Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
SPERMATOGENIC FAILURE	MONDO:0004983	DMC1	Unknown	—	GenCC	—
		DMRT1	Unknown	—	ClinGen	—
		DNAH12	Unknown	23715323 34089056 34791246 39071892 40146200	ClinGen, Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH6	Unknown	23715323 26918822 28206990 29356036 31676830 34089056 37424858 37594300 39056782	ClinGen, Orphanet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		MYCBPAP	Unknown	—	GenCC	—
		NUP210L	Unknown	—	GenCC	Nucleocytoplasmic transport Amyotrophic lateral sclerosis
		RPL10L	Unknown	32111475	GWAS catalog	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
		SHOC1	Unknown	32900840	GWAS catalog	—
		STX2	Unknown	—	GenCC	SNARE interactions in vesicular transport Synaptic vesicle cycle
SPERMATOGENIC FAILURE 1	258150 MONDO:0009776	SYCP2	Unknown	31866047 32092049	Disgenet, HPO	—
SPERMATOGENIC FAILURE 10	614822 C3553793 MONDO:0013901 OMIM:614822	SEPTIN12	Unknown	20801438 22116646 22275165 30488758 31515488 32242295	CTD, ClinVar, Disgenet, HPO	Bacterial invasion of epithelial cells Shigellosis
SPERMATOGENIC FAILURE 100	621209	DNAH12	Unknown	—	ClinVar, ClinGen	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
SPERMATOGENIC FAILURE 101	621269	ATG4D	Unknown	—	ClinVar	Autophagy - other Autophagy - animal Macroautophagy
SPERMATOGENIC FAILURE 11	615081 C3554453 MONDO:0014037 OMIM:615081	KLHL10	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	—
SPERMATOGENIC FAILURE 12	615413 C3809427 MONDO:0014172 OMIM:615413	NANOS1	Causal	23315541 32155011 32655042 32719396	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
SPERMATOGENIC FAILURE 13	615841 C4014449 MONDO:0014365 OMIM:615841	TAF4B	Causal	15774719 24431330 32502024	CTD, ClinVar, Disgenet, HPO	Basal transcription factors Huntington disease RNA Polymerase II Pre-transcription Events +5 more
SPERMATOGENIC FAILURE 14	615842 C4014454 MONDO:0014366 OMIM:615842	ZMYND15	Causal	20675388 24431330 33169450 33728612 35017390 35973810	CTD, ClinVar, Disgenet, HPO	—
SPERMATOGENIC FAILURE 15	616950 C4310779 MONDO:0014847 OMIM:616950	SYCE1	Causal	246392 25899990 31916078	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
SPERMATOGENIC FAILURE 16	617187 C4310674 MONDO:0014961 OMIM:617187	SUN5	Causal	242362 251278 251404 27640305 282758	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
SPERMATOGENIC FAILURE 16	617187 C4310674 MONDO:0014961 OMIM:617187	PMFBP1	Unknown	—	Disgenet	—
SPERMATOGENIC FAILURE 17	617214 C4310666 MONDO:0014970 OMIM:617214	PLCZ1	Causal	19584136 22010140 22095789 22633260 250876 251348 26721930 281390 282083 29358633 30010725 31347677 31463947 31953539 32048714 32146562	CTD, ClinVar, Disgenet, HPO	Inositol phosphate metabolism Metabolic pathways Calcium signaling pathway +5 more
SPERMATOGENIC FAILURE 17	617214 C4310666 MONDO:0014970 OMIM:617214	PIK3C2G	Unknown	—	Disgenet	Inositol phosphate metabolism Metabolic pathways Phosphatidylinositol signaling system +3 more
SPERMATOGENIC FAILURE 18	617576 C4539783 MONDO:0054615	DNAH1	Causal	11371505 24360805 25613900 27798045 29449551 34822845 34867808	ClinGen, ClinVar, Disgenet, HPO, Orphanet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DNAH3	Causal	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		PSMD12	Unknown	—	Disgenet	Proteasome Alzheimer disease Parkinson disease +58 more
SPERMATOGENIC FAILURE 19	617592 C4539818 MONDO:0054723	CFAP43	Causal	24309898 28552195 29449551 31781811 33046149 34100391	CTD, ClinGen, ClinVar, Disgenet, HPO	—
SPERMATOGENIC FAILURE 2	108420 MONDO:0007161 OMIM:108420	MSH4	Causal	—	CTD, ClinVar, HPO	—
SPERMATOGENIC FAILURE 20	617593 C4539824 MONDO:0054724	CFAP44	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
SPERMATOGENIC FAILURE 21	617644 C4539991 MONDO:0054725	BRDT	Unknown	260154 28199965 32469048	ClinVar, Disgenet, GWAS catalog, HPO	—
