MCID: YCH001
MIFTS: 28

Y Chromosome Infertility malady

Categories: Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Y Chromosome Infertility

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Aliases & Descriptions for Y Chromosome Infertility:

Name: Y Chromosome Infertility 22 46 23 24 66
Y Chromosome-Related Azoospermia 23 24
Deleted in Azoospermia 46 12
Y Chromosome Deletion 23 25
Oligozoospermia 23 48
Male Sterility Due to Y-Chromosome Deletions 46
 
Spermatogenic Failure, Y-Linked 24
Y Chromosome Microdeletions 46
Y Chromosome Deletions 66
Oligospermia 66
Daz 46

Characteristics:

HPO:

62


Classifications:



Summaries for Y Chromosome Infertility

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NIH Rare Diseases:46 Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. an affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly. this condition accounts for between 5 percent and 10 percent of cases of azoospermia or severe oligospermia. as its name suggests, this form of infertility is caused by changes in the y chromosome, one of the sex chromosomes. y chromosome infertility is usually caused by deletions of genetic material in regions of the y chromosome called azoospermia factor (azf) a, b, or c. genes in these regions are believed to provide instructions for making proteins involved in sperm cell development, although the specific functions of these proteins are not well understood. in rare cases, changes to a single gene called usp9y, which is located in the azfa region of the y chromosome, can cause y chromosome infertility. some men with y chromosome infertility who have mild to moderate oligospermia may eventually father a child naturally. assisted reproductive technologies may help other affected men. because y chromosome infertility impedes the ability to father children, this condition is usually caused by new deletions on the y chromosome and occurs in men with no history of the disorder in their family. when men with y chromosome infertility do father children, either naturally or with the aid of assisted reproductive technologies, they pass on the genetic changes on the y chromosome to all their sons. as a result, the sons will also have y chromosome infertility. last updated: 12/18/2015

MalaCards based summary: Y Chromosome Infertility, also known as y chromosome-related azoospermia, is related to spermatogenic failure, y-linked, 2 and partial deletion of y, and has symptoms including infertility/subfertility male, azoospermia and abnormality of metabolism/homeostasis. An important gene associated with Y Chromosome Infertility is USP9Y (Ubiquitin Specific Peptidase 9, Y-Linked).

Genetics Home Reference:24 Y chromosome infertility is a condition that affects the production of sperm, making it difficult or impossible for affected men to father children. An affected man's body may produce no sperm cells (azoospermia), a smaller than usual number of sperm cells (oligospermia), or sperm cells that are abnormally shaped or that do not move properly.

Related Diseases for Y Chromosome Infertility

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Graphical network of diseases related to Y Chromosome Infertility:



Diseases related to y chromosome infertility

Symptoms for Y Chromosome Infertility

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HPO human phenotypes related to Y Chromosome Infertility:

id Description Frequency HPO Source Accession
1 azoospermia HP:0000027
2 abnormality of metabolism/homeostasis HP:0001939

UMLS symptoms related to Y Chromosome Infertility:


