Disease table of MICROPHTHALMIA, ISOLATED OMIM ID: PS251600

Gene-disease associations table

Gene	Associated with MICROPHTHALMIA, ISOLATED in	Link to HGNC	Cytogenetic band	Number of associated diseases	Associated diseases
PRSS56	ClinVar, OMIM, HUMSAVAR	HGNC link	2q37.1	1	PS251600
MFRP	ClinVar, OMIM	HGNC link	11q23.3	2	PS251600, PS600165
GDF3	ClinVar, OMIM, HUMSAVAR	HGNC link	12p13.31	4	PS300345, PS118100, 120200, PS251600
GDF6	ClinVar, OMIM, HUMSAVAR	HGNC link	8q22.1	4	PS300345, PS118100, PS204000, PS251600
VSX2	ClinVar, OMIM, HUMSAVAR	HGNC link	14q24.3	2	PS251600, PS300345
RAX	ClinVar, OMIM, HUMSAVAR	HGNC link	18q21.32	1	PS251600
ALDH1A3	ClinVar, OMIM, HUMSAVAR	HGNC link	15q26.3	1	PS251600

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
GDF3	YES	1	NANOG
VSX2	YES	1	NEUROG3
ALDH1A3	YES	1	AR

Interactions from BIOGRID - physical

Gene1	Gene2	Direct Interaction	Number of shared interactors	Shared genes in interaction
VSX2	RAX	No	1	PAX6

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: 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	5	VSX2, RAX, ALDH1A3, GDF6, GDF3
organic cyclic compound binding (GO:0097159)	1.05	3	RAX, ALDH1A3, VSX2
heterocyclic compound binding (GO:1901363)	1.06	3	RAX, ALDH1A3, VSX2
protein binding (GO:0005515)	0.46	3	ALDH1A3, GDF6, GDF3
cytokine receptor binding (GO:0005126)	4.14	2	GDF6, GDF3
sequence-specific DNA binding (GO:0043565)	2.79	2	RAX, VSX2
cytokine activity (GO:0005125)	4.34	2	GDF6, GDF3
growth factor activity (GO:0008083)	4.66	2	GDF6, GDF3
transforming growth factor beta receptor binding (GO:0005160)	5.81	2	GDF6, GDF3
catalytic activity (GO:0003824)	1.05	2	PRSS56, ALDH1A3
nucleic acid binding (GO:0003676)	1.44	2	RAX, VSX2
DNA binding (GO:0003677)	1.92	2	RAX, VSX2
protein dimerization activity (GO:0046983)	2.72	2	ALDH1A3, GDF6
receptor binding (GO:0005102)	2.43	2	GDF6, GDF3
identical protein binding (GO:0042802)	2.63	2	ALDH1A3, GDF6
protein homodimerization activity (GO:0042803)	3.16	2	ALDH1A3, GDF6

