Male Infertility disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: MLN007 MIFTS: 59	Male Infertility Categories: Endocrine diseases, Rare diseases, Reproductive diseases	Data Licensing For inquiries, contact: [email protected]
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Aliases & Classifications for Male Infertility

MalaCards integrated aliases for Male Infertility:

Name: Male Infertility ¹¹ ²⁸ ⁵ ⁴¹ ¹⁴ ¹⁶ ⁷¹ ⁷⁵ ³¹ ³³

Infertility, Male ⁴³ ³⁸

Absolute Infertility ³³

Infertility Male ⁵³

Male Sterility ³³

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³¹

Diseases of the genitourinary system

Diseases of male genital organs

Male infertility

ICD11: ³³

Diseases of the genitourinary system

Diseases of the male genital system

Male infertility

Male infertility, unspecified

Other specified male infertility

External Ids:

Disease Ontology ¹¹ DOID:12336

ICD9CM ³⁴ 606

MeSH ⁴³ D007248

SNOMED-CT ⁶⁸ 155924001

ICD10 ³¹ N46

EFO ¹⁶ EFO_0004248

ICD11 ³³ 753457327 753457327/other 753457327/unspecified

UMLS ⁷¹ C0021364

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Summaries for Male Infertility

MedlinePlus: ⁴¹ Infertility is a term doctors use if a man hasn't been able to get a woman pregnant after at least one year of trying. Causes of male infertility include: Physical problems with the testicles Blockages in the ducts that carry sperm Hormone problems A history of high fevers or mumps Genetic disorders Lifestyle or environmental factors About a third of the time, infertility is because of a problem with the man. One third of the time, it is a problem with the woman. Sometimes no cause can be found. If you suspect you are infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technology. Happily, many couples treated for infertility are able to have babies. NIH: National Institute of Child Health and Human Development

MalaCards based summary: Male Infertility, also known as infertility, male, is related to infertility and azoospermia, and has symptoms including subfertility, male, inability to conceive due to male infertility and inability to impregnate. An important gene associated with Male Infertility is FKBP6 (FKBP Prolyl Isomerase Family Member 6 (Inactive)), and among its related pathways/superpathways are Translational Control and Male infertility. The drugs Dydrogesterone and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include Testis, and related phenotypes are endocrine/exocrine gland and reproductive system

Wikipedia: ⁷⁵ Male infertility refers to a sexually mature male's inability to impregnate a fertile female. In humans... more...

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Related Diseases for Male Infertility

Diseases in the Male Infertility family:

Male Infertility Due to Acephalic Spermatozoa	Catsper1-Related Nonsyndromic Male Infertility
Male Infertility Due to Obstructive Azoospermia of Genetic Origin	Rare Male Infertility Due to Adrenal Disorder of Genetic Origin
Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder of Genetic Origin	Male Infertility Due to Sperm Motility Disorder
Male Infertility Due to Sperm Disorder	Male Infertility Due to Gonadal Dysgenesis or Sperm Disorder
Rare Male Infertility Due to Testicular Endocrine Disorder	Rare Male Infertility Due to Adrenal Disorder
Rare Male Infertility Due to Hypothalamic-Pituitary-Gonadal Axis Disorder	Rare Male Infertility
Male Infertility Due to Obstructive Azoospermia	Male Infertility Due to Gonadal Dysgenesis

Diseases related to Male Infertility via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 613)

#	Related Disease	Score	Top Affiliating Genes
1	infertility	33.4	USP26 SEMG1 PRM2 PRM1 PIWIL1 H2BW1
2	azoospermia	33.3	USP26 PRM2 PRM1 PIWIL1 HORMAD1 GALNTL5
3	spermatogenic failure 9	33.3	PRM2 GALNTL5 EPPIN
4	vas deferens, congenital bilateral aplasia of	32.9	USP26 PRM2 CFTR
5	spermatogenic failure, x-linked, 1	32.8	USP26 PRM2 EPPIN DAZL BOLL
6	oligospermia	32.7	USP26 PRM2 HOXD13 EPPIN DAZL DAZ4
7	partial deletion of y	32.7	DAZ4 DAZ1
8	spermatogenic failure	32.6	DAZL DAZ4 DAZ1
9	spermatogenic failure, y-linked, 2	32.5	H2BW1 DAZL DAZ4 DAZ1 CFTR BOLL
10	oligoasthenoteratozoospermia	32.5	PRM2 PRM1
11	cryptorchidism, unilateral or bilateral	31.8	PRM2 FSHR EPPIN DAZL CFTR
12	prostatic cyst	30.8	FSHR EPPIN
13	embryonal testis carcinoma	30.6	EPPIN DAZL
14	kartagener syndrome	30.5	ODAD2 DNAH5 CFTR
15	disorder of sexual development	30.3	FSHR EPPIN DAZL
16	spermatogenic failure 5	11.8
17	deafness-infertility syndrome	11.8
18	catsper1-related nonsyndromic male infertility	11.6
19	male infertility with teratozoospermia due to single gene mutation	11.6
20	non-syndromic male infertility due to sperm motility disorder	11.6
21	spermatogenic failure 6	11.6
22	heterotaxy, visceral, 10, autosomal, with male infertility	11.6
23	heterotaxy, visceral, 11, autosomal, with male infertility	11.6
24	heterotaxy, visceral, 9, autosomal, with male infertility	11.5
25	male infertility due to acephalic spermatozoa	11.5
26	male infertility with azoospermia or oligozoospermia due to single gene mutation	11.5
27	male infertility due to obstructive azoospermia	11.4
28	rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	11.4
29	rare male infertility due to hypothalamic-pituitary-gonadal axis disorder	11.4
30	spermatogenic failure 7	11.4
31	spermatogenic failure 17	11.4
32	male infertility due to sperm motility disorder	11.3
33	male infertility with spermatogenesis disorder	11.3
34	catsper-related male infertility	11.3
35	male infertility with spermatogenesis disorder due to single gene mutation	11.3
36	male infertility due to obstructive azoospermia of genetic origin	11.3
37	male infertility due to gonadal dysgenesis or sperm disorder	11.3
38	spermatogenic failure, x-linked, 2	11.3
39	male infertility due to gonadal dysgenesis	11.3
40	spermatogenic failure 56	11.3
41	spermatogenic failure 61	11.3
42	spermatogenic failure 64	11.3
43	spermatogenic failure 54	11.2
44	spermatogenic failure 55	11.2
45	spermatogenic failure 57	11.2
46	spermatogenic failure 59	11.2
47	spermatogenic failure 60	11.2
48	spermatogenic failure 62	11.2
49	spermatogenic failure 63	11.2
50	spermatogenic failure 65	11.2

