CYP11A1 (cytochrome P450 family 11 subfamily A member 1)

Download as csv Download as pdf

Log in to bookmark this gene

Bookmark This Gene

Title Project / Tag (optional) Note (optional)

Cancel Save

On this page

Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases Related genes Diseases linked via similar genes

Gene

• Entrez ID: 1583
• Gene name: Cytochrome P450 family 11 subfamily A member 1
• Gene symbol: CYP11A1
• Synonyms (NCBI Gene): CYP11A, CYPXIA1, P450SCC
• Chromosome: 15
• Chromosome location: 15q24.1
• 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 Show/Hide all (13)

SNP ID	Visualize variation	Clinical significance	Consequence
rs6161	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs72547508	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912811	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912812	G>A	Pathogenic	Missense variant, coding sequence variant
rs121912813	A>C	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs121912814	A>T	Pathogenic	Missense variant, coding sequence variant
rs143655263	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs387906601	A>G	Pathogenic	Coding sequence variant, missense variant
rs757299093	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs776056840	G>A	Pathogenic	5 prime UTR variant, coding sequence variant, stop gained
rs886041121	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs886041759	C>T	Pathogenic	Splice donor variant
rs1567053134	AG>-	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, frameshift variant

miRNA Show/Hide all (84)

miRTarBase ID	miRNA	Experiments	Reference
MIRT483692	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT483691	hsa-miR-3677-5p	PAR-CLIP	23592263
MIRT483690	hsa-miR-6890-5p	PAR-CLIP	23592263
MIRT483689	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT483688	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT483687	hsa-miR-4651	PAR-CLIP	23592263
MIRT483686	hsa-miR-608	PAR-CLIP	23592263
MIRT483684	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT483685	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT483683	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT483682	hsa-miR-6769a-5p	PAR-CLIP	23592263
MIRT483681	hsa-miR-6769b-5p	PAR-CLIP	23592263
MIRT483680	hsa-miR-663b	PAR-CLIP	23592263
MIRT483679	hsa-miR-6748-5p	PAR-CLIP	23592263
MIRT483678	hsa-miR-4709-3p	PAR-CLIP	23592263
MIRT483677	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT483676	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT483675	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT483674	hsa-miR-1262	PAR-CLIP	23592263
MIRT483672	hsa-miR-4701-3p	PAR-CLIP	23592263
MIRT483673	hsa-miR-6736-5p	PAR-CLIP	23592263
MIRT483692	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT483691	hsa-miR-3677-5p	PAR-CLIP	23592263
MIRT483690	hsa-miR-6890-5p	PAR-CLIP	23592263
