Table S1.
Genes associated with male and female infertility (https://www.omim.org/)
| Female infertility | |||||
| Gene | Inheritance | OMIM gene ID | OMIM phenotype | OMIM phenotype ID | Clinical Features |
| HFM1 | AR | 615684 | POF9 | 615724 | Amenorrhea |
| FIGLA | AD | 608697 | POF6 | 612310 | Small/absent ovaries, follicles absent, atrophic endometrium |
| FOXL2 | AD | 605597 | POF3 | 608996 | Hypoplastic uterus and ovaries, follicles absent, secondary amenorrhea |
| MSH5 | AR | 603382 | POF13 | 617442 | Oligomenorrhea, atrophic ovaries, follicles absent |
| STAG3 | AR | 608489 | POF8 | 615723 | Primary amenorrhea, ovarian dysgenesis |
| NOBOX | AD | 610934 | POF5 | 611548 | Secondary amenorrhea, follicles absent |
| NR5A1 | AD | 184757 | POF7 | 612964 | Irregular or anovulatory menstrual cycles, secondary amenorrhea, dysgenetic gonads, no germ cells |
| ERCC6 | AD | 609413 | POF11 | 616946 | Secondary amenorrhea |
| SYCE1 | AR | 611486 | POF12 | 616947 | Primary amenorrhea, small prepubertal uterus and ovaries, no ovarian follicles |
| MCM8 | AR | 608187 | POF10 | 612885 | Absent thelarche, primary amenorrhea, no ovaries, hypergonadotropic ovarian failure |
| BMP15 | XLD | 300247 | POF4, OD2 | 300510 | Delayed puberty, primary/secondary amenorrhea, small ovaries, follicles absent, hypoplastic uterus, hirsutism, absent pubic/axillary hair |
| FLJ22792 | XLR | 300603 | POF2B | 300604 | Weak teeth, delayed puberty, primary amenorrhea, osteoporosis |
| DIAPH2 | XLD | 300108 | POF2A | 300511 | Secondary amenorrhea |
| FSHR | AR | 136435 | OD1 | 233300 | Osteoporosis, primary amenorrhea |
| MCM9 | AR | 610098 | OD4 | 616185 | Short stature, low weight, underdeveloped breasts, no ovaries, retarded bone age and development of pubic/axillary hair, primary amenorrhea |
| SOHLH1 | AR | 610224 | OD5 | 617690 | Short stature, absent thelarche, primary amenorrhea, hypoplastic/no ovaries, small uterus, retarded bone age |
| PSMC3IP | AR | 608665 | OD3 | 614324 | Underdeveloped breasts and absent pubic hair, hypoplastic uterus, primary amenorrhea |
| AMH | AD | 600957 | POF | / | Primary/secondary amenorrhea |
| AMHR2 | AD | 600956 | POF | / | Primary ovarian insufficiency |
| DAZL | AR | 601486 | POF | / | Low ovarian reserves |
| GDF9 | AR | 601918 | POF14 | 618014 | Primary amenorrhea, no breast development, delayed pubic hair development |
| LHCGR | AR | 152790 | POF | / | Primary amenorrhea |
| INHA | AD, AR | 147380 | POF | / | Primary amenorrhea |
| PGRMC1 | AD | 300435 | POF | / | Hypergonadotropic hypogonadism, amenorrhea |
| POU5F1 | AD | 164177 | POF | / | Small ovaries without follicles |
| TGFBR3 | AD | 600742 | POF | / | Premature ovarian failure |
| WT1 | AD | 607102 | POF | / | Secondary amenorrhea |
| SGO2 | AR | 612425 | POF | / | Ovarian insufficiency |
| SPIDR | AR | 615384 | POF | / | Hypoplastic/no ovaries |
| EIF4ENIF1 | AD | 607445 | POF | / | Secondary amenorrhea |
| NUP107 | AR | 607617 | OD6 | 618078 | No ovaries, small uterus, no spontaneous puberty |
| NANOS3 | AD | 608229 | POF | / | Primary amenorrhea |
