SRD5A2 (steroid 5 alpha-reductase 2)

Gene

• Entrez ID: 6716
• Gene name: Steroid 5 alpha-reductase 2
• Gene symbol: SRD5A2
• Synonyms (NCBI Gene): -
• Chromosome: 2
• Chromosome location: 2p23.1
• Summary: This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs9332960	G>A	Pathogenic	Coding sequence variant, genic upstream transcript variant, intron variant, stop gained
rs9332961	C>T	Pathogenic	Coding sequence variant, missense variant
rs9332964	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs9332966	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs9332967	C>T	Pathogenic	Coding sequence variant, missense variant
rs61748127	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs61750397	T>G	Not-provided, likely-pathogenic	Splice acceptor variant
rs104893667	G>A,C	Pathogenic	Intron variant, synonymous variant, coding sequence variant, stop gained, genic upstream transcript variant
rs121434244	G>A	Pathogenic	Coding sequence variant, missense variant
rs121434245	A>T	Pathogenic	Intron variant, genic upstream transcript variant, coding sequence variant, missense variant
rs121434246	C>T	Pathogenic	Coding sequence variant, missense variant
rs121434247	C>T	Pathogenic	Coding sequence variant, missense variant
rs121434248	G>A	Pathogenic	Stop gained, coding sequence variant
rs121434249	C>G,T	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs121434250	C>G,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Coding sequence variant, missense variant
rs121434251	T>C	Pathogenic	Coding sequence variant, missense variant
rs121434252	G>C	Pathogenic	Coding sequence variant, missense variant
rs121434253	C>A	Pathogenic	Coding sequence variant, missense variant
rs201175894	A>C,G	Pathogenic	Coding sequence variant, intron variant, genic upstream transcript variant, missense variant
rs267599353	G>A,T	Pathogenic	Coding sequence variant, stop gained, synonymous variant
rs368386747	T>C	Pathogenic	Coding sequence variant, missense variant
rs587776566	ATT>-	Pathogenic	Inframe deletion, coding sequence variant
rs587776567	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs750444774	C>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, intron variant, missense variant
rs756853742	C>T	Pathogenic	Missense variant, coding sequence variant
rs761824859	A>G	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant, intron variant
rs763296857	T>C	Pathogenic	Coding sequence variant, missense variant
rs767564684	G>T	Pathogenic	Coding sequence variant, missense variant
rs772283403	T>A	Pathogenic	Coding sequence variant, missense variant
rs782032018	C>G,T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, intron variant
rs886039748	A>G	Pathogenic	Intron variant, missense variant, genic upstream transcript variant, initiator codon variant
rs1057517829	G>A	Pathogenic	Missense variant, coding sequence variant
rs1057519061	A>C,G	Uncertain-significance, pathogenic	Intron variant
rs1057519091	G>C	Pathogenic	Missense variant, coding sequence variant
rs1060499834	G>A	Pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained, intron variant
rs1200261940	G>A,T	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs1340425455	T>A,C	Pathogenic	Splice acceptor variant
rs1553323033	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553323036	T>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1553323488	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1553329427	A>-	Pathogenic	Genic upstream transcript variant, intron variant, frameshift variant, coding sequence variant
