Disease table of NEPHROLITHIASIS, CALCIUM OXALATE OMIM ID: 167030

Gene-disease associations table

Gene	Associated with NEPHROLITHIASIS, CALCIUM OXALATE in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
BGLAP	ClinVar	HGNC link	1q22	1	167030
HAO1	ClinVar	HGNC link	20p12.3	1	167030
AHSG	ClinVar	HGNC link	3q27.3	1	167030
CD44	ClinVar	HGNC link	11p13	2	167030, 609027

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

Transcription Factors (TF) annotation from TRRUST

regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
BGLAP	YES	11	NR3C1, VDR, ATF4, ATF6, SMAD4, GTF2F1, SMAD3, TP53, EP300, MSX2, RARG	0
CD44	YES	12	SP1, SMARCA1, TWIST2, SMARCA4, HDAC1, SNAI2, TWIST1, IKBKB, HMGA1, CTNNB1, SMARCB1, MYCN	0

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
AHSG	CD44	No	1	ATF2

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

Interactions from BIOGRID - genetic

Interactions from STRING

Gene1	Gene2	Direct Interaction	Interaction mode	Number of shared interactors	Shared genes in interaction
BGLAP	AHSG	No	-	2	BMP2, BMP4
BGLAP	CD44	No	-	1	RUNX2

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 (no NET-GE enrichment)

Shared terms

REACTOME term	REACTOME term ID	IC	Number of genes with the same term	Genes
Metabolism	R-HSA-1430728	2.34	2	CD44, HAO1

GO - molecular function annotation: shared terms (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	3	CD44, BGLAP, HAO1
carbohydrate derivative binding (GO:0097367)	2.03	2	CD44, HAO1
catalytic activity (GO:0003824)	1.05	2	HAO1, CD44
protein binding (GO:0005515)	0.46	2	CD44, HAO1

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
response to stimulus (GO:0050896)	1.22	4	CD44, BGLAP, HAO1, AHSG
cellular process (GO:0009987)	0.26	4	CD44, BGLAP, HAO1, AHSG
single-organism cellular process (GO:0044763)	0.65	4	CD44, BGLAP, HAO1, AHSG
single-organism process (GO:0044699)	0.48	4	CD44, BGLAP, HAO1, AHSG
developmental process (GO:0032502)	1.36	3	CD44, BGLAP, AHSG
anatomical structure development (GO:0048856)	1.58	3	CD44, BGLAP, AHSG
regulation of cellular process (GO:0050794)	0.5	3	CD44, BGLAP, AHSG
organic substance metabolic process (GO:0071704)	0.63	3	HAO1, BGLAP, CD44
biological regulation (GO:0065007)	0.39	3	CD44, BGLAP, AHSG
metabolic process (GO:0008152)	0.58	3	CD44, BGLAP, HAO1
regulation of biological process (GO:0050789)	0.45	3	CD44, BGLAP, AHSG
negative regulation of metabolic process (GO:0009892)	1.93	2	CD44, AHSG
regulation of primary metabolic process (GO:0080090)	1.08	2	CD44, AHSG
regulation of metabolic process (GO:0019222)	1.02	2	CD44, AHSG
negative regulation of response to stimulus (GO:0048585)	2.52	2	CD44, AHSG
negative regulation of cellular metabolic process (GO:0031324)	2.01	2	CD44, AHSG
regulation of response to stimulus (GO:0048583)	1.54	2	CD44, AHSG
organic substance catabolic process (GO:1901575)	2.45	2	HAO1, CD44
skeletal system development (GO:0001501)	4.49	2	BGLAP, AHSG
nitrogen compound metabolic process (GO:0006807)	1.13	2	CD44, BGLAP
negative regulation of cell communication (GO:0010648)	2.66	2	CD44, AHSG
cellular response to chemical stimulus (GO:0070887)	2.57	2	CD44, BGLAP
regulation of signaling (GO:0023051)	1.72	2	CD44, AHSG
regulation of bone mineralization (GO:0030500)	5.49	2	BGLAP, AHSG
regulation of phosphate metabolic process (GO:0019220)	2.35	2	CD44, AHSG
regulation of cell communication (GO:0010646)	1.73	2	CD44, AHSG
negative regulation of catalytic activity (GO:0043086)	3.0	2	CD44, AHSG
response to endogenous stimulus (GO:0009719)	2.79	2	CD44, BGLAP
cellular response to stimulus (GO:0051716)	1.97	2	CD44, BGLAP
negative regulation of macromolecule metabolic process (GO:0010605)	2.01	2	CD44, AHSG
negative regulation of hydrolase activity (GO:0051346)	3.74	2	CD44, AHSG
negative regulation of signal transduction (GO:0009968)	2.75	2	CD44, AHSG
regulation of signal transduction (GO:0009966)	1.84	2	CD44, AHSG
cellular response to growth factor stimulus (GO:0071363)	4.27	2	CD44, BGLAP
regulation of protein metabolic process (GO:0051246)	1.93	2	CD44, AHSG
response to growth factor (GO:0070848)	4.14	2	CD44, BGLAP
localization (GO:0051179)	1.4	2	BGLAP, AHSG
regulation of endopeptidase activity (GO:0052548)	3.8	2	CD44, AHSG
cellular response to organic substance (GO:0071310)	2.78	2	CD44, BGLAP
animal organ development (GO:0048513)	2.53	2	CD44, BGLAP
negative regulation of molecular function (GO:0044092)	2.74	2	CD44, AHSG
positive regulation of biological process (GO:0048518)	1.2	2	CD44, AHSG
negative regulation of biological process (GO:0048519)	1.33	2	CD44, AHSG
regulation of molecular function (GO:0065009)	1.78	2	CD44, AHSG
biological adhesion (GO:0022610)	2.81	2	CD44, BGLAP
regulation of hydrolase activity (GO:0051336)	2.53	2	CD44, AHSG
transport (GO:0006810)	1.51	2	BGLAP, AHSG
regulation of peptidase activity (GO:0052547)	3.75	2	CD44, AHSG
regulation of developmental process (GO:0050793)	2.1	2	BGLAP, AHSG
regulation of cellular metabolic process (GO:0031323)	1.07	2	CD44, AHSG
multicellular organismal process (GO:0032501)	1.45	2	BGLAP, AHSG
regulation of catalytic activity (GO:0050790)	1.97	2	CD44, AHSG
regulation of biomineral tissue development (GO:0070167)	5.41	2	BGLAP, AHSG
regulation of phosphorus metabolic process (GO:0051174)	2.35	2	CD44, AHSG
response to stress (GO:0006950)	1.8	2	HAO1, AHSG
regulation of proteolysis (GO:0030162)	3.2	2	CD44, AHSG
regulation of multicellular organismal process (GO:0051239)	1.87	2	BGLAP, AHSG
cell adhesion (GO:0007155)	2.82	2	CD44, BGLAP
negative regulation of endopeptidase activity (GO:0010951)	4.26	2	CD44, AHSG
response to chemical (GO:0042221)	1.98	2	CD44, BGLAP
regulation of ossification (GO:0030278)	4.53	2	BGLAP, AHSG
establishment of localization (GO:0051234)	1.48	2	BGLAP, AHSG
catabolic process (GO:0009056)	2.38	2	HAO1, CD44
response to organic substance (GO:0010033)	2.2	2	CD44, BGLAP
regulation of phosphorylation (GO:0042325)	2.5	2	CD44, AHSG
primary metabolic process (GO:0044238)	0.69	2	HAO1, BGLAP
negative regulation of cellular protein metabolic process (GO:0032269)	2.88	2	CD44, AHSG
regulation of cellular protein metabolic process (GO:0032268)	1.99	2	CD44, AHSG
organonitrogen compound metabolic process (GO:1901564)	2.32	2	CD44, BGLAP
vesicle-mediated transport (GO:0016192)	2.72	2	BGLAP, AHSG
single-multicellular organism process (GO:0044707)	1.78	2	BGLAP, AHSG
negative regulation of signaling (GO:0023057)	2.65	2	CD44, AHSG
regulation of macromolecule metabolic process (GO:0060255)	1.08	2	CD44, AHSG
regulation of response to stress (GO:0080134)	2.53	2	CD44, AHSG
cellular metabolic process (GO:0044237)	0.69	2	HAO1, BGLAP
macromolecule metabolic process (GO:0043170)	0.83	2	CD44, BGLAP
ossification (GO:0001503)	4.86	2	BGLAP, AHSG
regulation of multicellular organismal development (GO:2000026)	2.31	2	BGLAP, AHSG
negative regulation of protein metabolic process (GO:0051248)	2.82	2	CD44, AHSG
system development (GO:0048731)	2.92	2	BGLAP, AHSG
negative regulation of proteolysis (GO:0045861)	3.98	2	CD44, AHSG
negative regulation of peptidase activity (GO:0010466)	4.22	2	CD44, AHSG
negative regulation of cellular process (GO:0048523)	1.41	2	CD44, AHSG
positive regulation of cellular process (GO:0048522)	1.3	2	CD44, AHSG

