Disease table of CLEFT PALATE, ISOLATED OMIM ID: 119540

Gene-disease associations table

Gene	Associated with CLEFT PALATE, ISOLATED in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
PDGFRA	ClinVar	HGNC link	4q12	3	119540, 606764, 607685
UBB	OMIM	HGNC link	17p11.2	1	119540

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
PDGFRA	YES	5	CEBPD, PAX1, SMAD4, GLI2, GLI1	0
UBB	YES	1	HSF1	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
PDGFRA	UBB	No	-	17	EPS15, SMURF1, EGFR, WWP1, CBL, EGF, TRAF6, SH3KBP1, UBC, NEDD4L, MDM2, EPN1, ITCH, TGFB1, RNF41, SH3GL2, NEDD4

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: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
MicroRNAs in cancer (hsa05206)	NEW	5.38	0.05	PDGFRA, UBB

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
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	R-HSA-2404192	4.85	2	PDGFRA, UBB
Immune System	R-HSA-168256	2.37	2	PDGFRA, UBB
Gastrin-CREB signalling pathway via PKC and MAPK	R-HSA-881907	4.26	2	PDGFRA, UBB
NCAM signaling for neurite out-growth	R-HSA-375165	4.9	2	PDGFRA, UBB
Signaling by Interleukins	R-HSA-449147	4.71	2	PDGFRA, UBB
GRB2 events in ERBB2 signaling	R-HSA-1963640	5.15	2	PDGFRA, UBB
Frs2-mediated activation	R-HSA-170968	5.12	2	PDGFRA, UBB
Signaling by the B Cell Receptor (BCR)	R-HSA-983705	4.62	2	PDGFRA, UBB
Cytokine Signaling in Immune system	R-HSA-1280215	3.74	2	PDGFRA, UBB
IGF1R signaling cascade	R-HSA-2428924	4.85	2	PDGFRA, UBB
Downstream signal transduction	R-HSA-186763	4.65	2	PDGFRA, UBB
IRS-related events triggered by IGF1R	R-HSA-2428928	4.85	2	PDGFRA, UBB
Signaling by ERBB4	R-HSA-1236394	4.7	2	PDGFRA, UBB
Signaling by Insulin receptor	R-HSA-74752	4.73	2	PDGFRA, UBB
Adaptive Immune System	R-HSA-1280218	3.19	2	PDGFRA, UBB
Developmental Biology	R-HSA-1266738	3.48	2	PDGFRA, UBB
RAF/MAP kinase cascade	R-HSA-5673001	5.15	2	PDGFRA, UBB
Downstream signaling of activated FGFR1	R-HSA-5654687	4.71	2	PDGFRA, UBB
MAPK family signaling cascades	R-HSA-5683057	4.89	2	PDGFRA, UBB
Signaling by Leptin	R-HSA-2586552	5.1	2	PDGFRA, UBB
Signaling by VEGF	R-HSA-194138	4.66	2	PDGFRA, UBB
Signalling to p38 via RIT and RIN	R-HSA-187706	5.12	2	PDGFRA, UBB
FCERI mediated MAPK activation	R-HSA-2871796	4.32	2	PDGFRA, UBB
IRS-mediated signalling	R-HSA-112399	4.87	2	PDGFRA, UBB
FRS-mediated FGFR2 signaling	R-HSA-5654700	5.14	2	PDGFRA, UBB
DAP12 interactions	R-HSA-2172127	4.56	2	PDGFRA, UBB
FRS-mediated FGFR3 signaling	R-HSA-5654706	5.14	2	PDGFRA, UBB
