Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HYPOGONADOTROPIC HYPOGONADISM	C0271623 MONDO:0018555	AXL	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Efferocytosis VEGFA-VEGFR2 Pathway
		BTK	Unknown	—	Disgenet	NF-kappa B signaling pathway Osteoclast differentiation Platelet activation +17 more
		CCDC141	Unknown	—	Disgenet, GenCC	—
		CHD7	Unknown	18834967	Disgenet, GWAS catalog	—
		DNA2	Unknown	—	Disgenet	DNA replication Removal of the Flap Intermediate from the C-strand HDR through Single Strand Annealing (SSA) +9 more
		DUSP6	Unknown	23643382	Disgenet	MAPK signaling pathway Transcriptional misregulation in cancer Acute myeloid leukemia +3 more
		FEZF1	Unknown	—	Disgenet	—
		FGF17	Unknown	23643382	Disgenet, GWAS catalog	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +47 more
		FGF8	Unknown	18596921 20463092	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +47 more
		FLRT3	Unknown	—	Disgenet	Downstream signaling of activated FGFR1
		GH1	Unknown	—	Disgenet	Cytokine-cytokine receptor interaction Neuroactive ligand-receptor interaction Hormone signaling +6 more
		GHRHR	Unknown	—	Disgenet	Neuroactive ligand-receptor interaction Hormone signaling Growth hormone synthesis, secretion and action +3 more
		GNRH1	Unknown	—	Disgenet, GenCC	Neuroactive ligand-receptor interaction Hormone signaling GnRH signaling pathway +3 more
		HS6ST1	Unknown	21700882	Disgenet	Glycosaminoglycan biosynthesis - heparan sulfate / heparin HS-GAG biosynthesis
		IL17RD	Unknown	—	Disgenet	MAP2K and MAPK activation
		KISS1	Unknown	22335740	Disgenet	Neuroactive ligand-receptor interaction GnRH secretion Peptide ligand-binding receptors +1 more
		NDNF	Unknown	—	Disgenet	—
		NHLH2	Unknown	—	Disgenet	—
		NSMF	Unknown	—	Disgenet, GenCC	—
		PLXNA3	Unknown	33495532	Disgenet	Axon guidance Sema3A PAK dependent Axon repulsion SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion +1 more
		POU6F2	Unknown	—	Disgenet	—
		PROK2	Unknown	17959774 18682503	Disgenet, GWAS catalog	Peptide ligand-binding receptors G alpha (q) signalling events
		PROKR2	Unknown	18682503	Disgenet, GWAS catalog	Peptide ligand-binding receptors G alpha (q) signalling events
		SEMA3A	Unknown	—	Disgenet	Axon guidance Sema3A PAK dependent Axon repulsion SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion +1 more
		SEMA3E	Unknown	—	Disgenet	Axon guidance Other semaphorin interactions
		SEMA3F	Unknown	33495532	ClinVar, Disgenet	Axon guidance
		SPRY4	Unknown	23643382	Disgenet, GWAS catalog	—
		SRA1	Unknown	—	Disgenet	—
		TAC3	Unknown	19079066	Disgenet	Neuroactive ligand-receptor interaction Tachykinin receptors bind tachykinins G alpha (q) signalling events
		TCF12	Unknown	—	Disgenet	Myogenesis RUNX1 regulates transcription of genes involved in differentiation of HSCs NGF-stimulated transcription
		WDR11	Unknown	20887964	Disgenet, GWAS catalog	—
HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA	C3553977 MONDO:0013946 OMIM:614880	HS6ST1	Unknown	—	CTD, ClinVar, Disgenet, GenCC	Glycosaminoglycan biosynthesis - heparan sulfate / heparin HS-GAG biosynthesis
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA	C3554021 MONDO:0013961 OMIM:614897	SEMA3A	Unknown	22416012 22927827 24124006 25077900 28075028 28295047 29419413 29432577 30098700	CTD, ClinVar, Disgenet, GWAS catalog	Axon guidance Sema3A PAK dependent Axon repulsion SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion +1 more
HYPOGONADOTROPIC HYPOGONADISM 18 WITH OR WITHOUT ANOSMIA	615267 C3808975 MONDO:0014103 OMIM:615267	IL17RD	Unknown	23643382 27502037 29419413 30098700 31200363	CTD, ClinVar, Disgenet, HPO	MAP2K and MAPK activation
HYPOGONADOTROPIC HYPOGONADISM 20 WITH OR WITHOUT ANOSMIA	615270 C3808983 MONDO:0014106 OMIM:615270	FGF17	Unknown	23643382 29419413 31200363 31748124	CTD, ClinVar, Disgenet, GWAS catalog, HPO	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +47 more
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA	C3808986	MACROD2	Unknown	—	Disgenet	—
HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA	616030 C4014988 MONDO:0014461 OMIM:616030	FEZF1	Unknown	25192046	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
HYPOGONADOTROPIC HYPOGONADISM 23 WITH OR WITHOUT ANOSMIA	228300 MONDO:0009223	LHB	Unknown	15569941 1727547 17761593 22723313 27656125 29476300	HPO, Orphanet	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +11 more
HYPOGONADOTROPIC HYPOGONADISM 24 WITH OR WITHOUT ANOSMIA	229070 C5574957	FSHB	Unknown	—	Disgenet, HPO	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +6 more
HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA	C5676921 619755 MONDO:0030684	MAN2C1	Unknown	—	Disgenet	Other glycan degradation Lysosomal oligosaccharide catabolism
HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA	C5676921 619755 MONDO:0030684	NHLH2	Unknown	34494548 35066646 9090387	ClinVar, Disgenet, GWAS catalog, HPO	—
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA	C3552553	SEMA3E	Unknown	—	Disgenet	Axon guidance Other semaphorin interactions
HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA	146110 MONDO:0007794	AXL	Unknown	—	ClinVar, HPO	EGFR tyrosine kinase inhibitor resistance Efferocytosis VEGFA-VEGFR2 Pathway
		CCDC141	Unknown	—	ClinVar, HPO	—
		CHD7	Unknown	—	ClinVar	—
		DUSP6	Unknown	—	ClinVar, HPO	MAPK signaling pathway Transcriptional misregulation in cancer Acute myeloid leukemia +3 more
		FEZF1	Unknown	—	ClinVar, HPO	—
		FGF17	Unknown	—	ClinVar, HPO	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +47 more
		FGF8	Unknown	—	ClinVar	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +47 more
		GNRH1	Unknown	—	ClinVar, HPO	Neuroactive ligand-receptor interaction Hormone signaling GnRH signaling pathway +3 more
		HS6ST1	Unknown	—	ClinVar	Glycosaminoglycan biosynthesis - heparan sulfate / heparin HS-GAG biosynthesis
		KISS1	Unknown	—	ClinVar	Neuroactive ligand-receptor interaction GnRH secretion Peptide ligand-binding receptors +1 more
		KISS1R	Unknown	—	ClinVar	Neuroactive ligand-receptor interaction GnRH secretion Peptide ligand-binding receptors +1 more
		NSMF	Unknown	—	ClinVar	—
		PROK2	Unknown	—	ClinVar	Peptide ligand-binding receptors G alpha (q) signalling events
		PROKR2	Unknown	—	ClinVar	Peptide ligand-binding receptors G alpha (q) signalling events
		SEMA3A	Unknown	—	ClinVar	Axon guidance Sema3A PAK dependent Axon repulsion SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion +1 more
		SEMA3E	Unknown	—	ClinVar, HPO	Axon guidance Other semaphorin interactions
		SOX10	Unknown	—	ClinVar	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		SPRY4	Unknown	—	ClinVar, HPO	—
		SRA1	Unknown	—	ClinVar, HPO	—
		WDR11	Unknown	—	ClinVar, HPO	—
HYPOGONADOTROPIC HYPOGONADISM 9 WITH OR WITHOUT ANOSMIA	614838 C3553842 MONDO:0013911 OMIM:614838	NSMF	Unknown	15362570 17235395 20696889 21209029 21300340 30098700 31220265	CTD, ClinVar, Disgenet, HPO, Orphanet	—
IDIOPATHIC HYPOGONADOTROPIC HYPOGONADISM	C0342384 MESH:C562785	ANOS1	Unknown	—	CTD, Disgenet	FGFR1c ligand binding and activation Negative regulation of FGFR1 signaling
		AXL	Unknown	—	CTD, Disgenet	EGFR tyrosine kinase inhibitor resistance Efferocytosis VEGFA-VEGFR2 Pathway
		BBIP1	Unknown	—	Disgenet	BBSome-mediated cargo-targeting to cilium
		CCDC141	Unknown	—	CTD, Disgenet	—
		CHD7	Unknown	—	CTD	—
		DUSP6	Unknown	—	CTD, Disgenet	MAPK signaling pathway Transcriptional misregulation in cancer Acute myeloid leukemia +3 more
		FEZF1	Unknown	—	CTD, Disgenet	—
		FGF17	Unknown	—	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +47 more
		FGF8	Unknown	—	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +47 more
		FGFR1	Unknown	—	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +32 more
		GNRH1	Unknown	19535795	CTD, Disgenet	Neuroactive ligand-receptor interaction Hormone signaling GnRH signaling pathway +3 more
		GNRHR	Unknown	—	CTD, Disgenet	Neuroactive ligand-receptor interaction Hormone signaling GnRH signaling pathway +2 more
		HS6ST1	Unknown	—	CTD, Disgenet	Glycosaminoglycan biosynthesis - heparan sulfate / heparin HS-GAG biosynthesis
		KISS1	Unknown	—	CTD, Disgenet	Neuroactive ligand-receptor interaction GnRH secretion Peptide ligand-binding receptors +1 more
		KISS1R	Unknown	—	CTD, Disgenet	Neuroactive ligand-receptor interaction GnRH secretion Peptide ligand-binding receptors +1 more
		NSMF	Unknown	—	CTD, Disgenet	—
		PNPLA6	Unknown	—	Disgenet	Glycerophospholipid metabolism Glycerophospholipid catabolism
		POLR3B	Unknown	—	Disgenet	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
		PROK2	Unknown	—	CTD, Disgenet	Peptide ligand-binding receptors G alpha (q) signalling events
		PROKR2	Unknown	—	CTD, Disgenet	Peptide ligand-binding receptors G alpha (q) signalling events
		RNF216	Unknown	—	Disgenet	Negative regulators of DDX58/IFIH1 signaling
		SEMA3A	Unknown	—	CTD, Disgenet	Axon guidance Sema3A PAK dependent Axon repulsion SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion +1 more
		SEMA3E	Unknown	—	CTD, Disgenet	Axon guidance Other semaphorin interactions
		SOX10	Unknown	—	CTD, Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		SPRY4	Unknown	—	CTD, Disgenet	—
		SRA1	Unknown	—	CTD, Disgenet	—
		TAC3	Unknown	19079066	CTD, Disgenet	Neuroactive ligand-receptor interaction Tachykinin receptors bind tachykinins G alpha (q) signalling events
		TACR3	Unknown	19079066	CTD, Disgenet	Calcium signaling pathway Neuroactive ligand-receptor interaction Tachykinin receptors bind tachykinins +1 more
		WDR11	Unknown	—	CTD, Disgenet	—

Hypogonadotropic hypogonadism

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