate	25374239
Endometrial Neoplasms	Associate	11216915, 14631363, 16730717, 17827443, 18437511, 19124504, 19493871, 19509570, 20053928, 22320986, 22633539, 23453006, 23873111, 26574572, 29182028, 34675350, 39401154, 40141105, 7856758, 8932332
Endometrial Neoplasms	Inhibit	19821643
Endometrial Stromal Tumors	Associate	26495759
Endometriosis	Associate	12620480, 16595205, 17336977, 17678915, 18048499, 18165439, 18335325, 18559914, 18930188, 19001523, 20430378, 20655525, 21958689, 23139742, 23809139, 24411031, 24805834, 24968701, 26242176, 26453052, 27167072, 27833918, 28002584, 28614857, 32416979, 32606145
Endometriosis	Stimulate	17454161, 18815356, 20553220, 21614520
Epilepsy Partial with Variable Foci	Associate	17135033
Esophageal Neoplasms	Associate	32487238
Essential Hypertension	Associate	18274619
Fibrocystic Breast Disease	Associate	19064562
Fibrolamellar hepatocellular carcinoma	Associate	32400000
Fractures Bone	Associate	15613678, 17118999, 19116238, 25148458, 26426292, 30855728
Genetic Diseases Inborn	Associate	1496995
Glioblastoma	Associate	28178667, 32240464, 34505421
Glioma	Associate	32240464
Glomerulonephritis IGA	Stimulate	31067541
Glomerulonephritis IGA	Associate	31067541
Granulosa Cell Tumor	Associate	21188138, 26166720, 33002342
Granulosa cell tumor of the ovary	Associate	21188138
Gynecomastia	Associate	12736278, 24037887
HAIR AN syndrome	Associate	36932437
Heart Diseases	Associate	27769104
Heart Failure Systolic	Stimulate	30193537
Hereditary Angioedema Type III	Associate	11228047, 18559914, 19079715, 20553220, 22057025, 26049585, 35837780
Hereditary Breast and Ovarian Cancer Syndrome	Associate	20835647, 31757843
Hereditary Breast and Ovarian Cancer Syndrome	Stimulate	28270386
Hip Fractures	Associate	26426292
Hirsutism	Associate	21676395, 30968679
Hot Flashes	Inhibit	19821643
Hot Flashes	Associate	27825388
Hyperandrogenism	Associate	19324338, 20015405, 29630096, 34155264
Hyperkinesis	Associate	22336992
Hyperparathyroidism 2	Associate	22963808
Hypertension	Associate	19218192, 21170323, 22104650, 32407592, 32960117
Hypertrophy	Associate	35511873
Hypogonadism	Stimulate	12736278
Hypogonadism	Associate	20467160, 26142101, 32499757
Hypospadias	Inhibit	32515122
Idiopathic Pulmonary Fibrosis	Associate	19064562
Infertility	Associate	17336977, 24968701, 27167072, 32960117
Inflammation	Stimulate	18703630, 22576212
Inflammation	Associate	21622727, 23041473, 26453052, 28270386, 32393308
Insulin Resistance	Associate	29325096, 30920624
Intestinal Diseases	Associate	26242176
Kidney Failure Chronic	Associate	14631363
Laron Syndrome	Associate	18614591, 22576212
Late Onset Disorders	Associate	39806744
Leiomyoma	Associate	17336977, 18182446, 19240151
Leprosy	Associate	26367014
Leydig Cell Tumor	Associate	22301800, 32455738
Liver Diseases	Associate	23930207
Liver Neoplasms	Associate	21319151
Lung Injury	Associate	37572667
Lung Neoplasms	Associate	19273201, 19995644, 21320735, 23669293, 36527059
Lymphatic Metastasis	Associate	21188569
Lymphatic Metastasis	Stimulate	29303414
Menopause Premature	Associate	21198743, 24855493, 26345775, 28323914
Menorrhagia	Inhibit	22963808
Mesothelioma	Associate	34404424
Mesothelioma Malignant	Associate	21289517, 34404424
Metabolic Diseases	Associate	26049585
Metabolic Syndrome	Associate	29873201
Migraine Disorders	Associate	22511967
Migraine with Aura	Associate	22511967
Muscular Dystrophy Duchenne	Associate	17002564
Musculoskeletal Diseases	Associate	23643682, 27825388, 35776183
Myocardial Infarction	Associate	21170323
Myoma	Associate	20164038, 21071347
Myopia	Associate	21921981
Nasopharyngeal Carcinoma	Associate	35633182
Neoplasm Metastasis	Associate	18519708, 29363090, 37047797, 37888299
Neoplasm Metastasis	Stimulate	29303414