Graphical network of the top 20 diseases related to Male Infertility:

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Symptoms & Phenotypes for Male Infertility

UMLS symptoms related to Male Infertility:

subfertility, male; inability to conceive due to male infertility; inability to impregnate

GenomeRNAi Phenotypes related to Male Infertility according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.19	BOLL CFTR CLDN2 DAZ1 DAZ4 DAZL
2	no effect	GR00402-S-2	10.19	BOLL CFTR DAZ1 DAZ4 DAZL DNAH5

MGI Mouse Phenotypes related to Male Infertility:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland	MP:0005379	9.77	BOLL CFTR DAZ1 DAZ4 DAZL DNAH5
2	reproductive system	MP:0005389	9.55	BOLL CFTR DAZ1 DAZ4 DAZL EPPIN

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Drugs & Therapeutics for Male Infertility

Drugs for Male Infertility (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 170)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Dydrogesterone

Approved, Investigational, Withdrawn

Phase 4

152-62-5

9051

Progesterone

Approved, Vet_approved

Phase 4

57-83-0

5994

Bupivacaine

Approved, Investigational

Phase 4

2180-92-9, 38396-39-3

2474

Estradiol

Approved, Investigational, Vet_approved

Phase 4

50-28-2

5757

Polyestradiol phosphate

Approved

Phase 4

28014-46-2

Hyaluronic acid

Approved, Vet_approved

Phase 4

9004-61-9

53477741

Dimenhydrinate

Approved

Phase 4

523-87-5

10660

Arginine

Approved, Investigational, Nutraceutical

Phase 4

74-79-3

6322

Hormones

Phase 4

Hormone Antagonists

Phase 4

Protective Agents

Phase 4

Estrogens

Phase 4

Estrogen Receptor Antagonists

Phase 4

Estrogen Antagonists

Phase 4

Anesthetics, Local

Phase 4

Estradiol 3-benzoate

Phase 4

Estradiol 17 beta-cypionate

Phase 4

Immunologic Factors

Phase 4

Progestins

Phase 4

Adjuvants, Immunologic

Phase 4

Viscosupplements

Phase 4

Contraceptive Agents

Phase 4

Aromatase Inhibitors

Phase 4

Ginseng

Investigational, Nutraceutical

Phase 4

50647-08-0

Methyltestosterone

Approved

Phase 3

58-18-4

6010

Testosterone undecanoate

Approved, Investigational

Phase 3

5949-44-0

21873174 65157

Testosterone enanthate

Approved

Phase 3

315-37-7

9416

Ginger

Approved

Phase 3

Sofosbuvir

Approved

Phase 2, Phase 3

1190307-88-0

45375808

Simeprevir

Approved

Phase 2, Phase 3

923604-59-5

66811198 24873435 66576988

Ribavirin

Approved

Phase 2, Phase 3

36791-04-5

37542

Cholecalciferol

Approved, Nutraceutical, Vet_approved

Phase 2, Phase 3

67-97-0, 1406-16-2

5280795 10883523

Calcifediol

Approved, Nutraceutical

Phase 2, Phase 3

19356-17-3

5283731

Testosterone 17 beta-cypionate

Phase 3

Follicle Stimulating Hormone

Phase 2, Phase 3

Calciferol

Phase 2, Phase 3

Calcium, Dietary

Phase 2, Phase 3

Hematinics

Phase 3

Anti-Infective Agents

Phase 2, Phase 3

HIV Protease Inhibitors

Phase 2, Phase 3

protease inhibitors

Phase 2, Phase 3

Antimetabolites

Phase 2, Phase 3

Antiviral Agents

Phase 2, Phase 3

Calcium

Nutraceutical

Phase 2, Phase 3

7440-70-2

271

Selenium

Approved, Investigational, Vet_approved

Phase 2

7783-07-5, 7782-49-2

533

Lycopene

Approved, Investigational

Phase 2

502-65-8

446925

Duloxetine

Approved

Phase 2

136434-34-9, 116539-59-4

60835

Dopamine

Approved

Phase 2

62-31-7, 51-61-6

681

Norepinephrine

Approved

Phase 2

51-41-2

439260

Calcium polycarbophil

Approved

Phase 2

126040-58-2

Interventional clinical trials:

(show top 50) (show all 174)

