POR (cytochrome p450 oxidoreductase)

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: 5447
• Gene name: Cytochrome p450 oxidoreductase
• Gene symbol: POR
• Synonyms (NCBI Gene): CPR, CYPOR, P450R
• Chromosome: 7
• Chromosome location: 7q11.23
• Summary: This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein

SNPs Show/Hide all (19)

SNP ID	Visualize variation	Clinical significance	Consequence
rs17853284	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs28931606	T>A	Pathogenic	Missense variant, coding sequence variant
rs28931607	G>A	Pathogenic	Missense variant, coding sequence variant
rs28931608	G>A,C	Pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs72552771	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs72552772	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs72557906	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs121912974	G>C	Pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs121912975	A>G	Pathogenic	Missense variant, coding sequence variant
rs121912976	G>A,C	Pathogenic	Missense variant, coding sequence variant
rs145782750	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs373613946	C>A,G,T	Pathogenic	Synonymous variant, coding sequence variant, stop gained
rs781805159	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs786205099	G>A	Pathogenic	Splice donor variant
rs786205875	->C	Pathogenic	Coding sequence variant, frameshift variant
rs786205876	TAAAGCAAGACCGAGAGCACCTGT>-	Pathogenic	Coding sequence variant, inframe indel
rs786205878	->TACGTGGACAAGC	Pathogenic	Coding sequence variant, frameshift variant
rs936203749	T>C	Likely-pathogenic	Splice donor variant
rs1563435458	->CCTTCAAGGCCACCACGCCTGTCATCATGGTGGGCCCCGGCACCGGGGT	Pathogenic	Coding sequence variant, frameshift variant

miRNA Show/Hide all (29)

miRTarBase ID	miRNA	Experiments	Reference
MIRT017903	hsa-miR-335-5p	Microarray	18185580
MIRT049130	hsa-miR-92a-3p	CLASH	23622248
MIRT039293	hsa-miR-671-5p	CLASH	23622248
MIRT438091	hsa-miR-214-3p	Luciferase reporter assay	23905773
MIRT438091	hsa-miR-214-3p	Luciferase reporter assay	23905773
MIRT438091	hsa-miR-214-3p	Luciferase reporter assay	23905773
MIRT438091	hsa-miR-214-3p	Luciferase reporter assay	23905773
MIRT1250267	hsa-miR-154	CLIP-seq
MIRT1250268	hsa-miR-4257	CLIP-seq
MIRT1250269	hsa-miR-4282	CLIP-seq
MIRT1250270	hsa-miR-4640-5p	CLIP-seq
MIRT1250271	hsa-miR-4699-3p	CLIP-seq
MIRT1250272	hsa-miR-4726-5p	CLIP-seq
MIRT1250273	hsa-miR-944	CLIP-seq
MIRT2073909	hsa-miR-4294	CLIP-seq
MIRT2073910	hsa-miR-924	CLIP-seq
MIRT2300747	hsa-miR-296-5p	CLIP-seq
MIRT2300748	hsa-miR-3184	CLIP-seq
MIRT2300749	hsa-miR-329	CLIP-seq
MIRT2300750	hsa-miR-362-3p	CLIP-seq
MIRT2300751	hsa-miR-3922-5p	CLIP-seq
MIRT2300752	hsa-miR-423-5p	CLIP-seq
MIRT2300753	hsa-miR-4267	CLIP-seq
MIRT2300754	hsa-miR-4480	CLIP-seq
MIRT2300755	hsa-miR-4492	CLIP-seq
MIRT2300756	hsa-miR-4498	CLIP-seq
MIRT2300757	hsa-miR-4505	CLIP-seq
MIRT2300758	hsa-miR-4753-5p	CLIP-seq
MIRT2300759	hsa-miR-762	CLIP-seq

Transcription factors Show/Hide all (7)