Disease	R-HSA-1643685	3.33	2	PDGFRA, UBB
Downstream signaling events of B Cell Receptor (BCR)	R-HSA-1168372	5.59	2	PDGFRA, UBB
Downstream signaling of activated FGFR3	R-HSA-5654708	4.71	2	PDGFRA, UBB
Insulin receptor signalling cascade	R-HSA-74751	4.85	2	PDGFRA, UBB
Signaling by FGFR4	R-HSA-5654743	4.69	2	PDGFRA, UBB
Signaling by FGFR3	R-HSA-5654741	4.69	2	PDGFRA, UBB
VEGFA-VEGFR2 Pathway	R-HSA-4420097	4.7	2	PDGFRA, UBB
Signaling by FGFR	R-HSA-190236	4.67	2	PDGFRA, UBB
Diseases of signal transduction	R-HSA-5663202	4.89	2	PDGFRA, UBB
Fc epsilon receptor (FCERI) signaling	R-HSA-2454202	4.03	2	PDGFRA, UBB
Interleukin-2 signaling	R-HSA-451927	5.05	2	PDGFRA, UBB
MAPK1/MAPK3 signaling	R-HSA-5684996	5.11	2	PDGFRA, UBB
Interleukin receptor SHC signaling	R-HSA-912526	5.09	2	PDGFRA, UBB
Innate Immune System	R-HSA-168249	3.17	2	PDGFRA, UBB
Signaling by SCF-KIT	R-HSA-1433557	4.73	2	PDGFRA, UBB
SHC1 events in ERBB2 signaling	R-HSA-1250196	5.15	2	PDGFRA, UBB
Signalling to ERKs	R-HSA-187687	5.04	2	PDGFRA, UBB
Signaling by PDGF	R-HSA-186797	4.53	2	PDGFRA, UBB
Signalling to RAS	R-HSA-167044	5.08	2	PDGFRA, UBB
DAP12 signaling	R-HSA-2424491	4.64	2	PDGFRA, UBB
SHC1 events in EGFR signaling	R-HSA-180336	5.15	2	PDGFRA, UBB
Interleukin-3, 5 and GM-CSF signaling	R-HSA-512988	4.99	2	PDGFRA, UBB
Downstream signaling of activated FGFR2	R-HSA-5654696	4.71	2	PDGFRA, UBB
SHC1 events in ERBB4 signaling	R-HSA-1250347	5.15	2	PDGFRA, UBB
Signaling by EGFR	R-HSA-177929	4.59	2	PDGFRA, UBB
NGF signalling via TRKA from the plasma membrane	R-HSA-187037	4.51	2	PDGFRA, UBB
FRS-mediated FGFR1 signaling	R-HSA-5654693	5.14	2	PDGFRA, UBB
Prolonged ERK activation events	R-HSA-169893	5.11	2	PDGFRA, UBB
FRS-mediated FGFR4 signaling	R-HSA-5654712	5.14	2	PDGFRA, UBB
Signalling by NGF	R-HSA-166520	4.23	2	PDGFRA, UBB
Signaling by GPCR	R-HSA-372790	2.68	2	PDGFRA, UBB
Signaling by FGFR2	R-HSA-5654738	4.68	2	PDGFRA, UBB
GRB2 events in EGFR signaling	R-HSA-179812	5.15	2	PDGFRA, UBB
Signaling by FGFR1	R-HSA-5654736	4.69	2	PDGFRA, UBB
ARMS-mediated activation	R-HSA-170984	5.12	2	PDGFRA, UBB
SOS-mediated signalling	R-HSA-112412	5.15	2	PDGFRA, UBB
Downstream signaling of activated FGFR4	R-HSA-5654716	4.71	2	PDGFRA, UBB
Signaling by ERBB2	R-HSA-1227986	4.66	2	PDGFRA, UBB
Axon guidance	R-HSA-422475	3.93	2	PDGFRA, UBB
VEGFR2 mediated cell proliferation	R-HSA-5218921	5.07	2	PDGFRA, UBB
Signal Transduction	R-HSA-162582	1.78	2	PDGFRA, UBB

