Disease table of DEAFNESS, X-LINKED OMIM ID: PS304500

Gene-disease associations table

Gene	Associated with DEAFNESS, X-LINKED in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
SMPX	ClinVar, OMIM	HGNC link	Xp22.12	1	PS304500
COL4A6	ClinVar, OMIM, HUMSAVAR	HGNC link	Xq22.3	1	PS304500
AIFM1	ClinVar, OMIM	HGNC link	Xq26.1	4	PS609060, PS304500, PS609129, PS118220
PRPS1	ClinVar, OMIM, HUMSAVAR	HGNC link	Xq22.3	4	PS118220, PS304500, 300661, PS309510
POU3F4	ClinVar, OMIM, HUMSAVAR	HGNC link	Xq21.1	1	PS304500

Download the disease annotation in CSV format

Relations among genes:

Tandem repeat annotations from DGD

Cytogenetic band analysis

By sub-band

Shared sub_band	Number of genes associated with the disease	Genes associated with the disease
Xq22.3	2	PRPS1, COL4A6

By band

Shared band	Number of genes associated with the disease	Genes associated with the disease
Xq22	2	PRPS1, COL4A6

By region

Shared region	Number of genes associated with the disease	Genes associated with the disease
Xq2	4	POU3F4, AIFM1, COL4A6, PRPS1

By arm

Shared arm	Number of genes associated with the disease	Genes associated with the disease
Xq	4	POU3F4, AIFM1, COL4A6, PRPS1

By chromosome

Shared chromosome	Number of genes associated with the disease	Genes associated with the disease
X	5	SMPX, POU3F4, AIFM1, COL4A6, PRPS1

Transcription Factors (TF) annotation from TRRUST

TF	associated to this disease	# regulated genes	Regulated genes	# regulated genes associated with this disease	Regulated genes associated with this disease
POU3F4	YES	1	GCG	0

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
AIFM1	PRPS1	No	3	NTRK1, PARK2, FBXO6

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

Interactions from BIOGRID - genetic

Interactions from STRING

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: NET-GE enrichment (no shared terms)

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Non-integrin membrane-ECM interactions (R-HSA-3000171)	NEW	7.1	0.014	COL4A6, AIFM1

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
organic cyclic compound binding (GO:0097159)	1.05	3	PRPS1, AIFM1, POU3F4
binding (GO:0005488)	0.18	3	PRPS1, AIFM1, POU3F4
heterocyclic compound binding (GO:1901363)	1.06	3	PRPS1, AIFM1, POU3F4
protein binding (GO:0005515)	0.46	2	PRPS1, AIFM1
nucleotide binding (GO:0000166)	1.96	2	PRPS1, AIFM1
small molecule binding (GO:0036094)	1.89	2	PRPS1, AIFM1
catalytic activity (GO:0003824)	1.05	2	PRPS1, AIFM1
nucleic acid binding (GO:0003676)	1.44	2	AIFM1, POU3F4
DNA binding (GO:0003677)	1.92	2	AIFM1, POU3F4
protein dimerization activity (GO:0046983)	2.72	2	PRPS1, AIFM1
nucleoside phosphate binding (GO:1901265)	1.96	2	PRPS1, AIFM1

GO - biological process annotation: shared terms (no NET-GE enrichment)

Shared terms

GO	IC	Number of genes with the same GO	Genes
organic substance metabolic process (GO:0071704)	0.63	4	PRPS1, COL4A6, AIFM1, POU3F4
cellular process (GO:0009987)	0.26	4	AIFM1, COL4A6, PRPS1, POU3F4
single-organism cellular process (GO:0044763)	0.65	4	PRPS1, COL4A6, AIFM1, POU3F4
single-organism process (GO:0044699)	0.48	4	PRPS1, COL4A6, AIFM1, POU3F4
metabolic process (GO:0008152)	0.58	4	PRPS1, COL4A6, AIFM1, POU3F4
nucleobase-containing compound metabolic process (GO:0006139)	1.35	3	PRPS1, AIFM1, POU3F4
single-organism metabolic process (GO:0044710)	1.63	3	PRPS1, COL4A6, AIFM1
multicellular organismal process (GO:0032501)	1.45	3	COL4A6, POU3F4, SMPX
primary metabolic process (GO:0044238)	0.69	3	PRPS1, AIFM1, POU3F4
cellular aromatic compound metabolic process (GO:0006725)	1.3	3	PRPS1, AIFM1, POU3F4
cellular metabolic process (GO:0044237)	0.69	3	PRPS1, AIFM1, POU3F4
macromolecule metabolic process (GO:0043170)	0.83	3	COL4A6, AIFM1, POU3F4
cellular nitrogen compound metabolic process (GO:0034641)	1.22	3	PRPS1, AIFM1, POU3F4
nitrogen compound metabolic process (GO:0006807)	1.13	3	AIFM1, PRPS1, POU3F4
organic cyclic compound metabolic process (GO:1901360)	1.26	3	PRPS1, AIFM1, POU3F4
heterocycle metabolic process (GO:0046483)	1.31	3	PRPS1, AIFM1, POU3F4
cellular response to endogenous stimulus (GO:0071495)	3.33	2	COL4A6, AIFM1
anatomical structure development (GO:0048856)	1.58	2	PRPS1, POU3F4
regulation of primary metabolic process (GO:0080090)	1.08	2	AIFM1, POU3F4
regulation of metabolic process (GO:0019222)	1.02	2	AIFM1, POU3F4
response to stimulus (GO:0050896)	1.22	2	COL4A6, AIFM1
cell differentiation (GO:0030154)	2.14	2	AIFM1, POU3F4
regulation of cellular metabolic process (GO:0031323)	1.07	2	AIFM1, POU3F4
nucleic acid metabolic process (GO:0090304)	1.46	2	AIFM1, POU3F4
cellular biosynthetic process (GO:0044249)	1.37	2	PRPS1, POU3F4
cellular response to chemical stimulus (GO:0070887)	2.57	2	COL4A6, AIFM1
regulation of cell death (GO:0010941)	2.43	2	AIFM1, POU3F4
regulation of apoptotic process (GO:0042981)	2.5	2	AIFM1, POU3F4
regulation of biological process (GO:0050789)	0.45	2	AIFM1, POU3F4
cellular component organization or biogenesis (GO:0071840)	1.22	2	COL4A6, AIFM1
response to endogenous stimulus (GO:0009719)	2.79	2	COL4A6, AIFM1
organic substance biosynthetic process (GO:1901576)	1.34	2	PRPS1, POU3F4
cellular response to stimulus (GO:0051716)	1.97	2	COL4A6, AIFM1
cellular macromolecule metabolic process (GO:0044260)	0.93	2	AIFM1, POU3F4
cellular developmental process (GO:0048869)	1.82	2	AIFM1, POU3F4
cellular response to organic substance (GO:0071310)	2.78	2	COL4A6, AIFM1
cellular component organization (GO:0016043)	1.24	2	COL4A6, AIFM1
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	2	AIFM1, POU3F4
regulation of programmed cell death (GO:0043067)	2.49	2	AIFM1, POU3F4
animal organ development (GO:0048513)	2.53	2	PRPS1, POU3F4
biological regulation (GO:0065007)	0.39	2	AIFM1, POU3F4
heterocycle biosynthetic process (GO:0018130)	1.7	2	PRPS1, POU3F4
developmental process (GO:0032502)	1.36	2	PRPS1, POU3F4
neuron differentiation (GO:0030182)	4.17	2	AIFM1, POU3F4
regulation of macromolecule metabolic process (GO:0060255)	1.08	2	AIFM1, POU3F4
regulation of cellular process (GO:0050794)	0.5	2	AIFM1, POU3F4
single-organism developmental process (GO:0044767)	1.49	2	PRPS1, POU3F4
biosynthetic process (GO:0009058)	1.32	2	PRPS1, POU3F4
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	2	AIFM1, POU3F4
nucleobase-containing compound biosynthetic process (GO:0034654)	1.72	2	PRPS1, POU3F4
response to chemical (GO:0042221)	1.98	2	COL4A6, AIFM1
catabolic process (GO:0009056)	2.38	2	COL4A6, AIFM1
response to organic substance (GO:0010033)	2.2	2	COL4A6, AIFM1
system process (GO:0003008)	2.3	2	POU3F4, SMPX
response to oxygen-containing compound (GO:1901700)	2.57	2	COL4A6, AIFM1
cellular response to oxygen-containing compound (GO:1901701)	3.22	2	COL4A6, AIFM1
cellular nitrogen compound biosynthetic process (GO:0044271)	1.59	2	PRPS1, POU3F4
response to organonitrogen compound (GO:0010243)	3.2	2	COL4A6, AIFM1
cellular response to nitrogen compound (GO:1901699)	3.79	2	COL4A6, AIFM1
organic cyclic compound biosynthetic process (GO:1901362)	1.66	2	PRPS1, POU3F4
aromatic compound biosynthetic process (GO:0019438)	1.7	2	PRPS1, POU3F4
response to nitrogen compound (GO:1901698)	3.12	2	COL4A6, AIFM1

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	5	PRPS1, COL4A6, AIFM1, POU3F4, SMPX
cell part (GO:0044464)	0.11	5	PRPS1, COL4A6, AIFM1, POU3F4, SMPX
cytoplasmic part (GO:0044444)	0.82	4	PRPS1, COL4A6, AIFM1, SMPX
intracellular membrane-bounded organelle (GO:0043231)	0.6	3	AIFM1, POU3F4, SMPX
nucleus (GO:0005634)	1.07	3	AIFM1, POU3F4, SMPX
intracellular organelle (GO:0043229)	0.51	3	AIFM1, POU3F4, SMPX
membrane-bounded organelle (GO:0043227)	0.47	3	AIFM1, POU3F4, SMPX
organelle (GO:0043226)	0.4	3	AIFM1, POU3F4, SMPX
organelle part (GO:0044422)	0.79	3	COL4A6, AIFM1, SMPX
cytoplasm (GO:0005737)	1.01	2	AIFM1, SMPX
protein complex (GO:0043234)	1.51	2	COL4A6, PRPS1
macromolecular complex (GO:0032991)	1.35	2	COL4A6, PRPS1
organelle lumen (GO:0043233)	3.05	2	COL4A6, AIFM1
integral component of membrane (GO:0016021)	1.14	2	AIFM1, SMPX
membrane (GO:0016020)	0.68	2	AIFM1, SMPX
membrane-enclosed lumen (GO:0031974)	3.05	2	COL4A6, AIFM1
intracellular organelle part (GO:0044446)	0.81	2	COL4A6, AIFM1
intracellular organelle lumen (GO:0070013)	3.05	2	COL4A6, AIFM1
membrane part (GO:0044425)	0.95	2	AIFM1, SMPX
cytosol (GO:0005829)	1.68	2	PRPS1, AIFM1
intrinsic component of membrane (GO:0031224)	1.13	2	AIFM1, SMPX