Pathways column key: KEGG Reactome

Disease Term	Disease ID	Gene Symbol	Classification	References	Source	Pathways
AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS	89937 C0342642 MONDO:0008660	FGF23	Causal	11062477 12130585 12414858 19655082 21710177 23038738 23174215 28383812 9389727	ClinVar, Disgenet, GWAS catalog, Orphanet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +49 more
AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS	89937 C0342642 MONDO:0008660	PHEX	Causal	—	Disgenet	—
AUTOSOMAL RECESSIVE HYPOPHOSPHATEMIC BONE DISEASE		SLC34A3	Causal	—	ClinVar	Parathyroid hormone synthesis, secretion and action Mineral absorption Type II Na+/Pi cotransporters +1 more
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	DMP1	Causal	—	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
		FGF23	Causal	—	Disgenet	MAPK signaling pathway Ras signaling pathway Rap1 signaling pathway +49 more
		PHEX	Causal	—	Disgenet	—
		WDR72	Causal	—	Disgenet	—
		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, AUTOSOMAL RECESSIVE, 1	241520 C4551495 MESH:C562792 MONDO:0009430	DMP1	Causal	17033621 17033625	CTD, ClinVar, Disgenet, GWAS catalog, HPO	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
HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2	613312 C2750078 MESH:C567647 MONDO:0013219	ENPP1	Causal	20137772 20137773 21745613 22539483 25741938	CTD, ClinVar, Disgenet, GWAS catalog, HPO	Purine metabolism Pyrimidine metabolism Starch and sucrose metabolism +7 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	300554 C1845168 MONDO:0010358	CLCN5	Causal	14569459 9602200 16247550 7922301 9259268 37641036 8559248 9187673 19673950 16041495	ClinVar, Disgenet, HPO	Neutrophil extracellular trap formation Stimuli-sensing channels
HYPOPHOSPHATEMIC RICKETS, X-LINKED RECESSIVE	300554 C1845168 MONDO:0010358	PHEX	Unknown	15029877 16055933 18252791 2894375 32329911 34633109 35896147 37059315 38722819 39710377 39877728	Disgenet	—

Hypophosphatemic rickets

Bookmark This Disease