#	Name	Status	NCT ID	Phase	Drugs
1	Oxidative Stress In Semen And Male Infertility	Unknown status	NCT03464656	Phase 4	Fairhaven Pro for men
2	Comparison of Oral Dydrogesterone Versus Micronized Vaginal Progesterone for Luteal Phase Support in Frozen-thawed Embryo Transfer Cycles: a Randomized Controlled Trial	Unknown status	NCT04124913	Phase 4	Dydrogesterone 10 MG Oral Tablet;Progesterone Vaginal Gel [Crinone]
3	Role of FSHR Polymorphism p.N680S in the Therapy With FSH in Patients Who Underwent Varicocele Surgery	Unknown status	NCT02719093	Phase 4	recombinant FSH
4	Effects of Korean Red Ginseng on Male Infertility	Completed	NCT02202382	Phase 4	Korean Red Ginseng, Varicocelectomy;Placebo
5	Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study	Completed	NCT02204826	Phase 4	Korean Red Ginseng (KRG)
6	Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine	Completed	NCT03802864	Phase 4	Liposomal Bupivacaine;Standard Bupivacaine
7	To Define the Individual Need of Exogenous LH During Ovarian Stimulation for Severe LH Suppressed Patients After Administration of a GnRH Antagonist	Completed	NCT01936077	Phase 4	Recombinant LH (Luveris)
8	Evaluation of Sperm Selection Technique Using Hyaluronic Acid Binding in Intra-cytoplasmic Sperm Injection (ICSI)	Completed	NCT03999372	Phase 4
9	A Randomized Controlled Study to Compare the Outcome of Two Protocols Used to Prepare the Endometrium for Frozen Embryo Transfer	Completed	NCT04507022	Phase 4	Estradiol Valerate;Progesterone;Aromatase inhibitor
10	Anti-oxidative Influence From Pomegranate Tablets on Male Sperm Quality in Couples Undergo Infertility Treatments Due to Male Infertility.	Unknown status	NCT01918163	Phase 3
11	7 NUTS Study . A Randomized Dietary Intervention Trial on the Influence of Diet on Human Sperm Quality in Subfertile Men.	Unknown status	NCT02063256	Phase 2, Phase 3
12	Effect of Red and White Bahman on Semen Parameters,Testosteron ,LH, FSH and Defragmentation of DNA . A Double Blind Randomised Clinical Trial (Phase 3)	Unknown status	NCT02998593	Phase 3	Bahman capsules;Placebo
13	Assessment of the Efficacy of Dietary Supplement Spermotrend in the Treatment of Male Infertility	Completed	NCT00975117	Phase 3
14	Significance of the FSH Receptor Polymorphism p.N680S for the Efficacy of FSH Therapy of Idiopathic Male Infertility: a Pharmacogenetic Approach	Completed	NCT02349945	Phase 2, Phase 3	follitropin alpha
15	A Randomized Control Trial of the Menevit Anti-Oxidant Therapy for the Treatment of Male Infertility	Completed	NCT00100269	Phase 3	Menevit anti-oxidant
16	Vitamin D Supplementation and Male Infertility: The Copenhagen Bone-Gonadal Study a Double Blinded Randomized Clinical Trial	Completed	NCT01304927	Phase 2, Phase 3	Cholecalciferol and calcium
17	Impact of Folates in the Care of the Male Infertility	Completed	NCT01407432	Phase 3	Folic acid;placebo of folic acid
18	Phase 3 of Study on Effects of New Herbal Mixture on Men Infertility	Completed	NCT01895816	Phase 3
19	Effect of New Oral Treatment for Hepatitis C Virus on Seminal Parameters	Recruiting	NCT05616598	Phase 2, Phase 3	Sofosbuvir +daclatasvir+ simeprevir+Ribavirin
20	The Effectiveness of the Spermotrend Food Supplement in the Treatment of Male Infertility and Benign Prostatic Hyperplasia	Active, not recruiting	NCT05222841	Phase 2, Phase 3
21	Pilot Study on the Effects of FSH Treatment on the Epigenetic Characteristics of Spermatozoa in Infertile Patients With Severe Oligozoospermia	Terminated	NCT02605070	Phase 3	Bravelle
22	PHASE 2b RANDOMIZED, PARALLEL, DOUBLE-BLIND, PLACEBO-CONTROLLED EXPLORATORY STUDY TO EVALUATE THE EFFICACY OF ANDROXAL IN IDIOPATHIC MALE INFERTILITY (PROTOCOL #01-14-40-08)	Withdrawn	NCT02160704	Phase 2, Phase 3	Enclomiphene citrate
23	Does a GnRH Agonist Given at Embryo Transfer Improve Clinical Pregnancy and Live Birth Rates of Women Undergoing In-Vitro Fertilization?	Withdrawn	NCT03544073	Phase 3	Saline Solution for Injection;Leuprolide Acetate
24	Intra-Testicular Transplantation of Purified Autologous Clusters of Differentiation (CD) 34+,133+, and Mesenchymal Stem Cells for Treatment of Non-Obstructive Azoospermia Male Infertility.	Unknown status	NCT02641769	Phase 1, Phase 2
25	Using of Bone Marrow Derived Mesenchymal Stem Cells For Treatment of Azoospermic Patients	Unknown status	NCT02025270	Phase 1, Phase 2
26	Denosumab and Male Infertility: a Prospective Intervention Study	Completed	NCT02422108	Phase 2	Denosumab
27	A Pilot Trial of 13-cis Retinoic Acid (Isotretinoin) for the Treatment of Men With Azoospermia	Completed	NCT03323801	Phase 2	13-cis retinoic acid
28	A Pilot Trial of 13-cis Retinoic Acid (Isotretinoin) for the Treatment of Men With Oligoasthenoteratozoospermia	Completed	NCT02061384	Phase 2	13-cis retinoic acid;Calcitriol
29	Clomiphene Citrate for the Treatment of Opioid-Induced Androgen Deficiency: Randomized Controlled Clinical Trial	Completed	NCT01880086	Phase 2	Clomiphene citrate;Placebo
30	Males, Antioxidants, and Infertility (MOXI) Trial	Completed	NCT02421887	Phase 2	Antioxidant Supplement
31	Impact of Duloxetine on Male Fertility	Completed	NCT03038867	Phase 2	Duloxetine;Placebo
32	The Therapeutic Effects of Bu Shen Yi Jing Pill on Semen Quality in Sub Fertile Males: a Randomized Controlled Trial	Recruiting	NCT05290558	Phase 2	Bu Shen Yi Jing Pill;Placebo Drug
33	Comparison of the Efficacy of the Tamoxifen and Tamoxifen With Antioxidants on Semen Quality of Infertile Male With Abnormal Semen Parameters.	Recruiting	NCT05200663	Phase 2	Tab Tamoxifen 10 mg;Tab Tamoxifen 10mg,Cap vitamin E 400mg
34	Assessing the Impact of Escitalopram on Sperm DNA Fragmentation: A Randomized Placebo Controlled	Recruiting	NCT03527043	Phase 2	Escitalopram
35	Effect of a Single-dose Denosumab on Semen Quality in Infertile Men (FITMI): A Randomized Controlled Trial	Recruiting	NCT05212337	Phase 2	Denosumab;Sodium chloride
36	Denosumab and Male Infertility: a Randomized Controlled Double-blinded Intervention Study	Active, not recruiting	NCT03030196	Phase 2	Denosumab
37	Employing a Single Step Media Can Improve the Clinical Outcomes in Those Patient Who Usually Show an High Cycle Cancellation Rate?	Unknown status	NCT02575924	Phase 1	sequential medium;1-step medium
38	Choline Dehydrogenase and Sperm Function: Effects of Betaine	Completed	NCT02122211	Phase 1	Betaine supplement
39	A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers	Completed	NCT01595308	Phase 1
40	Can Yeast Cells Emulate Vitamin E on In-vitro Protection of Human Spermatozoa Against Oxidative Stress?	Completed	NCT02814695	Phase 1
41	Omega-3 Polyunsaturated Fatty Acids for the Treatment of Patients With Idiopathic Oligoasthenoteratospermia: A Double-blind, Placebo-controlled and Randomized Exploratory Clinical Trial	Recruiting	NCT03634644	Phase 1	Omega 3 fatty acid;Placebo oral capsule
42	Role of Nutritional Support in Idiopathic Male Infertility: a Randomized Dietary Study	Unknown status	NCT03588949
43	Proposed Research Protocol For Male Infertility	Unknown status	NCT01255397
44	Modern Analyses of the Semen in Evaluating Male Fertility and Treatment Options of Male Infertility	Unknown status	NCT02932865
45	Treatment of Severe Male Infertility - Predictive Factors (Imaging)	Unknown status	NCT02931721
46	Can Myo-inositol in Combination With N-Acetyl-Cysteine Plus an Antioxidant Mix be Useful for the Management of Men Affected by Idiopathic Infertility and Semen Hyperviscosity?	Unknown status	NCT03726450
47	Epigenetic and Genetic Effects in Cancer Patients: Analysis Pre and After Treatment	Unknown status	NCT04200118
48	Oxidative Stress, Vitamin E and Lipidomics in Seminal Fluid as Potential Link to Infertility	Unknown status	NCT02062229
49	Evaluation of Treatment With Trans-resveratrol, Folic Acid, Vitamin D, Vitamin B12 and B6 in Men With Infertility	Unknown status	NCT03864198
50	Relationship Between Nitric Oxide (NO) in Follicular Fluid and Sperm Fertilization Ability	Unknown status	NCT03307655