rs1553329443	C>A	Pathogenic	Genic upstream transcript variant, intron variant, coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1387894	hsa-miR-2355-3p	CLIP-seq
MIRT1387895	hsa-miR-33a	CLIP-seq
MIRT1387896	hsa-miR-33b	CLIP-seq
MIRT1387897	hsa-miR-4797-5p	CLIP-seq
MIRT1387898	hsa-miR-676	CLIP-seq
MIRT2116200	hsa-miR-145	CLIP-seq
MIRT2116201	hsa-miR-3190	CLIP-seq
MIRT2116202	hsa-miR-337-3p	CLIP-seq
MIRT1387895	hsa-miR-33a	CLIP-seq
MIRT1387896	hsa-miR-33b	CLIP-seq
MIRT2116203	hsa-miR-3650	CLIP-seq
MIRT2116204	hsa-miR-3685	CLIP-seq
MIRT2116205	hsa-miR-384	CLIP-seq
MIRT2116206	hsa-miR-3911	CLIP-seq
MIRT2116207	hsa-miR-4277	CLIP-seq
MIRT2116208	hsa-miR-4299	CLIP-seq
MIRT2116209	hsa-miR-4456	CLIP-seq
MIRT2116210	hsa-miR-548q	CLIP-seq
MIRT2338728	hsa-miR-1299	CLIP-seq
MIRT2338729	hsa-miR-3064-3p	CLIP-seq
MIRT2338730	hsa-miR-3148	CLIP-seq
MIRT2338731	hsa-miR-3182	CLIP-seq
MIRT2338732	hsa-miR-4252	CLIP-seq
MIRT2338733	hsa-miR-4528	CLIP-seq
MIRT2338734	hsa-miR-4715-3p	CLIP-seq
MIRT2338735	hsa-miR-4782-5p	CLIP-seq
MIRT2338736	hsa-miR-516b	CLIP-seq
MIRT2338737	hsa-miR-570	CLIP-seq
MIRT2338738	hsa-miR-875-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003865	Function	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IBA
GO:0003865	Function	3-oxo-5-alpha-steroid 4-dehydrogenase activity	IEA
GO:0003865	Function	3-oxo-5-alpha-steroid 4-dehydrogenase activity	TAS
GO:0005515	Function	Protein binding	IPI	32296183, 33961781
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	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006702	Process	Androgen biosynthetic process	IBA
GO:0006702	Process	Androgen biosynthetic process	IEA
GO:0006702	Process	Androgen biosynthetic process	IEA
GO:0006702	Process	Androgen biosynthetic process	TAS
GO:0006706	Process	Steroid catabolic process	IEA
GO:0007267	Process	Cell-cell signaling	TAS	1944596
GO:0007548	Process	Sex differentiation	IEA
GO:0008202	Process	Steroid metabolic process	IEA
GO:0008209	Process	Androgen metabolic process	IDA	1944596
GO:0008209	Process	Androgen metabolic process	IEA
GO:0008584	Process	Male gonad development	IBA
GO:0008584	Process	Male gonad development	IEA
GO:0008584	Process	Male gonad development	IMP	1944596
GO:0009410	Process	Response to xenobiotic stimulus	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016627	Function	Oxidoreductase activity, acting on the CH-CH group of donors	IEA
GO:0018879	Process	Biphenyl metabolic process	IEA
GO:0018894	Process	Dibenzo-p-dioxin metabolic process	IEA
GO:0018963	Process	Phthalate metabolic process	IEA
GO:0021766	Process	Hippocampus development	IEA
GO:0021854	Process	Hypothalamus development	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0030539	Process	Male genitalia development	IEA
GO:0030539	Process	Male genitalia development	IEA
GO:0030540	Process	Female genitalia development	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0032354	Process	Response to follicle-stimulating hormone	IEA
GO:0033218	Function	Amide binding	IEA
GO:0033574	Process	Response to testosterone	IEA
GO:0043025	Component	Neuronal cell body	IBA
GO:0043025	Component	Neuronal cell body	IEA
GO:0043434	Process	Response to peptide hormone	IEA
GO:0047751	Function	3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activity	IDA	1944596
GO:0047751	Function	3-oxo-5-alpha-steroid 4-dehydrogenase (NADP+) activity	IEA
GO:0048545	Process	Response to steroid hormone	IEA
GO:0060348	Process	Bone development	IEA
GO:0061370	Process	Testosterone biosynthetic process	IDA	10898110
GO:0070852	Component	Cell body fiber	IEA
GO:1904614	Process	Response to biphenyl	IEA

