Disease table of HYPOPHOSPHATEMIC RICKETS OMIM ID: PS193100

Gene-disease associations table

Gene	Associated with HYPOPHOSPHATEMIC RICKETS in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
PHEX	ClinVar, OMIM, HUMSAVAR	HGNC link	Xp22.11	1	PS193100
DMP1	ClinVar, OMIM	HGNC link	4q22.1	1	PS193100
FGF23	ClinVar, OMIM, HUMSAVAR	HGNC link	12p13.32	2	PS193100, 211900
CLCN5	OMIM, HUMSAVAR	HGNC link	Xp11.23	4	PS193100, PS300009, 310468, 308990
ENPP1	ClinVar, OMIM, HUMSAVAR	HGNC link	6q23.2	5	615522, PS193100, 125853, 601665, PS208000

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
Xp	2	CLCN5, PHEX

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
X	2	CLCN5, PHEX

Transcription Factors (TF) annotation from TRRUST

regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
CLCN5	YES	1	TFAP4	0

Interactions from BIOGRID - physical

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
PHEX	DMP1	No	-	1	FGF23
PHEX	FGF23	Yes	activation, binding	1	PTH
PHEX	ENPP1	No	-	1	FGF23
DMP1	FGF23	Yes	activation	1	FLT1
DMP1	ENPP1	No	-	1	FGF23
FGF23	ENPP1	Yes	expression, activation, binding	2	FGF2, INSR

Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)

Interactions from CORUM

Interactions from CENSUS

Interactions from PDB

Interactions from manually curated literature

KEGG pathways annotation: shared terms / NET-GE enrichment (no shared terms)

REACTOME pathways annotation: shared terms / NET-GE enrichment (no shared terms)

GO - molecular function annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	5	FGF23, PHEX, ENPP1, CLCN5, DMP1
cation binding (GO:0043169)	1.4	3	PHEX, ENPP1, DMP1
ion binding (GO:0043167)	1.36	3	PHEX, ENPP1, DMP1
catalytic activity (GO:0003824)	1.05	3	FGF23, PHEX, ENPP1
protein binding (GO:0005515)	0.46	3	FGF23, ENPP1, DMP1
receptor binding (GO:0005102)	2.43	3	FGF23, ENPP1, DMP1
metal ion binding (GO:0046872)	1.41	3	PHEX, ENPP1, DMP1
purine ribonucleoside triphosphate binding (GO:0035639)	2.22	2	CLCN5, ENPP1
macromolecular complex binding (GO:0044877)	2.61	2	ENPP1, DMP1
zinc ion binding (GO:0008270)	2.66	2	PHEX, ENPP1
heterocyclic compound binding (GO:1901363)	1.06	2	CLCN5, ENPP1
purine nucleoside binding (GO:0001883)	2.22	2	CLCN5, ENPP1
nucleoside binding (GO:0001882)	2.21	2	CLCN5, ENPP1
transition metal ion binding (GO:0046914)	2.48	2	PHEX, ENPP1
nucleotide binding (GO:0000166)	1.96	2	CLCN5, ENPP1
nucleoside phosphate binding (GO:1901265)	1.96	2	CLCN5, ENPP1
ribonucleoside binding (GO:0032549)	2.22	2	CLCN5, ENPP1
protein complex binding (GO:0032403)	3.09	2	ENPP1, DMP1
purine nucleotide binding (GO:0017076)	2.19	2	CLCN5, ENPP1
ATP binding (GO:0005524)	2.43	2	CLCN5, ENPP1
calcium ion binding (GO:0005509)	3.17	2	ENPP1, DMP1
hydrolase activity (GO:0016787)	1.9	2	PHEX, ENPP1
small molecule binding (GO:0036094)	1.89	2	CLCN5, ENPP1
adenyl nucleotide binding (GO:0030554)	2.4	2	CLCN5, ENPP1
carbohydrate derivative binding (GO:0097367)	2.03	2	CLCN5, ENPP1
organic cyclic compound binding (GO:0097159)	1.05	2	CLCN5, ENPP1
adenyl ribonucleotide binding (GO:0032559)	2.41	2	CLCN5, ENPP1
purine ribonucleotide binding (GO:0032555)	2.2	2	CLCN5, ENPP1
purine ribonucleoside binding (GO:0032550)	2.22	2	CLCN5, ENPP1
ribonucleotide binding (GO:0032553)	2.19	2	CLCN5, ENPP1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
aminopeptidase activity (GO:0004177)	NEW	5.98	0.0	FGF23, PHEX, DMP1
extracellular matrix structural constituent (GO:0005201)	NEW	5.37	0.001	FGF23, PHEX, DMP1
metallopeptidase activity (GO:0008237)	NEW	4.5	0.017	FGF23, PHEX, DMP1
exopeptidase activity (GO:0008238)	NEW	5.07	0.002	FGF23, PHEX, DMP1

