CYP21A2 (cytochrome P450 family 21 subfamily A member 2)

Gene

• Entrez ID: 1589
• Gene name: Cytochrome P450 family 21 subfamily A member 2
• Gene symbol: CYP21A2
• Synonyms (NCBI Gene): CA21H, CAH1, CPS1, CYP21, CYP21B, P450c21B
• Chromosome: 6
• Chromosome location: 6p21.33
• 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
rs6467	C>A,G,T	Pathogenic, not-provided, benign	Intron variant, 5 prime UTR variant
rs6471	G>A,C,T	Pathogenic	Coding sequence variant, missense variant
rs6475	T>A	Pathogenic	Coding sequence variant, missense variant
rs6476	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs7755898	C>T	Pathogenic	Stop gained, coding sequence variant
rs7769409	C>T	Pathogenic	Coding sequence variant, missense variant
rs9378251	C>T	Pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs12530380	T>A	Pathogenic	Missense variant, coding sequence variant
rs182942340	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs201552310	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs267606756	->T	Pathogenic	Coding sequence variant, frameshift variant
rs267606757	A>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs387906510	GAGACTAC>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs746097144	G>A,C	Pathogenic	5 prime UTR variant, missense variant, stop gained, coding sequence variant
rs770199817	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs786204728	TCGTGGAGAT>ACGAGGAGAA	Pathogenic	Missense variant, coding sequence variant
rs886038207	TC>-	Likely-pathogenic	5 prime UTR variant, frameshift variant, coding sequence variant
rs994764994	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057519068	TCCTGGAAGGGC>-	Pathogenic	Inframe deletion, coding sequence variant
rs1057519069	C>G,T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant, missense variant
rs1554299737	T>A	Pathogenic	Missense variant, coding sequence variant
rs1554304513	A>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant, intron variant
rs1554305880	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1582298980	->T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1582299448	->C	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1582300748	A>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, intron variant
rs1582302625	A>G	Pathogenic	5 prime UTR variant, splice acceptor variant
rs1582302950	G>-	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs1582304457	G>A	Pathogenic	Missense variant, coding sequence variant
rs1582304536	C>A	Pathogenic	Stop gained, coding sequence variant
rs1582305275	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1582307951	T>C,G	Likely-pathogenic	Missense variant, coding sequence variant
rs1582309414	GAG>-	Likely-pathogenic	Coding sequence variant, inframe deletion

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT016900	hsa-miR-335-5p	Microarray	18185580
MIRT921008	hsa-miR-4723-5p	CLIP-seq
MIRT921009	hsa-miR-4728-5p	CLIP-seq
MIRT2386652	hsa-miR-4681	CLIP-seq
MIRT921008	hsa-miR-4723-5p	CLIP-seq
MIRT921009	hsa-miR-4728-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004509	Function	Steroid 21-monooxygenase activity	IBA
GO:0004509	Function	Steroid 21-monooxygenase activity	IEA
GO:0004509	Function	Steroid 21-monooxygenase activity	TAS
GO:0005496	Function	Steroid binding	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005783	Component	Endoplasmic reticulum	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	IDA	25855791
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006704	Process	Glucocorticoid biosynthetic process	IBA
GO:0006704	Process	Glucocorticoid biosynthetic process	TAS
GO:0006705	Process	Mineralocorticoid biosynthetic process	IEA
GO:0006705	Process	Mineralocorticoid biosynthetic process	TAS
GO:0008202	Process	Steroid metabolic process	IMP	16984992
GO:0008289	Function	Lipid binding	IEA
GO:0008395	Function	Steroid hydroxylase activity	IMP	16984992
GO:0008395	Function	Steroid hydroxylase activity	TAS	1406709
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	TAS
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	IEA
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IDA	25855791
GO:0020037	Function	Heme binding	IEA
GO:0034651	Process	Cortisol biosynthetic process	IDA	25855791
GO:0046872	Function	Metal ion binding	IEA
GO:0103069	Function	17-hydroxyprogesterone 21-hydroxylase activity	IDA	25855791
GO:0103069	Function	17-hydroxyprogesterone 21-hydroxylase activity	IEA
GO:0106309	Function	Progesterone 21-hydroxylase activity	IDA	25855791
GO:0106309	Function	Progesterone 21-hydroxylase activity	IEA
GO:0106309	Function	Progesterone 21-hydroxylase activity	TAS

