Disease table of OVARIAN DYSGENESIS OMIM ID: PS233300

Gene-disease associations table

Gene	Associated with OVARIAN DYSGENESIS in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
PSMC3IP	OMIM	HGNC link	17q21.2	1	PS233300
MCM9	ClinVar, OMIM	HGNC link	6q22.31	2	PS233300, 311360
BMP15	ClinVar, OMIM, HUMSAVAR	HGNC link	Xp11.22	1	PS233300
FSHR	ClinVar, OMIM, HUMSAVAR	HGNC link	2p16.3	3	PS233300, 608115, 276400

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
FSHR	YES	5	NR5A1, HDAC1, E2F5, MTA2, E2F1	0

Interactions from BIOGRID - physical

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

Shared terms

KEGG term	KEGG term ID	IC	Number of genes with the same term	Genes
Ovarian steroidogenesis	hsa04913	7.07	2	FSHR, BMP15

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
Ovarian steroidogenesis (hsa04913)	-	7.07	0.005	FSHR, BMP15

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	4	PSMC3IP, FSHR, MCM9, BMP15
protein binding (GO:0005515)	0.46	2	FSHR, BMP15
organic cyclic compound binding (GO:0097159)	1.05	2	PSMC3IP, MCM9
heterocyclic compound binding (GO:1901363)	1.06	2	PSMC3IP, MCM9
nucleic acid binding (GO:0003676)	1.44	2	PSMC3IP, MCM9
DNA binding (GO:0003677)	1.92	2	PSMC3IP, MCM9