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
single-organism developmental process (GO:0044767)	1.49	7	RAX, MFRP, VSX2, ALDH1A3, GDF3, PRSS56, GDF6
developmental process (GO:0032502)	1.36	7	RAX, MFRP, VSX2, ALDH1A3, GDF3, PRSS56, GDF6
anatomical structure development (GO:0048856)	1.58	7	RAX, MFRP, VSX2, ALDH1A3, GDF3, PRSS56, GDF6
single-organism process (GO:0044699)	0.48	7	RAX, MFRP, VSX2, ALDH1A3, GDF3, PRSS56, GDF6
cellular process (GO:0009987)	0.26	6	RAX, GDF3, VSX2, ALDH1A3, GDF6, MFRP
multicellular organismal process (GO:0032501)	1.45	6	RAX, GDF3, VSX2, ALDH1A3, GDF6, MFRP
primary metabolic process (GO:0044238)	0.69	5	VSX2, PRSS56, ALDH1A3, RAX, GDF6
single-multicellular organism process (GO:0044707)	1.78	5	RAX, GDF6, VSX2, GDF3, MFRP
regulation of biological process (GO:0050789)	0.45	5	VSX2, RAX, ALDH1A3, GDF6, GDF3
organic substance metabolic process (GO:0071704)	0.63	5	RAX, PRSS56, ALDH1A3, VSX2, GDF6
biological regulation (GO:0065007)	0.39	5	VSX2, RAX, ALDH1A3, GDF6, GDF3
metabolic process (GO:0008152)	0.58	5	VSX2, PRSS56, ALDH1A3, RAX, GDF6
regulation of cellular process (GO:0050794)	0.5	5	VSX2, RAX, ALDH1A3, GDF6, GDF3
multicellular organism development (GO:0007275)	2.54	5	RAX, GDF6, VSX2, MFRP, GDF3
regulation of primary metabolic process (GO:0080090)	1.08	4	VSX2, RAX, GDF6, GDF3
regulation of metabolic process (GO:0019222)	1.02	4	VSX2, RAX, GDF6, GDF3
regulation of cellular biosynthetic process (GO:0031326)	1.38	4	VSX2, RAX, GDF6, GDF3
regulation of cellular metabolic process (GO:0031323)	1.07	4	VSX2, RAX, GDF6, GDF3
regulation of cellular macromolecule biosynthetic process (GO:2000112)	1.46	4	VSX2, RAX, GDF6, GDF3
regulation of macromolecule metabolic process (GO:0060255)	1.08	4	VSX2, RAX, GDF6, GDF3
animal organ development (GO:0048513)	2.53	4	PRSS56, ALDH1A3, RAX, GDF3
positive regulation of biological process (GO:0048518)	1.2	4	RAX, ALDH1A3, GDF6, GDF3
regulation of gene expression (GO:0010468)	1.37	4	VSX2, RAX, GDF6, GDF3
regulation of nucleobase-containing compound metabolic process (GO:0019219)	1.43	4	VSX2, RAX, GDF6, GDF3
neurological system process (GO:0050877)	2.64	4	RAX, ALDH1A3, MFRP, VSX2
regulation of biosynthetic process (GO:0009889)	1.37	4	VSX2, RAX, GDF6, GDF3
regulation of nucleic acid-templated transcription (GO:1903506)	1.55	4	VSX2, RAX, GDF6, GDF3
eye development (GO:0001654)	5.07	4	PRSS56, ALDH1A3, RAX, GDF3
regulation of nitrogen compound metabolic process (GO:0051171)	1.36	4	VSX2, RAX, GDF6, GDF3
regulation of RNA biosynthetic process (GO:2001141)	1.55	4	VSX2, RAX, GDF6, GDF3
system process (GO:0003008)	2.3	4	RAX, ALDH1A3, VSX2, MFRP
sensory organ development (GO:0007423)	4.82	4	PRSS56, ALDH1A3, RAX, GDF3
regulation of RNA metabolic process (GO:0051252)	1.52	4	VSX2, RAX, GDF6, GDF3
cellular metabolic process (GO:0044237)	0.69	4	RAX, ALDH1A3, VSX2, GDF6
macromolecule metabolic process (GO:0043170)	0.83	4	VSX2, PRSS56, RAX, GDF6
regulation of transcription, DNA-templated (GO:0006355)	1.56	4	VSX2, RAX, GDF6, GDF3
regulation of macromolecule biosynthetic process (GO:0010556)	1.43	4	VSX2, RAX, GDF6, GDF3
single-organism cellular process (GO:0044763)	0.65	4	GDF6, ALDH1A3, MFRP, GDF3
positive regulation of cellular process (GO:0048522)	1.3	4	RAX, ALDH1A3, GDF6, GDF3
organic substance biosynthetic process (GO:1901576)	1.34	3	RAX, ALDH1A3, VSX2
positive regulation of metabolic process (GO:0009893)	1.74	3	RAX, GDF6, GDF3
cellular macromolecule metabolic process (GO:0044260)	0.93	3	RAX, VSX2, GDF6
cell development (GO:0048468)	3.28	3	MFRP, GDF6, GDF3
response to stimulus (GO:0050896)	1.22	3	ALDH1A3, VSX2, GDF3
visual perception (GO:0007601)	4.41	3	RAX, MFRP, VSX2
sensory perception (GO:0007600)	2.93	3	RAX, VSX2, MFRP
sensory perception of light stimulus (GO:0050953)	4.4	3	RAX, MFRP, VSX2
biosynthetic process (GO:0009058)	1.32	3	RAX, ALDH1A3, VSX2
cellular biosynthetic process (GO:0044249)	1.37	3	RAX, ALDH1A3, VSX2
regulation of programmed cell death (GO:0043067)	2.49	3	ALDH1A3, GDF6, GDF3
regulation of transcription from RNA polymerase II promoter (GO:0006357)	2.24	3	RAX, GDF6, GDF3
cellular developmental process (GO:0048869)	1.82	3	MFRP, GDF6, GDF3
regulation of cell death (GO:0010941)	2.43	3	ALDH1A3, GDF6, GDF3
regulation of apoptotic process (GO:0042981)	2.5	3	ALDH1A3, GDF6, GDF3
positive regulation of cellular metabolic process (GO:0031325)	1.81	3	RAX, GDF6, GDF3
camera-type eye development (GO:0043010)	5.36	3	PRSS56, ALDH1A3, RAX
positive regulation of macromolecule metabolic process (GO:0010604)	1.81	3	RAX, GDF6, GDF3
regulation of phosphate metabolic process (GO:0019220)	2.35	2	GDF6, GDF3
RNA biosynthetic process (GO:0032774)	1.84	2	RAX, VSX2