MIRT483689	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT483688	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT483687	hsa-miR-4651	PAR-CLIP	23592263
MIRT483686	hsa-miR-608	PAR-CLIP	23592263
MIRT483684	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT483685	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT483683	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT483682	hsa-miR-6769a-5p	PAR-CLIP	23592263
MIRT483681	hsa-miR-6769b-5p	PAR-CLIP	23592263
MIRT483680	hsa-miR-663b	PAR-CLIP	23592263
MIRT483679	hsa-miR-6748-5p	PAR-CLIP	23592263
MIRT483678	hsa-miR-4709-3p	PAR-CLIP	23592263
MIRT483677	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT483676	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT483675	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT483674	hsa-miR-1262	PAR-CLIP	23592263
MIRT483672	hsa-miR-4701-3p	PAR-CLIP	23592263
MIRT483673	hsa-miR-6736-5p	PAR-CLIP	23592263
MIRT483692	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT483691	hsa-miR-3677-5p	PAR-CLIP	23592263
MIRT483690	hsa-miR-6890-5p	PAR-CLIP	23592263
MIRT483689	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT483688	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT483687	hsa-miR-4651	PAR-CLIP	23592263
MIRT483686	hsa-miR-608	PAR-CLIP	23592263
MIRT483684	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT483685	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT483683	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT483682	hsa-miR-6769a-5p	PAR-CLIP	23592263
MIRT483681	hsa-miR-6769b-5p	PAR-CLIP	23592263
MIRT483680	hsa-miR-663b	PAR-CLIP	23592263
MIRT483679	hsa-miR-6748-5p	PAR-CLIP	23592263
MIRT483678	hsa-miR-4709-3p	PAR-CLIP	23592263
MIRT483677	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT483676	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT483675	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT483674	hsa-miR-1262	PAR-CLIP	23592263
MIRT483672	hsa-miR-4701-3p	PAR-CLIP	23592263
MIRT483673	hsa-miR-6736-5p	PAR-CLIP	23592263
MIRT483692	hsa-miR-4433b-3p	PAR-CLIP	23592263
MIRT483691	hsa-miR-3677-5p	PAR-CLIP	23592263
MIRT483690	hsa-miR-6890-5p	PAR-CLIP	23592263
MIRT483689	hsa-miR-342-5p	PAR-CLIP	23592263
MIRT483688	hsa-miR-4664-5p	PAR-CLIP	23592263
MIRT483687	hsa-miR-4651	PAR-CLIP	23592263
MIRT483686	hsa-miR-608	PAR-CLIP	23592263
MIRT483684	hsa-miR-6747-5p	PAR-CLIP	23592263
MIRT483685	hsa-miR-6756-5p	PAR-CLIP	23592263
MIRT483683	hsa-miR-6766-5p	PAR-CLIP	23592263
MIRT483682	hsa-miR-6769a-5p	PAR-CLIP	23592263
MIRT483681	hsa-miR-6769b-5p	PAR-CLIP	23592263
MIRT483680	hsa-miR-663b	PAR-CLIP	23592263
MIRT483679	hsa-miR-6748-5p	PAR-CLIP	23592263
MIRT483678	hsa-miR-4709-3p	PAR-CLIP	23592263
MIRT483677	hsa-miR-6737-5p	PAR-CLIP	23592263
MIRT483676	hsa-miR-6812-5p	PAR-CLIP	23592263
MIRT483675	hsa-miR-6819-5p	PAR-CLIP	23592263
MIRT483674	hsa-miR-1262	PAR-CLIP	23592263
MIRT483672	hsa-miR-4701-3p	PAR-CLIP	23592263
MIRT483673	hsa-miR-6736-5p	PAR-CLIP	23592263

Transcription factors Show/Hide all (12)

Transcription factor	Regulation	Reference
CREB1	Unknown	11057754
FOXL2	Repression	21862621
GATA6	Activation	15284005
GRHL1	Unknown	18004979
JUN	Unknown	11057754
NR4A1	Unknown	20083153
NR5A1	Unknown	11057754;23530236
NR5A2	Unknown	19067654
SF1	Activation	19477906
TFAP2A	Unknown	10446912
TFCP2L1	Unknown	18004979
UBP1	Unknown	18004979

Gene ontology (GO) Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IEA
GO:0005515	Function	Protein binding	IPI	25464930
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IEA
GO:0005739	Component	Mitochondrion	ISS
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	ISS
GO:0005759	Component	Mitochondrial matrix	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	IBA
GO:0006700	Process	C21-steroid hormone biosynthetic process	IDA	11502818, 18182448, 21636783
GO:0006700	Process	C21-steroid hormone biosynthetic process	IEA
GO:0006700	Process	C21-steroid hormone biosynthetic process	IEA
GO:0006700	Process	C21-steroid hormone biosynthetic process	TAS
GO:0006704	Process	Glucocorticoid biosynthetic process	IBA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IBA
GO:0008203	Process	Cholesterol metabolic process	IDA	21636783
GO:0008203	Process	Cholesterol metabolic process	IEA
GO:0008203	Process	Cholesterol metabolic process	IMP	18182448
GO:0008203	Process	Cholesterol metabolic process	ISS
GO:0008207	Process	C21-steroid hormone metabolic process	IEA
GO:0008386	Function	Cholesterol monooxygenase (side-chain-cleaving) activity	IBA
GO:0008386	Function	Cholesterol monooxygenase (side-chain-cleaving) activity	IDA	11502818, 18182448, 21636783
GO:0008386	Function	Cholesterol monooxygenase (side-chain-cleaving) activity	IEA
GO:0008386	Function	Cholesterol monooxygenase (side-chain-cleaving) activity	ISS
GO:0008386	Function	Cholesterol monooxygenase (side-chain-cleaving) activity	TAS
GO:0008395	Function	Steroid hydroxylase activity	IEA
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:0016713	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced iron-sulfur protein as one donor, and incorporation of one atom of oxygen	IEA
GO:0020037	Function	Heme binding	IDA	21636783
GO:0020037	Function	Heme binding	IEA
GO:0034650	Process	Cortisol metabolic process	IBA
GO:0042359	Process	Vitamin D metabolic process	ISS
GO:0046872	Function	Metal ion binding	IEA
GO:0071375	Process	Cellular response to peptide hormone stimulus	IBA
GO:0120178	Process	Steroid hormone biosynthetic process	IDA	21636783

Other IDs

• MIM: 118485
• HGNC: 2590
• e!Ensembl: ENSG00000140459

Protein

• UniProt ID: P05108
• Protein name: Cholesterol side-chain cleavage enzyme, mitochondrial (EC 1.14.15.6) (CYPXIA1) (Cholesterol desmolase) (Cytochrome P450 11A1) (Cytochrome P450(scc))
• Protein function: A cytochrome P450 monooxygenase that catalyzes the side-chain hydroxylation and cleavage of cholesterol to pregnenolone, the precursor of most steroid hormones (PubMed:21636783). Catalyzes three sequential oxidation reactions of cholesterol, nam
• PDB: 3N9Y , 3N9Z , 3NA0 , 3NA1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	52 → 511	Cytochrome P450	Domain

• Sequence:

  MLAKGLPPRSVLVKGCQTFLSAPREGLGRLRVPTGEGAGISTRSPRPFNEIPSPGDNGWL
  NLYHFWRETGTHKVHLHHVQNFQKYGPIYREKLGNVESVYVIDPEDVALLFKSEGPNPER
  FLIPPWVAYHQYYQRPIGVLLKKSAAWKKDRVALNQEVMAPEATKNFLPLLDAVSRDFVS
  VLHRRIKKAGSGNYSGDISDDLFRFAFESITNVIFGERQGMLEEVVNPEAQRFIDAIYQM
  FHTSVPMLNLPPDLFRLFRTKTWKDHVAAWDVIFSKADIYTQNFYWELRQKGSVHHDYRG
  ILYRLLGDSKMSFEDIKANVTEMLAGGVDTTSMTLQWHLYEMARNLKVQDMLRAEVLAAR
  HQAQGDMATMLQLVPLLKASIKETLRLHPISVTLQRYLVNDLVLRDYMIPAKTLVQVAIY
  ALGREPTFFFDPENFDPTRWLSKDKNITYFRNLGFGWGVRQCLGRRIAELEMTIFLINML
  ENFRVEIQHLSDVGTTFNLILMPEKPISFTFWPFNQEATQQ

• Sequence length: 521

Pathways

KEGG Pathway	Reactome Pathway
Steroid hormone biosynthesis	Pregnenolone biosynthesis
Metabolic pathways	Endogenous sterols
Ovarian steroidogenesis	Defective CYP11A1 causes Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR)
Aldosterone synthesis and secretion
Cortisol synthesis and secretion
Cushing syndrome

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 Show/Hide Causal Diseases (6)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	Pathogenic; Likely pathogenic	rs755186597, rs121912811	RCV003989707 RCV005859471	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital adrenal hyperplasia	Likely pathogenic	rs2060625814	RCV005887565	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital Adrenal Insufficiency	Likely pathogenic	rs1284060395	RCV003335937	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	Pathogenic; Likely pathogenic	rs1287871034, rs755186597, rs775102947, rs1021942880, rs762412759, rs757299093, rs886041121, rs1306288607, rs769950368, rs535782968, rs2548330961, rs2060619548, rs72547508, rs121912811, rs121912812, rs2060625814, rs121912813, rs121912814, rs776056840, rs387906601, rs1567053134, rs2060639501	RCV001536005 RCV001780600 RCV001794855 RCV004782843 RCV005008594 RCV000019071 RCV000327432 RCV005013083 RCV005003691 RCV005013173 RCV003992073 RCV000019068 RCV000019069 RCV000019070 RCV000019072 RCV000019073 RCV000019074 RCV000019075 RCV005004151 RCV000022465 RCV000778448 RCV001195422	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CYP11A1-related disorder	Pathogenic	rs757299093	RCV003409385	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Glioma susceptibility 1	Likely pathogenic; Pathogenic	rs121912811	RCV005887564	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (9)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
AUTISM SPECTRUM DISORDER	—	CTD	35663546	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL ADRENAL HYPERPLASIA DUE TO 21 HYDROXYLASE DEFICIENCY	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF SEX DEVELOPMENT, 46,XY	—	CTD	11502818	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	23200943	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	association	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pulmonary disease, chronic obstructive, susceptibility to	association	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SEIZURES	—	CTD	19125849	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	40341939	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining Show/Hide Text Mining Associations (119)
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46, XY Disorders of Sex Development	46, XY disorder of sex development	CTD_human_DG	11502818		★☆☆☆☆ Found in Text Mining only
46, XY Disorders of Sex Development	46, XY disorder of sex development	BEFREE	18182448		★☆☆☆☆ Found in Text Mining only
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	46, XY disorder of sex development-adrenal insufficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
46,XY Sex Reversal 3	46, XY Sex Reversal	CTD_human_DG	11502818		★☆☆☆☆ Found in Text Mining only
Aarskog syndrome	Aarskog Syndrome	BEFREE	26548497, 30817990		★☆☆☆☆ Found in Text Mining only
Addison Disease	Addison`s Disease	BEFREE	30299480, 31610036		★☆☆☆☆ Found in Text Mining only
Adenoma	Adenoma	BEFREE	11420487		★☆☆☆☆ Found in Text Mining only
Adrenal calcification	Adrenal calcification	HPO_DG			★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	10700725		★☆☆☆☆ Found in Text Mining only
Adrenal Cortical Adenoma	Adrenocortical adenoma	LHGDN	18505908		★☆☆☆☆ Found in Text Mining only
Adrenal cortical hypofunction	Adrenal Cortical Hypofunction	BEFREE	16705068, 19116240, 21880796, 22968487, 29995203, 30299480		★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	31917682	Associate	★☆☆☆☆ Found in Text Mining only
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal	Adrenal Insufficiency, Congenital, With 46 XY Sex Reversal	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE	Congenital Adrenal Insufficiency, With 46,XY Sex Reversal, Partial Or Complete	UNIPROT_DG	11502818, 12161514, 16705068, 18182448, 19116240		★☆☆☆☆ Found in Text Mining only
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE	Congenital Adrenal Insufficiency, With 46,XY Sex Reversal, Partial Or Complete	ORPHANET_DG	11502818, 15507506, 18182448		★☆☆☆☆ Found in Text Mining only
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE	Congenital Adrenal Insufficiency, With 46,XY Sex Reversal, Partial Or Complete	GENOMICS_ENGLAND_DG	18182448, 28425981		★☆☆☆☆ Found in Text Mining only
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE	Congenital Adrenal Insufficiency, With 46,XY Sex Reversal, Partial Or Complete	BEFREE	19116240, 27008691		★☆☆☆☆ Found in Text Mining only
ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE	Congenital Adrenal Insufficiency, With 46,XY Sex Reversal, Partial Or Complete	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Adrenocortical carcinoma	Adrenocortical carcinoma	BEFREE	9231058		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	BEFREE	16705068		★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Anaphylaxis	Anaphylaxis	Pubtator	32497050	Associate	★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	31671693	Associate	★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman Syndrome	BEFREE	29566378		★☆☆☆☆ Found in Text Mining only
Angelman Syndrome	Angelman syndrome	Pubtator	29566378	Associate	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	26750596		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	26690694		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	15054879, 22796438		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	26147665	Associate	★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	15159300, 17178901, 17575134, 18483327, 22606018, 29445914, 31060224		★☆☆☆☆ Found in Text Mining only
Breast Diseases	Breast Diseases	BEFREE	18483327		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	17575134, 18483327, 22606018, 29445914	Associate	★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	32126981	Associate	★☆☆☆☆ Found in Text Mining only
Childhood asthma	Asthma	BEFREE	26750596		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	1337141		★☆☆☆☆ Found in Text Mining only
Chronic sinusitis	Sinusitis	BEFREE	24810847		★☆☆☆☆ Found in Text Mining only
Clonic Seizures	Clonic Seizures	CTD_human_DG	19125849		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	17615053	Associate	★☆☆☆☆ Found in Text Mining only
Complex partial seizures	Seizure	CTD_human_DG	19125849		★☆☆☆☆ Found in Text Mining only
Congenital adrenal hyperplasia	Congenital adrenal hyperplasia	BEFREE	31708872		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital hypoplasia of adrenal gland	Congenital adrenal hypoplasia	BEFREE	15181092		★☆☆☆☆ Found in Text Mining only
Cortical cataract	Cortical cataract	BEFREE	28743557		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	BEFREE	19116240		★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	34281122	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	18182448, 22968487, 30299480	Associate	★☆☆☆☆ Found in Text Mining only
EDICT syndrome	EDICT Syndrome	BEFREE	14638698		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	20199803, 21544810, 23200943		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	23200943		★☆☆☆☆ Found in Text Mining only
Endometrial Hyperplasia	Endometrial Hyperplasia	LHGDN	12517592		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	12517592		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	20199803, 21544810	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	23200943		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometriosis	Endometriosis	BEFREE	25137424		★☆☆☆☆ Found in Text Mining only
Epileptic drop attack	Hypotonic seizures	CTD_human_DG	19125849		★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	23358850	Associate	★☆☆☆☆ Found in Text Mining only
Familial Glucocorticoid Deficiency 1	Glucocorticoid deficiency	Pubtator	35418949, 36593618	Associate	★☆☆☆☆ Found in Text Mining only
Fanconi Anemia	Fanconi Anemia	BEFREE	29216900		★☆☆☆☆ Found in Text Mining only
Fetal ascites	Fetal ascites	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Generalized seizures	Seizure	CTD_human_DG	19125849		★☆☆☆☆ Found in Text Mining only
Glucocorticoid Deficiency 2	Glucocorticoid deficiency	Pubtator	36593618	Associate	★☆☆☆☆ Found in Text Mining only
Gynecomastia	Gynecomastia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hamartoma Syndrome, Multiple	Hamartoma	BEFREE	28743557		★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	27681703	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	BEFREE	10419001, 11287037, 9147642		★☆☆☆☆ Found in Text Mining only
Hypernatriuria	Hypernatriuria	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	21633377		★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	19116240		★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	Pubtator	22968487, 29178636, 32515122	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias, penoscrotal	Hypospadias	BEFREE	22968487		★☆☆☆☆ Found in Text Mining only
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Inherited Isolated Adrenal Insufficiency	ORPHANET_DG	21880796		★☆☆☆☆ Found in Text Mining only
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	Inherited Isolated Adrenal Insufficiency	Orphanet			★☆☆☆☆ Found in Text Mining only
Jacksonian Seizure	Jacksonian Seizure	CTD_human_DG	19125849		★☆☆☆☆ Found in Text Mining only
Lipoid congenital adrenal hyperplasia	Lipoid Congenital Adrenal Hyperplasia	BEFREE	11502818, 1661294, 21159840		★☆☆☆☆ Found in Text Mining only
Lipoid congenital adrenal hyperplasia	Lipoid Congenital Adrenal Hyperplasia	CTD_human_DG	11502818		★☆☆☆☆ Found in Text Mining only
Lipoid congenital adrenal hyperplasia	Congenital lipoid adrenal hyperplasia	Pubtator	1661294	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	2831049		★☆☆☆☆ Found in Text Mining only
Liver neoplasms	Liver neoplasms	BEFREE	2831049		★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	CTD_human_DG	11502818		★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15159300, 17178901, 17575134, 18483327, 22606018, 29445914, 31060224		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	20199803, 21544810, 23200943		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	15054879, 18992638, 22796438, 29369461		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	15159300, 17178901, 17575134		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	30200275	Associate	★☆☆☆☆ Found in Text Mining only
Neonatal hypoglycemia	Hypoglycemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10700725, 20395670, 23756599, 26332453, 31283987, 9231058		★☆☆☆☆ Found in Text Mining only
NONAKA MYOPATHY	Inclusion body myopathy	BEFREE	8557160		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	24793009	Associate	★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	28343310		★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	26108486		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	38297261	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Hyperstimulation Syndrome	Ovarian Hyperstimulation Syndrome	BEFREE	16391898, 28379469		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	32590918	Associate	★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	19116240		★☆☆☆☆ Found in Text Mining only
Pervasive Development Disorder	Autism spectrum disorder	BEFREE	26690694		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	10379893, 10419001, 11149629, 11821083, 14644808, 15054879, 15126571, 15159300, 15284005, 16764871, 18725155, 21557918, 22699877, 23008094, 23155436, 23852617, 24610422, 24706793, 24793009, 28345956, 31276164, 31606536, 9147642, 9455828, 9922108		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	10411917, 10731534, 11821083, 18725155, 23155436, 24706793, 24793009, 31276164, 34001150, 35886014, 37445796, 38069013	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	LHGDN	14644808		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	30802529	Inhibit	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	34233642	Stimulate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	15054879, 18992638, 22796438, 29369461		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	39806744	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18782595, 38320513	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	18992638		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	26332453		★☆☆☆☆ Found in Text Mining only
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	22968487		★☆☆☆☆ Found in Text Mining only
Single Seizure	Seizure	CTD_human_DG	19125849		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	23358850		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	27893427	Associate	★☆☆☆☆ Found in Text Mining only
Testicular adrenal rest tumor	Testicular adrenal rest tumor	BEFREE	30299480		★☆☆☆☆ Found in Text Mining only
Tonic - clonic seizures	Seizure	CTD_human_DG	19125849		★☆☆☆☆ Found in Text Mining only
Trichohepatoenteric Syndrome	Trichohepatoenteric Syndrome	BEFREE	9922108		★☆☆☆☆ Found in Text Mining only
Visual seizure	Seizure	CTD_human_DG	19125849		★☆☆☆☆ Found in Text Mining only
X-linked Adrenal Hypoplasia	Adrenal Hypoplasia, X-Linked	BEFREE	15181092		★☆☆☆☆ Found in Text Mining only

Related Genes

Sort by: Blended Diseases Pathways Evidence source

STAR 2 shared diseasesCongenital adrenal hyperplasia, Endometrial neoplasms 5 shared pathwaysOvarian steroidogenesis, Aldosterone synthesis and secretion, Cortisol synthesis and secretion, Cushing syndrome, Pregnenolone biosynthesis 2 shared evidence sourcesDisgenet (Congenital adrenal hyperplasia), CTD (Endometrial neoplasms) Related via 5 shared pathways including Ovarian steroidogenesis, Aldosterone synthesis and secretion — evidence mostly Disgenet. CYP19A1 2 shared diseasesCongenital adrenal hyperplasia, Endometrial neoplasms 3 shared pathwaysSteroid hormone biosynthesis, Ovarian steroidogenesis, Endogenous sterols 1 shared evidence sourceDisgenet (Congenital adrenal hyperplasia) Related via 3 shared pathways including Steroid hormone biosynthesis, Ovarian steroidogenesis — evidence mostly Disgenet. CYP21A2 1 shared diseaseCongenital adrenal hyperplasia 5 shared pathwaysSteroid hormone biosynthesis, Aldosterone synthesis and secretion, Cortisol synthesis and secretion, Cushing syndrome, Endogenous sterols 1 shared evidence sourceDisgenet (Congenital adrenal hyperplasia) Related via 5 shared pathways including Steroid hormone biosynthesis, Aldosterone synthesis and secretion — evidence mostly Disgenet. HSD3B2 1 shared diseaseCongenital adrenal hyperplasia 5 shared pathwaysSteroid hormone biosynthesis, Ovarian steroidogenesis, Aldosterone synthesis and secretion, Cortisol synthesis and secretion, Cushing syndrome 1 shared evidence sourceDisgenet (Congenital adrenal hyperplasia) Related via 5 shared pathways including Steroid hormone biosynthesis, Ovarian steroidogenesis — evidence mostly Disgenet. HSD3B1 5 shared pathwaysSteroid hormone biosynthesis, Ovarian steroidogenesis, Aldosterone synthesis and secretion, Cortisol synthesis and secretion, Cushing syndrome Related via 5 shared pathways including Steroid hormone biosynthesis, Ovarian steroidogenesis.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
STAR	2	["Congenital adrenal hyperplasia","Endometrial neoplasms"]	5	["Ovarian steroidogenesis","Aldosterone synthesis and secretion","Cortisol synthesis and secretion","Cushing syndrome","Pregnenolone biosynthesis"]	2	["Disgenet (Congenital adrenal hyperplasia)","CTD (Endometrial neoplasms)"]
CYP19A1	2	["Congenital adrenal hyperplasia","Endometrial neoplasms"]	3	["Steroid hormone biosynthesis","Ovarian steroidogenesis","Endogenous sterols"]	1	["Disgenet (Congenital adrenal hyperplasia)"]
CYP21A2	1	["Congenital adrenal hyperplasia"]	5	["Steroid hormone biosynthesis","Aldosterone synthesis and secretion","Cortisol synthesis and secretion","Cushing syndrome","Endogenous sterols"]	1	["Disgenet (Congenital adrenal hyperplasia)"]
HSD3B2	1	["Congenital adrenal hyperplasia"]	5	["Steroid hormone biosynthesis","Ovarian steroidogenesis","Aldosterone synthesis and secretion","Cortisol synthesis and secretion","Cushing syndrome"]	1	["Disgenet (Congenital adrenal hyperplasia)"]
HSD3B1	0	[]	5	["Steroid hormone biosynthesis","Ovarian steroidogenesis","Aldosterone synthesis and secretion","Cortisol synthesis and secretion","Cushing syndrome"]	0	[]

Diseases Linked via Similar Genes

Polycystic ovary syndrome Linked via 4 of 5 related genesSTAR, CYP19A1, HSD3B2, HSD3B1 Prostatic neoplasms Linked via 3 of 5 related genesCYP19A1, HSD3B2, HSD3B1 Congenital lipoid adrenal hyperplasia Linked via 1 of 5 related genesSTAR Glucocorticoid deficiency Linked via 1 of 5 related genesSTAR Schizophrenia Linked via 1 of 5 related genesSTAR

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Polycystic ovary syndrome	4	["STAR","CYP19A1","HSD3B2","HSD3B1"]
Prostatic neoplasms	3	["CYP19A1","HSD3B2","HSD3B1"]
Congenital lipoid adrenal hyperplasia	1	["STAR"]
Glucocorticoid deficiency	1	["STAR"]
Schizophrenia	1	["STAR"]