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
reproductive process (GO:0022414)	2.55	4	PSMC3IP, FSHR, MCM9, BMP15
cellular process (GO:0009987)	0.26	4	PSMC3IP, FSHR, BMP15, MCM9
single organism reproductive process (GO:0044702)	2.73	4	PSMC3IP, FSHR, BMP15, MCM9
single-organism process (GO:0044699)	0.48	4	PSMC3IP, FSHR, MCM9, BMP15
regulation of primary metabolic process (GO:0080090)	1.08	3	PSMC3IP, FSHR, BMP15
regulation of metabolic process (GO:0019222)	1.02	3	PSMC3IP, FSHR, BMP15
regulation of macromolecule metabolic process (GO:0060255)	1.08	3	PSMC3IP, FSHR, BMP15
regulation of cellular biosynthetic process (GO:0031326)	1.38	3	PSMC3IP, FSHR, BMP15
regulation of cellular metabolic process (GO:0031323)	1.07	3	PSMC3IP, FSHR, BMP15
regulation of biosynthetic process (GO:0009889)	1.37	3	PSMC3IP, FSHR, BMP15
regulation of cellular process (GO:0050794)	0.5	3	PSMC3IP, FSHR, BMP15
female gamete generation (GO:0007292)	5.99	3	FSHR, BMP15, MCM9
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	3	PSMC3IP, FSHR, BMP15
biological regulation (GO:0065007)	0.39	3	PSMC3IP, FSHR, BMP15
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	3	PSMC3IP, FSHR, BMP15
single-organism cellular process (GO:0044763)	0.65	3	PSMC3IP, FSHR, BMP15
regulation of biological process (GO:0050789)	0.45	3	PSMC3IP, FSHR, BMP15
gamete generation (GO:0007276)	3.61	3	FSHR, MCM9, BMP15
multicellular organismal reproductive process (GO:0048609)	3.35	3	FSHR, BMP15, MCM9
regulation of RNA metabolic process (GO:0051252)	1.52	2	PSMC3IP, BMP15
regulation of phosphate metabolic process (GO:0019220)	2.35	2	FSHR, BMP15
positive regulation of metabolic process (GO:0009893)	1.74	2	FSHR, BMP15
ovulation cycle process (GO:0022602)	5.25	2	FSHR, BMP15
positive regulation of cellular metabolic process (GO:0031325)	1.81	2	FSHR, BMP15
positive regulation of response to stimulus (GO:0048584)	2.18	2	FSHR, BMP15
cell development (GO:0048468)	3.28	2	FSHR, BMP15
positive regulation of signaling (GO:0023056)	2.41	2	FSHR, BMP15
cellular nitrogen compound metabolic process (GO:0034641)	1.22	2	PSMC3IP, MCM9
nitrogen compound metabolic process (GO:0006807)	1.13	2	PSMC3IP, MCM9
signal transduction (GO:0007165)	1.28	2	FSHR, BMP15
regulation of signaling (GO:0023051)	1.72	2	FSHR, BMP15
positive regulation of cell communication (GO:0010647)	2.41	2	FSHR, BMP15
regulation of cell communication (GO:0010646)	1.73	2	FSHR, BMP15
organic cyclic compound metabolic process (GO:1901360)	1.26	2	PSMC3IP, MCM9
regulation of MAPK cascade (GO:0043408)	3.22	2	FSHR, BMP15
nucleobase-containing compound metabolic process (GO:0006139)	1.35	2	PSMC3IP, MCM9
positive regulation of macromolecule metabolic process (GO:0010604)	1.81	2	FSHR, BMP15
cellular macromolecule metabolic process (GO:0044260)	0.93	2	PSMC3IP, MCM9
organic substance metabolic process (GO:0071704)	0.63	2	PSMC3IP, MCM9
regulation of signal transduction (GO:0009966)	1.84	2	FSHR, BMP15
cellular developmental process (GO:0048869)	1.82	2	FSHR, BMP15
positive regulation of phosphorus metabolic process (GO:0010562)	2.78	2	FSHR, BMP15
regulation of protein metabolic process (GO:0051246)	1.93	2	FSHR, BMP15
positive regulation of protein metabolic process (GO:0051247)	2.43	2	FSHR, BMP15
rhythmic process (GO:0048511)	4.02	2	FSHR, BMP15
positive regulation of cellular protein metabolic process (GO:0032270)	2.49	2	FSHR, BMP15
regulation of protein modification process (GO:0031399)	2.32	2	FSHR, BMP15
positive regulation of biological process (GO:0048518)	1.2	2	FSHR, BMP15
epithelial cell development (GO:0002064)	4.92	2	FSHR, BMP15
developmental process (GO:0032502)	1.36	2	FSHR, BMP15
DNA recombination (GO:0006310)	4.39	2	PSMC3IP, MCM9
reproductive structure development (GO:0048608)	4.08	2	FSHR, BMP15
positive regulation of phosphate metabolic process (GO:0045937)	2.78	2	FSHR, BMP15
primary metabolic process (GO:0044238)	0.69	2	PSMC3IP, MCM9
regulation of response to stimulus (GO:0048583)	1.54	2	FSHR, BMP15
cellular aromatic compound metabolic process (GO:0006725)	1.3	2	PSMC3IP, MCM9
regulation of nucleic acid-templated transcription (GO:1903506)	1.55	2	PSMC3IP, BMP15
regulation of phosphorus metabolic process (GO:0051174)	2.35	2	FSHR, BMP15
developmental process involved in reproduction (GO:0003006)	3.36	2	FSHR, BMP15
ovarian follicle development (GO:0001541)	5.82	2	FSHR, BMP15
metabolic process (GO:0008152)	0.58	2	PSMC3IP, MCM9
regulation of RNA biosynthetic process (GO:2001141)	1.55	2	PSMC3IP, BMP15
regulation of intracellular signal transduction (GO:1902531)	2.31	2	FSHR, BMP15
heterocycle metabolic process (GO:0046483)	1.31	2	PSMC3IP, MCM9
regulation of phosphorylation (GO:0042325)	2.5	2	FSHR, BMP15
nucleic acid metabolic process (GO:0090304)	1.46	2	PSMC3IP, MCM9
positive regulation of phosphorylation (GO:0042327)	2.9	2	FSHR, BMP15
regulation of cellular protein metabolic process (GO:0032268)	1.99	2	FSHR, BMP15
positive regulation of protein modification process (GO:0031401)	2.7	2	FSHR, BMP15
anatomical structure development (GO:0048856)	1.58	2	FSHR, BMP15
cellular metabolic process (GO:0044237)	0.69	2	PSMC3IP, MCM9
macromolecule metabolic process (GO:0043170)	0.83	2	PSMC3IP, MCM9
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	2	PSMC3IP, BMP15
single-organism developmental process (GO:0044767)	1.49	2	FSHR, BMP15
positive regulation of signal transduction (GO:0009967)	2.5	2	FSHR, BMP15
DNA metabolic process (GO:0006259)	3.09	2	PSMC3IP, MCM9
regulation of protein phosphorylation (GO:0001932)	2.57	2	FSHR, BMP15
positive regulation of protein phosphorylation (GO:0001934)	2.95	2	FSHR, BMP15
positive regulation of cellular process (GO:0048522)	1.3	2	FSHR, BMP15

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
female gamete generation (GO:0007292)	-	5.99	0.0	FSHR, BMP15, MCM9
multicellular organismal reproductive process (GO:0048609)	-	3.35	0.009	FSHR, BMP15, MCM9
gamete generation (GO:0007276)	-	3.61	0.004	FSHR, MCM9, BMP15
ovulation cycle process (GO:0022602)	-	5.25	0.01	FSHR, BMP15

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	PSMC3IP, FSHR, BMP15, MCM9
cell part (GO:0044464)	0.11	4	PSMC3IP, FSHR, BMP15, MCM9
intracellular organelle (GO:0043229)	0.51	3	PSMC3IP, FSHR, MCM9
membrane-bounded organelle (GO:0043227)	0.47	3	PSMC3IP, FSHR, MCM9
organelle (GO:0043226)	0.4	3	PSMC3IP, FSHR, MCM9
intracellular membrane-bounded organelle (GO:0043231)	0.6	3	PSMC3IP, FSHR, MCM9
nucleus (GO:0005634)	1.07	2	PSMC3IP, MCM9