GO - biological process annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
biological regulation (GO:0065007)	0.39	4	FGF23, CLCN5, ENPP1, DMP1
cellular process (GO:0009987)	0.26	4	FGF23, PHEX, ENPP1, DMP1
single-organism cellular process (GO:0044763)	0.65	4	FGF23, PHEX, ENPP1, DMP1
regulation of biological process (GO:0050789)	0.45	4	FGF23, CLCN5, ENPP1, DMP1
single-organism process (GO:0044699)	0.48	4	FGF23, PHEX, ENPP1, DMP1
developmental process (GO:0032502)	1.36	3	PHEX, ENPP1, DMP1
primary metabolic process (GO:0044238)	0.69	3	FGF23, PHEX, ENPP1
regulation of transport (GO:0051049)	2.24	3	FGF23, CLCN5, ENPP1
anatomical structure development (GO:0048856)	1.58	3	PHEX, ENPP1, DMP1
tissue development (GO:0009888)	3.27	3	PHEX, ENPP1, DMP1
cellular metabolic process (GO:0044237)	0.69	3	FGF23, PHEX, ENPP1
macromolecule metabolic process (GO:0043170)	0.83	3	FGF23, PHEX, ENPP1
organic substance metabolic process (GO:0071704)	0.63	3	FGF23, PHEX, ENPP1
biomineral tissue development (GO:0031214)	5.41	3	PHEX, ENPP1, DMP1
metabolic process (GO:0008152)	0.58	3	FGF23, PHEX, ENPP1
phosphorus metabolic process (GO:0006793)	2.15	3	FGF23, PHEX, ENPP1
organophosphate metabolic process (GO:0019637)	3.04	3	FGF23, PHEX, ENPP1
regulation of localization (GO:0032879)	1.94	3	FGF23, CLCN5, ENPP1
regulation of phosphate metabolic process (GO:0019220)	2.35	2	FGF23, ENPP1
regulation of primary metabolic process (GO:0080090)	1.08	2	FGF23, ENPP1
regulation of metabolic process (GO:0019222)	1.02	2	FGF23, ENPP1
regulation of response to stimulus (GO:0048583)	1.54	2	FGF23, ENPP1
anion transport (GO:0006820)	3.71	2	CLCN5, ENPP1
small molecule metabolic process (GO:0044281)	2.38	2	FGF23, ENPP1
inorganic ion homeostasis (GO:0098771)	3.43	2	FGF23, ENPP1
organic cyclic compound metabolic process (GO:1901360)	1.26	2	FGF23, ENPP1
organic cyclic compound catabolic process (GO:1901361)	3.73	2	FGF23, ENPP1
single-organism catabolic process (GO:0044712)	3.21	2	FGF23, ENPP1
single-organism metabolic process (GO:0044710)	1.63	2	FGF23, ENPP1
regulation of signal transduction (GO:0009966)	1.84	2	FGF23, ENPP1
positive regulation of biological process (GO:0048518)	1.2	2	FGF23, DMP1
negative regulation of biological process (GO:0048519)	1.33	2	FGF23, ENPP1
cellular homeostasis (GO:0019725)	3.23	2	FGF23, ENPP1
vitamin metabolic process (GO:0006766)	4.97	2	FGF23, ENPP1
negative regulation of transport (GO:0051051)	3.6	2	FGF23, ENPP1
regulation of macromolecule metabolic process (GO:0060255)	1.08	2	FGF23, ENPP1
response to chemical (GO:0042221)	1.98	2	FGF23, ENPP1
response to organic substance (GO:0010033)	2.2	2	FGF23, ENPP1
regulation of phosphorylation (GO:0042325)	2.5	2	FGF23, ENPP1
protein metabolic process (GO:0019538)	1.45	2	FGF23, PHEX
chemical homeostasis (GO:0048878)	2.97	2	FGF23, ENPP1
regulation of bone mineralization (GO:0030500)	5.49	2	FGF23, ENPP1
cellular protein metabolic process (GO:0044267)	1.63	2	FGF23, PHEX
organic substance catabolic process (GO:1901575)	2.45	2	FGF23, ENPP1
cellular macromolecule metabolic process (GO:0044260)	0.93	2	FGF23, PHEX
regulation of biological quality (GO:0065008)	1.68	2	FGF23, ENPP1
response to endogenous stimulus (GO:0009719)	2.79	2	FGF23, ENPP1
regulation of developmental process (GO:0050793)	2.1	2	FGF23, ENPP1
ion transport (GO:0006811)	2.66	2	CLCN5, ENPP1
transport (GO:0006810)	1.51	2	CLCN5, ENPP1
regulation of biosynthetic process (GO:0009889)	1.37	2	FGF23, ENPP1
cellular response to stimulus (GO:0051716)	1.97	2	FGF23, ENPP1
regulation of biomineral tissue development (GO:0070167)	5.41	2	FGF23, ENPP1
macromolecule modification (GO:0043412)	1.73	2	FGF23, PHEX
protein modification process (GO:0036211)	1.79	2	FGF23, PHEX
regulation of multicellular organismal process (GO:0051239)	1.87	2	FGF23, ENPP1
regulation of ossification (GO:0030278)	4.53	2	FGF23, ENPP1
regulation of cellular process (GO:0050794)	0.5	2	FGF23, ENPP1
phosphate ion homeostasis (GO:0055062)	7.24	2	FGF23, ENPP1
response to stimulus (GO:0050896)	1.22	2	FGF23, ENPP1