Transcription factor	Regulation	Reference
EGR1	Unknown	10864447
SMAD3	Unknown	21393444
SMAD4	Unknown	21393444
SP1	Activation	8660656
SP1	Repression	8660656
SP1	Unknown	10864447;21900384
THRB	Unknown	21393444

Gene ontology (GO) Show/Hide all (48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003958	Function	NADPH-hemoprotein reductase activity	IBA
GO:0003958	Function	NADPH-hemoprotein reductase activity	IDA	2513880, 10048323, 19448135
GO:0003958	Function	NADPH-hemoprotein reductase activity	IEA
GO:0003958	Function	NADPH-hemoprotein reductase activity	TAS
GO:0004128	Function	Cytochrome-b5 reductase activity, acting on NAD(P)H	IEA
GO:0005515	Function	Protein binding	IPI	21081644, 35271311
GO:0005737	Component	Cytoplasm	IEA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005829	Component	Cytosol	IBA
GO:0006805	Process	Xenobiotic metabolic process	TAS
GO:0006809	Process	Nitric oxide biosynthetic process	IBA
GO:0007584	Process	Response to nutrient	IEA
GO:0008047	Function	Enzyme activator activity	IDA	19448135
GO:0008941	Function	Nitric oxide dioxygenase NAD(P)H activity	IEA
GO:0009055	Function	Electron transfer activity	IEA
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0009437	Process	Carnitine metabolic process	IEA
GO:0009725	Process	Response to hormone	IBA
GO:0009812	Process	Flavonoid metabolic process	IEA
GO:0010181	Function	FMN binding	IBA
GO:0010181	Function	FMN binding	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019395	Process	Fatty acid oxidation	IEA
GO:0019899	Function	Enzyme binding	IEA
GO:0022900	Process	Electron transport chain	IDA	2513880, 10048323
GO:0032332	Process	Positive regulation of chondrocyte differentiation	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA	9618440
GO:0043602	Process	Nitrate catabolic process	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0046210	Process	Nitric oxide catabolic process	IEA
GO:0047726	Function	Iron-cytochrome-c reductase activity	IEA
GO:0050660	Function	Flavin adenine dinucleotide binding	IBA
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0050661	Function	NADP binding	IEA
GO:0061913	Process	Positive regulation of growth plate cartilage chondrocyte proliferation	IEA
GO:0070988	Process	Demethylation	IEA
GO:0071371	Process	Cellular response to gonadotropin stimulus	IEA
GO:0071372	Process	Cellular response to follicle-stimulating hormone stimulus	IEA
GO:0071375	Process	Cellular response to peptide hormone stimulus	IEA
GO:0071548	Process	Response to dexamethasone	IEA
GO:0090031	Process	Positive regulation of steroid hormone biosynthetic process	IEA
GO:0090346	Process	Organofluorine metabolic process	IDA	19448135

Other IDs

• MIM: 124015
• HGNC: 9208
• e!Ensembl: ENSG00000127948

Protein

• UniProt ID: P16435
• Protein name: NADPH--cytochrome P450 reductase (CPR) (P450R) (EC 1.6.2.4)
• Protein function: This enzyme is required for electron transfer from NADP to cytochrome P450 in microsomes. It can also provide electron transfer to heme oxygenase and cytochrome B5.
• PDB: 1B1C , 3FJO , 3QE2 , 3QFC , 3QFR , 3QFS , 3QFT , 5EMN , 5FA6
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00175	NAD_binding_1	530 → 641	Oxidoreductase NAD-binding domain	Domain
  PF00258	Flavodoxin_1	82 → 219	Flavodoxin	Domain
  PF00667	FAD_binding_1	274 → 493	FAD binding domain	Domain

• Sequence:

  MGDSHVDTSSTVSEAVAEEVSLFSMTDMILFSLIVGLLTYWFLFRKKKEEVPEFTKIQTL
  TSSVRESSFVEKMKKTGRNIIVFYGSQTGTAEEFANRLSKDAHRYGMRGMSADPEEYDLA
  DLSSLPEIDNALVVFCMATYGEGDPTDNAQDFYDWLQETDVDLSGVKFAVFGLGNKTYEH
  FNAMGKYVDKRLEQLGAQRIFELGLGDDDGNLEEDFITWREQFWPAVCEHFGVEATGEES
  SIRQYELVVHTDIDAAKVYMGEMGRLKSYENQKPPFDAKNPFLAAVTTNRKLNQGTERHL
  MHLELDISDSKIRYESGDHVAVYPANDSALVNQLGKILGADLDVVMSLNNLDEESNKKHP
  FPCPTSYRTALTYYLDITNPPRTNVLYELAQYASEPSEQELLRKMASSSGEGKELYLSWV
  VEARRHILAILQDCPSLRPPIDHLCELLPRLQARYYSIASSSKVHPNSVHICAVVVEYET
  KAGRINKGVATNWLRAKEPAGENGGRALVPMFVRKSQFRLPFKATTPVIMVGPGTGVAPF
  IGFIQERAWLRQQGKEVGETLLYYGCRRSDEDYLYREELAQFHRDGALTQLNVAFSREQS
  HKVYVQHLLKQDREHLWKLIEGGAHIYVCGDARNMARDVQNTFYDIVAELGAMEHAQAVD
  YIKKLMTKGRYSLDVWS

• Sequence length: 677

Pathways

Reactome Pathway:

Cytochrome P450 - arranged by substrate type

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 (9)
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	Likely pathogenic; Pathogenic	rs72557954, rs782261248, rs781946801, rs782343026, rs2116630442, rs74900634, rs1789094697, rs373053855, rs1352009961, rs2535263403, rs201786397, rs28931606, rs121912974, rs786205099, rs28931608, rs786205875, rs121912975, rs786205876, rs786205878, rs121912976, rs781805159, rs782336856, rs373613946	RCV005005267 RCV003136154 RCV005032002 RCV002503557 RCV002227920 RCV005032236 RCV005042941 RCV005036855 RCV005036928 RCV005036939 RCV005040496 RCV000018400 RCV000018401 RCV000018404 RCV000018406 RCV000018410 RCV000018411 RCV000018412 RCV000018414 RCV000018415 RCV005036111 RCV005047036 RCV000985273	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	Likely pathogenic; Pathogenic	rs72557954, rs782343026	RCV005396965 RCV002503557	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cervical cancer	Pathogenic	rs121912974	RCV005887545	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital adrenal hyperplasia	Likely pathogenic; Pathogenic	rs72557954, rs781946801, rs74900634, rs782534601, rs28931607, rs121912976, rs2545335404, rs782336856, rs781914230	RCV002469408 RCV003120777 RCV002308514 RCV003155862 RCV001553652 RCV003234913 RCV003995024 RCV006269002 RCV004801074	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	Pathogenic; Likely pathogenic	rs1181572912, rs72557954, rs782261248, rs781946801, rs782395275, rs1563433095, rs782343026, rs782168868, rs74900634, rs782696006, rs1789094697, rs2535413569, rs2535412257, rs2535382134, rs2535365951, rs2535411057, rs2535414492, rs2535394735, rs373053855, rs2535402021, rs782024141, rs1788943860, rs2535366127, rs782677940, rs782700768, rs1563435595, rs1563436097, rs2535415169, rs2535408971, rs2535373095, rs782425291, rs2535395073, rs2535366220, rs2535400917, rs2535372434, rs1789402781, rs786205875, rs1352009961, rs782697310, rs2535412179, rs2535409791, rs2535411225, rs2535404377, rs74316682, rs2535263403, rs782579716, rs371322093, rs201786397, rs373613946, rs201008307, rs2535392949, rs2535412438, rs2535387288, rs2535401475, rs121912974, rs28931607, rs72552772, rs72552771, rs28931608, rs786205876, rs121912976, rs377017180, rs936203749, rs1563435458, rs781805159, rs782336856, rs781914230	RCV003632525 RCV005005267 RCV002541209 RCV001941870 RCV001939497 RCV001920623 RCV001935143 RCV001983576 RCV003775014 RCV002621147 RCV002675766 RCV002929042 RCV003384314 RCV003517570 RCV003518312 RCV003518101 RCV003518231 RCV003518083 RCV003518265 RCV003518240 RCV003518637 RCV003518713 RCV003518761 RCV003518762 RCV003518763 RCV003518764 RCV003518765 RCV003518766 RCV003517645 RCV003517633 RCV003631349 RCV003631431 RCV003631408 RCV003631466 RCV003631547 RCV003631608 RCV003631682 RCV003631781 RCV003631735 RCV003631748 RCV003631978 RCV003631909 RCV003631874 RCV003631967 RCV003632100 RCV003632036 RCV003632396 RCV003632362 RCV003632950 RCV003632912 RCV003838934 RCV003835196 RCV003842550 RCV003867042 RCV003881276 RCV003881385 RCV000170457 RCV000018402 RCV000018403 RCV000018405 RCV000018407 RCV002513101 RCV005031442 RCV000018416 RCV005103136 RCV000699159 RCV000704080 RCV000779537 RCV000779538 RCV003768629 RCV001914749	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Differences in sex development	Pathogenic; Likely pathogenic	rs121912974, rs28931607	RCV005865186 RCV005865187	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Fine-Lubinsky syndrome	Likely pathogenic	rs782104882	RCV003326029	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
POR-related disorder	Pathogenic; Likely pathogenic	rs1554558791, rs121912974, rs121912976, rs377017180	RCV002245301 RCV002243651 RCV004737158 RCV004542615	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sarcoma	Pathogenic	rs121912974	RCV005887546	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations Show/Hide Unknown Diseases (37)
Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
46,XY disorder of sex development	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 21-HYDROXYLASE DEFICIENCY	Benign; Likely benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Aganglionic megacolon	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ambiguous genitalia	Uncertain significance	ClinVar Disgenet	—	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMENORRHEA	—	CTD	14758361	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTLEY-BIXLER SYNDROME	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	15483095	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTLEY-BIXLER SYNDROME PHENOTYPE	—	CTD	14758361, 15220035, 16906539, 27496950	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTLEY-BIXLER SYNDROME WITH DISORDERED STEROIDOGENESIS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALY AND DISORDER OF STEROIDOGENESIS	—	Orphanet	15483095	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANTLEY-BIXLER SYNDROME, AUTOSOMAL DOMINANT	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGESTIVE HEART FAILURE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Disorder of sexual differentiation	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDERED STEROIDOGENESIS DUE TO CYTOCHROME P450 OXIDOREDUCTASE DEFICIENCY	—	HPO	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GLIOSARCOMA	—	CTD	9766669	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	CTD, Disgenet CTD, Disgenet	36071497	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HIRSCHSPRUNG DISEASE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISABILITIES	—	CTD, Disgenet CTD, Disgenet	21987461	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEARNING DISORDERS	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POST-TRAUMATIC STRESS DISORDER	—	GWAS catalog	38637617	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Conflicting classifications of pathogenicity	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	39349817	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
URINARY BLADDER NEOPLASMS	—	CTD	8631603	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Uncertain significance	ClinVar	—	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Related Genes

