Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	1585
Gene name	Cytochrome P450 family 11 subfamily B member 2
Gene symbol	CYP11B2
Synonyms (NCBI Gene)	ALDOSCPN2CYP11BCYP11BLCYPXIB2P-450C18P450C18P450aldo
Chromosome	8
Chromosome location	8q24.3
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

Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs28931609	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, missense variant
rs61757294	A>C,G	Benign, pathogenic	Coding sequence variant, missense variant
rs72554626	T>C	Pathogenic	Coding sequence variant, missense variant
rs72554627	A>G	Pathogenic	Coding sequence variant, missense variant
rs104894072	T>G	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs121912977	C>A	Pathogenic	Stop gained, coding sequence variant
rs121912978	G>A	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121912979	G>A	Pathogenic	Stop gained, coding sequence variant
rs759384300	G>A	Pathogenic	Coding sequence variant, stop gained
rs760329766	C>G,T	Pathogenic	Synonymous variant, coding sequence variant
rs761385416	C>T	Likely-pathogenic	Splice donor variant
rs771908700	->CC	Pathogenic	Frameshift variant, coding sequence variant
rs878852988	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant

108

Show/Hide all (108)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029873	hsa-miR-26b-5p	Microarray	19088304
MIRT053238	hsa-miR-24-3p	Luciferase reporter assayqRT-PCR	23836801
MIRT053238	hsa-miR-24-3p	Luciferase reporter assayqRT-PCR	23836801
MIRT053238	hsa-miR-24-3p	Luciferase reporter assayqRT-PCR	23836801
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	22291592
MIRT443535	hsa-miR-4780	PAR-CLIP	22291592
MIRT443536	hsa-miR-6780b-3p	PAR-CLIP	22291592
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	22291592
MIRT443534	hsa-miR-623	PAR-CLIP	22291592
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	22291592
MIRT442086	hsa-miR-4666b	PAR-CLIP	22291592
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	23708386
MIRT443535	hsa-miR-4780	PAR-CLIP	23708386
MIRT443536	hsa-miR-6780b-3p	PAR-CLIP	23708386
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	23708386
MIRT443534	hsa-miR-623	PAR-CLIP	23708386
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	23708386
MIRT442086	hsa-miR-4666b	PAR-CLIP	23708386
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	22100165
MIRT443535	hsa-miR-4780	PAR-CLIP	22100165
MIRT443536	hsa-miR-6780b-3p	PAR-CLIP	22100165
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	22100165
MIRT443534	hsa-miR-623	PAR-CLIP	22100165
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	22100165
MIRT442086	hsa-miR-4666b	PAR-CLIP	22100165
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	22100165
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	22100165
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	22100165
MIRT442086	hsa-miR-4666b	PAR-CLIP	22100165
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	22291592
MIRT443535	hsa-miR-4780	PAR-CLIP	22291592
MIRT443536	hsa-miR-6780b-3p	PAR-CLIP	22291592
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	22291592