Other IDs

• MIM: 607306
• HGNC: 11285
• e!Ensembl: ENSG00000277893

Protein

• UniProt ID: P31213
• Protein name: 3-oxo-5-alpha-steroid 4-dehydrogenase 2 (EC 1.3.1.22) (5 alpha-SR2) (SR type 2) (Steroid 5-alpha-reductase 2) (S5AR 2) (Type II 5-alpha reductase)
• Protein function: Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology. {ECO:0000269|PubMed:10
• PDB: 7BW1
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF02544	Steroid_dh	105 → 254	3-oxo-5-alpha-steroid 4-dehydrogenase	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in high levels in the prostate and many other androgen-sensitive tissues.
• Sequence:

  MQVQCQQSPVLAGSATLVALGALALYVAKPSGYGKHTESLKPAATRLPARAAWFLQELPS
  FAVPAGILARQPLSLFGPPGTVLLGLFCVHYFHRTFVYSLLNRGRPYPAILILRGTAFCT
  GNGVLQGYYLIYCAEYPDGWYTDIRFSLGVFLFILGMGINIHSDYILRQLRKPGEISYRI
  PQGGLFTYVSGANFLGEIIEWIGYALATWSLPALAFAFFSLCFLGLRAFHHHRFYLKMFE
  DYPKSRKALIPFIF

• Sequence length: 254

Pathways

KEGG:

Steroid hormone biosynthesis
Metabolic pathways
Prostate cancer

Reactome:

Androgen biosynthesis

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
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Pathogenic; Likely pathogenic	rs61748127, rs61750397, rs750444774, rs534671822, rs2148066893, rs121434244, rs587776566, rs121434245, rs121434246, rs121434247, rs121434248, rs587776567, rs121434249, rs121434250, rs121434251, rs121434253, rs9332964, rs2465708830, rs2465632802, rs1553323488, rs2465708766, rs2465708621, rs777711528, rs762483550, rs2465625746, rs2465625655, rs2465619515, rs747672984, rs2465619349, rs759561106, rs1477486919, rs1224600457, rs1667063572, rs2465708615, rs2465625779, rs2465624850, rs2465625226, rs2465628821, rs2465628816, rs2465708102, rs2465632611, rs2465708443, rs2465708465, rs566562286, rs1399412484, rs2465708568, rs2465633048, rs782032018, rs1057517829, rs368386747, rs1060499834, rs9332960, rs1553323036, rs772283403, rs748899308, rs759318152, rs9332961, rs9332967, rs763296857, rs1200261940, rs1340425455, rs201175894, rs1553329443, rs761824859, rs767564684, rs1553329427, rs1553323033, rs764433016, rs267599353, rs1665963551, rs1665904910, rs767595335, rs781214178, rs1186430097, rs1667066366	RCV003500502 RCV000686310 RCV001726693 RCV001726695 RCV001940208 RCV000003501 RCV000003502 RCV000003503 RCV000003504 RCV000003505 RCV000003506 RCV000003507 RCV000003508 RCV000003509 RCV000003510 RCV000003513 RCV000288398 RCV002465022 RCV003152662 RCV003317733 RCV003445401 RCV003459917 RCV003459918 RCV003459919 RCV003459920 RCV003459921 RCV003459922 RCV003459924 RCV003459925 RCV003501403 RCV003501684 RCV003501685 RCV003501687 RCV003501702 RCV003500145 RCV003500265 RCV003500323 RCV003607695 RCV003607838 RCV003607921 RCV003608399 RCV003608358 RCV003608409 RCV003608508 RCV003608554 RCV003608522 RCV003607036 RCV002523914 RCV003500527 RCV000545602 RCV000469192 RCV000500379 RCV000508957 RCV000529458 RCV000553178 RCV000548299 RCV000535535 RCV000546486 RCV000540681 RCV000534325 RCV000581936 RCV000583485 RCV000582682 RCV000583779 RCV000582093 RCV000583658 RCV000634581 RCV000660881 RCV000660891 RCV000664298 RCV000706218 RCV001030762 RCV000634579 RCV001175241 RCV001249472 RCV001249654 RCV001268947 RCV003500674 RCV002272440 RCV001726476	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Abnormality of the genitourinary system	Likely pathogenic; Pathogenic	rs121434245	RCV001813943	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autism spectrum disorder	Likely pathogenic; Pathogenic	rs9332964	RCV003313913	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Differences in sex development	Likely pathogenic; Pathogenic	rs121434249, rs764433016	RCV005865155 RCV005865384	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micropenis	Pathogenic; Likely pathogenic	rs104893667, rs9332964	RCV000003514 RCV000003515	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SRD5A2-related disorder	Likely pathogenic; Pathogenic	rs121434247, rs121434250, rs9332964, rs9332960, rs9332967	RCV004755704 RCV004755705 RCV003944795 RCV003403177 RCV004755953	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
46,XY DISORDER OF SEX DEVELOPMENT DUE TO 5-ALPHA-REDUCTASE 2 DEFICIENCY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANDROGENETIC ALOPECIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL PROSTATE CANCER	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOGONADISM	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPOSPADIAS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
IDIOPATHIC PULMONARY FIBROSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC HYPERPLASIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC HYPERTROPHY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SRD5A2 POLYMORPHISM	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TREATMENT-RESISTANT HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRICUSPID VALVE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UROGENITAL ABNORMALITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
XANTHINURIA, TYPE I	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
46, XY Disorders of Sex Development	46, XY disorder of sex development	BEFREE	18717241, 20583543, 20736251, 21631525, 22876553, 23513070, 25740850, 27051040, 27849622, 30815925, 31186340		★☆☆☆☆ Found in Text Mining only
46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	46, XY disorder of sex development	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
5-Alpha Reductase Deficiency	5-alpha reductase deficiency	BEFREE	1522235, 16098368, 20132346, 20511729, 21714467, 22001134, 29858846, 30269266, 31277073, 8262007		★☆☆☆☆ Found in Text Mining only