Search NIH Clinical Center for Male Infertility

Inferred drug relations via UMLS ⁷¹ / NDF-RT ⁵⁰ :

Clomiphene

Clomiphene Citrate

Cochrane evidence based reviews: infertility, male

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Genetic Tests for Male Infertility

Genetic tests related to Male Infertility:

#	Genetic test	Affiliating Genes
1	Male Infertility ²⁸

Sources

Anatomical Context for Male Infertility

Organs/tissues related to Male Infertility:

MalaCards : Testis, Bone Marrow, Testes, Liver, Bone, Spinal Cord, Prostate

Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Male Infertility:

#	Tissue Anatomical CompartmentCell	Relevance
1	Testis Seminiferous Tubules Elongated Spermatid	Affected by disease
2	Testis Seminiferous Tubules Spermatid	Affected by disease
3	Testis Seminiferous Tubules Spermatozoan	Affected by disease

Sources

Publications for Male Infertility

Articles related to Male Infertility:

(show top 50) (show all 14470)

#	Title	Authors	PMID	Year
1	Transcriptome analyses in infertile men reveal germ cell-specific expression and splicing patterns. ⁶² ⁴¹	Siebert-Kuss LM...Laurentino S	36446526	2023
2	Safety and efficacy of acupuncture for varicocele-induced male infertility: a systematic review protocol. ⁶² ⁴¹	Wang S...Tang Z	36456023	2022
3	Does severe hypoxia during irradiation of Aedes aegypti pupae improve sterile male performance? ⁶² ⁴¹	Tussey DA...Hahn DA	36443811	2022
4	DJ-1 is critical for mitochondrial function and rescues PINK1 loss of function. ⁵³ ⁶²	Hao LY...Bonini NM	20457924	2010
5	The SLC19A1 80G>A polymorphism is not associated with male infertility. ⁵³ ⁶²	Kurzawski M...Drozdzik M	20233025	2010
6	Follicle-stimulating hormone receptor gene haplotypes and male infertility in estonian population and meta-analysis. ⁵³ ⁶²	Lend AK...Salumets A	20170288	2010
7	[Azoospermia factor and male infertility]. ⁵³ ⁶²	Zhang HJ...Jin BF	20369704	2010
8	[MTHFR gene polymorphism and male infertility]. ⁵³ ⁶²	Li SS...Li J	20180408	2010
9	FSHR single nucleotide polymorphism frequencies in proven fathers and infertile men in Southeast Turkey. ⁵³ ⁶²	Balkan M...Budak T	20454649	2010
10	New Strategy of Functional Analysis of PHGPx Knockout Mice Model Using Transgenic Rescue Method and Cre-LoxP System. ⁵³ ⁶²	Imai H	20104259	2010
11	CAG repeat variation in the mtDNA polymerase gamma is not associated with oligoasthenozoospermia. ⁵³ ⁶²	Rani DS...Thangaraj K	18798765	2009
12	Depletion of selenoprotein GPx4 in spermatocytes causes male infertility in mice. ⁵³ ⁶²	Imai H...Nakagawa Y	19783653	2009
13	Absence of the exon 1 coding sequence of the androgen receptor gene associated with teratozoospermia in a Brazilian population. ⁵³ ⁶²	Mesquita WE...Jesuino RS	19937586	2009
14	TSPY1 copy number variation influences spermatogenesis and shows differences among Y lineages. ⁵³ ⁶²	Giachini C...Krausz C	19773397	2009
15	[Association of male infertility with (CAG)n polymorphism of the androgen receptor gene: a meta-analysis]. ⁵³ ⁶²	Li Y...Wu TX	19947564	2009
16	MTHFR promoter hypermethylation in testicular biopsies of patients with non-obstructive azoospermia: the role of epigenetics in male infertility. ⁵³ ⁶²	Khazamipour N...Pujol P	19477879	2009
17	Use of the aromatase inhibitor letrozole to treat male infertility. ⁵³ ⁶²	Patry G...Lo KC	19524225	2009
18	Estrogen receptor beta gene mutations in Indian infertile men. ⁵³ ⁶²	Khattri A...Thangaraj K	19509112	2009
19	A386G polymorphism of the DAZL gene is not associated with idiopathic male infertility in North India. ⁵³ ⁶²	Singh K...Raman R	19881148	2009
20	Posttranscriptional regulation of CDC25A by BOLL is a conserved fertility mechanism essential for human spermatogenesis. ⁵³ ⁶²	Lin YM...Cheng YS	19417033	2009
21	Androgen receptor roles in spermatogenesis and fertility: lessons from testicular cell-specific androgen receptor knockout mice. ⁵³ ⁶²	Wang RS...Chang C	19176467	2009
22	Inhibition of androgen receptor transcriptional activity as a novel mechanism of action of arsenic. ⁵³ ⁶²	Rosenblatt AE...Burnstein KL	19131511	2009
23	[The investigation of the relationship between the phenotypes of 46, XX males and the SRY gene]. ⁵³ ⁶²	Wang YP...Jiang WH	19199262	2009
24	USP26 gene variations in fertile and infertile men. ⁵³ ⁶²	Ribarski I...Kleiman SE	18927127	2009
25	CA repeat and RsaI polymorphisms in ERbeta gene are not associated with infertility in Indian men. ⁵³ ⁶²	Khattri A...Thangaraj K	17916182	2009
26	[Update of the studies on epididymal oxidative stress]. ⁵³ ⁶²	Liu X...Li JY	19323379	2009
27	Single nucleotide polymorphism analysis of the follicle-stimulating hormone (FSH) receptor in Japanese with male infertility: identification of codon combination with heterozygous variations of the two discrete FSH receptor gene. ⁵³ ⁶²	Shimoda C...Namiki M	19550076	2009
28	Massive deletion in AZFb/b+c and azoospermia with Sertoli cell only and/or maturation arrest. ⁵³ ⁶²	Yang Y...Zhang SZ	17877719	2008
29	The contribution of different androgen receptor domains to receptor dimerization and signaling. ⁵³ ⁶²	Centenera MM...Butler LM	18617596	2008
30	Animal models of chronic lung infection with Pseudomonas aeruginosa: useful tools for cystic fibrosis studies. ⁵³ ⁶²	Kukavica-Ibrulj I...Levesque RC	18782827	2008
31	[Genetic causes of male infertility]. ⁵³ ⁶²	Xia XY...Huang YF	19004117	2008
32	Sequence analysis of the X-linked USP26 gene in severe male factor infertility patients and fertile controls. ⁵³ ⁶²	Christensen GL...Carrell DT	18377898	2008
33	The AZF proteins. ⁵³ ⁶²	Vogt PH...Zimmer J	18462373	2008
34	Androgen receptor gene haplotype is associated with male infertility. ⁵³ ⁶²	Saare M...Salumets A	17651405	2008
35	Androgen insensitivity syndrome: clinical features and molecular defects. ⁵³ ⁶²	Galani A...Kalpini-Mavrou A	18694860	2008
36	Molecular analysis of mutations and polymorphisms in the CFTR gene in male infertility. ⁵³ ⁶²	Tamburino L...Chamayou S	18616886	2008
37	Genetic diagnosis in infertile men with numerical and constitutional sperm abnormalities. ⁵³ ⁶²	Cinar C...Guney AI	18554162	2008
38	Detailed functional studies on androgen receptor mild mutations demonstrate their association with male infertility. ⁵³ ⁶²	Zuccarello D...Foresta C	17970778	2008
39	Identification of new breakpoints in AZFb and AZFc. ⁵³ ⁶²	Costa P...Barros A	18326547	2008
40	[Molecular cytogenetic studies of 25 males with azoospermia]. ⁵³ ⁶²	Ge YS...Wu HN	18393244	2008
41	Screening of 'Y' chromosome microdeletions in Iranian infertile males. ⁵³ ⁶²	Malekasgar AM...Mombaini H	19562056	2008
42	A386G transition in DAZL gene is not associated with spermatogenic failure in Tamil Nadu, South India. ⁵³ ⁶²	Poongothai J...Manonayaki S	20300286	2008
43	Novel mutations in ubiquitin-specific protease 26 gene might cause spermatogenesis impairment and male infertility. ⁵³ ⁶²	Zhang J...Zhang QY	17968467	2007
44	Male infertility and variation in CAG repeat length in the androgen receptor gene: a meta-analysis. ⁵³ ⁶²	Davis-Dao CA...Cortessis VK	17684052	2007
45	Structural diversity and evolution of the Rf-1 locus in the genus Oryza. ⁵³ ⁶²	Kato H...Akagi H	17622268	2007
46	[Screening for the microdeletions of azoospermia factor on the Y chromosome in male infertile patients from Guangzhou]. ⁵³ ⁶²	Liu YF...Wang ZL	17922428	2007
47	Selenium in mammalian spermiogenesis. ⁵³ ⁶²	Flohe L	17937612	2007
48	[Autosomal DAZL single nucleotide polymorphisms not associated with male infertility in northeast China]. ⁵³ ⁶²	Wen XH...Wu W	17918711	2007
49	Reversal of idiopathic hypogonadotropic hypogonadism. ⁵³ ⁶²	Raivio T...Pitteloud N	17761590	2007
50	[The analysis of CFTR mutations in men with azoospermia, oligozoospermia and asthenozoospermia]. ⁵³ ⁶²	Slezak R...Czemarmazowicz H	18050608	2007

Sources

Genes for Male Infertility

Genes related to Male Infertility (7 elite genes):

(show top 50) (show all 181)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FKBP6	FKBP Prolyl Isomerase Family Member 6 (Inactive)	Protein Coding	439.2	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
2	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	437.99	Pathogenic ⁵ DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	9678705 10200050 11471192 (more) 17580535 16572913 9620832 18616886 9692018 16272798 11788091 17519339 10653141 12503104 18554162 19004117 14965334 14685937 12660625 9499426 9239681 7739684 12810986 11101688 9725922 16418321 15905293 15379964 14567084 11097434 10601093 16714368 15705292 15239534 18782827 16128988 9466061 9078271 11173952 11756355 18050608
3	ODAD2	Outer Dynein Arm Docking Complex Subunit 2	Protein Coding	430.58	Pathogenic ⁵ Likely pathogenic ⁵ DISEASES inferred ¹⁴
4	HORMAD1	HORMA Domain Containing 1	Protein Coding	413.6	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Pathways & Interactions (show sections)
5	CLDN2	Claudin 2	Protein Coding	411.05	Pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
6	DNAH5	Dynein Axonemal Heavy Chain 5	Protein Coding	406.81	Pathogenic ⁵ DISEASES inferred ¹⁴
7	HOXD13	Homeobox D13	Protein Coding	400	Pathogenic ⁵
8	DAZL	Deleted In Azoospermia Like	Protein Coding	42.87	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Pathways & Interactions (show sections)	9143498 16844779 9294855 (more) 16573709 17918711 8968756 19881148 10819768 20300286 15705295 16123080
9	EPPIN	Epididymal Peptidase Inhibitor	Protein Coding	39.59	DISEASES inferred ¹⁴ ¹⁴ GeneCards inferred via : Publications Summaries Pathways & Interactions (show sections)
10	DAZ1	Deleted In Azoospermia 1	Protein Coding	38.21	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Pathways & Interactions (show sections)	9294855 9321470 16078663 (more) 10819768 11095434 15066457 8636331 11263480 15744033 11294825 8968756 15265388 10402373 11694340 11688365 10469697
11	PRM2	Protamine 2	Protein Coding	35.29	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Pathways & Interactions (show sections)	15705617 16871843 12569175 (more) 8328025 16403801
12	USP26	Ubiquitin Specific Peptidase 26	Protein Coding	34.87	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	17968467 18377898 15970005 (more) 16888075 18927127
13	PRM1	Protamine 1	Protein Coding	34.62	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Pathways & Interactions (show sections)	12771233 16871843 16403801
14	DAZ4	Deleted In Azoospermia 4	Protein Coding	34.61	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Pathways & Interactions (show sections)	11604102
15	BOLL	Boule Homolog, RNA Binding Protein	Protein Coding	33.31	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9486791 10819768 9294855 (more) 9321470 10857750 8968756 19417033
16	FSHR	Follicle Stimulating Hormone Receptor	Protein Coding	33.1	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	19550076 20454649 10022448 (more) 14965334 20170288 17161332
17	H2BW1	H2B.W Histone 1	Protein Coding	32.78	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries Pathways & Interactions (show sections)
18	PIWIL1	Piwi Like RNA-Mediated Gene Silencing 1	Protein Coding	32.76	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications Pathways & Interactions (show sections)
19	GALNTL5	Polypeptide N-Acetylgalactosaminyltransferase Like 5	Protein Coding	30.78	Likely pathogenic ⁵ DISEASES inferred ¹⁴
20	SEMG1	Semenogelin 1	Protein Coding	30.56	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications Pathways & Interactions (show sections)	9850738 12632094
21	SOX30	SRY-Box Transcription Factor 30	Protein Coding	30.54	Likely pathogenic ⁵ DISEASES inferred ¹⁴
22	BRWD1	Bromodomain And WD Repeat Domain Containing 1	Protein Coding	29.7	Likely pathogenic ⁵ DISEASES inferred ¹⁴
23	DAZ2	Deleted In Azoospermia 2	Protein Coding	26.5	GeneCards inferred via : Disorders Publications Pathways & Interactions (show sections)
24	DAZ3	Deleted In Azoospermia 3	Protein Coding	26.31	GeneCards inferred via : Disorders Publications Pathways & Interactions (show sections)
25	USP9Y	Ubiquitin Specific Peptidase 9 Y-Linked	Protein Coding	25.4	Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	10402373 11294825
26	DDX3Y	DEAD-Box Helicase 3 Y-Linked	Protein Coding	24.87	Novoseek inferred ⁵³ GeneCards inferred via : Publications Summaries (show sections)	11294825
27	AZF1	Azoospermia Factor 1	Genetic Locus	24.83	Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11732229 11139528 20369704 (more) 10767340 15845593 12490058 17204527 12900510 15149464 17762975 19562056 17877719 18462373 17478930 11071455 18393244 17922428 18326547 10230814 18270942 9100576 12508125 9692017 16572913 16483836
28	CATSPER2	Cation Channel Sperm Associated 2	Protein Coding	24.55	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
29	TNP2	Transition Protein 2	Protein Coding	24.5	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16967499
30	DNAH1	Dynein Axonemal Heavy Chain 1	Protein Coding	24.42	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
31	AR	Androgen Receptor	Protein Coding	24.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12399527 19004117 10711573 (more) 17970778 11079451 15705293 19947564 16400085 2287116 10935543 17054461 17684052 18617596 7489816 17334586 14965334 10976396 10607837 9829547 19131511 19937586 19176467 16042361 15337466 15044606 12220434 9788719 15888966 17651405 12638777 18694860 9733433 10956560 11397858
32	SPO11	SPO11 Initiator Of Meiotic Double Stranded Breaks	Protein Coding	23.83	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
33	DDX4	DEAD-Box Helicase 4	Protein Coding	23.8	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
34	TNP1	Transition Protein 1	Protein Coding	23.68	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	16291974
35	PIWIL2	Piwi Like RNA-Mediated Gene Silencing 2	Protein Coding	22.85	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
36	DNAJB13	DnaJ Heat Shock Protein Family (Hsp40) Member B13	Protein Coding	22.79	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
37	STAG3	Stromal Antigen 3	Protein Coding	22.7	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
38	ZMYND15	Zinc Finger MYND-Type Containing 15	Protein Coding	22.64	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
39	MOV10L1	Mov10 Like RISC Complex RNA Helicase 1	Protein Coding	22.31	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
40	SYCP1	Synaptonemal Complex Protein 1	Protein Coding	22.13	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	9436675
41	PRSS37	Serine Protease 37	Protein Coding	22.09	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
42	MNS1	Meiosis Specific Nuclear Structural 1	Protein Coding	22.02	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
43	RNF212	Ring Finger Protein 212	Protein Coding	22.01	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
44	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	21.95	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15650046 11687794 18798765 (more) 14688158 15913923 14965334 16970152 15356024
45	CCNA1	Cyclin A1	Protein Coding	21.9	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
46	GPX4	Glutathione Peroxidase 4	Protein Coding	21.77	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	20104259 12193409 19783653 (more) 17937612 15705374
47	CLU	Clusterin	Protein Coding	21.69	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)
48	ACR	Acrosin	Protein Coding	21.35	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	15652894 16145435
49	INHA	Inhibin Subunit Alpha	Protein Coding	21.29	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Summaries (show sections)
50	PRM3	Protamine 3	Protein Coding	21.28	DISEASES inferred ¹⁴ GeneCards inferred via : Publications Pathways & Interactions (show sections)

Sources

Variations for Male Infertility

ClinVar genetic disease variations for Male Infertility:

