Keratoconus malady

NIH Rare Diseases: Keratoconus is the degeneration of the structure of the cornea, which is the clear tissue covering the front of the eye. In this condition, the shape of the cornea slowly changes from the normal round shape to a cone shape. Most people who develop keratoconus start out nearsighted, which tends to become worse over time. The cause is unknown, but the tendency to develop keratoconus is probably present from birth. Keratoconus is thought to involve a defect in collagen, the tissue that makes up most of the cornea. Some researchers believe that allergy and eye rubbing may play a role.³⁰

MalaCards: Keratoconus, also known as noninflammatory corneal thining, is related to leber congenital amaurosis and myxoma. An important gene associated with Keratoconus is VSX1 (visual system homeobox 1), and among its related pathways are Inhibition of Matrix Metalloproteinases and Activation of Matrix Metalloproteinases. The compounds tgf beta1 and hyaluronic acid have been mentioned in the context of this disorder. Affiliated tissues include t cells and b cells, and related mouse phenotypes are endocrine/exocrine gland and respiratory system.

Wikipedia: Keratoconus (from Greek: kerato- horn, cornea; and konos cone) is a degenerative disorder of the eye in...⁴⁴ more...

OMIM: 148300

Aliases & Descriptions:

keratoconus 6 7 30 8 33 32 43 noninflammatory corneal thining 30

kc 30

Disease types for keratoconus family:

keratoconus 1	keratoconus 2
keratoconus 3	keratoconus 4

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

(show top 50)    (show all 463)

id	Related Disease	Score	Top Affiliating Genes
1	leber congenital amaurosis	31.2	LRAT, SERPINF1, GUCY2D, IMPDH1, AIPL1, TULP1
2	myxoma	27.3	VIM, S100A1, MMP1, MMP2, MMP3, MMP9
3	bullous keratopathy	26.8	BMP2, BMP4, PBK, KERA, MMP2, IL1A
4	keratopathy	26.2	BMP2, BMP4, PBK, MMP2, FN1, IL1A
5	keratitis	26.0	KERA, MMP2, MMP8, MMP9, GSR, IL1A
6	encephalomyelitis	25.3	MMP1, MMP10, MMP14, MMP2, MMP3, MMP8
7	cataract	24.4	SERPINF1, VIM, KCNJ13, CIB2, MTHFS, MMP3
8	peritonitis	23.8	SERPINF1, VIM, S100A1, ITGA6, MMP1, MMP14
9	chronic lymphocytic leukemia	23.2	SFRP1, VIM, MMP1, MMP14, MMP2, MMP3
10	lymphocytic leukemia	23.0	SFRP1, VIM, MMP1, MMP14, MMP2, MMP3
11	down syndrome	22.3	S100A1, MMP2, MMP8, MMP9, FN1, GSN
12	colon carcinoma	22.0	SERPINF1, BMP2, ITGA6, MMP1, MMP10, MMP14
13	leukemia	18.5	SFRP1, SERPINF1, VIM, BSG, BMP2, BMP4
14	neuronitis	17.1	CNGA3, VSX1, SFRP1, SERPINF1, VIM, BSG
15	carcinoma	16.1	LRAT, SFRP1, SERPINF1, VIM, BSG, BMP2
16	malignant ovarian cyst	14.0	MMP1, MMP8, PRSS2
17	actinic keratosis	13.9	S100A2, MMP1, MMP2, MMP3, TNC
18	cycloplegia	13.9	KERA, IFITM2, DPT
19	corneal ectasia	13.9	VSX1, FAM189A2, IFITM2, COL4A4
20	localized scleroderma	13.9	MMP1, LOX, DCN
21	fuchs' endothelial dystrophy	13.8	PBK, FBXO7, COL8A1, COL8A2
22	maculopathy	13.8	SERPINF1, LAMC1, MMP2, AIPL1, TIMP3
23	rhyns syndrome	13.8	CNGA3, GUCY2D, AIPL1, TULP1, CRB1, CRX
24	alport syndrome	13.7	MMP3, COL4A3, COL4A4
25	ehlers-danlos syndrome kyphoscoliotic type	13.7	ZNF469, COL8A2, PRDM5
26	autosomal recessive alport syndrome	13.7	COL4A1, COL4A3, COL4A4
27	ehlers-danlos syndrome	13.7	ZNF469, FN1, LOX, TNC, DCN, PRDM5
28	hematuria	13.7	FN1, COL4A1, COL4A3, COL4A4, COL6A1
29	amyloid tumor	13.7	GSN, CTSB, CTSG, RPS27A, KRT12, KRT3
30	nystagmus	13.6	LRAT, CNGA3, MYO7A, KCNJ13, IMPDH1, AKR1A1
31	astigmatism	13.6	VSX1, SERINC1, IRX3, IRX6, GREM2, IFITM2
32	aggressive periodontitis	13.6	MMP1, MMP8, IL1A
33	thymic epithelial tumor	13.6	MMP14, MMP2, NTRK1, TIMP1
34	progressive osseous heteroplasia	13.6	BMP2, BMP4, SPARC, DCN
35	hyperopia	13.6	LRAT, CNGA3, MYO7A, KERA, KCNJ13, GUCY2D
36	keratosis	13.5	S100A2, MMP1, MMP2, MMP3, TNC, SSTR1
37	choroidal dystrophy	13.5	SERPINF1, AIPL1, TIMP3
38	abdominal aortic aneurysm	13.5	MMP1, MMP14, MMP2, MMP3, MMP8, MMP9
39	retinal degeneration	13.4	LRAT, SERPINF1, MYO7A, GUCY2D, IMPDH1, ENO1
40	sorsby fundus dystrophy	13.4	MMP3, MMP9, TIMP1, TIMP3
41	conjunctivochalasis	13.4	MMP1, MMP2, MMP3, MMP9, TIMP1
42	cutaneous fibrous histiocytoma	13.4	S100A1, CTSB, PDGFB
43	glioblastoma	13.4	BSG, MMP2, TNC, SP1, SPARC, NTRK1
44	lymphangioleiomyomatosis	13.4	VIM, BSG, S100A1, MMP1, MMP14, MMP2
45	dermatofibrosarcoma protuberans	13.4	VIM, S100A1, MMP1, MMP14, MMP2, MMP3
46	dermatofibrosarcoma	13.4	VIM, S100A1, MMP1, MMP14, MMP2, MMP3
47	corneal disease	13.4	GSN, IL1A, SP1, KRT12, KRT3, TGFB2
48	factor v leiden thrombophilia	13.4	BMP2, MMP8, FN1, GSR, TNC, SP1
49	coloboma	13.4	BMP4, GUCY2D, AIPL1, TULP1, CRB1, CRX
50	microcystic meningioma	13.3	MMP2, MMP9, TIMP1