Other IDs

• MIM: 613815
• HGNC: 2600
• e!Ensembl: ENSG00000231852

Protein

• UniProt ID: P08686
• Protein name: Steroid 21-hydroxylase (EC 1.14.14.16) (21-OHase) (Cytochrome P-450c21) (Cytochrome P450 21) (Cytochrome P450 XXI) (Cytochrome P450-C21) (Cytochrome P450-C21B)
• Protein function: A cytochrome P450 monooxygenase that plays a major role in adrenal steroidogenesis. Catalyzes the hydroxylation at C-21 of progesterone and 17alpha-hydroxyprogesterone to respectively form 11-deoxycorticosterone and 11-deoxycortisol, intermediat
• PDB: 4Y8W, 5VBU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	27 → 480	Cytochrome P450	Domain

• Sequence:

  MLLLGLLLLPLLAGARLLWNWWKLRSLHLPPLAPGFLHLLQPDLPIYLLGLTQKFGPIYR
  LHLGLQDVVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVSKNYPDLSLGDYSLLWKAHK
  KLTRSALLLGIRDSMEPVVEQLTQEFCERMRAQPGTPVAIEEEFSLLTCSIICYLTFGDK
  IKDDNLMPAYYKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIEKRDHIVEMQ
  LRQHKESLVAGQWRDMMDYMLQGVAQPSMEEGSGQLLEGHVHMAAVDLLIGGTETTANTL
  SWAVVFLLHHPEIQQRLQEELDHELGPGASSSRVPYKDRARLPLLNATIAEVLRLRPVVP
  LALPHRTTRPSSISGYDIPEGTVIIPNLQGAHLDETVWERPHEFWPDRFLEPGKNSRALA
  FGCGARVCLGEPLARLELFVVLTRLLQAFTLLPSGDALPSLQPLPHCSVILKMQPFQVRL
  QPRGMGAHSPGQNQ

• Sequence length: 494

Pathways

KEGG:

Steroid hormone biosynthesis
Metabolic pathways
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome

Reactome:

Mineralocorticoid biosynthesis
Glucocorticoid biosynthesis
Endogenous sterols
Defective CYP21A2 causes Adrenal hyperplasia 3 (AH3)