MIRT443534	hsa-miR-623	PAR-CLIP	22291592
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	22291592
MIRT442086	hsa-miR-4666b	PAR-CLIP	22291592
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	23708386
MIRT443535	hsa-miR-4780	PAR-CLIP	23708386
MIRT443536	hsa-miR-6780b-3p	PAR-CLIP	23708386
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	23708386
MIRT443534	hsa-miR-623	PAR-CLIP	23708386
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	23708386
MIRT442086	hsa-miR-4666b	PAR-CLIP	23708386
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	22100165
MIRT443535	hsa-miR-4780	PAR-CLIP	22100165
MIRT443536	hsa-miR-6780b-3p	PAR-CLIP	22100165
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	22100165
MIRT443534	hsa-miR-623	PAR-CLIP	22100165
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	22100165
MIRT442086	hsa-miR-4666b	PAR-CLIP	22100165
MIRT442089	hsa-miR-3607-5p	PAR-CLIP	22100165
MIRT442088	hsa-miR-6841-3p	PAR-CLIP	22100165
MIRT442087	hsa-miR-5011-3p	PAR-CLIP	22100165
MIRT442086	hsa-miR-4666b	PAR-CLIP	22100165
MIRT920428	hsa-miR-1228	CLIP-seq
MIRT920429	hsa-miR-1253	CLIP-seq
MIRT920430	hsa-miR-1286	CLIP-seq
MIRT920431	hsa-miR-185	CLIP-seq
MIRT920432	hsa-miR-2113	CLIP-seq
MIRT920433	hsa-miR-2682	CLIP-seq
MIRT920434	hsa-miR-28-5p	CLIP-seq
MIRT920435	hsa-miR-3064-5p	CLIP-seq
MIRT920436	hsa-miR-3139	CLIP-seq
MIRT920437	hsa-miR-329	CLIP-seq
MIRT920438	hsa-miR-362-3p	CLIP-seq
MIRT920439	hsa-miR-3652	CLIP-seq
MIRT920440	hsa-miR-3672	CLIP-seq
MIRT920441	hsa-miR-3690	CLIP-seq
MIRT920442	hsa-miR-3921	CLIP-seq
MIRT920443	hsa-miR-3944-5p	CLIP-seq
MIRT920444	hsa-miR-4254	CLIP-seq
MIRT920445	hsa-miR-4306	CLIP-seq
MIRT920446	hsa-miR-4430	CLIP-seq
MIRT920447	hsa-miR-4475	CLIP-seq
MIRT920448	hsa-miR-4476	CLIP-seq
MIRT920449	hsa-miR-4487	CLIP-seq
MIRT920450	hsa-miR-449c	CLIP-seq
MIRT920451	hsa-miR-4505	CLIP-seq
MIRT920452	hsa-miR-4520a-3p	CLIP-seq
MIRT920453	hsa-miR-4638-3p	CLIP-seq
MIRT920454	hsa-miR-4644	CLIP-seq
MIRT920455	hsa-miR-4649-3p	CLIP-seq
MIRT920456	hsa-miR-4653-5p	CLIP-seq
MIRT920457	hsa-miR-4722-5p	CLIP-seq
MIRT920458	hsa-miR-4724-5p	CLIP-seq
MIRT920459	hsa-miR-4786-3p	CLIP-seq
MIRT920460	hsa-miR-606	CLIP-seq
MIRT920461	hsa-miR-671-5p	CLIP-seq
MIRT920462	hsa-miR-708	CLIP-seq
MIRT920463	hsa-miR-940	CLIP-seq
MIRT1972774	hsa-miR-3136-3p	CLIP-seq
MIRT1972775	hsa-miR-3200-5p	CLIP-seq
MIRT1972776	hsa-miR-328	CLIP-seq
MIRT1972777	hsa-miR-4682	CLIP-seq
MIRT2208430	hsa-miR-3664-3p	CLIP-seq
MIRT920441	hsa-miR-3690	CLIP-seq
MIRT920444	hsa-miR-4254	CLIP-seq
MIRT2208431	hsa-miR-4522	CLIP-seq
MIRT2208432	hsa-miR-4667-5p	CLIP-seq
MIRT2208433	hsa-miR-4700-5p	CLIP-seq
MIRT2208434	hsa-miR-4731-5p	CLIP-seq
MIRT2208435	hsa-miR-510	CLIP-seq
MIRT2208436	hsa-miR-873	CLIP-seq
MIRT920431	hsa-miR-185	CLIP-seq
MIRT2208430	hsa-miR-3664-3p	CLIP-seq
MIRT920445	hsa-miR-4306	CLIP-seq
MIRT920454	hsa-miR-4644	CLIP-seq
MIRT2208436	hsa-miR-873	CLIP-seq

Show/Hide all (5)

Transcription factor	Regulation	Reference
APEX1	Repression	22652909
ATF1	Unknown	11196473
ATF2	Unknown	11196473
CREB1	Unknown	11196473
NR5A1	Repression	21169726

Show/Hide all (47)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002017	Process	Regulation of blood volume by renal aldosterone	IMP	14614232
GO:0003091	Process	Renal water homeostasis	IC	2256920
GO:0004497	Function	Monooxygenase activity	IEA
GO:0004507	Function	Steroid 11-beta-monooxygenase activity	IBA
GO:0004507	Function	Steroid 11-beta-monooxygenase activity	IDA	1741400, 2256920, 23322723
GO:0004507	Function	Steroid 11-beta-monooxygenase activity	IEA
GO:0004507	Function	Steroid 11-beta-monooxygenase activity	TAS
GO:0005506	Function	Iron ion binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA	1741400, 2256920
GO:0005739	Component	Mitochondrion	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IC	2256920
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	TAS
GO:0006066	Process	Alcohol metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006700	Process	C21-steroid hormone biosynthetic process	IDA	2256920
GO:0006700	Process	C21-steroid hormone biosynthetic process	IEA
GO:0006704	Process	Glucocorticoid biosynthetic process	IBA
GO:0006705	Process	Mineralocorticoid biosynthetic process	TAS
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IBA
GO:0008395	Function	Steroid hydroxylase activity	TAS
GO:0016020	Component	Membrane	IEA
GO:0016125	Process	Sterol metabolic process	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	IC	2256920
GO:0020037	Function	Heme binding	IDA	23322723
GO:0020037	Function	Heme binding	IEA
GO:0032342	Process	Aldosterone biosynthetic process	IBA
GO:0032342	Process	Aldosterone biosynthetic process	IDA	1741400, 2256920, 23322723
GO:0032342	Process	Aldosterone biosynthetic process	IMP	19342457
GO:0032870	Process	Cellular response to hormone stimulus	IEP	19342457
GO:0034650	Process	Cortisol metabolic process	IBA
GO:0034651	Process	Cortisol biosynthetic process	IMP	9703385
GO:0034651	Process	Cortisol biosynthetic process	IMP	19342457
GO:0035865	Process	Cellular response to potassium ion	IEP	19342457
GO:0046872	Function	Metal ion binding	IEA
GO:0047783	Function	Corticosterone 18-monooxygenase activity	IBA
GO:0047783	Function	Corticosterone 18-monooxygenase activity	IEA
GO:0055075	Process	Potassium ion homeostasis	IMP	9838244
GO:0055078	Process	Sodium ion homeostasis	IMP	9838244
GO:0071375	Process	Cellular response to peptide hormone stimulus	IBA

MIM	HGNC	e!Ensembl
124080	2592	ENSG00000179142

P19099

Protein name

Cytochrome P450 11B2, mitochondrial (Aldosterone synthase) (ALDOS) (Aldosterone-synthesizing enzyme) (CYPXIB2) (Corticosterone 18-monooxygenase, CYP11B2) (EC 1.14.15.5) (Cytochrome P-450Aldo) (Cytochrome P-450C18) (Steroid 11-beta-hydroxylase, CYP11B2) (E

Protein function

A cytochrome P450 monooxygenase that catalyzes the biosynthesis of aldosterone, the main mineralocorticoid in the human body responsible for salt and water homeostasis, thus involved in blood pressure regulation, arterial hypertension, and the d

PDB

4DVQ , 4FDH , 4ZGX , 6XZ8 , 6XZ9 , 7M8I , 7M8V

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00067	p450	42 → 499	Cytochrome P450	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed sporadically in the zona glomerulosa (zG) of the adrenal cortex (conventional zonation), as well as in aldosterone-producing cell clusters (APCCs) composed of morphological zG cells in contact with the capsule (variegated zon

Sequence

MALRAKAEVCVAAPWLSLQRARALGTRAARAPRTVLPFEAMPQHPGNRWLRLLQIWREQG
YEHLHLEMHQTFQELGPIFRYNLGGPRMVCVMLPEDVEKLQQVDSLHPCRMILEPWVAYR
QHRGHKCGVFLLNGPEWRFNRLRLNPDVLSPKAVQRFLPMVDAVARDFSQALKKKVLQNA
RGSLTLDVQPSIFHYTIEASNLALFGERLGLVGHSPSSASLNFLHALEVMFKSTVQLMFM
PRSLSRWISPKVWKEHFEAWDCIFQYGDNCIQKIYQELAFNRPQHYTGIVAELLLKAELS
LEAIKANSMELTAGSVDTTAFPLLMTLFELARNPDVQQILRQESLAAAASISEHPQKATT
ELPLLRAALKETLRLYPVGLFLERVVSSDLVLQNYHIPAGTLVQVFLYSLGRNAALFPRP
ERYNPQRWLDIRGSGRNFHHVPFGFGMRQCLGRRLAEAEMLLLLHHVLKHFLVETLTQED
IKMVYSFILRPGTSPLLTFRAIN

Sequence length

503

Interactions

View interactions

	KEGG		Reactome
	Steroid hormone biosynthesis Metabolic pathways Aldosterone synthesis and secretion		Mineralocorticoid biosynthesis Glucocorticoid biosynthesis Endogenous sterols Defective CYP11B2 causes Corticosterone methyloxidase 1 deficiency (CMO-1 deficiency)

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)

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Corticosterone 18-monooxygenase deficiency	Likely pathogenic; Pathogenic	rs746842822, rs1817612031, rs1442525444, rs1351295710, rs1160313950, rs774041613, rs770593140, rs1396377821, rs746973873, rs1056722915, rs2488699111, rs2130336602, rs72554627, rs121912977, rs121912978 View all (7 more)	RCV005050508 RCV002506952 RCV002479578 RCV002267703 RCV005045184 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Corticosterone methyl oxidase type II deficiency	Likely pathogenic; Pathogenic	rs2130334875, rs765802331, rs1205192306, rs2488700399, rs121912977, rs121912978, rs771164401, rs539836429, rs774948236	RCV001826123 RCV001831395 RCV005614730 RCV005616738 RCV001271156 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Corticosterone methyloxidase type 2 deficiency	Likely pathogenic; Pathogenic	rs746842822, rs1817612031, rs1442525444, rs1160313950, rs774041613, rs770593140, rs1191402804, rs1396377821, rs746973873, rs1056722915, rs2488699111, rs121912977, rs121912978, rs72554626, rs121912979 View all (8 more)	RCV002250796 RCV002506952 RCV002479578 RCV005045184 RCV005045186 View all (18 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CYP11B2-related disorder	Pathogenic; Likely pathogenic	rs2130324802, rs762727830, rs1351295710, rs1160313950, rs781244906, rs771908700, rs1396377821, rs748967395, rs760329766, rs4538, rs2488698556, rs1817544823, rs772456092, rs376248857, rs1586573244, rs72554626 View all (1 more)	RCV003463016 RCV003464321 RCV003464423 RCV003459719 RCV003459926 View all (12 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial hypoaldosteronism	Likely pathogenic	rs759178574	RCV003331889	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (27)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
18-HYDROXYLASE DEFICIENCY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aldosterone to renin ratio, increased	association	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDER	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1H	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICOSTERONE METHYL OXIDASE TYPE I DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICOSTERONE METHYLOXIDASE TYPE 1 DEFICIENCY	—	GenCC	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICOSTERONE METHYLOXIDASE TYPE I DEFICIENCY	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CUSHING SYNDROME	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Early-onset familial hypoaldosteronism	Conflicting classifications of pathogenicity	ClinVar Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
FAMILIAL HYPERALDOSTERONISM TYPE 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERALDOSTERONISM TYPE I	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL HYPERRENINEMIC HYPOALDOSTERONISM TYPE 2	—	ClinGen, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Glucocorticoid-remediable aldosteronism	Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar CTD	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
HYPERALDOSTERONISM	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSIVE DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypoaldosteronism, congenital	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (155)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
11-Beta-hydroxylase deficiency	11-beta-hydroxylase deficiency	BEFREE	15324322, 26066897, 30242600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Acromegaly	Acromegaly	BEFREE	17003099		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Adenocarcinoma	BEFREE	17299068		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	10914997, 11572038, 12457455, 16118341, 20708777, 22650983, 23443813, 25599386, 26765578, 27165862, 28102204, 28405879, 28422753, 29069700, 30354720, 30654730, 31351131, 31446799 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	16332935, 26765578, 27754862, 27853054, 29279316, 30085035		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Gland Neoplasms	Adrenal neoplasia	BEFREE	11422106, 18284637, 21521926, 2256920		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	BEFREE	11443188		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal hyperplasia	Adrenal hyperplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	34616364, 40091330	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	22331379, 9322959		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	32791542, 35185794	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Aortic Valve Stenosis	Aortic Valve Sclerosis	BEFREE	11275936		★★★★★ ★☆☆☆☆ Found in Text Mining only
Aphakia congenital primary	Congenital primary aphakia	Pubtator	34534321	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	29202494		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	Pubtator	15055249, 23135028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	18638595, 19117407, 21846681, 23209837, 23936266, 24599807, 25354523, 30058705, 30529851		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	21846681, 23209837, 23936266, 25723521, 30058705	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	15240589, 20494601, 26936515, 31302112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	15240589, 20494601, 26936515, 31302112		★★★★★ ★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	15240589, 20494601, 26936515, 31302112		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bartter Syndrome	Bartter syndrome	Pubtator	24472523	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17436274	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Calcinosis	Calcinosis	Pubtator	28515448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomegaly	Cardiomegaly	Pubtator	25351194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	Pubtator	21546879	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated with Left Ventricular Noncompaction	Dilated cardiomyopathy	Pubtator	25890613	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Hypertrophic	Hypertrophic cardiomyopathy	Pubtator	17318792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	12031704		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	12161536, 30769265		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular disease	Pubtator	15055249, 25890613, 30561227, 32938270, 37827219, 38573093	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	LHGDN	18202594		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	GWASCAT_DG	30595370		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Artery Diseases	Carotid artery disease	Pubtator	20123934	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carotid Atherosclerosis	Carotid Atherosclerosis	BEFREE	20123934		★★★★★ ★☆☆☆☆ Found in Text Mining only
CCHS WITH HIRSCHSPRUNG DISEASE	Haddad syndrome	BEFREE	7903314		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	20176774, 23135028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Cerebral Infarction	BEFREE	23701507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral Small Vessel Diseases	Cerebral microangiopathy	Pubtator	23135028	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	20176774, 20598712, 21228735, 23135028, 23701507		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Disease	Chronic disease	Pubtator	23681285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic heart failure	Heart Failure	BEFREE	17631084		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic kidney disease stage 5	Kidney Disease	BEFREE	12832734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	16672053, 24907556, 25957425, 30695674		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Kidney Insufficiency	Renal Insufficiency	BEFREE	16672053		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	11443188, 11549691, 15134805		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency	Congenital adrenal hyperplasia	BEFREE	15324322, 26066897, 30242600		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital central hypoventilation syndrome	Congenital central hypoventilation syndrome	Pubtator	35685215, 38027139	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congestive heart failure	Congestive Heart Failure	BEFREE	11914098, 12031704, 12161536, 15134825, 16979018, 17631084, 18638595, 21193036, 23936266, 25014176, 27915044, 27979595, 28625318, 29312923		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Adenoma	Conn Adenoma	BEFREE	10323392, 10720580, 11675938, 15666793, 16715648, 20937967, 21248073, 22650983, 23012392, 23443813, 24472523, 25458695, 25906099, 26481629, 26597777 View all (14 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	BEFREE	10323392, 10720580, 10843166, 10914997, 11275950, 11422106, 11587161, 11675938, 12107246, 12608705, 15248825, 15579186, 16003173, 21521926, 21801737 View all (15 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conn Syndrome	Conn Syndrome	CTD_human_DG	11085685		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Arteriosclerosis	Coronary Arteriosclerosis	BEFREE	22307319, 22508051, 25966076, 26941570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	BEFREE	10701812, 15135254, 22297600, 22508051, 25966076, 26941570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26941570, 32938270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary heart disease	Coronary Heart Disease	BEFREE	10701812, 22508051, 25966076, 26941570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Restenosis	Coronary restenosis	Pubtator	12205735, 34065198	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Corticosterone Methyl Oxidase Type I Deficiency	Corticosterone Methyl Oxidase Deficiency	BEFREE	10559665		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticosterone Methyl Oxidase Type I Deficiency	Corticosterone Methyl Oxidase Deficiency	UNIPROT_DG	11238478, 9177280		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticosterone Methyl Oxidase Type I Deficiency	Corticosterone Methyl Oxidase Deficiency	GENOMICS_ENGLAND_DG	24022297		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticosterone Methyl Oxidase Type I Deficiency	Corticosterone Methyl Oxidase Deficiency	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticosterone Methyl Oxidase Type I Deficiency	Corticosterone Methyl Oxidase Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Corticosterone Methyl Oxidase Type II Deficiency	Corticosterone Methyl Oxidase Deficiency	BEFREE	10559665		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Corticosterone Methyl Oxidase Type II Deficiency	Corticosterone Methyl Oxidase Deficiency	UNIPROT_DG	12788848, 1346492, 1594605, 9625333, 9814506		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Corticosterone Methyl Oxidase Type II Deficiency	Corticosterone Methyl Oxidase Deficiency	GENOMICS_ENGLAND_DG	24022297		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Corticosterone Methyl Oxidase Type II Deficiency	Corticosterone Methyl Oxidase Deficiency	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cushing Syndrome	Cushing syndrome	Pubtator	12358151, 27165862	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cushing Syndrome	Cushing`s Syndrome	BEFREE	30769265		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes	Diabetes	BEFREE	24549414		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes mellitus	Pubtator	11687612, 12205735, 24549414, 25957425, 32857720	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus	Diabetes Mellitus	BEFREE	24549414, 25957425, 26941570, 27992114		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	24549414, 32857720, 38478114	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	20224556, 24549414		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Diabetic Nephropathies	Diabetic neuropathy	Pubtator	25957425	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetic Nephropathy	Diabetic Nephropathy	BEFREE	16714246, 16759311, 18771471, 27009287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dyslipidemias	Dyslipidemias	BEFREE	10577993		★★★★★ ★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	19151144		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	BEFREE	10024332, 10720580, 11128865, 12444540, 12544440, 12788845, 12817181, 14736447, 16126185, 16714246, 17143166, 17190732, 18192839, 19093739, 19407459 View all (24 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Essential Hypertension	Hypertension	Pubtator	11856349, 12611423, 14736447, 17190732, 19093739, 20966514, 21269059, 21846681, 24015270, 25890613, 26305278, 27149293, 27935319, 28078278, 28953657 View all (4 more)	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Hyperaldosteronism	Hyperaldosteronism	Pubtator	27793677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial hyperaldosteronism type I	Hyperaldosteronism	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial hypoaldosteronism	Hypoaldosteronism	ORPHANET_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial hypoaldosteronism	Hypoaldosteronism	Orphanet			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial Testotoxicosis	Testotoxicosis	BEFREE	29703198		★★★★★ ★☆☆☆☆ Found in Text Mining only
Focal glomerulosclerosis	Glomerulosclerosis	BEFREE	21777344, 23681285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis	Glomerulonephritis	Pubtator	23681285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis IGA	Iga nephropathy	Pubtator	21476902, 23681285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulonephritis Membranous	Membranous glomerulonephritis	Pubtator	23681285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glomerulosclerosis Focal Segmental	Focal segmental glomerulosclerosis	Pubtator	23681285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Glucocorticoid-remediable aldosteronism	Hyperaldosteronism	BEFREE	10843166, 11600544, 11740142, 12150724, 1303253, 14688810, 1472060, 16110193, 1731223, 18622235, 20808686, 21625068, 26066897, 31287546, 7567973 View all (6 more)		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Glucocorticoid-remediable aldosteronism	Hyperaldosteronism	ORPHANET_DG	20634641, 24817817		★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Growth Disorders	Growth disorder	Pubtator	32857717	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart failure	Heart Failure	BEFREE	12031704, 12161536, 16979018, 17631084, 18638595, 23936266, 27915044, 27979595		★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure	Heart failure	Pubtator	16979018, 18279468, 23936266	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure Diastolic	Heart failure	Pubtator	34569641	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Failure Systolic	Heart failure	Pubtator	31560448	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hepatitis C	Hepatitis c	Pubtator	33155189	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
High altitude pulmonary edema	High Altitude Pulmonary Edema	BEFREE	17987391, 22156739, 22508396		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	BEFREE	10323392, 10720582, 11791020, 12788845, 15134824, 17437517, 18638595, 18771471, 18848600, 21193036, 24248457, 24943299, 26481629, 28388725, 28566337, 8713673, 9888592 View all (2 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism	Hyperaldosteronism	CTD_human_DG	11085685		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism	Hyperaldosteronism	LHGDN	11903322		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism	Hyperaldosteronism	Pubtator	1518866, 2040591, 20808686, 21248073, 21546879, 22628608, 23102075, 23257735, 24082052, 24403568, 24472523, 24837548, 24842915, 24866132, 25102047 View all (39 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperaldosteronism	Hyperaldosteronism	Pubtator	26240369	Stimulate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hyperphosphatemia (disorder)	Hyperphosphatemia	BEFREE	28515448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	27514282, 28388725	