infertility/subfertility male

Drugs & Therapeutics for Y Chromosome Infertility

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1vitamin dPhase 21607
2
TretinoinPhase 2218302-79-45538
Synonyms:
(all-e)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
.beta.-Retinoic acid
13497-05-7 (hydrochloride salt)
15-Apo-beta-caroten-15-oic acid
187175-63-9
1n4h
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraenoic acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexene-1-yl)-2,4,6,8-nonatetraenoic acid (ecl)
302-79-4
5300-03-8
56573-65-0
7005-78-9
9(Z)-Retinoic acid
9-cis-RA
A-Acido (Argentina)
A-Vitaminsyre
A-Vitaminsyre [Denmark]
AC-6824
AC1L9GWO
AC1Q1J2J
AGN 100335
AGN 192013
AKOS000280845
ALRT 1057
AT-RA
ATRA
Aberel
Aberela
Aberela [Norway]
Accutane Roche
Acid A Vit (Belgium, Netherlands)
Acid, Retinoic
Acid, Vitamin A
Acid, all-trans-Retinoic
Acid, beta-all-trans-Retinoic
Acid, trans-Retinoic
Acide retinoique (French) (DSL)
Acide retinoique (french) (dsl)
Acnavit
Acnavit [Denmark]
Airol
Aknefug
Aknoten
Alitretinoin
All Trans Retinoic Acid
All Trans-Retinoic Acid
All-trans Retinoic Acid
Alltrans-retinoic acid
Amnesteem
Atra-IV
Atragen
Atralin
Avita (TN)
Avita Gel
Avitoin
Avitoin [Norway]
BAL4079
BIDD:GT0483
BIDD:PXR0081
BML2-E05
BPBio1_000082
BRN 2057223
BSPBio_000074
BSPBio_001500
Betarretin
C00777
CCRIS 3294
CCRIS 7098
CHEBI:15367
CHEMBL38
CID444795
CPD000058245
Claravis
Cordes VAS [Germany]
Cordes vas
D00094
D014212
DB00523
DB00755
DB00982
Dermairol
EINECS 206-129-0
EU-0101061
Effederm
Effederm [France]
Epi-aberel
Eudyna
HMS1361K22
HMS1568D16
HMS1791K22
HMS1921D14
HMS1989K22
HMS2089D20
HMS2092N11
HMS502N05
HSDB 2169
HSDB 7186
I04-0008
I14-2351
IDI1_000903
IDI1_033970
Isotretinoin Retinoic acid
L000833
LGD 100057
LMPR01090019
LS-1154
Lopac0_001061
Lsotretinoin
MLS000028588
MLS001076515
MLS002207234
MLS002222211
MolPort-000-883-857
NCGC00017280-06
NCGC00017280-17
NCGC00021808-04
 
NCGC00021808-05
NCGC00021808-06
NCGC00021808-07
NCGC00021808-09
NCGC00021808-14
NCGC00021808-15
NSC 122758
NSC-122758
NSC122758
Nexret
PDT-002-002
Panretin Gel
Panretyn
Potassium Salt, Tretinoin
Prestwick2_000257
Prestwick3_000257
Prestwick_424
R 2625
R0064
R2625_SIGMA
REA
RETINOIC ACID, ALL TRANS
RETINOIC acid
Renova
Renova (TN)
Retacnyl
Retin A
Retin A (TN)
Retin-A
Retin-A Micro
Retin-a
Retinoate
Retinoic acid
Retinoic acid, all-trans- (8CI)
Retinova
Retionic Acid
Retionic acid
Retisol-A
Retisol-a
Ro 1-5488
S1653_Selleck
SAM002264647
SMR000058245
SPECTRUM1502016
SR-01000000239
SR-01000000239-14
ST057075
Salt, Tretinoin Potassium
Salt, Tretinoin Sodium
Salt, Tretinoin Zinc
Sodium Salt, Tretinoin
Solage
Sotret
Spectrum5_001746
Spectrum5_001933
Stieva-A
Stieva-a
Stieva-a Forte
TRETINON
Tretin M
Tretin m
Tretinoin
Tretinoin (JAN/USP/INN)
Tretinoin (TN)
Tretinoin 0.1% cream or placebo
Tretinoin Potassium Salt
Tretinoin Sodium Salt
Tretinoin Zinc Salt
Tretinoin [USAN:INN:BAN]
Tretinoin/All-Trans Retinoic Acid
Tretinoina
Tretinoina [INN-Spanish]
Tretinoine
Tretinoine (french) (einecs)
Tretinoine [INN-French]
Tretinoino
Tretinoino [INN-Spanish]
Tretinoinum
Tretinoinum [INN-Latin]
Tri-Luma
Trétinoïne
UNII-1UA8E65KDZ
UNII-5688UTC01R
UPCMLD-DP097
Vesanoid
Vesanoid (TN)
Vesanoid, Airol, Renova, Atralin, Retin-A, Avita, Tretinoin
Vesnaroid
Vitamin A acid
Vitinoin
WLN: L6UTJ A1 B1U1Y1 & U2U1Y1 & U1VQ C1 C1
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U1VQ C1 C1
Zinc Salt, Tretinoin
[3H]Retinoic acid
all trans-Retinoic acid
all-(E)-Retinoic acid
all-(e)-Retinoic acid
all-trans-Retinoic acid
all-trans-Tretinoin
all-trans-Vitamin A acid
all-trans-Vitamin A1 acid
all-trans-Vitamin a acid
all-trans-Vitamin a1 acid
all-trans-b-Retinoic acid
all-trans-beta-Retinoic acid
b-Retinoic acid
beta all trans Retinoic Acid
beta-Ra
beta-Retinoic Acid
beta-Retinoic acid
beta-all-trans-Retinoic acid
bmse000562
nchembio.154-comp2
trans Retinoic Acid
trans-Retinoic acid
tretinoin
tretinoin liposome
tretinoine (French) (EINECS)
3
IsotretinoinPhase 21174759-48-25538, 5282379
Synonyms:
(13-cis)-Retinoate
(13-cis)-Retinoic acid
(13cis)-retinoic acid
(2Z,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraenoic acid
(2Z,4E6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraenoic acid
(7E,9E,11E,13Z)-retinoic acid
(7e,9e,11e,13Z)-Retinoic acid
13 Cis-Retinoic Acid
13 cis retinoic acid
13-RA
13-cis RA
13-cis retinoic acid
13-cis-Retinoate
13-cis-Retinoic acid
13-cis-Vitamin A acid
13-cis-Vitamin a acid
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)2-cis-4-trans-6-trans-8-trans-nonatetraenoic acid
4-09-00-02388 (Beilstein Handbook Reference)
4759-48-2
97950-17-9
AC-15388
AC1NQZZ4
Accutane
Accutane (TN)
Ambap302-79-4
Amnesteem
BML2-E07
BPBio1_000080
BRD-K76723084-001-05-9
BRN 1885770
BSPBio_000072
BSPBio_001331
BSPBio_003345
CCRIS 4286
CHEBI:6067
CHEMBL547
CID5282379
CIP-Isotretinoin
CPD000471891
Claravis
D00348
D015474
EINECS 225-296-0
EU-0101081
HMS1361C13
HMS1568D14
HMS1791C13
HMS1921D08
HMS1989C13
HMS2092N07
HSDB 3929
IDI1_033801
Isotane
Isotretinoin
Isotretinoin (USP)
Isotretinoin Retinoic acid
 