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
Adenoma, cortisol-producing	Likely pathogenic; Pathogenic	rs6471	RCV000012935	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	Likely pathogenic; Pathogenic	rs1776123817, rs2151873259, rs2151874375, rs2151876633, rs200005406, rs2151875295, rs1397184823, rs2151871966, rs778895502, rs201552310, rs772900496, rs267606756, rs779144910, rs2151872060, rs1296268275, rs786204728, rs6475, rs6471, rs9378251, rs397509367, rs6445, rs387906510, rs1474566961, rs72552754, rs151344503, rs151344504, rs1582299448, rs1582302625, rs1378695952, rs72552757, rs1312672769, rs1313066818, rs1775988406, rs1554299737, rs72552743, rs1554304513, rs1554305880, rs1429901248, rs1370167869, rs776989258, rs1582298980, rs1582309414, rs1582300748, rs770199817, rs1582304457, rs1582304536, rs1582305275, rs182942340, rs1582307951, rs1367112998, rs1582312633, rs779791105, rs72552758, rs1246774295, rs1413433421, rs1776193326, rs1776234662, rs1776240589	RCV002283864 RCV001449916 RCV001449920 RCV001667853 RCV001667859 RCV001667861 RCV002034881 RCV002034882 RCV002034884 RCV004699630 RCV002211042 RCV002249853 RCV002250831 RCV002250931 RCV002283764 RCV000169566 RCV000012933 RCV000012934 RCV000012938 RCV000012940 RCV000012941 RCV000012943 RCV000012946 RCV000012950 RCV003318405 RCV000012953 RCV000012957 RCV000012958 RCV000012959 RCV000012960 RCV000012961 RCV003315170 RCV003315171 RCV003988664 RCV002250604 RCV004594931 RCV000517012 RCV000516282 RCV000517831 RCV005627393 RCV000826138 RCV000850239 RCV000850240 RCV000850241 RCV000055821 RCV000985129 RCV000984599 RCV000984600 RCV000984603 RCV000984610 RCV000984612 RCV000984611 RCV000984579 RCV000984580 RCV000984586 RCV002249597 RCV001293784 RCV004796403 RCV004800951 RCV004800950 RCV001293364	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Carcinoma, adrenocortical, androgen-secreting	Likely pathogenic; Pathogenic	rs6471	RCV000012936	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital adrenal hyperplasia	Likely pathogenic; Pathogenic	rs760216630, rs6475, rs6471, rs751456004, rs1333278223, rs1554299737, rs1554304513, rs200005406, rs776989258, rs1246774295, rs1330554738	RCV003230922 RCV003226157 RCV001804725 RCV003388357 RCV004690495 RCV002298553 RCV005901163 RCV005431899 RCV005407926 RCV001269258 RCV005432645	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital lipoid adrenal hyperplasia due to STAR deficency	Pathogenic	rs6445	RCV002288483	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
CYP21A2-related disorder	Pathogenic; Likely pathogenic	rs748290896, rs72552755, rs772900496, rs6471, rs397509367, rs6445, rs151344504, rs546660952, rs1351045983, rs1333278223, rs776989258, rs770199817	RCV004754769 RCV003978421 RCV003403724 RCV003407320 RCV003904830 RCV003924827 RCV003390673 RCV003419233 RCV003901722 RCV003901982 RCV003975283 RCV003972997	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency	Pathogenic	rs151344506	RCV000012963	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
21-HYDROXYLASE POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC 21-OHD CAH, SIMPLE VIRILIZING FORM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY	—	ClinVar, GenCC ClinVar, GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY, SALT WASTING FORM	—	Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet Disgenet, GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY, SIMPLE VIRILIZING FORM	—	GenCC, Orphanet GenCC, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ADRENAL HYPERPLASIA DUE TO 21 HYDROXYLASE DEFICIENCY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EHLERS-DANLOS SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MAJOR DEPRESSIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WET MACULAR DEGENERATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
11-Beta-hydroxylase deficiency	11-beta-hydroxylase deficiency	BEFREE	25911436		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	8405426, 9973524		★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	GWASDB_DG	19836008		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	9661649		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	LHGDN	18505908		★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	21190981		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	25970792, 9661649		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	BEFREE	16822826, 20059433, 2226916		★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	10207042, 10404805, 10521100, 10536001, 11073721, 12966197, 14502362, 1496017, 15027021, 15136096, 15858147, 1644925, 17275379, 18048990, 19272182, 19449670, 19624807, 1984191, 1985465, 19921645, 20059433, 20587039, 20926536, 21264314, 21274396, 21444649, 21646284, 21843885, 22017335, 22156666, 2226916, 2277381, 22886582, 2303461, 23166432, 23284009, 23337727, 