Sort by: Blended Diseases Pathways Evidence source

CYP17A1 4 shared diseasesAmenorrhea, Congenital adrenal hyperplasia, Premature ovarian failure, Urinary bladder neoplasms 5 shared evidence sourcesCTD (Amenorrhea), Disgenet (Congenital adrenal hyperplasia), Orphanet (Congenital adrenal hyperplasia), Disgenet (Premature ovarian failure), CTD (Urinary bladder neoplasms) Related via 4 shared diseases including Amenorrhea, Congenital adrenal hyperplasia — evidence mostly CTD. GSK3B 2 shared diseasesCongestive heart failure, Urinary bladder neoplasms 4 shared evidence sourcesDisgenet (Congestive heart failure), CTD (Heart failure), Disgenet (Heart failure), CTD (Urinary bladder neoplasms) Related via 2 shared diseases including Congestive heart failure, Urinary bladder neoplasms — evidence mostly Disgenet. MT1A 2 shared diseasesLearning disorders, Urinary bladder neoplasms 2 shared evidence sourcesDisgenet (Learning disorders), CTD (Urinary bladder neoplasms) Related via 2 shared diseases including Learning disorders, Urinary bladder neoplasms — evidence mostly Disgenet. EDNRB 2 shared diseasesCongestive heart failure, Hirschsprung disease 4 shared evidence sourcesDisgenet (Congestive heart failure), CTD (Heart failure), Disgenet (Heart failure), Disgenet (Hirschsprung disease) Related via 2 shared diseases including Congestive heart failure, Hirschsprung disease — evidence mostly Disgenet. GRIA1 2 shared diseasesLearning disorders, Post-traumatic stress disorder 3 shared evidence sourcesCTD (Learning disorders), Disgenet (Learning disorders), GWAS catalog (Post-traumatic stress disorder) Related via 2 shared diseases including Learning disorders, Post-traumatic stress disorder — evidence mostly CTD.

Related Gene	Shared Diseases	Shared Disease Names	Shared Pathways	Shared Pathway Names	Shared Evidence Sources	Shared Evidence Names
CYP17A1	4	["Amenorrhea","Congenital adrenal hyperplasia","Premature ovarian failure","Urinary bladder neoplasms"]	0	[]	5	["CTD (Amenorrhea)","Disgenet (Congenital adrenal hyperplasia)","Orphanet (Congenital adrenal hyperplasia)","Disgenet (Premature ovarian failure)","CTD (Urinary bladder neoplasms)"]
GSK3B	2	["Congestive heart failure","Urinary bladder neoplasms"]	0	[]	4	["Disgenet (Congestive heart failure)","CTD (Heart failure)","Disgenet (Heart failure)","CTD (Urinary bladder neoplasms)"]
MT1A	2	["Learning disorders","Urinary bladder neoplasms"]	0	[]	2	["Disgenet (Learning disorders)","CTD (Urinary bladder neoplasms)"]
EDNRB	2	["Congestive heart failure","Hirschsprung disease"]	0	[]	4	["Disgenet (Congestive heart failure)","CTD (Heart failure)","Disgenet (Heart failure)","Disgenet (Hirschsprung disease)"]
GRIA1	2	["Learning disorders","Post-traumatic stress disorder"]	0	[]	3	["CTD (Learning disorders)","Disgenet (Learning disorders)","GWAS catalog (Post-traumatic stress disorder)"]

Diseases Linked via Similar Genes

Breast neoplasms Linked via 3 of 5 related genesCYP17A1, GSK3B, EDNRB Major depressive disorder Linked via 3 of 5 related genesCYP17A1, GSK3B, GRIA1 Hepatocellular carcinoma Linked via 2 of 5 related genesCYP17A1, MT1A Colorectal cancer Linked via 2 of 5 related genesCYP17A1, GRIA1 Hypertension Linked via 2 of 5 related genesCYP17A1, GSK3B

Disease	Linked Via (Gene Count)	Linked Via (Gene Names)
Breast neoplasms	3	["CYP17A1","GSK3B","EDNRB"]
Major depressive disorder	3	["CYP17A1","GSK3B","GRIA1"]
Hepatocellular carcinoma	2	["CYP17A1","MT1A"]
Colorectal cancer	2	["CYP17A1","GRIA1"]
Hypertension	2	["CYP17A1","GSK3B"]