Isotretinoin Zinc Salt, 13 cis Isomer
Isotretinoin Zinc Salt, 13-cis-Isomer
Isotretinoin [USAN:BAN:INN]
Isotretinoin [USAN:INN:BAN]
Isotretinoina
Isotretinoine
Isotretinoine [INN-French]
Isotretinoino
Isotretinoino [INN-Spanish]
Isotretinoinum
Isotretinoinum [INN-Latin]
Isotrex
LMPR01090021
LS-143465
Lopac0_001081
MLS001074662
MolPort-003-666-394
NCGC00094358-01
NCGC00094358-02
NCGC00094358-03
NCGC00094358-04
NCGC00094358-05
NCGC00094358-06
NCGC00094358-07
NCGC00094358-08
NCGC00094358-09
NCGC00094358-13
Neovitamin A acid
Neovitamin a acid
Prestwick2_000256
Prestwick3_000256
Prestwick_642
R 3255
R3255_SIGMA
Retinoate
Retinoic acid
Ro 4 3780
Ro 4-3780
Ro 43780
Ro-4-3780
Ro-43780
Roaccutan
Roaccutane
Roacutan
SAM002548955
SMR000471891
SPECTRUM1502013
Sotret
Sotret (TN)
Spectrum5_001795
Spectrum5_001937
Teriosal
UNII-EH28UP18IF
cis-RA
cis-Retinoate
cis-Retinoic acid
isotretinoino
4
CalcitriolPhase 219432222-06-3134070, 5280453
Synonyms:
(1R,3S)-5-{2-[(1R,3aS,7aR)-1-((R)-5-Hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
(1R,3S,5Z)-5-[(2E)-2-[(1R,3aS,7aR)-1-[(2R)-6-hydroxy-6-methylheptan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10-triene-1,3,25-triol
(1S,3R,5Z,7e)-9,10-Secocholesta-5,7,10-triene-1,3,25-triol
(1alpha,3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1alpha,3beta,5Z,7e)-9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol
(3b,5Z,7E)-9,10-Secocholesta-5,7,10(19)-trienetriol
(5Z,7E)-(1S,3R)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1-alpha,3-beta,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta,25-triol
(5Z,7e)-(1S,3R)-9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol
1 alpha,25-Dihydroxyvitamin D3
1,25 (OH)2 D3
1,25 Dihydroxycholecalciferol
1,25(OH)2-20epi-D3
1,25(OH)2D3 & CD4
1,25(OH2)D3
1,25-(OH)2-D3
1,25-(OH)2D3
1,25-DHCC
1,25-DIHYDROXYCHOLECALCIFEROL
1,25-Dihydroxycholecalciferol
1,25-Dihydroxycholecaliferol
1,25-Dihydroxyvitamin D
1,25-Dihydroxyvitamin D3
1,25-dihydroxy vitamin D3
1,25-dihydroxy-20-epi-Vitamin D3
1,25-dihydroxycholecalciferol
1,25D3
1-alpha,-1,25-Dihydroxyvitamin D3
1-alpha,25-Dihydroxycholecalciferol
1-alpha,25-Dihydroxyvitamin D3
1-alpha-25-Dihydroxyvitamin D3
1-alpha-25-dihydroxyvitamin D3
1.Alpha.,25-Dihydroxy-26,27-hexadeuterovitamin D3
17936_FLUKA
17936_SIGMA
1a,25-(OH)2D3
1a,25-Dihydroxycholecalciferol
1a,25-Dihydroxyvitamin D3
1alpha,25(OH)2-D3
1alpha,25(OH)2D3
1alpha,25-Dihydroxycholecalciferol
1alpha,25-Dihydroxyvitamin D
1alpha,25-Dihydroxyvitamin D3
1db1
1α,25(OH)2D3
1α,25-dihydroxycholecalciferol
1α,25-dihydroxyvitamin D3
20-epi-1alpha,25-dihydroxycholecaliferol
25-Dihydroxycholecalciferol
32222-06-3
5-{2-[1-(5-hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha,3beta,25-triol
9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol, (1.alpha.,3.beta,.5Z,7E)- & CD4
9,10-seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha, 3beta, 25-triol
AC-1859
AC1NQX1S
 
