Table 1.

Genes in which mutations or gene expression changes were identified with the respective infertility phenotype associated.

Infertility Phenotype	Genes
Asthenospermia	AKAP3, AKAP4, AXDND1, CATSPER1, CATSPER2, CATSPER3, CATSPER4, CCDC103, CCDC40, CFAP43, CFAP44, CFAP70, COPS7A, CRHR1, CUL3, DEFB126, DNAAF1, DNAAF6, DNAH6, DNAH11, DNAH17, DNAH5, DNAH8, DNAH9, DNAI1, DNAJB13, DNHD1, DRC1, HIP1, HTX11, INSL6 IQCG, IQUB, KLHL7, KRT34, LRRC6, MT-C03, NEDD4, NSUN7, QRICH2, RSPH3, RSPH6A, SEPTIN4, SLC26A8, SPAG17, SPATA33, TEKT2, ZMYND10
Multiple morphological anomalies of the flagella (MMAF)	BRWD1, CCDC34, CCDC39, CEP135, CFAP251, CFAP58, CFAP61, CFAP69, CFAP74, DNAH1, DNAH10, DNAH17, DNAH2, DNAH5, DNAH6, DNAH7, DNAH8, DZIP1, DZP1, FSIP2, MAATS1, ODF2, QRICH2, SPAG6, SPATA16, SPEF2, TTC21A, TTC29, WDR19, WDR66
Nonobstructive azoospermia	AR, ABLIM1, AHRR, ART3, ATM, AZFa, AZFb, AZFc, BCL2, BPDY2, BPY2, CCDC34, CDC42BPA, CDY2A, DAZ1, DBX3Y, DMC1, DMRT1, DNMT3B, EPSTI1, ETV5, FANCM, GNAO1, HLA-DRA, HSF2, HSFY1, KLHL10, M1AP, MCM8, MEIOB, MLH3, MSMB, MTHFR, NANOS1, NPAS2, NR5A1, PACRG, PIWIL2, PNLDC1, PYGO2, RBMX, RBYMIAI, REC8, SIRPG, SOHLH1, SOX5, SPINK2, SRSF6, STAG3, STX2, SYCE1, SYCE1L, SYCP3, TAF4B, TDRD9, TEX11, TEX14, TEX15, USP9Y, WT1, XRCC2, ZMYND15
Obstructive azoospermia	ADGRG2, CFTR
Oligozoospermia	AXDND1, DAZ1, DAZ2, DICER1, DNMT1, EPHX2, GSTM1, GSTT1, KIT, KITLG, NR0B1, NR5A1, OR2W3, PARP1, PIWIL3, PIWIL4, PLK4, PON1, PON2, PRM1, PSAT1, SIRPA, SOX6, USP8, ZMYND15
Teratozoospermia	AURKC, BSCL2, CCIN, CCDC90B, CCDC91, DPY19L2, SPATA20, SPA17, CYP1A1, FBXO43, PPP2R3C, SEPTIN12, ZPBP, DPY19L2, PICK1, SPATA16, SEPTIN4

The following databases on phenotype–genotype associations were used as sources of information to elaborate this table: (1) OMIM (https://www.omim.org/); (2) ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/); (3) Human Gene Mutation Database (HGMD, https://www.hgmd.cf.ac.uk/ac/index.php); (4) Human Phenotype Ontology (https://hpo.jax.org/app/about). All databases were accessed on 4 January 2023.