Clinical features from OMIM: 148300

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to keratoconus:

²²

MGI Mouse Phenotypes related to keratoconus:

²⁵ (show all 22)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	endocrine/exocrine gland phenotype	MP:0005379	10.1	PTPRF, AQP5, GSN, LAMC1
2	respiratory system phenotype	MP:0005388	9.9	EDA, PDGFB, AQP5, GSN, ISL2, LAMC1
3	other phenotype	MP:0005395	9.6	DST, COL4A3, COL4A2, COL4A1, CTSB, FN1
4	immune system phenotype	MP:0005387	9.1	FBXO7, AKR1A1, PTPRF, SPARC, CTSB, CTSG
5	integument phenotype	MP:0010771	9.1	NTRK1, EDA, ACP2, DSG3, DST, DPT
6	pigmentation phenotype	MP:0001186	8.7	DST, TIMP3, EDA, PDGFB, CRX, CRB1
7	behavior/neurological phenotype	MP:0005386	8.7	NTRK1, CTSF, CTSB, SPARC, SSTR1, CRX
8	renal/urinary system phenotype	MP:0005367	8.6	COL4A4, PDGFB, EDA, ACP2, DST, TGFB2
9	hematopoietic system phenotype	MP:0005397	8.4	COL4A1, COL4A2, PDGFB, ACP2, DSG3, DST
10	hearing/vestibular/ear phenotype	MP:0005377	8.0	SOD1, TGFB2, COL4A4, COL4A3, NTRK1, TNC
11	reproductive system phenotype	MP:0005389	7.9	PTPRF, PDGFB, EDA, TIMP1, TIMP3, DST
12	nervous system phenotype	MP:0003631	7.8	TULP1, TNC, PTPRF, SSTR1, CTSF, NTRK1
13	skeleton phenotype	MP:0005390	7.7	PTPRF, SP1, SPARC, EDA, ACP2, TGFB2
14	digestive/alimentary phenotype	MP:0005381	7.4	CTSB, COL4A4, EDA, DSG3, DST, TGFB1
15	tumorigenesis	MP:0002006	7.3	SPARC, CTSB, CTSG, TIMP1, TGFB1, TGFBI
16	growth/size phenotype	MP:0005378	7.1	EDA, PDGFB, COL4A4, COL4A3, COL4A2, COL4A1
17	mortality/aging	MP:0010768	6.6	COL4A3, COL4A2, COL4A1, CRB1, NTRK1, CTSG
18	muscle phenotype	MP:0005369	6.5	NTRK1, COL4A1, COL6A1, PDGFB, TIMP3, DST
19	vision/eye phenotype	MP:0005391	5.5	SOD1, COL8A2, COL4A2, COL8A1, COL4A1, CRX
20	cellular phenotype	MP:0005384	5.2	TIMP3, ACP2, NID2, COL6A1, COL8A2, COL4A2
21	homeostasis/metabolism phenotype	MP:0005376	4.6	COL4A4, COL4A3, COL4A2, COL4A1, CRB1, CTSB
22	cardiovascular system phenotype	MP:0005385	4.0	COL4A2, COL4A1, SP1, TULP1, LOX, IGF1

Articles related to keratoconus:

(show top 50)    (show all 78)

id	Title	Authors	Year	Affiliating Genes
1	Familial segregation of a VSX1 mutation adds a new di mension to its role in the causation of keratoconus. (21365019)	Paliwal P.... Sharma A.	2011	VSX1
2	Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus. (22003120)	Burdon K.P.... Craig J.E.	2011	HGF
3	Mutation altering the miR-184 seed region causes fami lial keratoconus with cataract. (21996275)	Hughes A.E.... Willoughby C.E.	2011	MIR184
4	Mutational screening of VSX1, SPARC, SOD1, LOX, and T IMP3 in keratoconus. (21976959)	De Bonis P.... Bisceglia L.	2011	SOD1, SPARC, VSX1
5	Analyses of coding sequence point mutation and polym orphism of TGFBI gene in Chinese patients with keratoconus]. (21462125)	Guan T.... Ding S.P.	2011	TGFB1
6	Analysis of the VSX1 gene in keratoconus patients fro m Saudi Arabia. (21403853)	Abu-Amero K.K.... Al-Muammar A.M.	2011	VSX1
7	Secreted frizzled-related protein 1 (SFRP1) is highly upregulated in keratoconus epithelium: a novel finding highlighting a new pote ntial focus for keratoconus research and treatment. (20447100)	Sutton G.... McAvoy J.	2010	SFRP1
8	Genetics and clinical characteristics of keratoconus. (20664914)	Stabuc-Silih M.... Glavac D.	2010	SOD1, COL4A3, COL4A4
9	Absence of pathogenic mutations in VSX1 and SOD1 gene s in patients with keratoconus. (20023586)	Stabuc-Silih M.... Glavac D.	2010	SOD1, VSX1
10	Are proteinases the reason for keratoconus? (20373876)	Balasubramanian S.A.... Willcox M.D.	2010	CTSB, TIMP1
11	A novel VSX1 mutation identified in an individual with keratoconus in India. (19956409)	Paliwal P.... Sharma A.	2009	VSX1
12	Polymorphisms in COL4A3 and COL4A4 genes associated w ith keratoconus. (20029656)	Stabuc-Silih M.... Strazisar M.	2009	COL4A3, COL4A4
13	Correlations of telomere length changing and pathoge ny of keratoconus (20021886)	Wang J.J.... Zang X.J.	2009	RGN
14	CRB1 gene mutations are associated with keratoconus i n patients with leber congenital amaurosis. (19407021)	McMahon T.T.... Malicki J.	2009	GUCY2D, AIPL1, CRB1
15	SOD1 haplotypes in familial keratoconus. (19654524)	Udar N.... Kenney M.C.	2009	SOD1
16	Alterations of extracellular matrix components and proteinases in human corneal buttons with INTACS for post-laser in situ keratomileusis keratectasia and keratoconus. (18520507)	Maguen E.... Ljubimov A.V.	2008	LAMC1, CTSF, COL4A3
17	The expression of human corneal MMP-2, MMP-9, proMMP-13 and TIMP-1 in bullous keratopathy and keratoconus. (19138000)	PredoviA8 J.... Dekaris I.	2008	MMP2, TIMP1
18	Association of -31T>C and -511 C>T polymorphisms in the interleukin 1 beta (IL1B) promoter in Korean keratoconus patients. (19043479)	Kim S.H.... Joo C.K.	2008	IL1B
19	Changes in the balance of the tissue inhibitor of matrix metalloproteinases (TIMPs)-1 and -3 may promote keratocyte apoptosis in keratoconus. (17449031)	Matthews F.J.... Smith V.A.	2007	TIMP1, TIMP3
20	Molecular analysis of the VSX1 gene in familial keratoconus. (17960127)	Liskova P.... Bhatacharya S.S.	2007	VSX1
21	Interleukin-1alpha downregulates extracellular-superoxide dismutase in human corneal keratoconus stromal cells. (17679946)	Olofsson E.M.... Behndig A.	2007	SOD3
22	Keratoconus is not associated with mutations in COL8A1 and COL8A2. (17721297)	Aldave A.J.... Sonmez B.	2007	COL8A1, COL8A2
23	Keratoconus: epidemiology, risk factors and diagnosis (16804819)	Grunauer-Kloevekorn C.... Duncker G.I.	2006	VSX1
24	SOD1: a candidate gene for keratoconus. (16877401)	Udar N.... Kenney M.C.	2006	SOD1
25	No VSX1 gene mutations associated with keratoconus. (16799019)	Aldave A.J.... Rabinowitz Y.S.	2006	VSX1
26	Keratoconus: matrix metalloproteinase-2 activation and TIMP modulation. (16516444)	Smith V.A.... Cook S.D.	2006	MMP2, TIMP1
27	Proteome profiling of corneal epithelium and identification of marker proteins for keratoconus, a pilot study. (16083875)	Nielsen K.... Orntoft T.F.	2006	ENO1, GSN, KRT3
28	EMMPRIN and MMP-1 in keratoconus. (16633034)	Seppala H.P.... Konttinen Y.T.	2006	MMP1, BSG
29	Collagenolytic proteinases in keratoconus. (16783151)	Mackiewicz Z.... Konttinen Y.T.	2006	MMP2, MMP8, MMP1
30	Molecular changes in selected epithelial proteins in human keratoconus corneas compared to normal corneas. (17200661)	Srivastava O.P.... Pfister R.R.	2006	ENO1
31	Histopathological and immunohistochemical studies of lenticules after epikeratoplasty for keratoconus. (15965163)	Nakamura H.... Edward D.P.	2005	SP1
32	Altered expression of CLC, DSG3, EMP3, S100A2, and SLPI in corneal epithelium from keratoconus patients. (16015083)	Nielsen K.... Orntoft T.F.	2005	S100A2, DSG3, CLC
33	Increased levels of catalase and cathepsin V/L2 but decreased TIMP-1 in keratoconus corneas: evidence that oxidative stress plays a role in this disorder. (15728537)	Kenney M.C.... Brown D.J.	2005	GSR, TIMP1
34	A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. (14985379)	Brancati F.... Dallapiccola B.	2004	KTCN3
35	Keratoconus--no association with the transforming growth factor beta-induced gene in a cohort of American patients. (14701952)	Udar N.... Small K.	2004	TGFBI
36	A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families. (12356819)	Tyynismaa H.... Alitalo T.	2002	KTCN2
37	Altered expression of growth factors and cytokines in keratoconus, bullous keratopathy and diabetic human corneas. (11446768)	Saghizadeh M.... Kenney M.C.	2001	IGF1, BMP4, BMP2
38	Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p. (11548141)	Damji K.F.... Koenekoop R.K.	2001	AIPL1
39	Corneal myxoma associated with keratoconus and Down's syndrome. (10928779)	LAcger F.... Vital C.	2000	S100A1
40	Matrix metalloproteinase 2: involvement in keratoconus. (11071029)	Smith V.A.... Easty D.L.	2000	MMP2
41	A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13. (10711674)	Hameed A.... Bhattacharya S.S.	2000	SERPINF1, GUCY2D
42	Enhanced expression of a transmembrane phosphotyrosine phosphatase (LAR) in keratoconus cultures and corneas. (10079136)	Chiplunkar S.... Brown D.J.	1999	PTPRF
43	The expression of tenascin and fibronectin in keratoconus, scarred and normal human cornea. (9143890)	Tuori A.... Uusitalo H.	1997	FN1, TNC
44	Cathepsin G, acid phosphatase, and alpha 1-proteinase inhibitor messenger RNA levels in keratoconus corneas. (9040486)	Whitelock R.B.... Yue B.Y.	1997	CTSG, ACP2
45	Expression of transcription factors in keratoconus, a cornea-thinning disease. (9196072)	Whitelock R.B.... Yue B.Y.	1997	SP1
46	Altered type VI collagen synthesis by keratoconus keratocytes in vitro. (8713119)	Chwa M.... Brown D.J.	1996	MMP2
47	Expression of wound healing and stress-related proteins in keratoconus corneas. (8950507)	Zhou L.... Feder R.S.	1996	VIM, RPS27A
48	Over-expression of a gelatinase A activity in keratoconus. (7498560)	Smith V.A.... Easty D.L.	1995	MMP2
49	Increased gelatinolytic activity in keratoconus keratocyte cultures. A correlation to an altered matrix metalloproteinase-2/tissue inhibitor of metalloproteinase ratio. (8156782)	Kenney M.C.... Brown D.J.	1994	MMP2, TIMP1
50	Molecular genetic analysis in autosomal dominant keratoconus. (1358551)	Rabinowitz Y.S.... Francomano C.A.	1992	COL6A1

Genes related to keratoconus according to GeneCards:

(show top 50)    (show all 117)

id	Symbol	Description	Score	GeneCards Section Context
1	VSX1	visual system homeobox 1	11.1	Publications, Summaries
2	KTCN4	Keratoconus 4	11.0	Aliases & Descriptions, Publications
3	KTCN2	Keratoconus 2	11.0	Publications, Aliases & Descriptions
4	KTCN3	Keratoconus 3	11.0	Aliases & Descriptions, Publications
5	KC6	keratoconus gene 6	11.0	Aliases & Descriptions, Publications, Transcripts
6	ACP2	acid phosphatase 2, lysosomal	11.0	Publications
7	AIPL1	aryl hydrocarbon receptor interacting protein-like 1	11.0	Publications
8	GUCY2D	guanylate cyclase 2D, membrane (retina-specific)	11.0	Publications
9	KRT3	keratin 3	11.0	Publications
10	MMP10	matrix metallopeptidase 10 (stromelysin 2)	11.0	Publications
11	SOD3	superoxide dismutase 3, extracellular	11.0	Publications
12	CTSG	cathepsin G	11.0	Publications
13	ENO1	enolase 1, (alpha)	11.0	Publications
14	DCN	decorin	11.0	Publications
15	CTSB	cathepsin B	11.0	Publications
16	GSN	gelsolin	11.0	Publications
17	MMP14	matrix metallopeptidase 14 (membrane-inserted)	11.0	Publications
18	MMP8	matrix metallopeptidase 8 (neutrophil collagenase)	11.0	Publications
19	TIMP3	TIMP metallopeptidase inhibitor 3	11.0	Publications
20	TNC	tenascin C	11.0	Publications
21	TIMP1	TIMP metallopeptidase inhibitor 1	11.0	Publications
22	FN1	fibronectin 1	11.0	Publications
23	MMP2	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	11.0	Publications
24	MMP3	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	11.0	Publications
25	SP1	Sp1 transcription factor	11.0	Publications
26	MMP1	matrix metallopeptidase 1 (interstitial collagenase)	11.0	Publications
27	KTCN5	Keratoconus 5	11.0	Aliases & Descriptions
28	KTCN6	Keratoconus 6	11.0	Aliases & Descriptions
29	KTCN8	Keratoconus 8	11.0	Aliases & Descriptions
30	KTCN7	Keratoconus 7	11.0	Aliases & Descriptions
31	MIR184	microRNA 184	11.0	Publications
32	EMP3	epithelial membrane protein 3	11.0	Publications
33	RNF113B	ring finger protein 113B	11.0	Disorders
34	KRT12	keratin 12	11.0	Publications
35	KERA	keratocan	11.0	Publications, Expressions
36	COL8A2	collagen, type VIII, alpha 2	11.0	Publications
37	MTHFS	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	11.0	Publications
38	CIB2	calcium and integrin binding family member 2	11.0	Publications
39	TMED3	transmembrane emp24 protein transport domain containing 3	11.0	Publications
40	ISL2	ISL LIM homeobox 2	11.0
41	IRX3	iroquois homeobox 3	11.0
42	IRX6	iroquois homeobox 6	11.0	Disorders
43	CLC	Charcot-Leyden crystal protein	11.0	Publications
44	IFITM2	interferon induced transmembrane protein 2	11.0
45	ZNF469	zinc finger protein 469	11.0
46	KCNJ13	potassium inwardly-rectifying channel, subfamily J, member 13	11.0
47	LRAT	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	11.0
48	TULP1	tubby like protein 1	11.0
49	CTSF	cathepsin F	11.0	Publications
50	RGN	regucalcin (senescence marker protein-30)	11.0	Publications

Pathways related to keratoconus according to GeneDecks:

(show top 50)    (show all 85)

id	Pathway	Score	Top Affiliating Genes
1	Inhibition of Matrix Metalloproteinases36	10.4	MMP9, TIMP3, TIMP1, MMP3, MMP2, MMP14
2	Activation of Matrix Metalloproteinases38	10.3	PRSS2, TIMP1, CTSG, MMP9, MMP8, MMP3
3	Cell adhesion Plasmin signaling10	10.0	TGFB2, COL4A3, LAMC1, FN1, COL4A4, COL4A2
4	Cell adhesion_Endothelial cell contacts by non-junctional mechanisms41	9.9	COL4A4, LAMC1, ITGA6, FN1, COL4A1, COL4A2
5	Cell adhesion Endothelial cell contacts by non-junctional mechanisms10	9.9	ITGA6, FN1, COL4A1, COL4A2, COL4A4, COL4A3
6	ECM-receptor interaction20	9.8	TNC, COL6A1, COL4A4, COL4A2, COL4A1, FN1
7	Integrin Pathway36	9.8	COL6A1, COL4A3, COL8A2, COL4A2, COL8A1, COL4A1
8	FAK1 Signaling36	9.7	COL6A1, LAMC1, ITGA6, FN1, TNC, COL8A1
9	Metalloproteases in connective tissue degradation10	9.7	MMP10, MMP1, LAMC1, MMP14, MMP2, MMP3
10	Ras Pathway36	9.5	TIMP1, TGFB2, ITGA6, BMP2, BMP4, PDGFB
11	Actin-Based Motility by Rho Family GTPases36	9.5	BMP4, GSN, IGF1, NTRK1, ITGA6
12	Cell adhesion_Plasmin signaling41	9.4	COL4A1, COL4A2, LAMC1, COL4A3, TGFB1, COL4A4
13	Inhibition of Angiogenesis by TSP136	9.3	COL4A4, MMP9, COL4A1, TNC, FN1, LAMC1
14	Focal adhesion20	9.3	PDGFB, COL4A4, COL4A1, TNC, FN1, COL6A1
15	UPA-UPAR Pathway36	9.3	COL6A1, COL4A4, MMP9, MMP8, MMP3, MMP2
16	GnRH Signaling36	9.3	COL8A1, COL6A1, COL4A4, COL4A3, LAMC1, ITGA6
17	Transendothelial Migration of Leukocytes36	9.1	MYO7A, ITGA6, CFL1, LAMC1, TNC, MMP1
18	eNOS Signaling36	9.0	PDGFB, TGFB1, TIMP1, NTRK1, AQP5, GUCY2D
19	Amoebiasis20	8.9	CTSG, COL4A4, TGFB1, IL1B, COL4A1, COL4A2
20	PPAR Pathway36	8.8	TGFB2, PDGFB, NTRK1, IGF1, BMP2, ITGA6
21	Cell adhesion_ECM remodeling41	8.8	COL4A1, COL4A2, COL4A3, COL4A4, TIMP1, TIMP3
22	Cell adhesion ECM remodeling10	8.8	LAMC1, MMP2, MMP3, MMP9, FN1, IGF1
23	Paxillin Interactions36	8.7	TIMP1, TGFB2, PDGFB, NTRK1, ITGA6, BMP4
24	PTEN Pathway36	8.7	BMP2, BMP4, LAMC1, ITGA6, FN1, COL8A1
25	ERK5 Signaling36	8.3	HGF, NTRK1, TIMP3, TGFB1, TGFB2, BMP4
26	14-3-3 Induced Intracellular Signaling36	8.3	BMP2, BMP4, IGF1, NTRK1, PDGFB, TIMP3
27	Molecular Mechanisms of Cancer36	8.2	COL8A2, BMP4, ITGA6, FN1, TNFAIP6, COL4A1
28	Apoptotic Pathways in Synovial Fibroblasts36	8.1	HGF, IGF1, NTRK1, PDGFB, BMP2, TIMP1
29	p53 Mediated Apoptosis36	8.0	HGF, TGFB1, BMP4, IGF1, TIMP3, PDGFB
30	Telomerase Components in Cell Signaling36	8.0	NTRK1, PDGFB, TIMP1, IGF1, BMP4, TIMP3
31	Mitochondrial Apoptosis36	8.0	HGF, TGFB2, TGFB1, TIMP3, TIMP1, PDGFB
32	Pathways in cancer20	7.9	HGF, NTRK1, COL4A2, COL4A4, MMP9, MMP2
33	Rac1 Pathway36	7.8	BMP2, BMP4, TGFB2, TGFB1, TIMP3, TIMP1
34	ERK Signaling36	7.8	IL1B, IL1A, FN1, ITGA6, BMP4, BMP2
35	Pancreatic Adenocarcinoma36	7.6	HGF, MMP2, MMP10, MMP3, MMP1, BMP4
36	DHA Signaling36	7.6	TIMP1, HGF, TGFB2, TGFB1, PDGFB, IGF1
37	Rap1 Pathway36	7.6	TGFB2, BMP2, BMP4, ITGA6, IGF1, NTRK1
38	Glioma Invasiveness36	7.6	TGFB2, BMP2, HGF, BMP4, ITGA6, MMP9
39	NF-KappaB (p50-p65) Pathway36	7.4	TGFB2, TGFB1, TIMP3, TIMP1, PDGFB, BMP2
40	NF-KappaB Family Pathway36	7.4	IL1B, IGF1, IL1A, TIMP1, TGFB1, TGFB2
41	JAK-STAT Pathway36	7.1	TIMP1, PDGFB, NTRK1, SP1, IGF1, IL1B
42	PAK Pathway36	7.1	TIMP3, MYO7A, TGFB1, TGFB2, HGF, BMP4
43	TGF-Beta Pathway36	7.1	BMP2, BMP4, PDGFB, HGF, TGFB2, TGFB1
44	Phospholipase-C Pathway36	7.1	PDGFB, FN1, TGFB2, HGF, NTRK1, TNC
45	p38 Signaling36	7.0	IL1B, TGFB2, IGF1, TIMP1, TNFAIP6, PDGFB
46	Antioxidant Action of Vitamin-C36	7.0	NTRK1, PDGFB, TIMP1, TIMP3, TGFB2, HGF
47	Tec Kinases Signaling36	7.0	IL1B, TNFAIP6, NTRK1, PDGFB, TIMP1, TIMP3
48	ILK Signaling36	6.8	NTRK1, COL4A1, COL8A1, COL4A2, BMP2, MYO7A
49	MAPK Signaling36	6.2	HGF, TGFB1, TIMP3, TIMP1, COL8A1, PDGFB
50	Rho Family GTPases36	5.8	TIMP3, FN1, ITGA6, CFL1, LAMC1, BMP4

Compounds related to keratoconus according to GeneDecks:

(show top 50)    (show all 173)

id	Compound	Score	Top Affiliating Genes
1	tgf beta132	10.9	MMP1, MMP14, MMP2, MMP3, FN1, TNC
2	hyaluronic acid32 18	11.4	VIM, MMP1, MMP3, FN1, TNC, TNFAIP6
3	glycosaminoglycan32	10.4	BMP2, MMP8, LOX, TNC, TNFAIP6, TIMP3
4	(4-aminophenyl)mercuric acetate32	10.3	MMP9, MMP8, MMP3, MMP2, MMP10, MMP1
5	batimastat32 42 9 9	13.2	MMP1, MMP10, MMP14, MMP2, MMP3, MMP8
6	h2o232	10.2	SP1, PTPRF, AKR1A1, LOX, MMP8, SOD3
7	marimastat32 42 9 9	13.1	TIMP1, MMP2, MMP8, MMP14, MMP10, MMP3
8	titanium32	9.7	BMP2, BMP4, FN1, SPARC, DCN, SLPI
9	ascorbic acid32 18	10.6	SLPI, BMP4, BMP2, MMP2, IL1A, TNC
10	guanidine hydrochloride32	9.5	TIMP1, RPS27A, AKR1A1, IGFBP5, GSR, FN1
11	12-o-tetradecanoylphorbol 13-acetate32	9.4	DST, TIMP3, TIMP1, NTRK1, SP1, MMP3
12	n acetylcysteine32	9.4	MMP9, LOX, RPS27A, TIMP1, SOD3, MMP3
13	progesterone32 42 9 18 9	13.3	TGFB2, PDGFB, NTRK1, SPARC, MMP8, TNC
14	ly29400232	9.2	CTSB, TIMP3, TGFB1, MMP2, SP1, TIMP1
15	alendronate32 9 9	11.1	SLPI, TIMP1, IGF1, MMP8, BMP2, MMP1
16	vitamin a32 9 18 9	12.0	HGF, ADH1B, SOD1, AIPL1, AKR1A1, LRAT
17	heparan sulfate32 18	10.0	DCN, HGF, TIMP3, SPARC, VIM, BSG
18	hydroxyproline32 18	10.0	MMP2, MMP9, HGF, LOX, SPARC, CTSB
19	aprotinin32 9 9	10.9	IGF1, SLPI, MMP9, FN1, IL1A, IGFBP5
20	oligonucleotide32	8.8	BMP4, BMP2, VIM, MMP10, PDGFB, S100A2
21	heparin32 9 18 9	11.4	SFRP1, SERPINF1, VIM, BSG, BMP2, BMP4
22	cysteine32	8.4	GSN, GREM2, LOX, AKR1A1, PTPRF, SP1
23	arginine32	8.2	TIMP3, BMP2, IL1A, RPS27A, GSR, CTSG
24	alginate32	8.1	IGF1, TGFB1, BMP2, MMP14, MMP2, MMP3
25	calcium32 9 18 9	10.9	MMP1, ENO1, TNC, AQP5, GSN, GUCY2D
26	glutamate32	7.8	MMP3, MMP9, HGF, GSN, GSR, ENO1
27	paraffin32	7.7	CTSG, NTRK1, RPS27A, PDGFB, TIMP1, TIMP3
28	matrigel32	7.5	BMP2, TGFB2, DCN, SLPI, HGF, TGFB1
29	calcitriol32 42 9 18 9	11.4	TGFB1, IL1B, IGFBP5, TGFB2, SLPI, IGF1
30	vitamin d32	7.4	SPARC, TIMP1, TGFB1, TGFB2, SOD3, SLPI
31	cyclosporin a32 42	8.4	CTSB, HGF, SLPI, DCN, TGFB2, TGFB1
32	procollagen32	7.4	MMP2, MMP3, MMP9, IL1A, IGFBP5, IGF1
33	ribonucleic acid32	7.2	MMP2, BMP4, BMP2, MMP1, MMP14, MMP3
34	alanine32	7.1	MMP9, FN1, GSN, GSR, MMP8, MMP3
35	indomethacin32 9 9	9.1	HGF, SOD1, TGFB2, TGFB1, TIMP1, RPS27A
36	lactate32	7.0	CTSG, MMP1, MMP14, MMP2, MMP3, MMP8
37	pd 98,05932	7.0	FN1, IL1B, IGF1, SP1, PDGFB, NTRK1
38	pge232	6.9	MMP8, SLPI, HGF, DCN, TGFB2, TGFB1
39	genistein32 9 18 9	9.8	MMP1, IGF1, SP1, DCN, SPARC, NTRK1
40	thymidine32 18	7.8	PDGFB, CTSG, BMP2, TGFB1, SP1, SPARC
41	sb 20358032 42	7.6	IL1A, SPARC, TIMP1, SP1, MMP2, IGF1
42	retinoic acid32 42 18	8.3	CTSB, CTSG, NTRK1, RPS27A, TIMP1, TIMP3
43	tyrosine32	6.2	SPARC, ITGA6, PTPRF, TNC, SSTR1, SP1
44	actinomycin d32	6.2	TGFB1, SP1, TIMP1, FN1, CTSB, IL1B
45	creatinine32	5.9	CTSG, NTRK1, RPS27A, TGFB1, TGFB2, DCN
46	dexamethasone32 42 34 9 9	9.7	IGFBP5, IGF1, LOX, TNC, TNFAIP6, SP1
47	estrogen32	5.7	NTRK1, VIM, BSG, BMP2, BMP4, S100A1
48	cycloheximide32	5.6	NTRK1, VIM, TIMP1, DST, TGFB1, TGFB2
49	serine32	5.5	IGF1, AKR1A1, TNC, TNFAIP6, PTPRF, SSTR1
50	vegf32	4.9	SERPINF1, IGF1, LOX, TNC, SP1, SPARC

Cellular components related to keratoconus according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	endoplasmic reticulum lumen	GO:005788	9.6	COL6A1, COL4A4, COL4A3, COL8A2, COL4A2, COL8A1
2	collagen type IV	GO:005587	9.6	COL4A4, COL4A3, COL4A2, COL4A1
3	basement membrane	GO:005604	9.5	TGFB2, DST, TIMP3, TIMP1, NID2, COL4A3
4	proteinaceous extracellular matrix	GO:005578	8.9	FN1, TNC, SPARC, COL8A2, TGFB1, TGFBI
5	extracellular matrix	GO:031012	8.8	NID2, TIMP3, TGFB2, TGFBI, DPT, DCN
6	platelet alpha granule lumen	GO:031093	8.1	HGF, TGFB2, TGFB1, TIMP1, PDGFB, SPARC
7	extracellular space	GO:005615	5.7	MMP3, CTSB, CTSG, TGFB1, TGFB2, TGFBI
8	extracellular region	GO:005576	4.6	SERPINF1, GREM2, IL1A, IL1B, IGFBP5, IGF1

Biological processes related to keratoconus according to GeneDecks:

(show all 34)

id	Name	GO ID	Score	Top Affiliating Genes
1	visual perception	GO:007601	10.5	TGFBI, TIMP3, KRT12, CRX, TULP1, AIPL1
2	collagen catabolic process	GO:030574	10.3	PRSS2, MMP9, MMP8, MMP3, MMP2, MMP10
3	extracellular matrix disassembly	GO:022617	10.2	LAMC1, MMP1, MMP10, MMP14, MMP2, MMP3
4	response to organic cyclic compound	GO:014070	10.1	TIMP3, PDGFB, CTSB, ALDH3A1, IL1A, BMP4
5	response to stimulus	GO:050896	10.0	TGFBI, CRX, KERA, VSX1, LRAT
6	response to mechanical stimulus	GO:009612	9.9	DCN, TIMP3, CTSB, MMP9, BMP4, BMP2
7	positive regulation of ossification	GO:045778	9.9	BMP2, BMP4, TGFB2
8	angiogenesis	GO:001525	9.9	TGFBI, TGFB2, COL8A2, COL4A2, COL8A1, COL4A1
9	response to L-ascorbic acid	GO:033591	9.9	SPARC, IL1B, IL1A
10	proteolysis	GO:006508	9.8	HGF, PRSS2, CTSG, CTSF, CTSB, MMP9
11	response to wounding	GO:009611	9.8	TGFB2, TGFB1, DST, PDGFB, CTSB, TNC
12	cell adhesion	GO:007155	9.7	COL6A1, NID2, DST, TGFBI, DPT, COL4A3
13	extracellular matrix organization	GO:030198	9.6	MMP1, PRSS2, TIMP1, COL6A1, COL4A4, MMP10
14	wound healing	GO:042060	9.5	IL1A, IL1B, LOX, TGFB2, DCN
15	response to retinoic acid	GO:032526	9.5	TGFB2, MMP9, BMP4, BMP2, SERPINF1
16	aging	GO:007568	9.5	DCN, TGFB2, TGFB1, TIMP3, TIMP1, ALDH3A1
17	cellular response to growth factor stimulus	GO:071363	9.5	TGFB1, NTRK1, SPARC, BMP4, BMP2, SFRP1
18	odontogenesis of dentin-containing tooth	GO:042475	9.3	EDA, ITGA6, BMP4, BMP2, BSG
19	positive regulation of ERK1 and ERK2 cascade	GO:070374	9.2	PDGFB, NTRK1, IL1B, IL1A, BMP4, BMP2
20	cell growth	GO:016049	9.2	EMP3, TGFB2, TGFB1, PDGFB, MMP9
21	cellular response to organic cyclic compound	GO:071407	9.1	TGFB1, IGFBP5, IL1B, ITGA6, BMP2
22	embryo implantation	GO:007566	9.0	SOD1, IL1B, MMP9, BSG
23	positive regulation of cell division	GO:051781	9.0	TGFB2, TGFB1, PDGFB, IL1B, IL1A
24	epithelial to mesenchymal transition	GO:001837	8.9	HGF, TGFB2, TGFB1, BMP2
25	positive regulation of epithelial cell proliferation	GO:050679	8.9	TGFB1, IGF1, LAMC1, BMP4, SFRP1
26	inner ear development	GO:048839	8.8	TGFB2, TGFB1, SPARC, IGF1, BMP2
27	response to estradiol stimulus	GO:032355	8.7	TGFB2, TGFB1, PDGFB, IL1B, MMP9, BMP4
28	positive regulation of mitosis	GO:045840	8.7	PDGFB, IGF1, IL1B, IL1A
29	positive regulation of apoptotic process	GO:043065	8.6	SOD1, TGFB2, IL1B, MMP9, ITGA6, BMP4
30	platelet degranulation	GO:002576	8.3	HGF, SOD1, TGFB2, TGFB1, TIMP1, PDGFB
31	response to hypoxia	GO:001666	8.2	SOD3, TGFB2, TGFB1, PDGFB, ALDH3A1, IL1B
32	platelet activation	GO:030168	8.2	HGF, SOD1, TGFB2, TGFB1, TIMP1, PDGFB
33	negative regulation of cell proliferation	GO:008285	7.6	EMP3, DPT, TGFB2, TGFB1, COL4A3, NTRK1
34	blood coagulation	GO:007596	7.4	PDGFB, TIMP1, TGFB1, TGFB2, SOD1, HGF

Molecular functions related to keratoconus according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular matrix structural constituent	GO:005201	9.9	LAMC1, COL4A4, COL4A3, COL8A2, COL4A2, COL4A1
2	metalloendopeptidase activity	GO:004222	9.6	MMP9, MMP8, MMP3, MMP2, MMP14, MMP10
3	calcium ion binding	GO:005509	9.6	SPARC, CRB1, NID2, DSG3, DST, PRSS2
4	collagen binding	GO:005518	9.5	DCN, PDGFB, NID2, SPARC, FN1, MMP9
5	growth factor activity	GO:008083	7.5	TGFB2, TGFB1, PDGFB, IGF1, IL1B, BMP4
6	protein binding	GO:005515	2.8	WDR61, PDGFB, NID2, COL4A3, COL4A2, COL4A1