Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
OVARIAN FAILURE, PREMATURE	C0085215	ACKR3	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Viral protein interaction with cytokine and cytokine receptor Chemokine receptors bind chemokines +1 more
		ADAMTS1	Unknown	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ADAMTS5	Unknown	—	Disgenet	Degradation of the extracellular matrix Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		ADAMTS6	Unknown	—	Disgenet	Defective B3GALTL causes Peters-plus syndrome (PpS) O-glycosylation of TSR domain-containing proteins
		AFF2	Unknown	—	Disgenet	—
		AFP	Unknown	—	Disgenet	Hippo signaling pathway Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) Post-translational protein phosphorylation
		AOPEP	Unknown	—	Disgenet	Metabolism of Angiotensinogen to Angiotensins
		ATG2A	Unknown	—	Disgenet	Autophagy - other Autophagy - animal Alzheimer disease +4 more
		ATG7	Unknown	—	Disgenet	Autophagy - other Autophagy - animal Ferroptosis +5 more
		ATG9B	Unknown	—	Disgenet	Autophagy - other Mitophagy - animal Autophagy - animal +1 more
		BBS9	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		BMAL1	Unknown	—	Disgenet	—
		BMP15	Unknown	—	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
		BMP6	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction TGF-beta signaling pathway Hippo signaling pathway +1 more
		BNC1	Unknown	—	Disgenet	—
		BRD3	Unknown	—	Disgenet	—
		BRDT	Unknown	—	Disgenet	—
		BRWD1	Unknown	—	Disgenet	Interleukin-7 signaling Chromatin modifying enzymes
		CGNL1	Unknown	—	Disgenet	Tight junction
		CHEK2	Unknown	—	Disgenet	Cell cycle p53 signaling pathway Cellular senescence +9 more
		CHST11	Unknown	—	Disgenet	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate Chondroitin sulfate biosynthesis
		CYP17A1	Unknown	—	Disgenet	Steroid hormone biosynthesis Metabolic pathways Ovarian steroidogenesis +6 more
		CYP19A1	Unknown	—	Disgenet	Steroid hormone biosynthesis Metabolic pathways Ovarian steroidogenesis +3 more
		CYP2C19	Unknown	—	Disgenet	Arachidonic acid metabolism Linoleic acid metabolism Drug metabolism - cytochrome P450 +7 more
		DIAPH2	Unknown	—	Disgenet	Regulation of actin cytoskeleton Cytoskeleton in muscle cells RHO GTPases Activate Formins
		DMRT3	Unknown	—	Disgenet	—
		DNAH6	Unknown	—	Disgenet	Motor proteins Amyotrophic lateral sclerosis Huntington disease +1 more
		DPPA2	Unknown	—	Disgenet	—
		ERCC4	Unknown	—	Disgenet	Nucleotide excision repair Fanconi anemia pathway HDR through Single Strand Annealing (SSA) +4 more
		FANCA	Unknown	—	Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway
		FANCC	Unknown	—	Disgenet	Fanconi anemia pathway Fanconi Anemia Pathway TP53 Regulates Transcription of DNA Repair Genes
		FIGLA	Unknown	—	Disgenet	—
		FMR1	Unknown	—	Disgenet	—
		FYN	Unknown	—	Disgenet	Sphingolipid signaling pathway Phospholipase D signaling pathway Axon guidance +47 more
		GALT	Unknown	—	Disgenet	Galactose metabolism Amino sugar and nucleotide sugar metabolism Metabolic pathways +4 more
		GDF9	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction
		GLI1	Unknown	—	Disgenet	cAMP signaling pathway Hedgehog signaling pathway Pathways in cancer +5 more
		GPR141	Unknown	—	Disgenet	—
		IGF2R	Unknown	—	Disgenet	Virion - Herpesvirus Lysosome Endocytosis +5 more
		IGSF10	Unknown	—	Disgenet	—
		INSL6	Unknown	—	Disgenet	—
		JAK2	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Chemokine signaling pathway Hormone signaling +51 more
		KASH5	Unknown	—	Disgenet	—
		KDR	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance MAPK signaling pathway Ras signaling pathway +13 more
		MEIOB	Unknown	—	Disgenet	—
		MSH4	Unknown	—	Disgenet	—
		NOBOX	Unknown	—	Disgenet	—
		NR5A1	Unknown	—	Disgenet	Cortisol synthesis and secretion Cushing syndrome Nuclear Receptor transcription pathway +2 more
		STAG3	Unknown	—	Disgenet	Oocyte meiosis
		TP63	Unknown	—	Disgenet	MicroRNAs in cancer Activation of PUMA and translocation to mitochondria TP53 Regulates Metabolic Genes +5 more
PREMATURE OVARIAN FAILURE 1	311360 C4552079 MONDO:0010706	FMR1	Unknown	—	ClinVar, Disgenet, GenCC, 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 16	618723 C5231474 MONDO:0032881	BNC1	Causal	—	ClinVar, Disgenet, GenCC, HPO	—
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 2A	300511 C1845293 MESH:C564498 MONDO:0010350	DIAPH2	Unknown	28273668 30689869 9497258	CTD, ClinVar, Disgenet, HPO	Regulation of actin cytoskeleton Cytoskeleton in muscle cells RHO GTPases Activate Formins
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

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Premature ovarian failure

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