Ambap32222-06-3
Asentar
BCBcMAP01_000160
BML2-E03
BSPBio_001287
C01673
CCRIS 5522
CD-2027
CHEBI:17823
CHEMBL846
CID5280453
CPD000466393
Calcijex
Calcijex, Silkis, Rocaltrol, Topitriol, Cholecalciferol,Calcitriol
Calcitriol
Calcitriol (JAN/USAN/INN)
Calcitriol [USAN:INN:BAN:JAN]
Calcitriolum
Calcitriolum [INN-Latin]
D00129
D1530_SIGMA
DN 101
DN-101
Decostriol
Dihydroxyvitamin D3
EINECS 250-963-8
HMS1361A09
HMS1791A09
HMS1989A09
HMS2051F06
HMS2089N03
HSDB 3482
IDI1_033757
LMST03020258
LS-53093
MC-1288
MC1288
MLS000759536
MLS001424122
MolPort-002-045-698
NCGC00161327-01
NCGC00161327-04
Ro 21-5535
Ro 215535
Ro-21-5535
Rocaltrol
Rocaltrol (TN)
S1466_Selleck
SAM001246772
SMR000466393
Silkis
Soltriol
Spectrum5_002061
Topitriol
Toptriol
U 49562
Vectical
ZINC03924790
calcitriol
vit D

Interventional clinical trials:

idNameStatusNCT IDPhase
1Preimplantation Genetic Diagnosis for the Indication of Advanced Reproductive AgeSuspendedNCT00646893Phase 4
2RA-2 13-cis Retinoic Acid (Isotretinoin)Active, not recruitingNCT02061384Phase 2
3Genetic Studies Spermatogenic FailureCompletedNCT00548977
4X-chromosome Inactivation, Epigenetics and the TranscriptomeCompletedNCT01678261
5The Clinical Study of Sex Chromosome VariantsRecruitingNCT01661010
6Effect of Trophectoderm Biopsy for Sex Selection on the Pregnancy and Miscarriage Rates of Women Undergoing IVF/ICSIRecruitingNCT02412605
7Relationship Between Sperm Head Vacuoles and Sperm DNA Alterations in Infertile MenRecruitingNCT02006446
8Aneuploidies in Embryos and Spermatozoa From Patients With Y-chromosome MicrodeletionsActive, not recruitingNCT02527954
9The Value of Prenatal Ultrasound in Complicated Twin Pregnancy and Its Correlation With Chromosomal AnomaliesNot yet recruitingNCT02732717

Search NIH Clinical Center for Y Chromosome Infertility

Genetic Tests for Y Chromosome Infertility

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Genetic tests related to Y Chromosome Infertility:

id Genetic test Affiliating Genes
1 Y Chromosome Deletions25
2 Y Chromosome Infertility23 USP9Y

Anatomical Context for Y Chromosome Infertility

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Animal Models for Y Chromosome Infertility or affiliated genes