positive regulation of biosynthetic process (GO:0009891)	2.29	2	RAX, GDF6
embryonic organ development (GO:0048568)	4.86	2	ALDH1A3, GDF3
positive regulation of response to stimulus (GO:0048584)	2.18	2	GDF6, GDF3
regulation of response to stimulus (GO:0048583)	1.54	2	GDF6, GDF3
positive regulation of signaling (GO:0023056)	2.41	2	GDF6, GDF3
embryo development (GO:0009790)	4.2	2	MFRP, GDF3
cellular nitrogen compound metabolic process (GO:0034641)	1.22	2	RAX, VSX2
positive regulation of gene expression (GO:0010628)	2.35	2	RAX, GDF6
signal transduction (GO:0007165)	1.28	2	GDF6, GDF3
cellular macromolecule biosynthetic process (GO:0034645)	1.66	2	RAX, VSX2
regulation of signaling (GO:0023051)	1.72	2	GDF6, GDF3
positive regulation of cell communication (GO:0010647)	2.41	2	GDF6, GDF3
positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)	5.86	2	GDF6, GDF3
organic cyclic compound biosynthetic process (GO:1901362)	1.66	2	RAX, VSX2
nucleic acid-templated transcription (GO:0097659)	1.91	2	RAX, VSX2
regulation of MAPK cascade (GO:0043408)	3.22	2	GDF6, GDF3
nucleobase-containing compound metabolic process (GO:0006139)	1.35	2	RAX, VSX2
regulation of cell communication (GO:0010646)	1.73	2	GDF6, GDF3
growth (GO:0040007)	3.8	2	GDF6, GDF3
positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090100)	5.12	2	GDF6, GDF3
regulation of signal transduction (GO:0009966)	1.84	2	GDF6, GDF3
positive regulation of signal transduction (GO:0009967)	2.5	2	GDF6, GDF3
positive regulation of phosphorus metabolic process (GO:0010562)	2.78	2	GDF6, GDF3
positive regulation of cellular biosynthetic process (GO:0031328)	2.3	2	RAX, GDF6
regulation of protein metabolic process (GO:0051246)	1.93	2	GDF6, GDF3
positive regulation of protein metabolic process (GO:0051247)	2.43	2	GDF6, GDF3
positive regulation of cellular protein metabolic process (GO:0032270)	2.49	2	GDF6, GDF3
organic cyclic compound metabolic process (GO:1901360)	1.26	2	RAX, VSX2
regulation of protein modification process (GO:0031399)	2.32	2	GDF6, GDF3
heterocycle biosynthetic process (GO:0018130)	1.7	2	RAX, VSX2
positive regulation of nucleic acid-templated transcription (GO:1903508)	2.56	2	RAX, GDF6
RNA metabolic process (GO:0016070)	1.59	2	RAX, VSX2
regulation of transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0090092)	4.39	2	GDF6, GDF3
positive regulation of nucleobase-containing compound metabolic process (GO:0045935)	2.35	2	RAX, GDF6
positive regulation of phosphate metabolic process (GO:0045937)	2.78	2	GDF6, GDF3
pattern specification process (GO:0007389)	3.79	2	RAX, GDF3
regulation of developmental process (GO:0050793)	2.1	2	GDF6, GDF3
cellular aromatic compound metabolic process (GO:0006725)	1.3	2	RAX, VSX2
regulation of phosphorus metabolic process (GO:0051174)	2.35	2	GDF6, GDF3
regulation of cell differentiation (GO:0045595)	2.42	2	GDF6, GDF3
macromolecule biosynthetic process (GO:0009059)	1.61	2	RAX, VSX2
positive regulation of transcription, DNA-templated (GO:0045893)	2.56	2	RAX, GDF6
regulation of multicellular organismal process (GO:0051239)	1.87	2	GDF6, GDF3
positive regulation of nitrogen compound metabolic process (GO:0051173)	2.29	2	RAX, GDF6
nucleobase-containing compound biosynthetic process (GO:0034654)	1.72	2	RAX, VSX2
regulation of intracellular signal transduction (GO:1902531)	2.31	2	GDF6, GDF3
heterocycle metabolic process (GO:0046483)	1.31	2	RAX, VSX2
regulation of phosphorylation (GO:0042325)	2.5	2	GDF6, GDF3
nucleic acid metabolic process (GO:0090304)	1.46	2	RAX, VSX2
positive regulation of phosphorylation (GO:0042327)	2.9	2	GDF6, GDF3
regulation of cellular protein metabolic process (GO:0032268)	1.99	2	GDF6, GDF3
cellular nitrogen compound biosynthetic process (GO:0044271)	1.59	2	RAX, VSX2
response to external stimulus (GO:0009605)	2.55	2	ALDH1A3, GDF3
protein metabolic process (GO:0019538)	1.45	2	PRSS56, GDF6
SMAD protein signal transduction (GO:0060395)	5.65	2	GDF6, GDF3
positive regulation of protein modification process (GO:0031401)	2.7	2	GDF6, GDF3
positive regulation of RNA metabolic process (GO:0051254)	2.51	2	RAX, GDF6
regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)	5.63	2	GDF6, GDF3
positive regulation of RNA biosynthetic process (GO:1902680)	2.54	2	RAX, GDF6
positive regulation of macromolecule biosynthetic process (GO:0010557)	2.39	2	RAX, GDF6
nitrogen compound metabolic process (GO:0006807)	1.13	2	RAX, VSX2
regulation of multicellular organismal development (GO:2000026)	2.31	2	GDF6, GDF3
transcription, DNA-templated (GO:0006351)	1.91	2	RAX, VSX2
aromatic compound biosynthetic process (GO:0019438)	1.7	2	RAX, VSX2
regulation of protein phosphorylation (GO:0001932)	2.57	2	GDF6, GDF3
positive regulation of protein phosphorylation (GO:0001934)	2.95	2	GDF6, GDF3