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertension	Hypertension	Pubtator	11693765, 11728005, 11728946, 15055249, 15097233, 16979018, 19093739, 20176774, 20966514, 21476902, 22184340, 22419662, 23102075, 23135028, 24015270 View all (13 more)	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	BEFREE	10399886, 10720581, 11128865, 11275950, 11325068, 11595502, 11693765, 11725161, 11740142, 12107222, 12213905, 12444540, 12544440, 12627873, 12654713 View all (75 more)		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	LHGDN	12133420, 12213905, 12391843, 12544440, 14643573, 14736447, 15055249, 15097233, 15505931, 15545843, 15643128, 16126185, 16767667, 17190732, 17407071		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	GWASCAT_DG	30487518		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertensive disease	Hypertension	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	BEFREE	11113012, 14993121, 17318792, 24599807		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	LHGDN	12376254, 17318792		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy	Hypertrophy	Pubtator	14736447, 17318792	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertrophy Left Ventricular	Left ventricular disease	Pubtator	11693765, 30561227	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	BEFREE	10559665, 11422109, 14614232, 22465514, 22801770, 23018980, 9838244		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	CTD_human_DG	11238478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism	Hypoaldosteronism	Pubtator	32857717	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoaldosteronism, Hyporeninemic	Hypoaldosteronism	CTD_human_DG	11238478		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	22565077	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	18773126, 27940662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	LHGDN	12746403		★★★★★ ★☆☆☆☆ Found in Text Mining only
IGA Glomerulonephritis	Glomerulonephritis	BEFREE	21163122, 21476902, 23681285		★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	22419662	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	20176774, 20598712, 21228735, 23135028, 23748625, 23950878		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure	Kidney Failure	BEFREE	12832734, 15662219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure Chronic	Kidney failure	Pubtator	11422735, 24977181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Kidney Failure, Chronic	Kidney Failure	BEFREE	12832734		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	BEFREE	11113012, 11275936, 11693765, 25208931, 28692307, 30561227		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left Ventricular Hypertrophy	Left Ventricular Hypertrophy	LHGDN	12133420		★★★★★ ★☆☆☆☆ Found in Text Mining only
Left ventricular systolic dysfunction	Ventricular Systolic Dysfunction	BEFREE	25036270		★★★★★ ★☆☆☆☆ Found in Text Mining only
Liddle Syndrome	Liddle Syndrome	BEFREE	11128865, 7567973, 9146984		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of kidney	Kidney Cancer	BEFREE	12457455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	25735316		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28601126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	30974191	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	26936515		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	17261471, 20224556, 28915330		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	10577993, 10701812, 10720582		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocarditis	Myocarditis	BEFREE	30384979		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10800765, 11422106, 15292355, 1775135, 23443813, 24423307, 25958045, 26481629, 26765578, 26815163, 27165862, 28405879, 29069700, 30354756, 30739536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrosis Lipoid	Nephrotic syndrome	Pubtator	23681285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	39464190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculocerebrorenal Syndrome	Oculocerebrorenal syndrome	Pubtator	25102047	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Peritoneal Fibrosis	Peritoneal Fibrosis	BEFREE	28601126		★★★★★ ★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	Pubtator	39596027	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	25735316		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary Arterial Hypertension	Pulmonary arterial hypertension	Pubtator	11693765, 34796008	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary edema of mountaineers	Pulmonary edema	Pubtator	22156739, 26436397	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal carcinoma	Renal Carcinoma	BEFREE	12457455		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	BEFREE	12832734, 15662219		★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Tubular Acidosis, Type II	Renal Tubular Acidosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Secretory adrenocortical adenoma	Secretory adrenocortical adenoma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Stroke	Stroke	Pubtator	20176774, 23135028, 30695674, 32938270	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	7473536		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Fibrillation	Ventricular fibrillation	Pubtator	14736447	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

CYP11B2 (cytochrome P450 family 11 subfamily B member 2)