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Publications for Y Chromosome Infertility

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Articles related to Y Chromosome Infertility:

idTitleAuthorsYear
1
Y Chromosome Infertility (20301513)
1993

Variations for Y Chromosome Infertility

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Copy number variations for Y Chromosome Infertility from CNVD:

6 (show top 50)    (show all 56)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
146681108413813484171245DeletionNRG3Oligozoospermia
247682109649720296536412DeletionCYP2C19Oligozoospermia
369597125586667455896055DuplicationLRP1Oligozoospermia
469598125586667455896055DuplicationMIR1228Oligozoospermia
5736821295283909610254DeletionOligozoospermia
6736841295283909610254DuplicationOligozoospermia
78242314105602402105630289DeletionOligozoospermia
88242514105602402105630289DuplicationOligozoospermia
983074141926857619490830DeletionOR4K1Oligozoospermia
1083076141926857619490830DeletionOR4K2Oligozoospermia
1183078141926857619490830DeletionOR4K5Oligozoospermia
1283080141926857619490830DeletionOR4M1Oligozoospermia
1383082141926857619490830DeletionOR4N2Oligozoospermia
1483084141926857619490830DeletionOR4Q3Oligozoospermia
15104107166694264866967713DuplicationPRMT7Oligozoospermia
16104108166694264866967713DuplicationSMPD3Oligozoospermia
17109939173062458030787596DeletionSLFN11Oligozoospermia
18109940173062458030787596DeletionSLFN12Oligozoospermia
19109941173062458030787596DeletionSLFN13Oligozoospermia
20112919174152134441566740DuplicationKIAA1267Oligozoospermia
2114957028963519889902565DeletionOligozoospermia
2217936538947671989499633DeletionEPHA3Oligozoospermia
2318886446906945169166014DeletionUGT2B17Oligozoospermia
24190044482359748261720DuplicationSH3TC1Oligozoospermia
2521191963514311535184210DuplicationANKS1AOligozoospermia
262208167141413152141438704DeletionMGAMOligozoospermia
272573750102134796102496321DuplicationBEX1Oligozoospermia
282573760102134796102496321DuplicationBEX2Oligozoospermia
292573770102134796102496321DuplicationBEX4Oligozoospermia
302573780102134796102496321DuplicationNXF3Oligozoospermia
312573790102134796102496321DuplicationTCEAL5Oligozoospermia
322573800102134796102496321DuplicationTCEAL7Oligozoospermia
332573810102134796102496321DuplicationTCEAL8Oligozoospermia
342574580103066101103190187DuplicationH2BFMOligozoospermia
352574590103066101103190187DuplicationH2BFWTOligozoospermia
362574600103066101103190187DuplicationH2BFXPOligozoospermia
372574610103066101103190187DuplicationTMSB15BOligozoospermia
382575590105010614105561054DuplicationMUM1L1Oligozoospermia
392575600105010614105561054DuplicationNRKOligozoospermia
402575610105010614105561054DuplicationSERPINA7Oligozoospermia
412578120110238448110260226DuplicationPAK3Oligozoospermia
422578850111598447111621531DeletionOligozoospermia
432586550123911267124039708DeletionODZ1Oligozoospermia
442592840134120502134157976DuplicationCXorf48Oligozoospermia
452596590139706586139904507DuplicationMIR320D2Oligozoospermia
462610800154044877154079019DeletionOligozoospermia
4726197002816219028214748DuplicationOligozoospermia
4826267103837628338513841DuplicationTSPAN7Oligozoospermia
4926370905265768952978139DuplicationFAM156AOligozoospermia
5026371005265768952978139DuplicationSPANXN5Oligozoospermia

Expression for genes affiliated with Y Chromosome Infertility

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Search GEO for disease gene expression data for Y Chromosome Infertility.

Pathways for genes affiliated with Y Chromosome Infertility

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GO Terms for genes affiliated with Y Chromosome Infertility

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Biological processes related to Y Chromosome Infertility according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1single fertilizationGO:00073389.8BPY2, XKRY
2histone acetylationGO:00165739.5CDY1, CDY2A
3spermatogenesisGO:00072837.9BPY2, CDY1, CDY2A, DAZ1, DAZ3, USP9Y

Molecular functions related to Y Chromosome Infertility according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1histone acetyltransferase activityGO:00044029.1CDY1, CDY2A

Sources for Y Chromosome Infertility

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet