Disease table of RENAL HYPODYSPLASIA/APLASIA 1 OMIM ID: 191830

Gene-disease associations table

Gene	Associated with RENAL HYPODYSPLASIA/APLASIA 1 in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
ITGA8	ClinVar, OMIM, HUMSAVAR	HGNC link	10p13	1	191830
RET	ClinVar, OMIM	HGNC link	10q11.21	6	171300, 155240, PS142623, 209880, 191830, PS131100
UPK3A	ClinVar	HGNC link	22q13.31	2	PS610805, 191830

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
10	2	RET, ITGA8

Transcription Factors (TF) annotation from TRRUST

regulated gene	associated to this disease	# TFs	TFs	# TFs associated with this disease	TFs associated with this disease
RET	YES	5	TFAP2C, SOX9, ESR1, SOX10, FOXA1	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
ITGA8	RET	No	-	4	SRC, PXN, CRK, BCAR1

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 (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
binding (GO:0005488)	0.18	3	RET, UPK3A, ITGA8
cation binding (GO:0043169)	1.4	2	RET, ITGA8
metal ion binding (GO:0046872)	1.41	2	RET, ITGA8
protein binding (GO:0005515)	0.46	2	RET, UPK3A
ion binding (GO:0043167)	1.36	2	RET, ITGA8

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
developmental process (GO:0032502)	1.36	3	RET, UPK3A, ITGA8
cellular process (GO:0009987)	0.26	3	RET, UPK3A, ITGA8
cellular developmental process (GO:0048869)	1.82	3	RET, UPK3A, ITGA8
cell differentiation (GO:0030154)	2.14	3	RET, UPK3A, ITGA8
kidney development (GO:0001822)	4.79	3	RET, UPK3A, ITGA8
cellular component organization (GO:0016043)	1.24	3	RET, UPK3A, ITGA8
single-organism developmental process (GO:0044767)	1.49	3	RET, UPK3A, ITGA8
animal organ development (GO:0048513)	2.53	3	RET, UPK3A, ITGA8
biological regulation (GO:0065007)	0.39	3	RET, UPK3A, ITGA8
single-organism process (GO:0044699)	0.48	3	RET, UPK3A, ITGA8
single-organism cellular process (GO:0044763)	0.65	3	RET, UPK3A, ITGA8
anatomical structure morphogenesis (GO:0009653)	2.53	3	RET, UPK3A, ITGA8
cellular component organization or biogenesis (GO:0071840)	1.22	3	RET, UPK3A, ITGA8
anatomical structure development (GO:0048856)	1.58	3	RET, UPK3A, ITGA8
single organismal cell-cell adhesion (GO:0016337)	3.69	2	RET, ITGA8
positive regulation of metabolic process (GO:0009893)	1.74	2	RET, ITGA8
regulation of metabolic process (GO:0019222)	1.02	2	RET, ITGA8
positive regulation of biosynthetic process (GO:0009891)	2.29	2	RET, ITGA8
regulation of cellular biosynthetic process (GO:0031326)	1.38	2	RET, ITGA8
positive regulation of cellular metabolic process (GO:0031325)	1.81	2	RET, ITGA8
positive regulation of response to stimulus (GO:0048584)	2.18	2	RET, ITGA8
regulation of response to stimulus (GO:0048583)	1.54	2	RET, ITGA8
positive regulation of signaling (GO:0023056)	2.41	2	RET, ITGA8
positive regulation of gene expression (GO:0010628)	2.35	2	RET, ITGA8
signal transduction (GO:0007165)	1.28	2	RET, ITGA8
cell surface receptor signaling pathway (GO:0007166)	2.09	2	RET, ITGA8
regulation of signaling (GO:0023051)	1.72	2	RET, ITGA8
positive regulation of cell communication (GO:0010647)	2.41	2	RET, ITGA8
regulation of cell communication (GO:0010646)	1.73	2	RET, ITGA8
regulation of biological process (GO:0050789)	0.45	2	RET, ITGA8
regulation of primary metabolic process (GO:0080090)	1.08	2	RET, ITGA8
positive regulation of macromolecule metabolic process (GO:0010604)	1.81	2	RET, ITGA8
regulation of signal transduction (GO:0009966)	1.84	2	RET, ITGA8
positive regulation of signal transduction (GO:0009967)	2.5	2	RET, ITGA8
positive regulation of cellular biosynthetic process (GO:0031328)	2.3	2	RET, ITGA8
regulation of cellular macromolecule biosynthetic process (GO:2000112)	1.46	2	RET, ITGA8
cellular component morphogenesis (GO:0032989)	3.5	2	UPK3A, ITGA8
regulation of macromolecule metabolic process (GO:0060255)	1.08	2	RET, ITGA8
positive regulation of biological process (GO:0048518)	1.2	2	RET, ITGA8
regulation of biological quality (GO:0065008)	1.68	2	RET, UPK3A
regulation of gene expression (GO:0010468)	1.37	2	RET, ITGA8
positive regulation of nucleic acid-templated transcription (GO:1903508)	2.56	2	RET, ITGA8
single organism cell adhesion (GO:0098602)	3.63	2	RET, ITGA8
positive regulation of nucleobase-containing compound metabolic process (GO:0045935)	2.35	2	RET, ITGA8
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	2	RET, ITGA8
regulation of cellular metabolic process (GO:0031323)	1.07	2	RET, ITGA8
multicellular organismal process (GO:0032501)	1.45	2	RET, ITGA8
regulation of biosynthetic process (GO:0009889)	1.37	2	RET, ITGA8
tissue development (GO:0009888)	3.27	2	RET, ITGA8
regulation of nucleic acid-templated transcription (GO:1903506)	1.55	2	RET, ITGA8
regulation of cellular process (GO:0050794)	0.5	2	RET, ITGA8
positive regulation of nitrogen compound metabolic process (GO:0051173)	2.29	2	RET, ITGA8
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	2	RET, ITGA8
metanephros development (GO:0001656)	6.02	2	RET, ITGA8
regulation of RNA biosynthetic process (GO:2001141)	1.55	2	RET, ITGA8
cell adhesion (GO:0007155)	2.82	2	RET, ITGA8
establishment of localization (GO:0051234)	1.48	2	UPK3A, ITGA8
localization (GO:0051179)	1.4	2	UPK3A, ITGA8
cell morphogenesis (GO:0000902)	4.35	2	UPK3A, ITGA8
biological adhesion (GO:0022610)	2.81	2	RET, ITGA8
nervous system development (GO:0007399)	3.53	2	RET, ITGA8
single-multicellular organism process (GO:0044707)	1.78	2	RET, ITGA8
regulation of RNA metabolic process (GO:0051252)	1.52	2	RET, ITGA8
positive regulation of RNA metabolic process (GO:0051254)	2.51	2	RET, ITGA8
positive regulation of RNA biosynthetic process (GO:1902680)	2.54	2	RET, ITGA8
regulation of transcription, DNA-templated (GO:0006355)	1.56	2	RET, ITGA8
positive regulation of macromolecule biosynthetic process (GO:0010557)	2.39	2	RET, ITGA8
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	2	RET, ITGA8
system development (GO:0048731)	2.92	2	RET, ITGA8
positive regulation of cellular process (GO:0048522)	1.3	2	RET, ITGA8
cell-cell adhesion (GO:0098609)	3.34	2	RET, ITGA8
positive regulation of transcription, DNA-templated (GO:0045893)	2.56	2	RET, ITGA8

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
cell morphogenesis (GO:0000902)	-	4.35	0.022	RET, UPK3A, ITGA8
kidney development (GO:0001822)	-	4.79	0.0	RET, UPK3A, ITGA8
metanephros development (GO:0001656)	-	6.02	0.039	RET, ITGA8
ureteric bud development (GO:0001657)	NEW	5.97	0.043	RET, ITGA8

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
intracellular membrane-bounded organelle (GO:0043231)	0.6	3	RET, UPK3A, ITGA8
plasma membrane part (GO:0044459)	1.95	3	RET, UPK3A, ITGA8
integral component of membrane (GO:0016021)	1.14	3	RET, UPK3A, ITGA8
membrane (GO:0016020)	0.68	3	RET, UPK3A, ITGA8
cell part (GO:0044464)	0.11	3	RET, UPK3A, ITGA8
cytoplasmic part (GO:0044444)	0.82	3	RET, UPK3A, ITGA8
intracellular organelle (GO:0043229)	0.51	3	RET, UPK3A, ITGA8
intracellular part (GO:0044424)	0.28	3	RET, UPK3A, ITGA8
membrane part (GO:0044425)	0.95	3	RET, UPK3A, ITGA8
membrane-bounded organelle (GO:0043227)	0.47	3	RET, UPK3A, ITGA8
organelle (GO:0043226)	0.4	3	RET, UPK3A, ITGA8
intrinsic component of membrane (GO:0031224)	1.13	3	RET, UPK3A, ITGA8
protein complex (GO:0043234)	1.51	2	RET, ITGA8
plasma membrane region (GO:0098590)	2.97	2	UPK3A, ITGA8
macromolecular complex (GO:0032991)	1.35	2	RET, ITGA8
endoplasmic reticulum (GO:0005783)	2.56	2	UPK3A, ITGA8
receptor complex (GO:0043235)	4.01	2	RET, ITGA8
intracellular organelle part (GO:0044446)	0.81	2	RET, UPK3A
neuron part (GO:0097458)	2.64	2	RET, ITGA8
plasma membrane (GO:0005886)	1.39	2	RET, ITGA8
organelle part (GO:0044422)	0.79	2	RET, UPK3A

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
receptor complex (GO:0043235)	-	4.01	0.033	RET, ITGA8