SPERMATOGENIC FAILURE 22	617706 C4540179 MONDO:0054726	MEIOB	Causal	24068956 24240703 28206990 30838384	CTD, ClinVar, Disgenet, HPO	—
SPERMATOGENIC FAILURE 22	617706 C4540179 MONDO:0054726	FAHD1	Unknown	—	Disgenet	Tyrosine metabolism Metabolic pathways Citric acid cycle (TCA cycle)
SPERMATOGENIC FAILURE 23	617707 C4540185 MONDO:0054727	TEX14	Causal	—	ClinVar, Disgenet, HPO	—
SPERMATOGENIC FAILURE 24	617959 C4693751 MONDO:0054728	CFAP69	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
SPERMATOGENIC FAILURE 25	617960 C4693765 MONDO:0054729	TEX15	Causal	18283110 19007652 250744 26199321 279828 28303806 28355598 31479588	ClinVar, Disgenet, GenCC, HPO	—
SPERMATOGENIC FAILURE 26	617961 C4693773 MONDO:0054730	TSGA10	Causal	282592 28905369 32285443 32410354	ClinVar, Disgenet, HPO	—
SPERMATOGENIC FAILURE 27	617965 C4693784 MONDO:0054731	AK7	Unknown	—	ClinGen, ClinVar, Disgenet, GenCC, HPO	Purine metabolism Thiamine metabolism Metabolic pathways +3 more
SPERMATOGENIC FAILURE 28	618086 C4748117 MONDO:0054732	FANCM	Causal	—	ClinVar, Disgenet, GenCC, HPO	Fanconi anemia pathway Fanconi Anemia Pathway
SPERMATOGENIC FAILURE 29	618091 C4748142 MONDO:0054733	SPINK2	Causal	21705336 2855494	CTD, ClinVar, Disgenet, HPO	—
SPERMATOGENIC FAILURE 3	606766 C4721889 MONDO:0011720	SLC26A8	Causal	17517695 23582645 251394 280440 282824	ClinVar, Disgenet, GWAS catalog, HPO	—
SPERMATOGENIC FAILURE 3	606766 C4721889 MONDO:0011720	SRSF6	Unknown	—	Disgenet	Spliceosome Herpes simplex virus 1 infection Transport of Mature mRNA derived from an Intron-Containing Transcript +4 more
SPERMATOGENIC FAILURE 30	618110 C4748224 MONDO:0020851	TDRD9	Causal	20059948 28536242	ClinVar, Disgenet, GWAS catalog, HPO	—
SPERMATOGENIC FAILURE 31	618112 C4748234 MONDO:0020852	PMFBP1	Causal	30032984 30298696	ClinVar, Disgenet, GWAS catalog, HPO	—
SPERMATOGENIC FAILURE 32	618115 C4748253 MONDO:0020855	SOHLH1	Unknown	16690745 20506135 25774885 28718531 31042289	ClinVar, Disgenet, HPO	—
SPERMATOGENIC FAILURE 33	618152 C4748395 MONDO:0029147	CFAP251	Causal	30122540 30122541 30310178	ClinVar, Disgenet, GWAS catalog, HPO	—
SPERMATOGENIC FAILURE 34	618153 C4748403 MONDO:0029148	FSIP2	Causal	30137358 30745215	ClinVar, Disgenet, GWAS catalog, HPO	—
SPERMATOGENIC FAILURE 35	618341 C5193038 MONDO:0032686	QRICH2	Causal	30683861	ClinVar, Disgenet, GWAS catalog, HPO	—
SPERMATOGENIC FAILURE 36	618420 C5193086 MONDO:0032739	PPP2R3C	Causal	30893644	ClinVar, Disgenet, HPO	mRNA surveillance pathway Sphingolipid signaling pathway PI3K-Akt signaling pathway +5 more
SPERMATOGENIC FAILURE 37	618429 C5193091 MONDO:0032744	TTC21A	Causal	30929735	CTD, ClinVar, Disgenet, HPO	—
SPERMATOGENIC FAILURE 38	618433 C5193095 MONDO:0032748	ARMC2	Causal	23715323 30686508 34493464 34982025 35543806	ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	—
SPERMATOGENIC FAILURE 39	618643 C5231438 MONDO:0032845	DNAH17	Causal	25613900 31178125 33070343 33423959 33724408 33764336 35474353 35932098	ClinGen, ClinVar, Disgenet, HPO	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
SPERMATOGENIC FAILURE 4	270960 MONDO:0010052 OMIM:270960	SYCP3	Causal	—	CTD, ClinVar, GenCC, HPO	Homologous recombination
SPERMATOGENIC FAILURE 40	618664 C5231451 MONDO:0032859	CFAP65	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
SPERMATOGENIC FAILURE 63	619689 C5562055 MONDO:0030515	RPL10L	Causal	32111475	ClinVar, Disgenet, GWAS catalog, HPO	Ribosome Coronavirus disease - COVID-19 L13a-mediated translational silencing of Ceruloplasmin expression +7 more
SPERMATOGENIC FAILURE 75	619949 C5677014 MONDO:0030984	SHOC1	Causal	—	ClinVar, Disgenet, HPO	—
SPERMATOGENIC FAILURE 97	621057 MONDO:0975958	NUP210L	Unknown	—	ClinVar, HPO	Nucleocytoplasmic transport Amyotrophic lateral sclerosis

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Spermatogenic failure

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