23570880, 24071710, 24312389, 24476073, 24606108, 24667412, 25210767, 25319875, 25630015, 2565078, 26075496, 26206692, 26291314, 27297501, 27376426, 28401898, 28539365, 28639595, 2913051, 29229831, 29715434, 2983330, 29996815, 30178749, 3018042, 30419250, 30465166, 30700462, 30739087, 30816000, 31217034, 31447379, 31666125, 32442933, 3267225, 32824094, 33168061, 33332743, 33389921, 34748434, 34821488, 3487654, 3487786, 3500473, 35008721, 35079965, 35114771, 35255871, 35882282, 36264454, 36454796, 36545328, 36833192, 36992809, 37008950, 37157918, 37324257, 37324261, 37347111, 38016434, 40149462, 40307628, 40724898, 7479886, 8733045, 9099896, 9132494, 9497336, 9863599	Associate	★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	24077358	Associate	★☆☆☆☆ Found in Text Mining only
Adrenogenital Syndrome	Adrenogenital Syndrome	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Adrenogenital Syndrome	Adrenogenital Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenoleukodystrophy	Adrenoleukodystrophy	BEFREE	9745420		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASCAT_DG	20385819, 20385826, 20861866, 21665990, 22694956, 23455636, 23577725, 26691988, 29346644		★☆☆☆☆ Found in Text Mining only
Age related macular degeneration	Age-related macular degeneration	GWASDB_DG	20385819, 20385826, 20861866, 21665990, 21909106, 22694956, 22705344, 23455636, 23577725		★☆☆☆☆ Found in Text Mining only
alpha 1-Antitrypsin Deficiency	Alpha 1-Antitrypsin Deficiency	BEFREE	31028847		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	40307628	Associate	★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	BEFREE	11216381, 1427638		★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	GWASCAT_DG	30552173		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	40307628	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autistic Disorder	Autism	BEFREE	18179706		★☆☆☆☆ Found in Text Mining only
Autistic Disorder	Autism	Pubtator	18179706	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	2551816, 31438577, 9973524		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune disease	Pubtator	3018042	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune thyroiditis	Autoimmune Thyroiditis	GWASCAT_DG	25936594		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	GWASCAT_DG	28604730		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	25210767	Associate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	Pubtator	34748434	Associate	★☆☆☆☆ Found in Text Mining only
Central Precocious Puberty	Central Precocious Puberty	BEFREE	9666866		★☆☆☆☆ Found in Text Mining only
CHARGE Syndrome	Charge syndrome	Pubtator	31060112	Associate	★☆☆☆☆ Found in Text Mining only
Child Development Disorders, Pervasive	Development Disorder	GWASCAT_DG	28540026		★☆☆☆☆ Found in Text Mining only
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	Congenital adrenal hyperplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	Congenital adrenal hyperplasia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Comedonal acne	Comedonal acne	BEFREE	20110635		★☆☆☆☆ Found in Text Mining only
COMPLEMENT COMPONENT 2 DEFICIENCY	Complement Component Deficiency	CLINVAR_DG	1577763		★☆☆☆☆ Found in Text Mining only
COMPLEMENT FACTOR B DEFICIENCY	Complement Component Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	10084579, 10196702, 10198222, 10222348, 10229037, 10338093, 10364682, 10381826, 10408786, 10447270, 10471376, 10602386, 10690861, 10798363, 10830908, 10895040, 10971093, 10993720, 11012565, 11216381, 11232002, 11359457, 11397897, 11571713, 11581476, 11598371, 11919101, 11964027, 12028996, 12174671, 12376740, 12414881, 12510987, 12608938, 12788880, 12855227, 12887291, 1306840, 1361434, 1362564, 1427638, 14502362, 14715874, 14730433, 1473541, 1496017, 15081125, 15126570, 15134805, 15608154, 15623806, 1562557, 15639189, 15684714, 15751603, 15775714, 15994751, 16046588, 1605859, 16319697, 16427797, 16728546, 16788163, 16822826, 16915000, 16984992, 17119906, 17164306, 17573904, 18028896, 18039588, 18445671, 18655527, 18825878, 1905948, 19170707, 19201236, 19263525, 19347184, 1937474, 19449670, 19499972, 19501079, 19531083, 19567521, 19624807, 19773403, 19778530, 1978247, 1978631, 1979956, 1985465, 19856253, 19925038, 19930153, 19931309, 19944288, 20059433, 20423741, 20466782, 20661889, 20838032, 20951518, 20970527, 21148302, 21175091, 21198393, 21274396, 21324303, 21521936, 21570420, 21609351, 21750395, 21762683, 22014889, 22017335, 22156666, 22262854, 2226916, 2233746, 22639328, 22886582, 22985688, 2303461, 23073904, 23269230, 23284009, 23313747, 23322511, 23359706, 23370425, 23600966, 23907417, 24071710, 24452876, 24476073, 24606108, 2475127, 24799024, 24953648, 25025300, 25319875, 25501839, 2551816, 25630015, 26075496, 26206692, 26233337, 26278268, 26291314, 26336836, 26804566, 27180336, 27185867, 27297501, 27378492, 27432820, 27709802, 27890570, 28401898, 28521877, 28639595, 28640966, 28819757, 2896160, 2913051, 29266270, 29450859, 29684512, 29734195, 2983330, 29996815, 30048636, 3018042, 3038528, 30419250, 30465166, 30611409, 30620712, 30816000, 30838541, 30982438, 30995443, 31028847, 31217034, 31229653, 31317337, 31446012, 31571129, 31586465, 31708872, 3267225, 3487654, 3490178, 3497399, 6306039, 6334310, 7677150, 7749410, 7925109, 8034294, 8081391, 8175971, 8319374, 8365724, 8525475, 8698338, 8733045, 8968761, 9099896, 9132494, 9178317, 9364343, 9497336, 9579234, 9694253, 9745454, 9799085, 9836705, 9863599, 9888552		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	LHGDN	12384784, 12855227, 14676460, 15004406, 15572419, 16984992, 17033937, 17551464, 18445671, 18787377, 19062540		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	CTD_human_DG	16705555, 18445671		★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	CLINVAR_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	HPO_DG			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	25911436		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	UNIPROT_DG	10051010, 10094562, 10198222, 10364682, 10391209, 10408778, 10408786, 10443693, 10496074, 10720040, 11232002, 11598371, 11600539, 11746135, 12213891, 12222711, 12788866, 12887291, 12915679, 1406699, 1406709, 14676460, 14715874, 1496017, 15110320, 15126570, 16046588, 1644925, 16984992, 18319307, 18381579, 18445671, 1864962, 1937474, 20080860, 2072928, 21169732, 22014889, 2303461, 27721825, 3038528, 3257825, 3260007, 3267225, 3497399, 3871526, 7749410, 8478006, 8485582, 8989258, 9067760, 9187661, 9497336, 9580109		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	Pubtator	10051010, 10404805, 10724358, 11004722, 11073721, 12966197, 1472941, 1496017, 1644925, 17275379, 18048990, 18323673, 18397975, 18478071, 18719294, 18957504, 1924294, 1971153, 1984191, 1985465, 20059433, 20587039, 20926536, 21196707, 21264314, 22017335, 22156666, 22886582, 2315306, 23359698, 23570880, 24077358, 24667412, 25319875, 26848581, 27376426, 2788573, 27966633, 28415939, 28669219, 29328376, 29996815, 30419250, 30700462, 30739087, 30968594, 31060112, 31447379, 31666125, 3260033, 3263505, 3267225, 32959514, 33168061, 33389921, 33666875, 35255871, 35289513, 35882282, 36264454, 36316845, 36866166, 36992809, 37157918, 37324261, 37895316, 39468716, 40149462, 40552539, 8227333, 8530065, 9099896, 9790262, 9863599, 9881898	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	10094562, 10196702, 10229037, 10338093, 10427156, 10447270, 10830908, 11073721, 11117678, 11134109, 11359457, 11598371, 11739005, 11739456, 11836321, 11919101, 12050231, 12213672, 12213891, 12222711, 12915679, 1346350, 14671153, 14671187, 14730433, 15305351, 15483094, 15492485, 1551657, 15608154, 15639189, 15670187, 15751603, 15775714, 15943551, 16028060, 16046588, 16427797, 1644925, 16487445, 16636976, 1677925, 17119906, 17573904, 17634211, 17666484, 17992539, 18028896, 18039588, 18204270, 18319307, 18397975, 18445671, 18478071, 18589890, 18655527, 18702679, 18825878, 18957504, 18973462, 18996819, 19039234, 19085698, 19169499, 19170707, 19201236, 19499972, 1971153, 1984191, 20080860, 20205117, 2072928, 20818501, 20970527, 21164261, 21324303, 2152933, 21532487, 21570420, 21609351, 21762683, 21912141, 22156666, 22802425, 22841790, 22886582, 22978668, 23027774, 23073904, 23142378, 2325662, 24071710, 24081139, 24452876, 24799024, 25319875, 26126207, 26184415, 26291314, 26336836, 27041116, 27378492, 2788080, 2788081, 2788573, 28165447, 28521877, 28644547, 28774496, 28938470, 29328376, 29450859, 29996815, 30419250, 30611409, 30700462, 30855422, 30995443, 31229653, 31447379, 31529070, 31586465, 3260007, 6288753, 6449518, 8365724, 8485582, 8525475, 8968761, 9098443, 9099839, 9290628, 9545098, 9661649, 9836705		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	CLINVAR_DG	10496074, 10931088, 12788880, 14513879, 14715874, 15126570, 15623806, 16427797, 1644925, 16483186, 17119906, 1864962, 19263525, 19750867, 20661889, 2072928, 20838032, 20926536, 21098686, 21134444, 21228398, 21609351, 22262854, 22270556, 22313422, 2249999, 2303461, 23142378, 23359698, 23359706, 23769969, 24077358, 24667412, 24671123, 24953648, 25041270, 25121463, 25227725, 25481255, 25538881, 26184415, 2845408, 3257825, 3267225, 8081391, 9215318		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	Pubtator	2101789, 3498630, 3500473	Inhibit	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	GENOMICS_ENGLAND_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency	Congenital adrenal hyperplasia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome	Pubtator	10724358, 18048990, 21274396, 22156666, 22886582, 24071710, 25736066, 28415939, 29328376, 30113485, 31060112, 32442933, 32959514, 35882282, 36316845, 36866166, 37324261, 39468716, 40552539	Associate	★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	21801737		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	28714975, 29212778, 30104761		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary heart disease	Coronary Heart Disease	GWASDB_DG	21971053		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	31060112	Associate	★☆☆☆☆ Found in Text Mining only
Cutaneous Melanoma	Melanoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Insipidus Nephrogenic	Nephrogenic diabetes insipidus	Pubtator	29996815	Associate	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	GWASCAT_DG	31451708		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASDB_DG	17632545		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	25936594		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	GWASCAT_DG	29358691		★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	40149462	Associate	★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Pituitary dwarfism	Pubtator	29412390	Associate	★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos Syndrome	Ehlers-Danlos Syndrome	BEFREE	19921645, 23284009, 27297501, 29734195		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ehlers-Danlos syndrome caused by tenascin-X deficiency	Ehlers-Danlos Syndrome	BEFREE	19921645		★☆☆☆☆ Found in Text Mining only
Ehlers-Danlos syndrome, type 3 (disorder)	Ehlers-Danlos Syndrome	BEFREE	19921645, 27297501		★☆☆☆☆ Found in Text Mining only
Endometrial adenocarcinoma	Endometrial Adenocarcinoma	BEFREE	31783195		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	GWASCAT_DG	28881265		★☆☆☆☆ Found in Text Mining only
Exudative age-related macular degeneration	Exudative Macular Degeneration	GWASCAT_DG	22705344, 25629512, 26691988		★☆☆☆☆ Found in Text Mining only
exudative macular degeneration	Exudative macular degeneration	GWASCAT_DG	22705344, 25629512, 26691988		★☆☆☆☆ Found in Text Mining only
Familial paroxysmal dystonia	Paroxysmal dystonia	Pubtator	2315306	Associate	★☆☆☆☆ Found in Text Mining only
Frontal fibrosing alopecia	Frontal Fibrosing Alopecia	BEFREE	30656636		★☆☆☆☆ Found in Text Mining only
Geographic Atrophy	Geographic Atrophy	GWASCAT_DG	22705344, 26691988		★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	28359061		★☆☆☆☆ Found in Text Mining only
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	1306840		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves Disease	GWASDB_DG	21900946		★☆☆☆☆ Found in Text Mining only
Graves Disease	Graves disease	Pubtator	36316845	Associate	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	38016434	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Hemochromatosis	Pubtator	29412390	Associate	★☆☆☆☆ Found in Text Mining only
Hydrops Fetalis, Non-Immune	Hydrops Fetalis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	30580688	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	10521100, 11117678, 12050257, 16028060, 16712666, 19085698, 19189689, 20059433, 31447379, 31805392, 9024240		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	10521100, 11287026, 20059433, 25736066, 26848581, 31447379, 35289513	Associate	★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	LHGDN	12050257		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency	Hyperandrogenism	GENOMICS_ENGLAND_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypertension	Hypertension	Pubtator	32977860, 32994263	Associate	★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	20617557		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertrichosis	HYPERTRICHOSIS	BEFREE	15126570		★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	BEFREE	26848581		★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	BEFREE	11919101, 24476073, 8478006		★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	Pubtator	31447379	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	Pubtator	18719294	Associate	★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	40724898	Associate	★☆☆☆☆ Found in Text Mining only
Hypotrichosis	Hypotrichosis	Pubtator	2351933	Associate	★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	8105396		★☆☆☆☆ Found in Text Mining only
Immunoglobulin A deficiency (disorder)	Immunoglobulin A deficiency	BEFREE	2573059		★☆☆☆☆ Found in Text Mining only
Infertility	Infertility	Pubtator	21843885, 31217034	Associate	★☆☆☆☆ Found in Text Mining only
Late onset congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	18362511, 25481255, 28669219		★☆☆☆☆ Found in Text Mining only
