Hypocalciuric hypercalcemia | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA 1	MONDO:0007791	CASR	Causal	10843194 23966241 26963950 34169121 7493018 7726161 8675635 9011580	ClinGen, ClinVar, GWAS catalog	NOD-like receptor signaling pathway Parathyroid hormone synthesis, secretion and action G alpha (q) signalling events +2 more
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA 2	MONDO:0007792	GNA11	Causal	23802516 26729423 28194446	ClinVar, GWAS catalog	Calcium signaling pathway cGMP-PKG signaling pathway Hormone signaling +23 more
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA 3	MONDO:0010926	AP2S1	Causal	23222959 24081735 25993639 26082470 28176280	ClinVar, GWAS catalog	Endocytosis Synaptic vesicle cycle Endocrine and other factor-regulated calcium reabsorption +14 more
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 1	93372	CASR	Unknown	—	Orphanet	NOD-like receptor signaling pathway Parathyroid hormone synthesis, secretion and action G alpha (q) signalling events +2 more
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 2	101049	GNA11	Unknown	23802516	Orphanet	Calcium signaling pathway cGMP-PKG signaling pathway Hormone signaling +23 more
FAMILIAL HYPOCALCIURIC HYPERCALCEMIA TYPE 3	101050	AP2S1	Unknown	23222959	Orphanet	Endocytosis Synaptic vesicle cycle Endocrine and other factor-regulated calcium reabsorption +14 more
HYPOCALCIURIA	C0020599	CASR	Causal	—	Disgenet	NOD-like receptor signaling pathway Parathyroid hormone synthesis, secretion and action G alpha (q) signalling events +2 more
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE 1	C0342637 MESH:C537145	CASR	Unknown	7916660	CTD, Disgenet	NOD-like receptor signaling pathway Parathyroid hormone synthesis, secretion and action G alpha (q) signalling events +2 more
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE 2	C1840347 MESH:C537146	GNA11	Unknown	—	CTD, Disgenet	Calcium signaling pathway cGMP-PKG signaling pathway Hormone signaling +23 more
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE I	145980	CASR	Unknown	—	HPO	NOD-like receptor signaling pathway Parathyroid hormone synthesis, secretion and action G alpha (q) signalling events +2 more
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE II	145981	GNA11	Unknown	—	HPO	Calcium signaling pathway cGMP-PKG signaling pathway Hormone signaling +23 more
HYPOCALCIURIC HYPERCALCEMIA, FAMILIAL, TYPE III	600740 C1833372	AP2S1	Unknown	—	Disgenet, HPO	Endocytosis Synaptic vesicle cycle Endocrine and other factor-regulated calcium reabsorption +14 more