⁵ (show top 50) (show all 52)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	overlap with 38 genes	GRCh37/hg19 Yq11.222-11.23(chrY:20608554-28799937)x0	CN LOSS	Pathogenic	870512		GRCh37: Y:20608554-28799937 GRCh38:
2	overlap with 17 genes	GRCh37/hg19 Yq11.223-11.23(chrY:24644460-28341390)x0	CN LOSS	Pathogenic	870513		GRCh37: Y:24644460-28341390 GRCh38:
3	overlap with 25 genes	GRCh37/hg19 Yq11.223-11.23(chrY:23887108-28799937)x0	CN LOSS	Pathogenic	870515		GRCh37: Y:23887108-28799937 GRCh38:
4	overlap with 16 genes	GRCh37/hg19 Yq11.223-11.23(chrY:24770884-28355431)x0	CN LOSS	Pathogenic	870518		GRCh37: Y:24770884-28355431 GRCh38:
5	overlap with 39 genes	GRCh37/hg19 Yq11.221-11.23(chrY:18546605-28799937)x0	CN LOSS	Pathogenic	870519		GRCh37: Y:18546605-28799937 GRCh38:
6	overlap with 39 genes	GRCh37/hg19 Yq11.222-11.23(chrY:20111978-28423925)x0	CN LOSS	Pathogenic	870520		GRCh37: Y:20111978-28423925 GRCh38:
7	overlap with 24 genes	GRCh37/hg19 Yq11.21-11.223(chrY:14495040-24070172)x0	CN LOSS	Pathogenic	870521		GRCh37: Y:14495040-24070172 GRCh38:
8	overlap with 17 genes	GRCh37/hg19 Yq11.223-11.23(chrY:24651462-28328263)x0	CN LOSS	Pathogenic	870522		GRCh37: Y:24651462-28328263 GRCh38:
9	overlap with 3 genes	GRCh37/hg19 Yq11.21-11.221(chrY:14443478-15230544)x0	CN LOSS	Pathogenic	870525		GRCh37: Y:14443478-15230544 GRCh38:
10	overlap with 33 genes	GRCh37/hg19 Yq11.222-11.23(chrY:21719615-28799937)x0	CN LOSS	Pathogenic	870526		GRCh37: Y:21719615-28799937 GRCh38:
11	overlap with 47 genes	GRCh37/hg19 Yq11.21-11.23(chrY:13800703-28799937)x0	CN LOSS	Pathogenic	870527		GRCh37: Y:13800703-28799937 GRCh38:
12	overlap with 44 genes	GRCh37/hg19 Yq11.221-11.23(chrY:15427283-28799937)x0	CN LOSS	Pathogenic	870528		GRCh37: Y:15427283-28799937 GRCh38:
13	CLDN2	NM_020384.4(CLDN2):c.481G>C (p.Gly161Arg)	SNV	Pathogenic	488651	rs1555979575	GRCh37: X:106171939-106171939 GRCh38: X:106928709-106928709
14	HOXD13	NM_000523.4(HOXD13):c.820C>T (p.Arg274Ter)	SNV	Pathogenic	374019	rs200750564	GRCh37: 2:176959246-176959246 GRCh38: 2:176094518-176094518
15	DNAH5	NM_001369.3(DNAH5):c.5557A>T (p.Lys1853Ter)	SNV	Pathogenic	220581	rs748618094	GRCh37: 5:13841167-13841167 GRCh38: 5:13841058-13841058
16	HORMAD1	NM_032132.5(HORMAD1):c.1021C>T (p.Gln341Ter)	SNV	Pathogenic	1711131		GRCh37: 1:150675797-150675797 GRCh38: 1:150703321-150703321
17	FKBP6	NM_003602.5(FKBP6):c.589-2A>G	SNV	Pathogenic	1684032		GRCh37: GRCh38: 7:73340636-73340636
18	FKBP6	NM_003602.5(FKBP6):c.508_529dup (p.Phe177fs)	DUP	Pathogenic	1684033		GRCh37: GRCh38: 7:73331695-73331696
19	CFTR	NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	SNV	Pathogenic	35867	rs75541969	GRCh37: 7:117254753-117254753 GRCh38: 7:117614699-117614699
20	ODAD2	NM_018076.5(ODAD2):c.2097+1G>A	SNV	Pathogenic	812721	rs149368374	GRCh37: 10:28228825-28228825 GRCh38: 10:27939896-27939896
21	ODAD2	NM_018076.5(ODAD2):c.2765G>A (p.Gly922Glu)	SNV	Likely Pathogenic	812720	rs1564439559	GRCh37: 10:28151397-28151397 GRCh38: 10:27862468-27862468
22	FKBP6	NM_003602.5(FKBP6):c.610C>T (p.Arg204Ter)	SNV	Likely Pathogenic	1683495		GRCh37: GRCh38: 7:73340659-73340659
23	BRWD1	NM_033656.4(BRWD1):c.5573A>T (p.Gln1858Leu)	SNV	Likely Pathogenic	982437		GRCh37: 21:40570769-40570769 GRCh38: 21:39198843-39198843
24	FKBP6	NM_003602.5(FKBP6):c.832C>T (p.Arg278Ter)	SNV	Likely Pathogenic	1684034		GRCh37: GRCh38: 7:73341321-73341321
25	FKBP6	NM_003602.5(FKBP6):c.469-2A>T	SNV	Likely Pathogenic	1684035		GRCh37: GRCh38: 7:73331655-73331655
26	SOX30	NM_178424.2(SOX30):c.1550C>G (p.Ser517Cys)	SNV	Likely Pathogenic	812722	rs377581367	GRCh37: 5:157065568-157065568 GRCh38: 5:157638560-157638560
