Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
PREMATURE OVARIAN FAILURE 1	C4552079	MCM9	Causal	—	Disgenet	—
PREMATURE OVARIAN FAILURE 10	612885 C4225402 MONDO:0044776 OMIM:612885	MCM8	Causal	22771120 251316 251370 25437880 25873734 27573988 27802094 282878 28863940 31042289	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Activation of ATR in response to replication stress CDC6 association with the ORC:origin complex CDT1 association with the CDC6:ORC:origin complex +3 more
PREMATURE OVARIAN FAILURE 11	616946 C4310783 MONDO:0014843 OMIM:616946	ERCC6	Causal	26218421 33036707 33538981 35975393	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Nucleotide excision repair B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex +4 more
PREMATURE OVARIAN FAILURE 12	616947 C4310782 MONDO:0014844 OMIM:616947	SYCE1	Causal	21637789 25062452 9247432	CTD, ClinVar, Disgenet, HPO	—
PREMATURE OVARIAN FAILURE 13	617442 C4479510 MONDO:0044317 OMIM:617442	MSH5	Causal	26193622 26822949 28175301 32772095 32901360	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
PREMATURE OVARIAN FAILURE 14	618014 C4693941 MONDO:0044777	GDF9	Causal	29044499 30406445 33036707 33538981 33797006	ClinVar, Disgenet, GWAS catalog, HPO	Cytokine-cytokine receptor interaction
PREMATURE OVARIAN FAILURE 15	618096 C4748170 MONDO:0054862	FANCM	Causal	—	ClinVar, Disgenet, HPO	Fanconi anemia pathway Fanconi Anemia Pathway
PREMATURE OVARIAN FAILURE 16	618723 C5231474 MONDO:0032881	BNC1	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
PREMATURE OVARIAN FAILURE 18	619203 C5543095 MONDO:0030939	C14ORF39	Causal	33508233	ClinVar, Disgenet, GWAS catalog, HPO	—
PREMATURE OVARIAN FAILURE 19	619245 C5543229 MONDO:0030985	HSF2BP	Causal	32845237	ClinVar, Disgenet, HPO, Orphanet	—
PREMATURE OVARIAN FAILURE 20	619938 C5677011 MONDO:0030975	MSH4	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
PREMATURE OVARIAN FAILURE 21	620311 C5830399 MONDO:0957216	TP63	Causal	30924587 35801529	ClinVar, Disgenet, HPO, Orphanet	MicroRNAs in cancer Activation of PUMA and translocation to mitochondria TP53 Regulates Metabolic Genes +5 more
PREMATURE OVARIAN FAILURE 22	620548 C5882707 MONDO:0957822	KASH5	Causal	—	ClinVar, Disgenet, HPO	—
PREMATURE OVARIAN FAILURE 23	620686 C5882747 MONDO:0958035	MEIOB	Causal	—	ClinVar, Disgenet, HPO	—
PREMATURE OVARIAN FAILURE 24	620840 C5935624 MONDO:0970995	SYCP2L	Causal	32303603 38521400	ClinVar, Disgenet, GWAS catalog, HPO	—
PREMATURE OVARIAN FAILURE 3	C1837008 608996 MESH:C563816 MONDO:0012169	AGO2	Causal	—	Disgenet	Pre-NOTCH Transcription and Translation MicroRNA (miRNA) biogenesis Ca2+ pathway +11 more
PREMATURE OVARIAN FAILURE 3	C1837008 608996 MESH:C563816 MONDO:0012169	FOXL2	Causal	12149404 19429596 27603904	CTD, ClinVar, Disgenet, GWAS catalog, HPO	SUMOylation of transcription factors
PREMATURE OVARIAN FAILURE 4	C1845295	BMP15	Causal	15136966 19486016	Disgenet	Cytokine-cytokine receptor interaction Ovarian steroidogenesis Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
PREMATURE OVARIAN FAILURE 5	611548 C1969060 MESH:C566921 MONDO:0012689	NOBOX	Causal	15326356 21837770 27798098 33095795 417053214	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
PREMATURE OVARIAN FAILURE 6	612310 C2676742 MESH:C567351 MONDO:0012861	FIGLA	Causal	18499083	CTD, ClinVar, Disgenet, GenCC, HPO	—
PREMATURE OVARIAN FAILURE 7	612964 C2751825 MESH:C567838 MONDO:0013065	NR5A1	Causal	19246354 19256354 24073220	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Cortisol synthesis and secretion Cushing syndrome Nuclear Receptor transcription pathway +2 more
PREMATURE OVARIAN FAILURE 8	615723 C3810367 MONDO:0014321 OMIM:615723	STAG3	Causal	24597867 251340 251410 251446 26059840 28802712 28914264 30006057 31363903 417053214	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Oocyte meiosis
PREMATURE OVARIAN FAILURE 9	615724 C3810376 MONDO:0014322 OMIM:615724	HFM1	Causal	24597873 26679638 31028847 31279343 36864181	CTD, ClinVar, Disgenet, HPO	—

Premature ovarian failure

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