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	2	FGF23, ENPP1
ion homeostasis (GO:0050801)	3.42	2	FGF23, ENPP1
cellular catabolic process (GO:0044248)	2.62	2	FGF23, ENPP1
negative regulation of signaling (GO:0023057)	2.65	2	FGF23, ENPP1
negative regulation of cell communication (GO:0010648)	2.66	2	FGF23, ENPP1
cellular response to chemical stimulus (GO:0070887)	2.57	2	FGF23, ENPP1
regulation of signaling (GO:0023051)	1.72	2	FGF23, ENPP1
regulation of cell communication (GO:0010646)	1.73	2	FGF23, ENPP1
trivalent inorganic anion homeostasis (GO:0072506)	7.24	2	FGF23, ENPP1
establishment of localization (GO:0051234)	1.48	2	CLCN5, ENPP1
cellular trivalent inorganic anion homeostasis (GO:0072502)	7.53	2	FGF23, ENPP1
regulation of protein metabolic process (GO:0051246)	1.93	2	FGF23, ENPP1
regulation of protein modification process (GO:0031399)	2.32	2	FGF23, ENPP1
cellular response to endogenous stimulus (GO:0071495)	3.33	2	FGF23, ENPP1
multicellular organismal process (GO:0032501)	1.45	2	CLCN5, DMP1
cellular ion homeostasis (GO:0006873)	3.57	2	FGF23, ENPP1
negative regulation of cell differentiation (GO:0045596)	3.33	2	FGF23, ENPP1
regulation of cell differentiation (GO:0045595)	2.42	2	FGF23, ENPP1
cellular anion homeostasis (GO:0030002)	7.02	2	FGF23, ENPP1
anion homeostasis (GO:0055081)	6.68	2	FGF23, ENPP1
cellular chemical homeostasis (GO:0055082)	3.4	2	FGF23, ENPP1
regulation of cellular protein metabolic process (GO:0032268)	1.99	2	FGF23, ENPP1
response to hormone (GO:0009725)	3.33	2	FGF23, ENPP1
regulation of cellular biosynthetic process (GO:0031326)	1.38	2	FGF23, ENPP1
regulation of cellular metabolic process (GO:0031323)	1.07	2	FGF23, ENPP1
homeostatic process (GO:0042592)	2.61	2	FGF23, ENPP1
regulation of anion transport (GO:0044070)	5.25	2	FGF23, CLCN5
cellular phosphate ion homeostasis (GO:0030643)	7.53	2	FGF23, ENPP1
regulation of ion transport (GO:0043269)	3.4	2	FGF23, CLCN5
regulation of cellular macromolecule biosynthetic process (GO:2000112)	1.46	2	FGF23, ENPP1
cellular response to organic substance (GO:0071310)	2.78	2	FGF23, ENPP1
inorganic anion transport (GO:0015698)	4.77	2	CLCN5, ENPP1
cellular protein modification process (GO:0006464)	1.79	2	FGF23, PHEX
regulation of phosphorus metabolic process (GO:0051174)	2.35	2	FGF23, ENPP1
cell communication (GO:0007154)	3.04	2	FGF23, PHEX
catabolic process (GO:0009056)	2.38	2	FGF23, ENPP1
localization (GO:0051179)	1.4	2	CLCN5, ENPP1
response to oxygen-containing compound (GO:1901700)	2.57	2	FGF23, ENPP1
cellular response to oxygen-containing compound (GO:1901701)	3.22	2	FGF23, ENPP1
cellular response to hormone stimulus (GO:0032870)	3.99	2	FGF23, ENPP1
phosphate-containing compound metabolic process (GO:0006796)	2.16	2	FGF23, ENPP1
regulation of multicellular organismal development (GO:2000026)	2.31	2	FGF23, ENPP1
regulation of protein phosphorylation (GO:0001932)	2.57	2	FGF23, ENPP1
negative regulation of cellular process (GO:0048523)	1.41	2	FGF23, ENPP1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
trivalent inorganic anion homeostasis (GO:0072506)	-	7.24	0.001	FGF23, ENPP1
negative regulation of multicellular organismal process (GO:0051241)	NEW	2.84	0.05	FGF23, PHEX, ENPP1, DMP1
cellular trivalent inorganic anion homeostasis (GO:0072502)	-	7.53	0.002	FGF23, ENPP1
negative regulation of transport (GO:0051051)	-	3.6	0.035	FGF23, PHEX, ENPP1, DMP1
biomineral tissue development (GO:0031214)	-	5.41	0.0	FGF23, PHEX, ENPP1, DMP1
regulation of biomineral tissue development (GO:0070167)	-	5.41	0.0	FGF23, PHEX, ENPP1, DMP1
phosphate ion homeostasis (GO:0055062)	-	7.24	0.001	FGF23, ENPP1
cellular anion homeostasis (GO:0030002)	-	7.02	0.002	FGF23, ENPP1
regulation of bone mineralization (GO:0030500)	-	5.49	0.048	FGF23, PHEX, ENPP1
anion homeostasis (GO:0055081)	-	6.68	0.016	FGF23, ENPP1
negative regulation of ossification (GO:0030279)	NEW	5.48	0.009	FGF23, ENPP1
cellular phosphate ion homeostasis (GO:0030643)	-	7.53	0.002	FGF23, ENPP1