| ZP3 | AD | 182889 | OOMD3 | 617712 | Oocyte degeneration, absence of zona pellucida |
| TUBB8 | AD, AR | 616768 | OOMD2 | 616780 | Oocyte arrest at metaphase I or II; abnormal spindle |
| ZP1 | AR | 195000 | OOMD1 | 615774 | Absence of zona pellucida |
| PATL2 | AR | 614661 | OOMD4 | 617743 | Oocyte maturation arrest in germinal vesicle stage, metaphase I or polar body 1 stage; abnormal polar body 1; early embryonic arrest |
| ZP2 | AR | 182888 | OOMD6 | 618353 | Abnormal of zona pellucida |
| TLE6 | AR | 612399 | PREMBL1 | 616814 | Failure of zygote formation |
| PADI6 | AR | 610363 | PREMBL2 | 617234 | Recurrent early embryonic arrest |
| SYCP3 | AD | 604759 | RPRGL4 | 270960 | Fetal loss after 6-10 weeks of gestation |
| F2 | AD | 176930 | RPRGL2 | 614390 | Recurrent miscarriage |
| ANXA5 | AD | 131230 | RPRGL3 | 614391 | |
| NLRP7 | AR | 609661 | HYDM1 | 231090 | Gestational trophoblastic disease |
| KHDC3L | AR | 611687 | HYDM2 | 614293 | |
| Male infertility | |||||
| Gene | Inheritance | OMIM gene | OMIM phenotype | OMIM phenotype ID | Sperm defect |
| NR5A1 | AR | 184757 | SPGF8 | 613957 | AZS/OZS |
| SYCP3 | AD | 604759 | SPGF4 | 270960 | AZS/OZS |
| ZMYND15 | AR | 614312 | SPGF14 | 615842 | AZS/OZS |
| TAF4B | AR | 601689 | SPGF13 | 615841 | AZS/OZS |
| TEX11 | XLR | 300311 | SPGFX2 | 309120 | AZS |
| NANOS1 | AD | 608226 | SPGF12 | 615413 | AZS/OZS/OZS+ASTHZ+TZS |
| PLK4 | AD | 605031 | / | / | AZS |
| MEIOB | AR | 617670 | SPGF22 | 617706 | AZS |
| SYCE1 | AR | 611486 | SPGF15 | 616950 | AZS |
| USP9Y | YL | 400005 | SPGFY2 | 400042 | AZS |
| SOHLH1 | AD | 610224 | SPGF32 | 618115 | AZS |
| TEX15 | AR | 605795 | SPGF25 | 617960 | AZS/OZS |
| HSF2 | AD | 140581 | / | / | AZS |
| KLHL10 | AD | 608778 | SPGF11 | 615081 | OZS; TZS; AZS |
| AURKC | AR | 603495 | SPGF5 | 243060 | TZS (macrozoospermia) |
| DPY19L2 | AR | 613893 | SPGF9 | 613958 | TZS (globozoospermia) |
| SPATA16 | AR | 609856 | SPGF6 | 102530 | TZS (globozoospermia) |
| PICK1 | AR | 605926 | / | / | TZS (globozoospermia) |
| BRDT | AR | 602144 | SPGF21 | 617644 | ASS |
| SUN5 | AR | 613942 | SPGF16 | 617187 | ASS |
| SLC26A8 | AD | 608480 | SPGF3 | 606766 | AZS |
| CATSPER1 | AR | 606389 | SPGF7 | 612997 | AZS |
| SEPT12 | AD | 611562 | SPGF10 | 614822 | AZS; OZS+ASTHZ+TZS |
| CFAP43 | AR | 617558 | SPGF19 | 617592 | MMAF |
| CFAP44 | AR | 617559 | SPGF20 | 617593 | MMAF |
| DNAH1 | AR | 603332 | SPGF18 | 617576 | MMAF |
| PLCZ1 | AR | 608075 | SPGF17 | 617214 | OAF |
SPGF = spermatogenic failure; OZS = oligozoospermia; AZS = azoospermia; ASTHZ = asthenozoospermia; TZS = teratozoospermia; OZS+ASTHZ+TZS = oligoasthenoteratozoospermia; ASS = acephalic spermatozoa syndrome; MMAF = multiple morphological abnormalities of the flagellum; OAF = oocyte activation failure; AR = autosomal recessive; AD = autosomal dominant; XLR = X-linked recessive; YL = Y-linked; OD=ovarian dysgenesis; POF = primary ovarian failure; OOMD=oocyte maturation defect; PREMBL=preimplantation embryonic lethality; RPRGL=recurrent pregnancy loss; PREMBL=preimplantation embryonic lethality.