27	GALNTL5	NM_145292.4(GALNTL5):c.153dup (p.Val52fs)	DUP	Likely Pathogenic	996331	rs746301883	GRCh37: 7:151664477-151664478 GRCh38: 7:151967392-151967393
28	KLK4	NM_004917.5(KLK4):c.680C>T (p.Pro227Leu)	SNV	Uncertain Significance	978005	rs144350395	GRCh37: 19:51410275-51410275 GRCh38: 19:50907019-50907019
29	MYO6	NM_004999.4(MYO6):c.3176G>C (p.Arg1059Thr)	SNV	Uncertain Significance	45153	rs202214380	GRCh37: 6:76608128-76608128 GRCh38: 6:75898411-75898411
30	SYCP3	NM_001177949.2(SYCP3):c.241A>C (p.Ile81Leu)	SNV	Uncertain Significance	869113	rs1952350079	GRCh37: 12:102128817-102128817 GRCh38: 12:101735039-101735039
31	ZMYND15	NM_001136046.3(ZMYND15):c.2057+6G>T	SNV	Uncertain Significance	812589	rs1597285544	GRCh37: 17:4648676-4648676 GRCh38: 17:4745381-4745381
32	CATSPER1	NM_053054.4(CATSPER1):c.2108C>T (p.Thr703Met)	SNV	Uncertain Significance	305418	rs373771804	GRCh37: 11:65787628-65787628 GRCh38: 11:66020157-66020157
33	CATSPER1	NM_053054.4(CATSPER1):c.-23del	DEL	Uncertain Significance	305453	rs886048524	GRCh37: 11:65793873-65793873 GRCh38: 11:66026402-66026402
34	CATSPER1	NM_053054.4(CATSPER1):c.*122AG[1]	MICROSAT	Uncertain Significance	305413	rs764701805	GRCh37: 11:65784236-65784237 GRCh38: 11:66016765-66016766
35	DNAI1	NM_012144.4(DNAI1):c.1948C>T (p.Arg650Cys)	SNV	Uncertain Significance	216677	rs140820295	GRCh37: 9:34517412-34517412 GRCh38: 9:34517414-34517414
36	CCDC40	NM_017950.4(CCDC40):c.850G>C (p.Asp284His)	SNV	Uncertain Significance	260979	rs201042940	GRCh37: 17:78022555-78022555 GRCh38: 17:80048756-80048756
37	DNAH11	NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu)	SNV	Uncertain Significance	454644	rs72658814	GRCh37: 7:21907590-21907590 GRCh38: 7:21867972-21867972
38	DNAH11	NM_001277115.2(DNAH11):c.5805G>C (p.Leu1935Phe)	SNV	Uncertain Significance	978000	rs1783424940	GRCh37: 7:21727026-21727026 GRCh38: 7:21687408-21687408
39	GALNTL5	NM_145292.4(GALNTL5):c.1256G>C (p.Arg419Pro)	SNV	Uncertain Significance	978001	rs142778679	GRCh37: 7:151716810-151716810 GRCh38: 7:152019725-152019725
40	AMELY	NM_001143.2(AMELY):c.574-1G>A	SNV	Uncertain Significance	978002	rs760519968	GRCh37: Y:6734120-6734120 GRCh38: Y:6866079-6866079
41	CCDC40	NM_017950.4(CCDC40):c.1945T>C (p.Phe649Leu)	SNV	Uncertain Significance	978003	rs2038463011	GRCh37: 17:78055813-78055813 GRCh38: 17:80082014-80082014
42	DNAH10	NM_001372106.1(DNAH10):c.10528C>G (p.Pro3510Ala)	SNV	Uncertain Significance	978004	rs143987578	GRCh37: 12:124399051-124399051 GRCh38: 12:123914504-123914504
43	DNAH10	NM_001372106.1(DNAH10):c.11308G>A (p.Ala3770Thr)	SNV	Uncertain Significance	978006	rs1566103463	GRCh37: 12:124403298-124403298 GRCh38: 12:123918751-123918751
44	DNAH10	NM_001372106.1(DNAH10):c.3868C>T (p.Leu1290Phe)	SNV	Uncertain Significance	978007	rs778218750	GRCh37: 12:124303584-124303584 GRCh38: 12:123819037-123819037
45	DNAH10	NM_001372106.1(DNAH10):c.3575A>G (p.Asn1192Ser)	SNV	Uncertain Significance	978008	rs771006247	GRCh37: 12:124298141-124298141 GRCh38: 12:123813594-123813594
46	CATSPER2	NM_172095.4(CATSPER2):c.842+1G>C	SNV	Uncertain Significance	978009	rs199516208	GRCh37: 15:43931101-43931101 GRCh38: 15:43638903-43638903
47	KLK14	NM_001369775.2(KLK14):c.652G>A (p.Val218Met)	SNV	Uncertain Significance	978010	rs201317571	GRCh37: 19:51581368-51581368 GRCh38: 19:51078111-51078111
48	DCAF6, ADCY10	NM_018417.6(ADCY10):c.366T>A (p.Cys122Ter)	SNV	Uncertain Significance	978011	rs1000089911	GRCh37: 1:167870970-167870970 GRCh38: 1:167901732-167901732
49	BRWD1	NM_033656.4(BRWD1):c.523C>T (p.His175Tyr)	SNV	Uncertain Significance	982436		GRCh37: 21:40667755-40667755 GRCh38: 21:39295829-39295829
50	BRWD1	NM_033656.4(BRWD1):c.166G>A (p.Gly56Ser)	SNV	Uncertain Significance	982435		GRCh37: 21:40684799-40684799 GRCh38: 21:39312873-39312873