GO - cellular component annotation: shared terms / NET-GE enrichment

Shared terms

GO	IC	Number of genes with the same GO	Genes
intracellular part (GO:0044424)	0.28	5	FGF23, PHEX, ENPP1, CLCN5, DMP1
cell part (GO:0044464)	0.11	5	FGF23, PHEX, ENPP1, CLCN5, DMP1
intracellular organelle part (GO:0044446)	0.81	4	FGF23, CLCN5, ENPP1, DMP1
cytoplasmic part (GO:0044444)	0.82	4	FGF23, PHEX, ENPP1, CLCN5
organelle part (GO:0044422)	0.79	4	FGF23, CLCN5, ENPP1, DMP1
intracellular membrane-bounded organelle (GO:0043231)	0.6	3	PHEX, CLCN5, DMP1
plasma membrane part (GO:0044459)	1.95	3	PHEX, ENPP1, CLCN5
membrane-bounded organelle (GO:0043227)	0.47	3	PHEX, CLCN5, DMP1
integral component of membrane (GO:0016021)	1.14	3	PHEX, ENPP1, CLCN5
membrane (GO:0016020)	0.68	3	PHEX, ENPP1, CLCN5
extracellular region part (GO:0044421)	1.57	3	FGF23, ENPP1, DMP1
intracellular organelle (GO:0043229)	0.51	3	PHEX, CLCN5, DMP1
extracellular region (GO:0005576)	2.18	3	FGF23, ENPP1, DMP1
integral component of plasma membrane (GO:0005887)	2.57	3	PHEX, ENPP1, CLCN5
plasma membrane (GO:0005886)	1.39	3	PHEX, ENPP1, CLCN5
membrane part (GO:0044425)	0.95	3	PHEX, ENPP1, CLCN5
intrinsic component of plasma membrane (GO:0031226)	2.53	3	PHEX, ENPP1, CLCN5
organelle (GO:0043226)	0.4	3	PHEX, CLCN5, DMP1
intrinsic component of membrane (GO:0031224)	1.13	3	PHEX, ENPP1, CLCN5
Golgi apparatus (GO:0005794)	2.7	2	PHEX, CLCN5
organelle membrane (GO:0031090)	1.97	2	CLCN5, ENPP1
bounding membrane of organelle (GO:0098588)	2.39	2	CLCN5, ENPP1
vacuolar membrane (GO:0005774)	3.45	2	CLCN5, ENPP1
lysosomal membrane (GO:0005765)	4.19	2	CLCN5, ENPP1
Golgi apparatus part (GO:0044431)	3.0	2	FGF23, CLCN5
vacuolar part (GO:0044437)	3.26	2	CLCN5, ENPP1
whole membrane (GO:0098805)	2.85	2	CLCN5, ENPP1
lytic vacuole membrane (GO:0098852)	4.19	2	CLCN5, ENPP1
extracellular space (GO:0005615)	2.63	2	FGF23, ENPP1

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
proteinaceous extracellular matrix (GO:0005578)	NEW	4.01	0.018	FGF23, PHEX, DMP1
extracellular matrix (GO:0031012)	NEW	3.81	0.036	FGF23, PHEX, DMP1