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
regulation of bone mineralization (GO:0030500)	-	5.49	0.027	BGLAP, AHSG
regulation of biomineral tissue development (GO:0070167)	-	5.41	0.032	BGLAP, AHSG

GO - cellular component annotation: shared terms (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
intracellular part (GO:0044424)	0.28	4	HAO1, BGLAP, CD44, AHSG
cell part (GO:0044464)	0.11	4	HAO1, BGLAP, CD44, AHSG
cytoplasmic part (GO:0044444)	0.82	4	HAO1, BGLAP, CD44, AHSG
membrane-bounded organelle (GO:0043227)	0.47	4	HAO1, BGLAP, CD44, AHSG
organelle (GO:0043226)	0.4	4	HAO1, BGLAP, CD44, AHSG
intracellular membrane-bounded organelle (GO:0043231)	0.6	3	HAO1, BGLAP, CD44
organelle lumen (GO:0043233)	3.05	3	HAO1, BGLAP, AHSG
membrane-enclosed lumen (GO:0031974)	3.05	3	HAO1, BGLAP, AHSG
membrane-bounded vesicle (GO:0031988)	1.71	3	CD44, BGLAP, AHSG
intracellular organelle part (GO:0044446)	0.81	3	HAO1, BGLAP, AHSG
intracellular organelle lumen (GO:0070013)	3.05	3	HAO1, BGLAP, AHSG
intracellular organelle (GO:0043229)	0.51	3	HAO1, BGLAP, CD44
extracellular region part (GO:0044421)	1.57	3	CD44, BGLAP, AHSG
organelle part (GO:0044422)	0.79	3	HAO1, BGLAP, AHSG
vesicle (GO:0031982)	1.64	3	CD44, BGLAP, AHSG
cytoplasm (GO:0005737)	1.01	2	CD44, BGLAP
Golgi apparatus (GO:0005794)	2.7	2	CD44, BGLAP
extracellular organelle (GO:0043230)	1.89	2	CD44, AHSG
extracellular space (GO:0005615)	2.63	2	BGLAP, AHSG
extracellular region (GO:0005576)	2.18	2	BGLAP, AHSG
extracellular vesicle (GO:1903561)	1.89	2	CD44, AHSG
extracellular exosome (GO:0070062)	1.89	2	CD44, AHSG