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	2	PDGFRA, UBB
protein binding (GO:0005515)	0.46	2	PDGFRA, UBB

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
protein tyrosine kinase activity (GO:0004713)	NEW	4.54	0.023	PDGFRA, UBB

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
regulation of phosphate metabolic process (GO:0019220)	2.35	2	PDGFRA, UBB
regulation of primary metabolic process (GO:0080090)	1.08	2	PDGFRA, UBB
regulation of metabolic process (GO:0019222)	1.02	2	PDGFRA, UBB
negative regulation of response to stimulus (GO:0048585)	2.52	2	PDGFRA, UBB
positive regulation of response to stimulus (GO:0048584)	2.18	2	PDGFRA, UBB
regulation of response to stimulus (GO:0048583)	1.54	2	PDGFRA, UBB
signal transduction (GO:0007165)	1.28	2	PDGFRA, UBB
cell surface receptor signaling pathway (GO:0007166)	2.09	2	PDGFRA, UBB
enzyme linked receptor protein signaling pathway (GO:0007167)	3.24	2	PDGFRA, UBB
transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	3.54	2	PDGFRA, UBB
cellular component organization or biogenesis (GO:0071840)	1.22	2	PDGFRA, UBB
cellular response to stimulus (GO:0051716)	1.97	2	PDGFRA, UBB
positive regulation of macromolecule metabolic process (GO:0010604)	1.81	2	PDGFRA, UBB
regulation of signal transduction (GO:0009966)	1.84	2	PDGFRA, UBB
positive regulation of signal transduction (GO:0009967)	2.5	2	PDGFRA, UBB
MAPK cascade (GO:0000165)	3.91	2	PDGFRA, UBB
interspecies interaction between organisms (GO:0044419)	3.08	2	PDGFRA, UBB
positive regulation of molecular function (GO:0044093)	2.23	2	PDGFRA, UBB
positive regulation of biological process (GO:0048518)	1.2	2	PDGFRA, UBB
negative regulation of biological process (GO:0048519)	1.33	2	PDGFRA, UBB
regulation of macromolecule metabolic process (GO:0060255)	1.08	2	PDGFRA, UBB
multi-organism process (GO:0051704)	2.65	2	PDGFRA, UBB
regulation of phosphorylation (GO:0042325)	2.5	2	PDGFRA, UBB
positive regulation of phosphorylation (GO:0042327)	2.9	2	PDGFRA, UBB
protein metabolic process (GO:0019538)	1.45	2	PDGFRA, UBB
cellular response to stress (GO:0033554)	2.51	2	PDGFRA, UBB
cellular component assembly (GO:0022607)	2.14	2	PDGFRA, UBB
positive regulation of metabolic process (GO:0009893)	1.74	2	PDGFRA, UBB
positive regulation of biosynthetic process (GO:0009891)	2.29	2	PDGFRA, UBB
movement of cell or subcellular component (GO:0006928)	2.61	2	PDGFRA, UBB
intracellular signal transduction (GO:0035556)	2.39	2	PDGFRA, UBB
regulation of biological process (GO:0050789)	0.45	2	PDGFRA, UBB
cellular protein metabolic process (GO:0044267)	1.63	2	PDGFRA, UBB
anatomical structure morphogenesis (GO:0009653)	2.53	2	PDGFRA, UBB
positive regulation of transferase activity (GO:0051347)	3.31	2	PDGFRA, UBB
cellular macromolecule metabolic process (GO:0044260)	0.93	2	PDGFRA, UBB
regulation of kinase activity (GO:0043549)	3.07	2	PDGFRA, UBB
cellular component organization (GO:0016043)	1.24	2	PDGFRA, UBB
biological regulation (GO:0065007)	0.39	2	PDGFRA, UBB
single-organism process (GO:0044699)	0.48	2	PDGFRA, UBB
regulation of molecular function (GO:0065009)	1.78	2	PDGFRA, UBB
regulation of biological quality (GO:0065008)	1.68	2	PDGFRA, UBB
regulation of catalytic activity (GO:0050790)	1.97	2	PDGFRA, UBB
regulation of biosynthetic process (GO:0009889)	1.37	2	PDGFRA, UBB
single-organism metabolic process (GO:0044710)	1.63	2	PDGFRA, UBB
regulation of cellular process (GO:0050794)	0.5	2	PDGFRA, UBB
positive regulation of MAPK cascade (GO:0043410)	3.57	2	PDGFRA, UBB
macromolecule modification (GO:0043412)	1.73	2	PDGFRA, UBB
protein modification process (GO:0036211)	1.79	2	PDGFRA, UBB
regulation of multicellular organismal process (GO:0051239)	1.87	2	PDGFRA, UBB
positive regulation of intracellular signal transduction (GO:1902533)	2.95	2	PDGFRA, UBB
regulation of intracellular signal transduction (GO:1902531)	2.31	2	PDGFRA, UBB
single-organism developmental process (GO:0044767)	1.49	2	PDGFRA, UBB
response to stimulus (GO:0050896)	1.22	2	PDGFRA, UBB
positive regulation of protein modification process (GO:0031401)	2.7	2	PDGFRA, UBB
response to stress (GO:0006950)	1.8	2	PDGFRA, UBB
regulation of transferase activity (GO:0051338)	2.88	2	PDGFRA, UBB
