Microphthalmia malady

Genetics Home Reference: Microphthalmia is an eye abnormality that arises before birth. In this condition, one or both eyeballs are abnormally small. In some affected individuals, the eyeball may appear to be completely missing; however, even in these cases some remaining eye tissue is generally present. Such severe microphthalmia should be distinguished from another condition called anophthalmia, in which no eyeball forms at all. However, the terms anophthalmia and severe microphthalmia are often used interchangeably. Microphthalmia may or may not result in significant vision loss.¹⁷

MalaCards: Microphthalmia, also known as microphthalmos, is related to microphthalmia with linear skin defects and anophthalmia/microphthalmia. An important gene associated with Microphthalmia is VSX2 (visual system homeobox 2), and among its related pathways are Transcription factors in neurogenesis and Selected targets of Oct-3/4. The compounds dopachrome and hmba have been mentioned in the context of this disorder. Affiliated tissues include whole blood, heart and kidney, and related mouse phenotypes are mortality/aging and endocrine/exocrine gland.

Wikipedia: Microphthalmia also referred to as microphthalmos, nanophthalmia or nanophthalmos, is a developmental...⁴⁴ more...

Aliases & Descriptions:

microphthalmia 6 7 17 8 32 microphthalmos 6 17 nanophthalmos 6 7

simple microphthalmos 6 nanophthalmia 6

Diseases related to microphthalmia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 284)

id	Related Disease	Score	Top Affiliating Genes
1	microphthalmia with linear skin defects	34.9	CLCN4, MLS, ARHGAP1, ARHGAP6, SRY, RPP30
2	anophthalmia/microphthalmia	33.1	VSX2, VAX1, RAX, PAX2, OTX2, DACH1
3	anophthalmia	32.9	VSX2, VAX1, BMP4, RAX, PAX6, PAX2
4	coloboma	32.7	LRP6, VSX2, VAX1, VAX2, BMP4, RAX
5	microphthalmia cataract	31.5	VSX2, CATM, GJA1, CRYBA4, SIX6
6	waardenburg's syndrome	30.7	KIT, PAX3, PAX6, MITF, ONECUT2, TYR
7	ocular albinism	30.4	CLCN4, MLANA, MLS, MITF, HCCS, TYR
8	albinism	30.2	KIT, RAB27A, CLCN4, PAX3, PAX6, MLANA
9	angiomyolipoma	29.6	KIT, PAX2, S100B, MLANA, MITF, ACTC1
10	waardenburg syndrome type 2	29.4	PAX3, MITF, TYR, TFE3, SOX10, WS2B
11	osteopetrosis	29.4	CLCN4, MITF, IKBKG, TNFSF11, CTSK, NFATC1
12	microcephaly	29.3	RAB3GAP1, RAB3GAP2, RAB18, PAX6, BCOR, MNX1
13	ectrodactyly	28.5	NR2E1, SNX3, PRL, PORCN, SIX3
14	cataract	28.3	VSX2, GCNT2, RAB3GAP1, RAX, RAB3GAP2, RAB18
15	aniridia	28.3	PAX3, PAX6, PAX2, FOXE3, OTX2, PITX2
16	congenital cataracts	28.0	GCNT2, BFSP2, PAX6, EYA1, GJA8, CRYAA
17	pycnodysostosis	27.9	MITF, CTSK, TFE3, TFEB, TFEC
18	giant cell tumor	27.8	S100B, MITF, TNFSF11, CTSK, ACTC1
19	hypospadias	27.7	BMP4, SALL1, HOXA13, HOXD13, PTER, SRY
20	renal cell carcinoma	27.7	KIT, GCNT2, BIRC7, PAX2, FOS, MITF
21	corpus callosum	27.5	RAB3GAP1, RAB3GAP2, RAB18, SALL1, MFRP, ERCC6
22	townes-brocks syndrome	27.4	SALL1, EYA1, CTNNB1
23	neurofibroma	27.3	KIT, S100B, MLANA, MITF, MAPK10, NF2
24	vitiligo	27.3	KIT, MPO, MLANA, MITF, MC1R, TYR
25	melanoma	27.1	KIT, GCNT2, BMP4, RAB27A, BIRC7, BEST1
26	melanoma metastasis	27.1	KIT, S100B, FOXO3, MITF, MIR182, MAPK1
27	glaucoma	26.8	VSX2, GCNT2, BMP4, BEST1, PAX6, BCOR
28	hernia	26.0	PAX3, PAX6, CDH19, CCDC102B, TMX3, SHH
29	retinitis	25.1	KIT, VSX2, BMP4, RAB27A, RAX, BEST1
30	retinoblastoma	24.2	KIT, VSX2, BMP4, PAX3, PAX6, UBE2I
31	sarcoma	23.7	KIT, BMP4, PAX3, PAX2, BCL6, UBE2I
32	hypoxia	23.3	KIT, BMP4, USF2, USF1, PAX2, BCL6
33	myeloid leukemia	23.0	SH3D19, KIT, USF2, USF1, BCL6, BCOR
34	cervicitis	22.9	KIT, BIRC7, S100B, MPO, FOS, MITF
35	leukemia	19.3	LRP6, SH3D19, KIT, BMP4, RAB3GAP1, USF2
36	carcinoma	19.0	PIAS3, LRP6, KIT, KIF11, GCNT2, BMP4
37	cataract-glaucoma	14.2	PAX6, GJA1, OTX2, PITX2, SOX2
38	carney complex	14.1	KIT, S100B, MLANA, MITF, TYR, TYRP1
39	perivascular epithelioid cell tumor	14.1	KIT, S100B, MLANA, MITF, ACTC1, TFE3
40	developmental disabilities	14.0	PAX6, PAX2, SALL1, GJA1, PITX2, TYR
41	juvenile xanthogranuloma	14.0	KIT, S100B, MLANA, TYR, PMEL
42	pigmentation disease	14.0	KIT, MITF, TYR
43	branchiootorenal syndrome	14.0	SALL1, EYA1, OTX2, DACH1, SIX6
44	intraocular melanoma	14.0	LEF1, S100B, MLANA, MITF, MC1R, TYR
45	amelanotic melanoma	14.0	S100B, TYR, TYRP1, DCT
46	blue rubber bleb nevus syndrome	14.0	S100B, MLANA, MITF, ACTC1
47	peters anomaly	14.0	PAX6, FOXE3, GJA8, PITX2, PITX3
48	kidney clear cell sarcoma	14.0	KIT, S100B, MITF, CREB1
49	iridogoniodysgenesis	14.0	FOXE3, PITX2, PITX3
50	holoprosencephaly	14.0	BMP4, MNX1, PTER, OTX2, SHH, SIX3

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to microphthalmia:

²²

MGI Mouse Phenotypes related to microphthalmia:

²⁵ (show all 28)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	mortality/aging	MP:0010768	INF	LRP6, , VSX2, VAX1, VAX2, BMP4
2	endocrine/exocrine gland phenotype	MP:0005379	10.0	VSX2, PAX3, PAX2, CITED1, MNX1, MITF
3	pigmentation phenotype	MP:0001186	9.9	KIT, VSX2, RAB27A, USF2, BEST1, PAX3
4	taste/olfaction phenotype	MP:0005394	9.9	PAX6, MAPK1, OTX2, CTNNB1, SOX2, SIX3
5	normal phenotype	MP:0002873	9.7	LRP6, BMP4, RAX, USF2, USF1, PAX3
6	hearing/vestibular/ear phenotype	MP:0005377	9.6	LRP6, KIT, BMP4, PAX3, PAX6, PAX2
7	respiratory system phenotype	MP:0005388	9.5	LRP6, PAX3, PAX6, BCL6, MNX1, ALX1
8	limbs/digits/tail phenotype	MP:0005371	9.1	LRP6, KIT, BMP4, USF2, PAX3, LEF1
9	no phenotypic analysis	MP:0003012	9.1	LRP6, VSX2, BMP4, RAB18, PAX3, UBE2I
10	craniofacial phenotype	MP:0005382	8.8	LRP6, KIT, VAX1, VAX2, BMP4, RAX
11	skeleton phenotype	MP:0005390	8.5	LRP6, KIT, VAX1, BMP4, PAX3, LEF1
12	digestive/alimentary phenotype	MP:0005381	8.2	LRP6, KIT, VAX1, VAX2, BMP4, RAX
13	liver/biliary system phenotype	MP:0005370	8.2	LRP6, KIT, BMP4, BCL6, ARHGAP1, MARK3
14	vision/eye phenotype	MP:0005391	8.0	LRP6, KIT, VSX2, VAX1, VAX2, BMP4
15	tumorigenesis	MP:0002006	7.4	KIT, PAX3, PAX6, FOS, FOXO3, IRF4
16	muscle phenotype	MP:0005369	7.4	KIT, BMP4, PAX3, PAX6, BCL6, MPO
17	renal/urinary system phenotype	MP:0005367	7.2	LRP6, KIT, GCNT2, BMP4, CLCN4, PAX3
18	behavior/neurological phenotype	MP:0005386	6.6	LRP6, KIT, GCNT2, VAX2, BMP4, RAX
19	cardiovascular system phenotype	MP:0005385	6.6	KIT, BMP4, PAX3, PAX6, PAX2, BCL6
20	integument phenotype	MP:0010771	6.3	LRP6, KIT, GCNT2, RAB27A, USF2, PAX3
21	nervous system phenotype	MP:0003631	6.3	LRP6, KIT, VSX2, VAX1, VAX2, BMP4
22	immune system phenotype	MP:0005387	5.3	KIT, GCNT2, RAB27A, PAX3, PAX6, BCL6
23	embryogenesis phenotype	MP:0005380	INF	LRP6, KIT, , BMP4, RAX, PAX3
24	growth/size phenotype	MP:0005378	INF	LRP6, KIT, , VAX2, BMP4, USF2
25	hematopoietic system phenotype	MP:0005397	INF	KIT, GCNT2, BMP4, RAB27A, PAX3, FOXO3
26	cellular phenotype	MP:0005384	INF	LRP6, KIT, VAX1, VAX2, BMP4, RAB27A
27	homeostasis/metabolism phenotype	MP:0005376	INF	LRP6, KIT, GCNT2, BMP4, RAB27A, PAX3
28	reproductive system phenotype	MP:0005389	INF	LRP6, , VSX2, USF2, PAX3, PAX6

Articles related to microphthalmia:

(show top 50)    (show all 180)

id	Title	Authors	Year	Affiliating Genes
1	VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans. (22095910)	Slavotinek A.M.... Schorderet D.F.	2012	VAX2, VAX1
2	OTX2 microphthalmia syndrome: four novel mutations an d delineation of a phenotype. (20486942)	Schilter K.F.... Semina E.V.	2011	OTX2
3	Examination of SOX2 in variable ocular conditions ide ntifies a recurrent deletion in microphthalmia and lack of mutations in other p henotypes. (20454695)	Reis L.M.... Semina E.V.	2010	SOX2
4	C-TAK1 interacts with microphthalmia-associated trans cription factor, Mitf, but not the related family member Tfe3. (20214879)	Schwarz T.... Mansky K.C.	2010	MITF, MARK3
5	A male with unilateral microphthalmia reveals a role for TMX3 in eye development. (20485507)	Chao R.... Slavotinek A.	2010	TMX3
6	Heterogeneous SWI/SNF chromatin remodeling complexes promote expression of microphthalmia-associated transcription factor target gen es in melanoma. (19784067)	Keenen B.... de la Serna I.L.	2010	SMARCA4, MITF, SMARCA2
7	The discovery of the microphthalmia locus and its gen e, Mitf. (20807369)	Arnheiter H.	2010	MITF
8	Effect of the mutant microphthalmia-associated transc ription factor found in Tietz syndrome on the in vitro development of mast cell s. (20485200)	Shigemura T.... Koike K.	2010	MITF
9	Rapid frozen section immunostaining of melanocytes by microphthalmia-associated transcription factor. (20514666)	Glass L.F.... Cherpelis B.S.	2010	MITF
10	Microphthalmia, parkinsonism, and enhanced nociceptio n in Pitx3 ( 416insG ) mice. (20033184)	Rosemann M.... Graw J.	2010	PITX3
11	A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2. (19004499)	Abouzeid H.... Schorderet D.F.	2009	PAX6
12	Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma. (19158959)	London N.J.... Traboulsi E.I.	2009	RAX
13	A novel heterozygous SOX2 mutation causing anophthalm ia/microphthalmia with genital anomalies. (19254784)	Pedace L.... Grammatico P.	2009	SOX2
14	Novel SOX2 mutations and genotype-phenotype correlati on in anophthalmia and microphthalmia. (19921648)	Schneider A.... Semina E.V.	2009	SOX2
15	Low expression of microphthalmia-associated transcrip tion factor, a potential molecular target for interferon-alpha susceptibility, is associated with metastasis in renal cell carcinoma. (19496784)	Shimazui T.... Akaza H.	2009	MITF
16	Identification of microphthalmia-associated transcrip tion factor isoforms in dogs. (18701327)	Tsuchida S.... Tagawa M.	2009	MITF
17	Brn-2 represses microphthalmia-associated transcription factor expression and marks a distinct subpopulation of microphthalmia-associated transcription factor-negative melanoma cells. (18829533)	Goodall J.... Goding C.R.	2008	CTNNB1, MITF, POU3F2
18	Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia. (18385794)	Zhou J.... Young T.L.	2008	SOX2, VSX2
19	Microphthalmia-associated transcription factor is a critical transcriptional regulator of melanoma inhibitor of apoptosis in melanomas. (18451137)	Dynek J.N.... Vucic D.	2008	MITF, BIRC7
20	Induction of microphthalmia transcription factor (Mitf) by forskolin and stimulation of melanin release in UISO-Mel-6 cells. (18028952)	Lekmine F.... Salti G.I.	2008	MITF, TYRP1
21	Microphthalmia-associated transcription factor gene amplification in metastatic melanoma is a prognostic marker for patient survival, but not a predictive marker for chemosensitivity and chemotherapy response. (17975146)	Ugurel S.... Becker J.C.	2007	MITF
22	Anophthalmia and microphthalmia. (18039390)	Verma A.S.... FitzPatrick D.R.	2007	OTX2, SOX2, VSX2
23	Mast cell tryptase and microphthalmia transcription factor effectively discriminate cutaneous mast cell disease from myeloid leukemia cutis. (17381798)	Sundram U.N.... Natkunam Y.	2007	KIT, MPO, MITF
24	Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. (17406642)	Henderson R.A.... van Heyningen V.	2007	PAX6, OTX2
25	New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia. (17296897)	Beby F.... Morle L.	2007	CRYAA
26	CRYBA4, a novel human cataract gene, is also involved in microphthalmia. (16960806)	Billingsley G.... Heon E.	2006	CRYBA4
27	Microphthalmia-associated transcription factor interactions with 14-3-3 modulate differentiation of committed myeloid precursors. (16822840)	Bronisz A.... Ostrowski M.C.	2006	MITF
28	The cleavage of microphthalmia-associated transcription factor, MITF, by caspases plays an essential role in melanocyte and melanoma cell apoptosis. (16140982)	Larribere L.... Bertolotto C.	2005	MITF
29	The microphthalmia transcription factor (Mitf) controls expression of the ocular albinism type 1 gene: link between melanin synthesis and melanosome biogenesis. (15254223)	Vetrini F.... Marigo V.	2004	MITF
30	A dominant negative mutant of microphthalmia transcription factor (MITF) lacking two transactivation domains suppresses transcription mediated by wild type MITF and a hyperactive MITF derivative. (14717844)	Vachtenheim J.... Drdova B.	2004	TYR, MITF, TYRP1
31	Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR. (15004558)	Ng D.... Biesecker L.G.	2004	BCOR
32	A tissue-restricted cAMP transcriptional response: SOX10 modulates alpha-melanocyte-stimulating hormone-triggered expression of microphthalmia-associated transcription factor in melanocytes. (12944398)	Huber W.E.... Fisher D.E.	2003	POMC, MITF, SOX10
33	Genetic heterogeneity of syndromic X-linked recessive microphthalmia-anophthalmia: is Lenz microphthalmia a single disorder? (12116202)	Ng D.... Biesecker L.G.	2002	BCOR
34	Genetic mapping of a novel X-linked recessive colobomatous microphthalmia. (11391653)	Lehman D.M.... Leach R.J.	2001	MOPCB1
35	Microphthalmia transcription factor: a sensitive and specific marker for malignant melanoma in cytologic specimens. (11668469)	Dorvault C.C.... Chhieng D.C.	2001	S100B, MITF
36	Microphthalmia transcription factor in the immunohistochemical diagnosis of metastatic melanoma: comparison with four other melanoma markers. (11176069)	Miettinen M.... Sarlomo-Rikala M.	2001	S100B, TYR, MITF
37	Specific Pax-6/microphthalmia transcription factor interactions involve their DNA-binding domains and inhibit transcriptional properties of both proteins. (11350962)	Planque N.... Saule S.	2001	PAX6, MITF
38	Transcriptional repression of the microphthalmia gene in melanoma cells correlates with the unresponsiveness of target genes to ectopic microphthalmia-associated transcription factor. (11886515)	Vachtenheim J.... Ghanem G.	2001	TYR, TYRP1
39	Immunohistochemical and reverse transcription-polymerase chain reaction expression analysis of tyrosinase and microphthalmia-associated transcription factor in angiomyolipomas. (11277411)	Jungbluth A.A.... Busam K.J.	2001	TYR
40	The transcription factor onecut-2 controls the microphthalmia-associated transcription factor gene. (11478782)	Jacquemin P.... Rousseau G.G.	2001	MITF, ONECUT2, PHTF2
41	Inhibition of melanogenesis in response to oxidative stress: transient downregulation of melanocyte differentiation markers and possible involvement of microphthalmia transcription factor. (11493672)	JimAcnez-Cervantes C.... GarcA-a-BorrA^n J.C.	2001	TYR, MITF, TYRP1
42	Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. (10938265)	Verastegui C.... Ballotti R.	2000	SOX10
43	Structural organization of the human microphthalmia-associated transcription factor gene containing four alternative promoters. (10760582)	Udono T.... Shibahara S.	2000	MITF
44	Expression of genes for microphthalmia isoforms, Pax3 and MSG1, in human melanomas. (10644012)	Vachtenheim J.... Novotna H.	1999	PAX3, MITF, CITED1
45	Suppression of microphthalmia transcriptional activity by its association with protein kinase C-interacting protein 1 in mast cells. (10567402)	Razin E.... Rivera J.	1999	PRKCI
46	Molecular cloning of cDNA encoding a novel microphthalmia-associated transcription factor isoform with a distinct amino-terminus. (10578055)	Fuse N.... Shibahara S.	1999	MITF, CREB3
47	alpha-Melanocyte-stimulating hormone signaling regulates expression of microphthalmia, a gene deficient in Waardenburg syndrome. (9830058)	Price E.R.... Fisher D.E.	1998	TYR, POMC
48	Growth regulatory proteins that repress differentiation markers in melanocytes also downregulate the transcription factor microphthalmia. (8752668)	Halaban R.... Zhang Y.	1996	TYR, TYRP1, DCT
49	Melanocyte-specific expression of the human tyrosinase promoter: activation by the microphthalmia gene product and role of the initiator. (7969139)	Bentley N.J.... Goding C.R.	1994	TYR
50	Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization. (8116674)	Lindsay E.A.... Zoghbi H.Y.	1994	SRY

Genes related to microphthalmia according to GeneCards:

(show top 50)    (show all 153)

id	Symbol	Description	Score	GeneCards Section Context
1	VSX2	visual system homeobox 2	11.1	Publications, Summaries
2	HCCS	holocytochrome c synthase	11.1	Publications, Summaries, Orthologs
3	OTX2	orthodenticle homeobox 2	11.1	Summaries, Publications
4	SOX2	SRY (sex determining region Y)-box 2	11.1	Publications, Summaries
5	RAX	retina and anterior neural fold homeobox	11.1	Summaries, Publications
6	SIX6	SIX homeobox 6	11.1	Publications, Summaries
7	STRA6	stimulated by retinoic acid gene 6 homolog (mouse)	11.1	Summaries, Publications
8	MFRP	membrane frizzled-related protein	11.1	Publications, Summaries
9	CATM	cataract, congenital, with microphthalmia	11.0	Aliases & Descriptions
10	MCOP	microphthalmia, autosomal recessive	11.0	Aliases & Descriptions
11	TFE3	transcription factor binding to IGHM enhancer 3	11.0	Summaries, Publications
12	SMOC1	SPARC related modular calcium binding 1	11.0	Summaries
13	MOPCB1	Microphthalmia, colobomatous, 1	11.0	Aliases & Descriptions, Publications
14	MAA	microphthalmia or anophthalmia and associated anomalies	11.0	Aliases & Descriptions
15	MOPCB2	Microphthalmia, colobomatous, 2	11.0	Publications, Aliases & Descriptions
16	MITF	microphthalmia-associated transcription factor	11.0	Orthologs, Functions, Aliases & Descriptions, Databases (show all 6 sections) Transcripts, Publications
17	MIR182	microRNA 182	11.0	Summaries, Publications
18	CPBHM	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	11.0	Aliases & Descriptions
19	MCO	microphthalmia (Los Angeles type)	11.0	Aliases & Descriptions
20	GDF6	growth differentiation factor 6	11.0	Publications
21	GDF3	growth differentiation factor 3	11.0
22	PITX3	paired-like homeodomain 3	11.0	Publications
23	BCOR	BCL6 corepressor	11.0	Publications
24	PAX2	paired box 2	11.0	Publications
25	ANOP1	anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities)	11.0
26	RA6	Rheumatoid arthritis QTL 06	11.0
27	MIR96	microRNA 96	11.0	Summaries
28	CRYBA4	crystallin, beta A4	11.0	Publications
29	VAX1	ventral anterior homeobox 1	11.0	Publications
30	SIX3	SIX homeobox 3	11.0	Publications
31	COPS8	COP9 constitutive photomorphogenic homolog subunit 8 (Arabidopsis)	11.0
32	C21orf33	chromosome 21 open reading frame 33	11.0
33	BMP4	bone morphogenetic protein 4	11.0	Publications
34	COPS4	COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis)	11.0
35	PITX2	paired-like homeodomain 2	11.0
36	GJA1	gap junction protein, alpha 1, 43kDa	11.0
37	ARHGAP6	Rho GTPase activating protein 6	11.0	Publications
38	DACH1	dachshund homolog 1 (Drosophila)	11.0
39	MLS	microphthalamia with linear skin defects	11.0	Publications
40	TYRP1	tyrosinase-related protein 1	11.0	Publications
41	POU3F2	POU class 3 homeobox 2	11.0	Publications
42	RPP30	ribonuclease P/MRP 30kDa subunit	11.0	Publications
43	OSCAR	osteoclast associated, immunoglobulin-like receptor	11.0
44	TFEB	transcription factor EB	11.0	Publications
45	MLANA	melan-A	11.0	Publications
46	TYR	tyrosinase (oculocutaneous albinism IA)	11.0	Publications
47	DCT	dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2)	11.0	Publications
48	SALL1	sal-like 1 (Drosophila)	11.0	Publications
49	PAX6	paired box 6	11.0	Publications
50	SHH	sonic hedgehog	11.0	Publications

Pathways related to microphthalmia according to GeneDecks:

(show all 41)

id	Pathway	Score	Top Affiliating Genes
1	Transcription factors in neurogenesis10	10.9	SIX3, POU3F2, SOX10, CREB1, OTX2, PAX2
2	Selected targets of Oct-3/410	10.9	SOX2, OTX2, TNFSF11, GJA1, PAX6, BMP4
3	Wnt / Hedgehog / Notch3	10.2	WNT3A, SOX2, SHH, CTNNB1, OTX2, MARK3
4	Development_Leptin signaling via JAK/STAT and MAPK cascades41	9.8	POMC, HIF1A, MAPK1, FOS, PIAS3
5	Development Leptin signaling via JAK/STAT and MAPK cascades10	9.8	POMC, HIF1A, MAPK1, FOS, PIAS3
6	APRIL Pathway36	9.6	NFATC1, IKBKG, MAPK10, MAPK14, FOS
7	BMP Pathway36	9.6	EP300, CREB3, CREB1, MAPK10, MAPK14, FOS
8	Wnt Signaling Pathway37	9.6	WNT3A, PRKCI, NFATC1, CTNNB1, MAPK10, LEF1
9	BAFF in B-Cell Signaling36	9.6	NFATC1, IKBKG, MAPK10, MAPK14, FOS
10	Transcription_Ligand-dependent activation of the ESR1/SP pathway41	9.6	EP300, HIF1A, SMARCA4, SMARCA2, FOS
11	Prostate cancer20	9.6	EP300, CREB3, CREB1, CTNNB1, IKBKG, MAPK1
12	Transcription Ligand-dependent activation of the ESR1/SP pathway10	9.6	EP300, HIF1A, SMARCA4, SMARCA2, FOS
13	NGF Pathway36	9.5	CREB3, CREB1, IKBKG, MAPK1, MAPK10, FOXO3
14	CMV and MAPK Pathways36	9.5	CREB3, CREB1, IKBKG, MAPK1, MAPK14
15	Melanogenesis20	9.5	TYR, TYRP1, DCT, POMC, WNT3A, EP300
16	Wnt signaling pathway20	9.5	EP300, WNT3A, PORCN, NFATC1, CTNNB1, MAPK10
17	NF-KappaB Activation by EBV36	9.5	PRKCI, IKBKG, MAPK10, MAPK14, FOS
18	LPS Stimulated MAPK Signaling36	9.4	PRKCI, CREB3, CREB1, IKBKG, MAPK1, MAPK14
19	RANK Signaling in Osteoclasts36	9.3	NFATC1, TNFSF11, IKBKG, MAPK1, MAPK10, MAPK14
20	EGF Pathway36	9.3	PRKCI, FOS, MAPK10, MAPK1, IKBKG, CTNNB1
21	UVC-Induced MAPK Signaling36	9.3	PRKCI, MAPK1, MAPK10, MAPK14, FOS
22	Osteoclast differentiation20	9.2	OSCAR, ACP5, NFATC1, CREB1, CTSK, SPI1
23	Development_VEGF signaling via VEGFR2 - generic cascades41	9.2	PRKCI, NFATC1, CTNNB1, IKBKG, MAPK1, MAPK14
24	IL-2 Pathway36	9.2	PRKCI, NFATC1, IKBKG, MAPK1, MAPK10, MAPK14
25	SUMO Pathway36	9.1	CREB3, CREB1, IKBKG, MAPK1, MAPK10, MAPK14
26	GPCR Pathway36	9.1	GDF6, PRKCI, NFATC1, CREB3, CREB1, IKBKG
27	CRHR Pathway36	9.1	EP300, POMC, PRKCI, CREB3, CREB1, MAPK1
28	TGF-beta Signaling Pathways37	9.1	EP300, SKI, CREB1, MAPK1, MAPK10, MAPK14
29	TREM1 Pathway36	9.1	NFATC1, IKBKG, MAPK1, MAPK10, MAPK14, FOS
30	Androgen Signaling36	9.0	EP300, PRKCI, SRY, MAPK1, MAPK10, MAPK14
31	Prolactin Signaling36	9.0	EP300, PRKCI, MAPK1, MAPK10, MAPK14
32	WNT Signaling36	9.0	WNT3A, PRKCI, NFATC1, CREB3, CREB1, SMARCA4
33	PI3K Signaling in B-Lymphocyte36	9.0	PRKCI, NFATC1, CREB3, CREB1, IKBKG, MAPK1
34	Pathways in cancer20	8.9	SPI1, CTNNB1, SHH, HIF1A, WNT3A, EP300
35	Melanocyte Development and Pigmentation36	8.9	KIT, EP300, POMC, SOX10, CREB3, CREB1
36	Estrogen Pathway36	8.9	GDF6, EP300, CREB3, CREB1, IKBKG, MAPK1
37	UVB-Induced MAPK Signaling36	8.9	PRKCI, MAPK1, MAPK10, MAPK14, FOS
38	14-3-3 Induced Apoptosis36	8.7	IKBKG, MAPK1, MAPK10, MAPK14, FOXO3, FOS
39	Molecular Mechanisms of Cancer36	8.7	GDF6, EP300, SOX9, SOX2, SOX10, HIF1A
40	Glucocorticoid Receptor Signaling36	8.6	SMARCA4, CREB1, CREB3, EP300, SMARCA2, MAPK1
41	ILK Signaling36	8.5	HIF1A, CREB3, CREB1, CTNNB1, MAPK1, MAPK10

Compounds related to microphthalmia according to GeneDecks:

(show top 50)    (show all 66)

id	Compound	Score	Top Affiliating Genes
1	dopachrome32	10.9	MITF, PMEL, SOX10, DCT, TYRP1, TYR
2	hmba32	10.9	DCT, TYRP1, TYR, GJA1, MITF
3	kojic acid32	10.8	TYRP1, TYR, MITF
4	dhica32	10.8	DCT, TYRP1, TYR
5	arbutin32	10.8	DCT, TYRP1, TYR
6	eumelanin32	10.7	POMC, DCT, TYRP1, TYR, MC1R
7	threonine32	10.7	TYRP1, NF2, KARS, PAX2
8	silver32	10.7	PMEL, DCT, TYRP1, SRY, MC1R, MITF
9	leucine32	10.5	CTSK, CREB1, CREB3, SKI, TYRP1, TFE3
10	pge232	10.3	HIF1A, CREB1, TNFSF11, GJA1, MAPK10, BMP4
11	rapamycin32 42	11.2	ACP5, NF2, MAPK10, FOXO3, BMP4, KIT
12	phaeomelanin32	10.1	POMC, TYR, MC1R
13	oligonucleotide32	9.9	SMARCA4, CREB1, PITX2, HIF1A, TYRP1, DCT
14	pkc 41232	9.8	DYT10, MAPK1, FOS, KIT
15	levodopa32 9 9	11.8	PRL, DCT, TYRP1, TYR, CREB1, MAPK10
16	bromodeoxyuridine32	9.7	EP300, ACP5, CTNNB1, GJA1, S100B, BCL6
17	kn 9332	9.6	DYT10, MAPK1, MAPK10, FOS
18	ly29400232	9.6	EP300, TYR, TNFSF11, GJA1, MAPK1, MAPK14
19	paraffin32	9.6	NF2, ACP5, ACTC1, HIF1A, TYR, POMC
20	cyclic amp32 18	10.5	CREB1, CREB3, PITX2, TYRP1, SOX9, EP300
21	sb 20358032 42	10.4	TYR, HIF1A, NFATC1, CREB1, CTNNB1, TNFSF11
22	forskolin32 42 9 9	12.4	DYT10, CREB1, TYRP1, DCT, POMC, TNFSF11
23	pyridinylimidazole32	9.1	MAPK1, MAPK10, MAPK14
24	1,4-diamino-2,3-dicyano-1,4-bis(2-aminophenylthio)butadiene32	9.1	MAPK1, MAPK10, MAPK14
25	chelerythrine32	9.1	CREB1, DYT10, GJA1, MAPK1, MAPK10, MAPK14
26	bisindolylmaleimide32	9.0	CREB1, DYT10, MAPK1, MAPK10, MAPK14, FOS
27	steroid32	9.0	SMARCA4, CREB1, ACTC1, TYRP1, PRL, SOX9
28	cysteine32	9.0	PITX2, NF2, CRYAA, CREB1, ACP5, HIF1A
29	imatinib32 34 9 9	12.0	ACTC1, CTNNB1, MAPK1, MAPK10, MAPK14, FOXO3
30	12-o-tetradecanoylphorbol 13-acetate32	9.0	DYT10, CREB1, TYRP1, PVRL1, DCT, GJA1
31	doxorubicin32 34 9 9	11.9	EP300, DNAH8, TYR, HIF1A, CTNNB1, TNFSF11
32	anisomycin32 42 9 9	11.9	CREB1, DYT10, GJA1, MAPK1, MAPK10, MAPK14
33	geldanamycin32 9 9	10.7	HIF1A, CTNNB1, IKBKG, MAPK1, MAPK10, MAPK14
34	ag 147832	8.7	CREB1, CTNNB1, DYT10, MAPK1, MAPK10, MAPK14
35	estrogen32	8.7	POMC, PRL, HIF1A, ACTC1, SMARCA4, SMARCA2
36	gf 109203x32 42	9.6	PRKCI, CREB1, CTNNB1, DYT10, MAPK1, MAPK10
37	alanine32	8.5	GJA1, SRY, CTNNB1, HIF1A, TYR, DNAH8
38	adenylate32	8.4	CREB1, TYR, TYRP1, DNAH8, DCT, POLR3K
39	arginine32	8.4	CRYAA, PITX2, HIF1A, TYR, DNAH8, PRL
40	pd 98,05932	8.3	DYT10, CTNNB1, CREB1, HIF1A, EP300, TNFSF11
41	cytochalasin d32 42	9.2	SOX9, NF2, CTNNB1, DYT10, MAPK1, MAPK10
42	diphenyleneiodonium32	8.2	HIF1A, DYT10, MAPK1, MAPK10, MAPK14, MPO
43	cycloheximide32	8.2	DYT10, CTNNB1, CREB1, HIF1A, TYR, SOX9
44	testosterone32 9 18 9	11.2	ACTC1, HIF1A, TYR, DNAH8, PRL, SOX9
45	wortmannin32 42	9.0	CTNNB1, CREB1, HIF1A, TYRP1, EP300, DYT10
46	h2o232	7.5	SUMO1, CTNNB1, CREB1, ACP5, HIF1A, TYR
47	vegf32	7.4	DYT10, CTNNB1, CREB1, NFATC1, ACTC1, HIF1A
48	tyrosine32	7.2	NF2, CRYAA, CREB1, SMARCA4, CTNNB1, CTSK
49	serine32	6.9	CRYAA, CREB1, CTNNB1, CTSK, SPI1, SRY
50	retinoic acid32 42 18	8.4	CTSK, CTNNB1, CREB1, C21orf33, ACTC1, HIF1A

Cellular components related to microphthalmia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein-DNA complex	GO:032993	9.9	PAX2, LEF1, CTNNB1, EP300
2	transcription factor complex	GO:005667	9.3	PITX2, SKI, HIF1A, TFEB, SOX2, POU3F2
3	nucleus	GO:005634	4.8	EP300, COPS8, RPP30, CRYAA, CREB3, CREB1
4	cytoplasm	GO:005737	INF	COPS4, COPS6, COPS8, CRYAA, CREB3, SNX3

Biological processes related to microphthalmia according to GeneDecks:

(show top 50)    (show all 53)

id	Name	GO ID	Score	Top Affiliating Genes
1	eye development	GO:001654	10.9	GDF3, SOX2, SMOC1, PAX6, RAB18
2	pituitary gland development	GO:021983	10.9	SOX2, CREB1, SALL1, PAX6, BMP4
3	lymphoid progenitor cell differentiation	GO:002320	10.9	SHH, SPI1, BMP4, KIT
4	camera-type eye development	GO:043010	10.9	SHH, SKI, PITX2, CRYBA4, MAB21L2, PAX2
5	lens induction in camera-type eye	GO:060235	10.9	SIX3, SOX2, BMP4
6	melanin biosynthetic process	GO:042438	10.8	CITED1, MC1R, TYRP1, PMEL
7	neuron fate commitment	GO:048663	10.8	SOX2, SHH, PAX6, BMP4
8	SMAD protein signal transduction	GO:060395	10.8	SKI, FOS, CITED1, BMP4
9	male genitalia development	GO:030539	10.8	SOX2, SHH, HOXD13, HOXA13
10	melanocyte differentiation	GO:030318	10.7	SOX10, TYRP1, MITF, CITED1, RAB27A, KIT
11	positive regulation of epithelial cell differentiation	GO:030858	10.7	SOX9, SOX2, PAX6
12	organ morphogenesis	GO:009887	10.7	EP300, SIX6, HCCS, PITX3, ONECUT2, TNFSF11
13	branching involved in ureteric bud morphogenesis	GO:001658	10.7	SOX9, SHH, EYA1, SALL1, CITED1, PAX2
14	lens development in camera-type eye	GO:002088	10.6	NHS, PITX3, CRYGS, GJA8, PAX6
15	negative regulation of epithelial cell proliferation	GO:050680	10.5	SOX9, SOX2, PAX6, BMP4, LRP6
16	visual perception	GO:007601	10.5	TRPM1, CRYAA, CRYBA4, TYR, SIX3, SIX6
17	cell fate specification	GO:001708	10.5	SOX9, SHH, CTNNB1, OTX2
18	lens morphogenesis in camera-type eye	GO:002089	10.5	PVRL1, SKI, PITX3, CTNNB1
19	palate development	GO:060021	10.5	WNT3A, SHH, SKI, SUMO1, ALX1, LEF1
20	mesenchymal to epithelial transition involved in metanephros morphogenesis	GO:003337	10.5	BMP4, PAX2, SALL1
21	retina development in camera-type eye	GO:060041	10.5	SOX9, PVRL1, SKI, BMP4, VAX2
22	anterior/posterior axis specification	GO:009948	10.5	PGAP1, SKI, CTNNB1, BMP4
23	forebrain development	GO:030900	10.5	SOX2, SHH, SMARCA4, CTNNB1, OTX2, VAX2
24	positive regulation of DNA binding	GO:043388	10.4	EP300, SKI, PITX2, SMARCA4, IRF4
25	embryonic digit morphogenesis	GO:042733	10.4	SHH, CTNNB1, HOXD13, SALL1, BMP4, LRP6
26	positive regulation of neuroblast proliferation	GO:002052	10.4	SOX2, SOX10, DCT, HIF1A, SHH, CTNNB1
27	bone resorption	GO:045453	10.4	ACP5, CTNNB1, CTSK, TNFSF11
28	histone dephosphorylation	GO:016576	10.3	EYA1, EYA2, EYA3
29	embryonic hindlimb morphogenesis	GO:035116	10.3	SHH, PITX2, SMARCA4, CTNNB1, BMP4, LRP6
30	osteoblast differentiation	GO:001649	10.2	WNT3A, SOX2, FIGNL1, LEF1, BMP4
31	heart looping	GO:001947	10.1	WNT3A, HIF1A, SHH, GJA1, LRP6
32	positive regulation of sequence-specific DNA binding transcription factor activity	GO:051091	10.0	EP300, WNT3A, SMARCA4, TNFSF11, UBE2I, KIT
33	protein sumoylation	GO:016925	10.0	PIAS3, UBE2I, EYA1, SUMO1
34	negative regulation of transcription from RNA polymerase II promoter	GO:000122	9.9	DMBX1, SPI1, SMARCA2, SMARCA4, PITX2, SKI
35	negative regulation of transcription, DNA-dependent	GO:045892	9.7	SUMO1, SPI1, CTNNB1, SMARCA2, SMARCA4, SOX9
36	positive regulation of transcription, DNA-dependent	GO:045893	9.3	GDF6, FOXO3, FOS, SALL1, CITED1, LEF1
37	stress-activated MAPK cascade	GO:051403	9.2	CREB1, IKBKG, MAPK1, MAPK10, MAPK14, FOS
38	MyD88-independent toll-like receptor signaling pathway	GO:002756	9.2	CREB1, IKBKG, MAPK1, MAPK10, MAPK14, FOS
39	TRIF-dependent toll-like receptor signaling pathway	GO:035666	9.2	CREB1, IKBKG, MAPK1, MAPK10, MAPK14, FOS
40	toll-like receptor 1 signaling pathway	GO:034130	9.2	CREB1, IKBKG, MAPK1, MAPK10, MAPK14, FOS
41	regulation of sequence-specific DNA binding transcription factor activity	GO:051090	9.2	MAPK1, MAPK10, MAPK14, FOS
42	toll-like receptor 3 signaling pathway	GO:034138	9.2	CREB1, IKBKG, MAPK1, MAPK10, MAPK14, FOS
43	toll-like receptor 2 signaling pathway	GO:034134	9.1	CREB1, FOS, MAPK14, MAPK10, MAPK1, IKBKG
44	toll-like receptor signaling pathway	GO:002224	9.1	CREB1, IKBKG, MAPK1, MAPK10, MAPK14, FOS
45	MyD88-dependent toll-like receptor signaling pathway	GO:002755	9.0	CREB1, IKBKG, MAPK1, MAPK10, MAPK14, FOS
46	Toll signaling pathway	GO:008063	8.9	CREB1, IKBKG, MAPK1, MAPK10, MAPK14, FOS
47	toll-like receptor 4 signaling pathway	GO:034142	8.6	CREB1, IKBKG, MAPK1, MAPK10, MAPK14, FOS
48	transcription, DNA-dependent	GO:006351	8.0	SMARCA4, CTNNB1, ONECUT2, DMBX1, HMX1, HOXA13
49	positive regulation of transcription from RNA polymerase II promoter	GO:045944	7.8	EP300, WNT3A, SIX3, POMC, SOX9, SOX2
50	brain development	GO:007420	INF	SIX3, , DMBX1, ALX1, CITED1, RAB18

Molecular functions related to microphthalmia according to GeneDecks:

(show all 12)

id	Name	GO ID	Score	Top Affiliating Genes
1	chromatin DNA binding	GO:031490	10.3	EP300, PITX2, BCL6, VAX2, VAX1
2	RNA polymerase II distal enhancer sequence-specific DNA binding	GO:000980	10.3	SOX10, NFATC1, CREB1, SPI1
3	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity	GO:003705	10.1	SIX3, SOX9, SOX10, HIF1A, NFATC1, CREB1
4	structural constituent of eye lens	GO:005212	10.1	CRYGS, CRYBA4, CRYAA, BFSP2
5	protein homodimerization activity	GO:042803	10.0	PVRL1, TYRP1, TYR, PITX2, CREB3, DMBX1
6	sequence-specific DNA binding	GO:043565	9.9	NR2E1, ONECUT2, OTX2, DMBX1, HMX1, CREB3
7	protein heterodimerization activity	GO:046982	9.8	PVRL1, TFEB, TYRP1, TYR, HIF1A, OTX2
8	transcription regulatory region DNA binding	GO:044212	9.8	SOX2, TFEB, TFE3, HIF1A, NFATC1, SMARCA2
9	transcription factor binding	GO:008134	9.4	EP300, HIF1A, PITX2, CTNNB1, SRY, SUMO1
10	sequence-specific DNA binding transcription factor activity	GO:003700	9.2	EP300, PITX2, NFATC1, CREB3, CREB1, NR2E1
11	chromatin binding	GO:003682	9.1	CREB3, SKI, SOX10, SOX2, SOX9, EP300
12	protein binding	GO:005515	5.1	SNX3, SMARCA2, SMARCA4, CREB1, CREB3, CRYAA