NET-GE enrichment

Term	New enriched term	IC	P value	Genes
eye development (GO:0001654)	-	5.07	0.022	PRSS56, RAX, GDF3
camera-type eye development (GO:0043010)	-	5.36	0.05	PRSS56, RAX
sensory organ development (GO:0007423)	-	4.82	0.001	PRSS56, RAX, GDF3

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

Shared terms

GO	IC	Number of genes with the same GO	Genes
cell part (GO:0044464)	0.11	6	RAX, MFRP, VSX2, ALDH1A3, GDF3, PRSS56
intracellular part (GO:0044424)	0.28	5	VSX2, PRSS56, ALDH1A3, RAX, GDF3
membrane-bounded organelle (GO:0043227)	0.47	4	PRSS56, ALDH1A3, RAX, VSX2
organelle (GO:0043226)	0.4	4	PRSS56, ALDH1A3, RAX, VSX2
intracellular organelle (GO:0043229)	0.51	3	PRSS56, RAX, VSX2
intracellular membrane-bounded organelle (GO:0043231)	0.6	3	PRSS56, RAX, VSX2
extracellular region part (GO:0044421)	1.57	3	ALDH1A3, GDF6, GDF3
cytoplasm (GO:0005737)	1.01	2	ALDH1A3, GDF3
cytoplasmic part (GO:0044444)	0.82	2	PRSS56, ALDH1A3
nucleus (GO:0005634)	1.07	2	RAX, VSX2
extracellular region (GO:0005576)	2.18	2	GDF6, GDF3
extracellular space (GO:0005615)	2.63	2	GDF6, GDF3