positive regulation of macromolecule biosynthetic process (GO:0010557)	2.39	2	PDGFRA, UBB
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	2	PDGFRA, UBB
positive regulation of kinase activity (GO:0033674)	3.54	2	PDGFRA, UBB
metabolic process (GO:0008152)	0.58	2	PDGFRA, UBB
phosphorylation (GO:0016310)	2.63	2	PDGFRA, UBB
positive regulation of signaling (GO:0023056)	2.41	2	PDGFRA, UBB
regulation of signaling (GO:0023051)	1.72	2	PDGFRA, UBB
positive regulation of cell communication (GO:0010647)	2.41	2	PDGFRA, UBB
regulation of cell communication (GO:0010646)	1.73	2	PDGFRA, UBB
positive regulation of catalytic activity (GO:0043085)	2.4	2	PDGFRA, UBB
regulation of MAPK cascade (GO:0043408)	3.22	2	PDGFRA, UBB
positive regulation of phosphorus metabolic process (GO:0010562)	2.78	2	PDGFRA, UBB
negative regulation of multicellular organismal process (GO:0051241)	2.84	2	PDGFRA, UBB
regulation of protein metabolic process (GO:0051246)	1.93	2	PDGFRA, UBB
positive regulation of protein metabolic process (GO:0051247)	2.43	2	PDGFRA, UBB
positive regulation of cellular protein metabolic process (GO:0032270)	2.49	2	PDGFRA, UBB
regulation of protein modification process (GO:0031399)	2.32	2	PDGFRA, UBB
signal transduction by protein phosphorylation (GO:0023014)	3.79	2	PDGFRA, UBB
developmental process (GO:0032502)	1.36	2	PDGFRA, UBB
cellular process (GO:0009987)	0.26	2	PDGFRA, UBB
regulation of cellular protein metabolic process (GO:0032268)	1.99	2	PDGFRA, UBB
macromolecule metabolic process (GO:0043170)	0.83	2	PDGFRA, UBB
regulation of response to stress (GO:0080134)	2.53	2	PDGFRA, UBB
positive regulation of cellular biosynthetic process (GO:0031328)	2.3	2	PDGFRA, UBB
regulation of cellular biosynthetic process (GO:0031326)	1.38	2	PDGFRA, UBB
positive regulation of cellular metabolic process (GO:0031325)	1.81	2	PDGFRA, UBB
regulation of cellular metabolic process (GO:0031323)	1.07	2	PDGFRA, UBB
regulation of cellular macromolecule biosynthetic process (GO:2000112)	1.46	2	PDGFRA, UBB
organic substance metabolic process (GO:0071704)	0.63	2	PDGFRA, UBB
protein phosphorylation (GO:0006468)	2.89	2	PDGFRA, UBB
positive regulation of nucleobase-containing compound metabolic process (GO:0045935)	2.35	2	PDGFRA, UBB
positive regulation of phosphate metabolic process (GO:0045937)	2.78	2	PDGFRA, UBB
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	2	PDGFRA, UBB
cellular protein modification process (GO:0006464)	1.79	2	PDGFRA, UBB
regulation of phosphorus metabolic process (GO:0051174)	2.35	2	PDGFRA, UBB
multi-organism cellular process (GO:0044764)	3.14	2	PDGFRA, UBB
single-organism cellular process (GO:0044763)	0.65	2	PDGFRA, UBB
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	2	PDGFRA, UBB
positive regulation of nitrogen compound metabolic process (GO:0051173)	2.29	2	PDGFRA, UBB
organelle organization (GO:0006996)	2.02	2	PDGFRA, UBB
primary metabolic process (GO:0044238)	0.69	2	PDGFRA, UBB
cellular metabolic process (GO:0044237)	0.69	2	PDGFRA, UBB
phosphate-containing compound metabolic process (GO:0006796)	2.16	2	PDGFRA, UBB
viral process (GO:0016032)	3.15	2	PDGFRA, UBB
phosphorus metabolic process (GO:0006793)	2.15	2	PDGFRA, UBB
symbiosis, encompassing mutualism through parasitism (GO:0044403)	3.15	2	PDGFRA, UBB
regulation of protein phosphorylation (GO:0001932)	2.57	2	PDGFRA, UBB
positive regulation of protein phosphorylation (GO:0001934)	2.95	2	PDGFRA, UBB
negative regulation of cellular process (GO:0048523)	1.41	2	PDGFRA, UBB
positive regulation of cellular process (GO:0048522)	1.3	2	PDGFRA, UBB

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
fibroblast growth factor receptor signaling pathway (GO:0008543)	NEW	5.3	0.045	PDGFRA, UBB

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
cytoplasm (GO:0005737)	1.01	2	PDGFRA, UBB
intracellular membrane-bounded organelle (GO:0043231)	0.6	2	PDGFRA, UBB
nucleus (GO:0005634)	1.07	2	PDGFRA, UBB
membrane (GO:0016020)	0.68	2	PDGFRA, UBB
cell part (GO:0044464)	0.11	2	PDGFRA, UBB
intracellular organelle (GO:0043229)	0.51	2	PDGFRA, UBB
plasma membrane (GO:0005886)	1.39	2	PDGFRA, UBB
intracellular part (GO:0044424)	0.28	2	PDGFRA, UBB
membrane-bounded organelle (GO:0043227)	0.47	2	PDGFRA, UBB
organelle (GO:0043226)	0.4	2	PDGFRA, UBB