Neoplasms	Associate	10731105, 11935306, 12734209, 14508827, 14631363, 16303757, 16730717, 16940470, 17219197, 17584489, 17616393, 18941892, 19221050, 19509570, 19531212, 19931613, 20048079, 20467160, 20534486, 20835647, 21188569, 21320735, 21377485, 21393445, 21479914, 21511357, 22301800, 22652558, 23340254, 23566437, 24068038, 25310221, 25616260, 26431176, 27324053, 27747906, 27869171, 27893427, 28057171, 29303414, 29363090, 29701941, 30284180, 32240464, 33650791, 36527059, 37068116, 8686761, 8932332
Neoplasms	Inhibit	18442419, 21087664, 23041473
Neoplasms	Stimulate	23930207, 29182028
Neoplasms Adipose Tissue	Stimulate	23099804
Neoplasms Adipose Tissue	Associate	28323914
Neoplasms Germ Cell and Embryonal	Associate	16372909
Neoplasms Hormone Dependent	Associate	28178667
NOG Related Symphalangism Spectrum Disorder	Associate	24649863
Obesity	Associate	12690088, 16418790, 19124504, 19221050, 20004389, 21198743, 21622727, 22106445, 22464085, 23041473, 23958744, 25476497, 28323914, 30409902, 30920624, 32499757, 34983051
Obesity	Stimulate	19347708, 21622727, 22576212, 28270386
Obesity	Inhibit	23099804
Obesity Abdominal	Associate	12690088
Opitz Kaveggia syndrome	Associate	34155264
Osteoarthritis	Inhibit	18512790
Osteoarthritis	Associate	20417295, 22170453
Osteoarthritis Hip	Associate	20417295
Osteoarthritis Knee	Associate	20417295
Osteoporosis	Associate	15613678, 16418790, 17002564, 17118999, 30855728
Osteoporosis Postmenopausal	Associate	37253812
Osteoporotic Fractures	Associate	15613678, 17118999, 18512790
Ovarian Cysts	Associate	32606145
Ovarian Diseases	Associate	16566930, 31878927
Ovarian Neoplasms	Associate	18667686, 26526982, 26576867, 27086564, 29157627, 29553041, 32590918, 33273524, 8686761
Overweight	Stimulate	21622727, 22576212
Overweight	Associate	24649863, 32393308
Pain	Associate	38002974
Personality Disorders	Associate	27513235
Peutz Jeghers Syndrome	Stimulate	24037887
Polycystic Ovary Syndrome	Associate	12215320, 19324338, 20015405, 23461365, 24649863, 25374239, 27187585, 28944702, 29050673, 29564739, 29630096, 31276164, 32651991, 32960117, 34001150, 34155264, 34233642, 34939397, 36932437, 39294274, 40065436, 8265607
Polyps	Associate	21150157
Pre Eclampsia	Associate	23667551
Primary Ovarian Insufficiency	Associate	20797716, 21269619, 31692519
Prodromal Symptoms	Associate	20144226, 25793413
Prolactinoma	Associate	31179796
Prostatic Hyperplasia	Associate	19921206, 29873201, 35672281, 39806744, 8844286
Prostatic Neoplasms	Associate	19789370, 21106711, 21771722, 22549291, 26214411, 27164191, 27513235, 27610593, 29228205, 33451122, 8620462, 8844286
Prostatic Neoplasms Castration Resistant	Associate	18519708, 21106711
Prostatitis	Associate	14508827
Prostatitis	Stimulate	17336977
Puberty Precocious	Associate	20713483
Rectal Neoplasms	Associate	21479914
Renal Insufficiency Chronic	Associate	28443693
Sarcoma Endometrial Stromal	Associate	14631363
Seminoma	Associate	16372909
Septate Uterus	Associate	26242176
Sertoli Cell Only Syndrome	Associate	27769104
Sertoli Cell Tumor	Associate	26166720
Sex Chromosome Disorders of Sex Development	Associate	8686761
Sexual Dysfunction Physiological	Associate	30968679
Sexual Infantilism	Associate	8265607
Sjogren's Syndrome	Associate	19298523
Spondylocostal dysostosis autosomal recessive	Associate	15613678
Spondylodysplasia And Premature Pubarche	Associate	12215320
Stomach Neoplasms	Associate	19015200, 23110082, 27893427, 31557413, 37784135
Stroke	Associate	21170323
Sweat Gland Diseases	Associate	27825388
Tertiary Lymphoid Structures	Associate	24324964
Testicular Neoplasms	Associate	17852420, 22301800
Thrombophilia	Associate	15237001
Thyroid Carcinoma Anaplastic	Associate	18958156
Triple Negative Breast Neoplasms	Associate	23643682, 26049585
Triple Negative Breast Neoplasms	Inhibit	36902090
Urinary Bladder Neoplasms	Associate	27324053, 29303414
Uterine Hemorrhage	Associate	18182446
Venous Thrombosis	Inhibit	19821643