Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
HYPOGONADOTROPIC HYPOGONADISM	C0271623 MONDO:0018555	ANOS1	Causal	—	Disgenet	FGFR1c ligand binding and activation Negative regulation of FGFR1 signaling
		FGFR1	Causal	17235395	CTD, Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +32 more
		GNRHR	Causal	22918878	ClinVar, Disgenet	Neuroactive ligand-receptor interaction Hormone signaling GnRH signaling pathway +2 more
		KISS1R	Causal	21193544	Disgenet, GWAS catalog	Neuroactive ligand-receptor interaction GnRH secretion Peptide ligand-binding receptors +1 more
		NLGN3	Causal	—	Disgenet	Cell adhesion molecules Neurexins and neuroligins
		POLR3B	Causal	—	Disgenet	RNA polymerase Cytosolic DNA-sensing pathway Cytosolic sensors of pathogen-associated DNA +3 more
		SOX10	Causal	—	Disgenet	EGR2 and SOX10-mediated initiation of Schwann cell myelination
		SOX11	Causal	—	Disgenet	—
		TACR3	Causal	19079066	Disgenet, GWAS catalog	Calcium signaling pathway Neuroactive ligand-receptor interaction Tachykinin receptors bind tachykinins +1 more
		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 1 WITH OR WITHOUT ANOSMIA	308700 MONDO:0010635	ANOS1	Causal	10340754 11874923 1518845 15471890 28780519 31669640 8513320	ClinGen, ClinVar, GWAS catalog, HPO	FGFR1c ligand binding and activation Negative regulation of FGFR1 signaling
HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA	614839 C3553843 MONDO:0013912 OMIM:614839	TAC3	Causal	20194706 20332248 250558 25077900 282832 282842 29419413 3712828	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Neuroactive ligand-receptor interaction Tachykinin receptors bind tachykinins G alpha (q) signalling events
HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA	614840 C3553844 MONDO:0013913 OMIM:614840	TACR3	Causal	20194706 20332248 22031817	CTD, ClinVar, Disgenet, GenCC, HPO	Calcium signaling pathway Neuroactive ligand-receptor interaction Tachykinin receptors bind tachykinins +1 more
HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA	614841 MONDO:0013914	GNRH1	Causal	19535795 19567835 26595427 27094476 29419413	ClinVar, GWAS catalog, HPO	Neuroactive ligand-receptor interaction Hormone signaling GnRH signaling pathway +3 more
HYPOGONADOTROPIC HYPOGONADISM 13 WITH OR WITHOUT ANOSMIA	614842 C3541462 MONDO:0013915 OMIM:614842	KISS1	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Neuroactive ligand-receptor interaction GnRH secretion Peptide ligand-binding receptors +1 more
HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA	614858 C3540450 MONDO:0013926 OMIM:614858	WDR11	Causal	20887964 27899157 28209183 29263200 30098700	CTD, ClinVar, Disgenet, GWAS catalog, HPO	—
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 17 WITH OR WITHOUT ANOSMIA	615266 C3808971 MONDO:0014102 OMIM:615266	SPRY4	Causal	23643382	CTD, ClinVar, Disgenet, HPO	—
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 19 WITH OR WITHOUT ANOSMIA	615269 C3808981 MONDO:0014105 OMIM:615269	DUSP6	Causal	18753132 23643382 32520725 34539727	CTD, ClinVar, Disgenet, HPO, Orphanet	MAPK signaling pathway Transcriptional misregulation in cancer Acute myeloid leukemia +3 more
HYPOGONADOTROPIC HYPOGONADISM 2 WITH OR WITHOUT ANOSMIA	147950 MONDO:0007844	FGFR1	Causal	16606836 16882753 18596921 10690855 16418210 17235395 23643382 17360555 12627230	ClinVar, GWAS catalog, HPO	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +32 more
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	615271 C3808986 MONDO:0014107 OMIM:615271	FLRT3	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Downstream signaling of activated FGFR1
HYPOGONADOTROPIC HYPOGONADISM 21 WITH OR WITHOUT ANOSMIA	615271 C3808986 MONDO:0014107 OMIM:615271	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 24 WITHOUT ANOSMIA	MONDO:0009239	FSHB	Causal	12161499 16630814 19966036 250876 8220432 9271483 9280841 9624193	ClinVar, GenCC	cAMP signaling pathway Neuroactive ligand-receptor interaction Hormone signaling +6 more
HYPOGONADOTROPIC HYPOGONADISM 25 WITH ANOSMIA	618841 C5394246 MONDO:0030010	NDNF	Causal	31883645	ClinVar, Disgenet, HPO	—
HYPOGONADOTROPIC HYPOGONADISM 26 WITH OR WITHOUT ANOSMIA	619718 C5676903 MONDO:0030534	TCF12	Causal	23354436 32620954	ClinVar, Disgenet, GWAS catalog, HPO	Myogenesis RUNX1 regulates transcription of genes involved in differentiation of HSCs NGF-stimulated transcription
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 3 WITH OR WITHOUT ANOSMIA	244200 C3550478 MONDO:0009482	PROKR2	Causal	—	ClinGen, ClinVar, Disgenet, GenCC, HPO	Peptide ligand-binding receptors G alpha (q) signalling events
HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA	610628 C3552343 MONDO:0012528	PROK2	Causal	12427552 12604792 15976302 17054399 17093083 17959774 18559922 18682503 18985070 19784373 23082007 23596439 24031091 24633064 25077900 26141714 30098700 32870266	ClinGen, ClinVar, Disgenet, HPO	Peptide ligand-binding receptors G alpha (q) signalling events
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA	612370 C3552553 MONDO:0012880	CHD7	Causal	18834967 22399515 22724017 25077900 29979396	CTD, ClinVar, Disgenet, HPO	—
HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA	612370 C3552553 MONDO:0012880	SEMA3E	Unknown	—	Disgenet	Axon guidance Other semaphorin interactions
HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA	612702 C3552574 MONDO:0012988	FGF8	Causal	—	ClinVar, Disgenet, GenCC, HPO	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +47 more
HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA	MONDO:0007794 146110	ANOS1	Causal	—	ClinVar	FGFR1c ligand binding and activation Negative regulation of FGFR1 signaling
		FGFR1	Causal	—	ClinVar	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +32 more
		GNRHR	Causal	10084584 11397871 12050282 16968799 21209029 22745237 24002956 247756 250532 25077900 282190 282638 30947225 9425890	CTD, ClinVar, HPO	Neuroactive ligand-receptor interaction Hormone signaling GnRH signaling pathway +2 more
		TAC3	Causal	—	ClinVar	Neuroactive ligand-receptor interaction Tachykinin receptors bind tachykinins G alpha (q) signalling events
		TACR3	Causal	—	ClinVar	Calcium signaling pathway Neuroactive ligand-receptor interaction Tachykinin receptors bind tachykinins +1 more
		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 8 WITH OR WITHOUT ANOSMIA	614837 C3553841 MONDO:0013910 OMIM:614837	KISS1R	Causal	—	CTD, ClinVar, Disgenet, GenCC, HPO	Neuroactive ligand-receptor interaction GnRH secretion Peptide ligand-binding receptors +1 more
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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