Late onset congenital adrenal hyperplasia	Congenital adrenal hyperplasia	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Lipomucopolysaccharidosis	Lipomucopolysaccharidosis	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	GWASDB_DG	23242368		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASDB_DG	18204446, 24871463		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	1973860, 8095158		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	GWASCAT_DG	24871463, 26502338		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	39468716	Associate	★☆☆☆☆ Found in Text Mining only
Major Depressive Disorder	Mental Depression	GWASCAT_DG	29662059, 30626913		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	GWASDB_DG	18978787, 22899653		★☆☆☆☆ Found in Text Mining only
Maternal hypertension	Maternal hypertension	BEFREE	20617557		★☆☆☆☆ Found in Text Mining only
Membranous glomerulonephritis	Membranous Glomerulonephritis	GWASCAT_DG	21323541		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	22262854		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	19844122		★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	CLINVAR_DG	10857554, 12930931, 15964450, 23359698, 23692712, 24778650, 24904866, 25041270, 9521938		★☆☆☆☆ Found in Text Mining only
Multiple congenital anomalies	Multiple Congenital Anomalies	CLINVAR_DG	10857554, 12930931, 15964450, 23359698, 23692712, 24778650, 24904866, 25041270, 9521938		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	GWASDB_DG	17660530, 20598377		★☆☆☆☆ Found in Text Mining only
Myasthenia Gravis	Myasthenia Gravis	GWASDB_DG	23055271		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10435060, 25970792, 9661649		★☆☆☆☆ Found in Text Mining only
Nevus comedonicus	Nevus comedonicus	BEFREE	26848581		★☆☆☆☆ Found in Text Mining only
NON RARE IN EUROPE: Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	Non-Classic Congenital Adrenal Hyperplasia	Orphanet			★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	GWASDB_DG	22541561		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	12215320		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	12215320	Associate	★☆☆☆☆ Found in Text Mining only
Oral Ulcer	Oral Ulcer	GWASCAT_DG	30837455		★☆☆☆☆ Found in Text Mining only
Ornithine carbamoyltransferase deficiency	Ornithine Carbamoyltransferase Deficiency	BEFREE	11388595		★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	10521100	Associate	★☆☆☆☆ Found in Text Mining only
Pemphigus Vulgaris	Pemphigus Vulgaris	GWASDB_DG	22437316		★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	39649955	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	11117678, 15705377, 18362511, 20201644, 23386413, 24002412, 29074860, 3058471		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	15705377		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	15705377, 27376426, 29074860, 34233642, 35255871, 37324257	Associate	★☆☆☆☆ Found in Text Mining only
Postmenopausal frontal fibrosing alopecia	Frontal fibrosing alopecia	BEFREE	30656636		★☆☆☆☆ Found in Text Mining only
Precocious pubarche	Precocious Pubarche	BEFREE	11287026, 11964027, 12370110, 20059433, 21646284, 23329749		★☆☆☆☆ Found in Text Mining only
Precocious Puberty	Precocious puberty	BEFREE	11022183, 27180336, 9666866		★☆☆☆☆ Found in Text Mining only
Premature adrenarche	Premature adrenarche	BEFREE	10323382, 25481255, 9441866		★☆☆☆☆ Found in Text Mining only
Primary biliary cirrhosis	Biliary Cirrhosis	GWASCAT_DG	30854688		★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	17804836, 19503088, 21156761		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	GWASDB_DG	22952805		★☆☆☆☆ Found in Text Mining only
Sarcoidosis	Sarcoidosis	GWASCAT_DG	26651848		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	28540026, 30285260, 30626913		★☆☆☆☆ Found in Text Mining only
Sialidase deficiency	Sialidase Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of skin	Skin carcinoma	CLINVAR_DG	26619011		★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	GWASDB_DG	20383147		★☆☆☆☆ Found in Text Mining only
Takayasu Arteritis	Takayasu Arteritis	GWASCAT_DG	25604533		★☆☆☆☆ Found in Text Mining only
Thyroiditis Autoimmune	Thyroiditis	Pubtator	36316845, 37197658	Associate	★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	20205117		★☆☆☆☆ Found in Text Mining only
TRICHOHEPATOENTERIC SYNDROME 2	Trichohepatoenteric Syndrome	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Trifunctional protein deficiency	Pubtator	2226916, 28669219	Associate	★☆☆☆☆ Found in Text Mining only
Tumors of Adrenal Cortex	Tumors Of Adrenal Cortex	BEFREE	12213672		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	1306840		★☆☆☆☆ Found in Text Mining only
Type I Mucolipidosis	Mucolipidosis	CLINVAR_DG	10767332, 16712870, 24808020		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASDB_DG	24837172		★☆☆☆☆ Found in Text Mining only
Ulcerative Colitis	Ulcerative colitis	GWASCAT_DG	24837172		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASCAT_DG	20526339		★☆☆☆☆ Found in Text Mining only
Vitiligo	Vitiligo	GWASDB_DG	20526339		★☆☆☆☆ Found in Text Mining only