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. Author manuscript; available in PMC: 2013 Sep 30.
Published in final edited form as: Nat Med. 2008 Nov 6;14(11):1197–1213. doi: 10.1038/nm.f.1895
Abnormal spermatogenesis
ATM; ATMAC; DAZL; ERCC2; GTF2A1L; JUN; NLRP14; NRB0B1; POLG; PRM1; PRM2; SDHA; SOX8; XRCC1; YBX2
Azoospermia
APOB; ACSBG2; ART3; ATM; BOULE; BPY2; BRCA2; CDY1; CFTR; CREM; DAZ; DDX25; DDX3Y; DRFFY; ERCC1; ERCC2; FASLG; FHL5; FKBP6; HNRNPC; HSFY1; KLHL10; LAP3; MBOAT1; MEI1; MLH1; MLH3; MTR; NLRP14; PRDM16; RBMX; RBMY1A1; RBMY1F; SPATA16; SYCP1; SYCP3; TAF7L; TGIF2LX; TSPY; TSSK4; UBE2B; USP26; UTP14C; USP9Y; UTY; XPC; XPD; XRCC1; YBX2; ZNF230
Oligospermia
MT-ATP6; EGF; FASL; H19 and MEST; KLHL10; PIGA; PRM1; PRM2; SHBG; SDHA; TSSK4; UBE2B; VASA
Asthenozoospermia
AKAP3; AKAP4C; CATSPER2; DNMT3B; DHAH5; DNAH11; DNAL1; PDYN; GNA12; Mitochondrial DNA; MTHFR; MT-ND4; PIGA; POLG; PPM1G; PRKAR1A; SHBG; SPAG16; TEKT1; TEKT2; TPN1; TPN2; TXNDC3; T mt DNA haplotypes
Teratozoospermia
AURKC; PRM1; PVRL2; SPATA16; SP1
Oligoasthenozoospermia
JUND; mt-ND4; NALP14
Oligoasthenoteratozoospermia
MTRR; IL1B; SABP
Acrosome or fertilization
POIA3
DNA damage Infertility
GSTM1 AR; GSTM1 KIT; KITLG; IL1A; OAZ3; PRM1; TSPY; TSSK4; USP26; YBX2
Varicocele effect
MT-ATP6; MT-ATP; CACNA1C; MT-CO1; MT-CO2; MT-ND3
Chromosome defect
Numerical sex chromosome (Klinefelter's; XXY–XXXXY)
Structural chromosome (translocations, inversions or deletions)
Y chromosome microdeletions, XX male or XY female
Systemic disorders affecting fertility
Kartagener's syndrome Noonan (PTPN11)
Fanconi anemia (FANCA) Sickle cell anemia (HBB)
Myotonic dystrophy (DMPK) β-thalassemia