Sources

Expression for Male Infertility

Search GEO for disease gene expression data for Male Infertility.

Sources

Pathways for Male Infertility

Pathways related to Male Infertility according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Translational Control ³ Show member pathways exRNA mechanism of action and biogenesis ⁷⁴	11.62	PIWIL1 DAZL DAZ1
2	Male infertility ⁷⁴	11.04	SEMG1 PRM2 PRM1 PIWIL1 HORMAD1 H2BW1
3	Ovarian infertility ⁷⁴	10.51	FSHR DAZL

Sources

GO Terms for Male Infertility

Cellular components related to Male Infertility according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein-containing complex	GO:0032991	9.73	SEMG1 EPPIN DAZL DAZ4 DAZ1 CFTR
2	chromosome	GO:0005694	9.1	PRM2 PRM1 HORMAD1 H2BW1 FKBP6

Biological processes related to Male Infertility according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell differentiation	GO:0030154	10.1	BOLL DAZ1 DAZ4 DAZL FKBP6 GALNTL5
2	meiotic cell cycle	GO:0051321	10.01	PIWIL1 HORMAD1 FKBP6 BOLL
3	spermatid development	GO:0007286	9.91	PRM2 PIWIL1 GALNTL5 FSHR
4	negative regulation of calcium ion import	GO:0090281	9.76	SEMG1 EPPIN
5	positive regulation of translational initiation	GO:0045948	9.76	DAZL DAZ4 DAZ1 BOLL
6	negative regulation of flagellated sperm motility	GO:1901318	9.73	SEMG1 EPPIN
7	sperm DNA condensation	GO:0035092	9.72	PRM1 PIWIL1 FSHR
8	spermatogenesis	GO:0007283	9.64	PRM2 PRM1 PIWIL1 HORMAD1 GALNTL5 FSHR
9	3'-UTR-mediated mRNA stabilization	GO:0070935	9.56	BOLL DAZ1 DAZ4 DAZL

Molecular functions related to Male Infertility according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	mRNA 3'-UTR binding	GO:0003730	9.76	DAZL DAZ4 DAZ1 BOLL
2	nucleic acid binding	GO:0003676	9.65	BOLL DAZ1 DAZ4 DAZL PIWIL1
3	mRNA binding	GO:0003729	9.43	PIWIL1 DAZL DAZ4 DAZ1 BOLL
4	translation activator activity	GO:0008494	9.23	DAZL DAZ4 DAZ1 BOLL