Hypophosphatemic rickets | Gene-Disease Associations & Pathways | GeDiPNet

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Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS	289176 MONDO:0017324	DMP1	Unknown	—	GenCC, Orphanet	ECM-receptor interaction ECM proteoglycans Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC RICKETS	289176 MONDO:0017324	ENPP1	Unknown	—	GenCC, Orphanet	Purine metabolism Pyrimidine metabolism Starch and sucrose metabolism +7 more
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS	C0342643	DMP1	Unknown	—	Disgenet	ECM-receptor interaction ECM proteoglycans Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs) +1 more
	C0342643	ENPP1	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Starch and sucrose metabolism +7 more
FAMILIAL HYPOPHOSPHATEMIC RICKETS	C3536983 MESH:D053098	CLCN5	Unknown	—	CTD, Disgenet	Neutrophil extracellular trap formation Stimuli-sensing channels
		PHEX	Unknown	11414762 18775977 3414685 9430241	CTD, Disgenet	—
		VDR	Unknown	—	Disgenet	Parathyroid hormone synthesis, secretion and action Endocrine and other factor-regulated calcium reabsorption Mineral absorption +5 more
HYPOPHOSPHATEMIC RICKETS	C1704375 MONDO:0024300	ENPP1	Unknown	—	Disgenet	Purine metabolism Pyrimidine metabolism Starch and sucrose metabolism +7 more
		HRAS	Unknown	—	Disgenet	EGFR tyrosine kinase inhibitor resistance Endocrine resistance MAPK signaling pathway +134 more
		LRRC56	Unknown	—	Disgenet	—
		SGK3	Unknown	—	Disgenet, GenCC	FoxO signaling pathway PI3K-Akt signaling pathway Stimuli-sensing channels
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	C1853271 241530 MESH:C562793	SLC34A1	Unknown	—	Disgenet	Parathyroid hormone synthesis, secretion and action Mineral absorption Type II Na+/Pi cotransporters +2 more
HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA, HEREDITARY	C1853271 241530 MESH:C562793	SLC34A3	Unknown	—	CTD, Disgenet, HPO	Parathyroid hormone synthesis, secretion and action Mineral absorption Type II Na+/Pi cotransporters +1 more
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT	193100 MESH:C562791	FGF23	Unknown	—	CTD, HPO	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +49 more
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT	C0733682 307800	CLCN5	Unknown	—	Disgenet	Neutrophil extracellular trap formation Stimuli-sensing channels
HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT	C0733682 307800	PHEX	Unknown	—	Disgenet, HPO	—
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	C1845168	PHEX	Unknown	15029877 16055933 18252791 2894375 32329911 34633109 35896147 37059315 38722819 39710377 39877728	Disgenet	—