5-Alpha Reductase Deficiency	5-alpha reductase deficiency	CTD_human_DG	7554313		★☆☆☆☆ Found in Text Mining only
5-Alpha Reductase Deficiency	5-alpha reductase deficiency	ORPHANET_DG	8723114, 9497950		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	BEFREE	12670724, 17136762, 22509838		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	CTD_human_DG	17136762		★☆☆☆☆ Found in Text Mining only
Alopecia	Alopecia	GWASCAT_DG	28196072		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 1	Androgenetic Alopecia	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 2	Androgenetic Alopecia	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Alopecia, Androgenetic, 3	Androgenetic Alopecia	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	BEFREE	12670724		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	CTD_human_DG	17136762		★☆☆☆☆ Found in Text Mining only
Alopecia, Male Pattern	Alopecia, Male Pattern	GWASCAT_DG	27182965		★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	BEFREE	18097518, 18350250, 20349245, 22453073, 27086719, 29022558		★☆☆☆☆ Found in Text Mining only
Amenorrhea	Amenorrhea	Pubtator	20850730, 22001134, 36617173	Associate	★☆☆☆☆ Found in Text Mining only
Androgen Insensitivity Syndrome	Androgen insensitivity syndrome	Pubtator	24737579, 27849622, 31178538, 33602557	Associate	★☆☆☆☆ Found in Text Mining only
Androgen-Insensitivity Syndrome	Androgen-Insensitivity Syndrome	BEFREE	26197461		★☆☆☆☆ Found in Text Mining only
Androgenetic Alopecia	Androgenetic Alopecia	BEFREE	12670724, 21167691		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Androgenetic Alopecia	Androgenetic Alopecia	CTD_human_DG	17136762		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Androgenetic Alopecia	Androgenetic Alopecia	GWASCAT_DG	27182965		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Anemia Hemolytic	Hemolytic anemia	Pubtator	30942098	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	38287090	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Autistic Disorder	Autism	Pubtator	38287090	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	10368476		★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	21627373		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	11340572, 15136785, 15389785, 16018939, 16039774, 18495332, 18566991, 21627373, 23499746, 24606449, 25700986, 25735326, 26214411, 27197599, 29084161, 30708032		★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	CTD_human_DG	20823678		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	12100746, 14652280, 15212687, 24365257, 26345832		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	11259089, 12100746, 15212687, 15241822, 21761341, 24365257	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35196258, 35236335	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	18086758		★☆☆☆☆ Found in Text Mining only
Childhood Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia	BEFREE	30192066		★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital phimosis	Congenital Phimosis	BEFREE	29080015		★☆☆☆☆ Found in Text Mining only
Cortisone reductase deficiency	Cortisone reductase deficiency	Pubtator	18314109, 19342739, 20493473, 22453073, 23112260, 26453174, 29643321, 31031332, 31178538, 32713132, 35700942, 36834714	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	Pubtator	35700942	Associate	★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	16155734		★☆☆☆☆ Found in Text Mining only
Disorder of Sex Development 46 XY	46, xy disorder of sex development	Pubtator	15064320, 1522235, 16500352, 18097518, 18314109, 22272144, 24737579, 26492835, 27849622, 32985417, 35331321, 36617173, 36631813, 37147882, 39285472, 40043094, 9208814	Associate	★☆☆☆☆ Found in Text Mining only
Disorders of Sex Development	Disorders of sex development	Pubtator	18097518, 19342739, 22272144, 26980296, 27086719, 29022558, 29176693, 35135181, 35331321, 40043094	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	BEFREE	23200943, 29182028		★☆☆☆☆ Found in Text Mining only
Endometrial Carcinoma	Endometrial carcinoma	CTD_human_DG	23200943		★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial Neoplasms	LHGDN	12115497		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial Neoplasms	CTD_human_DG	23200943		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	29182028, 39205690	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrioma	Endometrioma	CTD_human_DG	21232532		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	21232532		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial prostate cancer	Prostate Cancer	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gonadal Dysgenesis	Gonadal Dysgenesis	BEFREE	18384427		★☆☆☆☆ Found in Text Mining only
