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
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 17 WITH OR WITHOUT ANOSMIA	615266 C3808971 MONDO:0014102 OMIM:615266	SPRY4	Causal	23643382	CTD, ClinVar, Disgenet, HPO	—
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 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 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 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 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
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

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