Hepatitis B Chronic	Hepatitis b	Pubtator	37784175	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary pancreatitis	Hereditary Pancreatitis	BEFREE	12746845		★☆☆☆☆ Found in Text Mining only
Hyperandrogenism	Hyperandrogenism	Pubtator	26848581	Associate	★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	BEFREE	15266301, 20059664, 20215396, 20583543, 21511288, 21540559, 21714467, 23571770, 23729601, 27051040, 27848231, 28663096, 28713005, 29080015, 29723568, 30550360		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Hypospadias	LHGDN	16174723		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias	Hypospadias	Pubtator	20059664, 20850730, 23088992, 24281767, 31031332, 31219235, 32713132, 39249922	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypospadias, perineal	Hypospadias	BEFREE	30550360		★☆☆☆☆ Found in Text Mining only
Hypospadias, perineal	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias, perineal	Hypospadias	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	11698569, 18949357, 19956849, 20883676		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18949357		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	37784175	Associate	★☆☆☆☆ Found in Text Mining only
Male Pseudohermaphroditism	Male Pseudohermaphroditism	BEFREE	16098368, 18314109, 1944596, 8723114, 8768837, 9208814, 9467575		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	12100746, 14652280, 24365257, 26345832		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of endometrium	Endometrial Cancer	BEFREE	23200943		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of liver	Liver Cancer	BEFREE	12971967		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	18086758		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	10081907, 10325489, 10417059, 10469617, 10501358, 10606227, 11164181, 11303586, 11355945, 11381197, 11440959, 11588134, 11788959, 11847524, 12042668, 12210487, 12446983, 12539226, 12712437, 12746845, 12771801, 12869400, 12949937, 14560315, 14991867, 15326487, 15477877, 15711606, 16018939, 16039774, 16818707, 17108148, 17136762, 17220347, 17328668, 17376218, 17448593, 17785571, 17823934, 18268111, 18438175, 18469342, 18483391, 18495332, 18566991, 18780294, 19215786, 19505920, 19760631, 19914946, 20519274, 21177315, 23277398, 24277450, 25310105, 25735326, 25960412, 26092425, 26169017, 26214411, 27164191, 28323036, 28489754, 30703436, 31601057, 7664265		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	16998812, 17136762, 17823934, 18306354, 18500220		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12949937, 18640109, 20519274		★☆☆☆☆ Found in Text Mining only
Maternal hypertension	Maternal hypertension	BEFREE	23088992		★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome	Metabolic syndrome	Pubtator	29084161, 29523664	Associate	★☆☆☆☆ Found in Text Mining only
Metabolic Syndrome X	Metabolic Syndrome	BEFREE	26751392		★☆☆☆☆ Found in Text Mining only
Metastatic Prostate Carcinoma	Metastatic Prostate Carcinoma	BEFREE	26092425, 26169017, 26857022		★☆☆☆☆ Found in Text Mining only
Micropenis	Micropenis	BEFREE	12843198, 15266301, 20305676, 27051040		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Micropenis	Micropenis	CLINVAR_DG			★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Miscarriage	Miscarriage	BEFREE	28410957		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10081907, 10749132, 17328668, 18306354, 18566991		★☆☆☆☆ Found in Text Mining only
Nephroblastoma	Nephroblastoma	BEFREE	25434310		★☆☆☆☆ Found in Text Mining only
Nevus comedonicus	Nevus comedonicus	BEFREE	26848581		★☆☆☆☆ Found in Text Mining only
Oligospermia	Oligospermia	BEFREE	10368476		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	18086758		★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	18086758, 32590918	Associate	★☆☆☆☆ Found in Text Mining only
Penile hypospadias	Penile Hypospadias	BEFREE	15266301, 20059664, 20215396, 20583543, 21511288, 21540559, 23571770, 23729601, 27051040, 27848231, 28663096, 28713005, 29080015, 29723568, 30078147, 30550360		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	BEFREE	12843198, 15266301, 20305676, 27051040		★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Diseases	Vascular Diseases	BEFREE	19246976		★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	BEFREE	16849416, 30703436		★☆☆☆☆ Found in Text Mining only
Post-Traumatic Stress Disorder	Stress Disorder	BEFREE	23505265		★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 2	Hyperoxaluria	Pubtator	12110100, 16500352, 20850730, 22001134, 27849622, 32596280, 35135181	Associate	★☆☆☆☆ Found in Text Mining only
Primary hyperoxaluria type 2	Hyperoxaluria	Pubtator	27849622	Stimulate	★☆☆☆☆ Found in Text Mining only
Primary physiologic amenorrhea	Physiologic Amenorrhea	BEFREE	20850730, 22001134		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	BEFREE	12746845		★☆☆☆☆ Found in Text Mining only
Prostate cancer, familial	Prostate cancer	ORPHANET_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	10081907, 10325489, 10417059, 10469617, 10501358, 10606227, 11164181, 11303586, 11355945, 11381197, 11440959, 11588134, 11788959, 11847524, 12042668, 12210487, 12446983, 12539226, 12712437, 12746845, 12771801, 12869400, 12949937, 14560315, 14991867, 15326487, 15477877, 15711606, 16018939, 16039774, 16818707, 17108148, 17136762, 17220347, 17328668, 17376218, 17448593, 17785571, 17823934, 18268111, 18438175, 18469342, 18483391, 18495332, 18566991, 18780294, 19215786, 19505920, 19760631, 19914946, 20519274, 21177315, 23277398, 24277450, 25310105, 25735326, 25960412, 26092425, 26169017, 26214411, 27164191, 28323036, 28489754, 30703436, 31601057, 7664265		★☆☆☆☆ Found in Text Mining only
Prostatic Adenoma	Prostatic Adenoma	CTD_human_DG	20823678		★☆☆☆☆ Found in Text Mining only
Prostatic Diseases	Prostatic Diseases	BEFREE	16039774, 25700986		★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic Hyperplasia	LHGDN	12111704, 12771801, 15136785		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Hyperplasia	Prostatic Hyperplasia	CTD_human_DG	20823678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	21627373, 24606449, 25735326, 25916673, 29084161, 35821619, 36344974, 39492303	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Hypertrophy	Prostatic Hypertrophy	CTD_human_DG	20823678		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	BEFREE	10749132, 18623241, 19215786, 26332453		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	11381197, 11847524, 17823934, 18163429, 19443907, 23258647, 25598933, 25735326, 27164191, 29580149, 35293897	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12042668, 12210487, 12712437, 12738739, 12746845, 12771801, 12949937, 15326487, 15477877, 15538746, 16018939, 16039774, 17136762, 17376218, 17448593, 17823934, 18268111, 18469342, 18780294, 19215786		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	16998812, 17136762, 17823934, 18306354, 18500220		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Pseudohermaphroditism	Pseudohermaphroditism	BEFREE	18097518, 8723114		★☆☆☆☆ Found in Text Mining only
Pseudopelade	Pseudopelade	CTD_human_DG	17136762		★☆☆☆☆ Found in Text Mining only
Pseudovaginal Perineoscrotal Hypospadias	5-alpha reductase deficiency	UNIPROT_DG	10718838, 10898110, 10999800, 12843198, 15064320, 1522235, 15528927, 15770495, 16098368, 16181229, 7554313, 8626825, 8768837, 9208814, 9745434, 9843052		★☆☆☆☆ Found in Text Mining only
Pseudovaginal Perineoscrotal Hypospadias	5-alpha reductase deficiency	CLINVAR_DG	10898110, 11869378, 12576851, 12843198, 1406794, 14594182, 15064320, 1522235, 15266301, 15528927, 15770495, 17609295, 18314109, 19342739, 1944596, 19492581, 20019388, 20190539, 20493473, 20736251, 21147889, 21402750, 2154055, 21540559, 21631525, 22272144, 22453073, 22876553, 23329752, 23633205, 24665940, 25605705, 25899528, 26446026, 27070133, 27899157, 28544750, 7608269, 8110760, 8262007, 835597, 8706317, 8723114, 8784107, 9066886, 9135696, 9745434, 9843052		★☆☆☆☆ Found in Text Mining only
Pseudovaginal Perineoscrotal Hypospadias	5-alpha reductase deficiency	BEFREE	1522235, 16098368, 20132346, 20511729, 21714467, 22001134, 29858846, 30269266, 31277073, 8262007		★☆☆☆☆ Found in Text Mining only
Pseudovaginal Perineoscrotal Hypospadias	5-alpha reductase deficiency	CTD_human_DG	7554313		★☆☆☆☆ Found in Text Mining only
Pseudovaginal Perineoscrotal Hypospadias	5-alpha reductase deficiency	ORPHANET_DG	8723114, 9497950		★☆☆☆☆ Found in Text Mining only
Pseudovaginal Perineoscrotal Hypospadias	5-alpha reductase deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	20800085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	PSYGENET_DG	20800085		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sex Differentiation Disorders	Sex Differentiation Disorders	BEFREE	18717241, 20736251, 21402750, 30815925, 31055572, 31277073, 31613402		★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Turner Syndrome	BEFREE	18384427		★☆☆☆☆ Found in Text Mining only