Keratoconus 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

KTCN1 MCID: KRT029 MIFTS: 33	Keratoconus 1 (KTCN1) Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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Aliases & Classifications for Keratoconus 1

MalaCards integrated aliases for Keratoconus 1:

Name: Keratoconus 1 ⁵⁶ ⁷³ ²⁹ ¹³ ⁶ ⁷¹

Ktcn1 ⁵⁶ ⁷³

Keratoconus, Type 1 ³⁹

Characteristics:

OMIM:

⁵⁶

Miscellaneous:
young adult onset
precipitation by pregnancy

Inheritance:
autosomal dominant

HPO:

³¹

keratoconus 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course young adult onset

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 148300

OMIM Phenotypic Series ⁵⁶ PS148300

MedGen ⁴¹ C1835677

SNOMED-CT via HPO ⁶⁸ 263681008 65636009 82649003

UMLS ⁷¹ C1835677

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Summaries for Keratoconus 1

OMIM : ⁵⁶ Keratoconus, the most common corneal dystrophy, is a bilateral, noninflammatory progressive corneal ectasia. Clinically, the cornea becomes progressively thin and conical, resulting in myopia, irregular astigmatism, and corneal scarring. The disease usually arises in the teenage years, eventually stabilizing in the third and fourth decades. The incidence of keratoconus is 1 in 2,000 in the general population; it occurs with no ethnic or gender preponderance, and causes significant visual impairment in young adults. No specific treatment exists except to replace the corneal tissue by surgery (corneal transplantation) when visual acuity can no longer be corrected by contact lenses (summary by Dash et al., 2006). Ihalainen (1986) reviewed various conditions with which keratoconus is at times associated. Keratoconus is frequent in cases of amaurosis congenita of Leber (204000). (148300)

MalaCards based summary : Keratoconus 1, also known as ktcn1, is related to keratoconus 5 and keratoconus 6. An important gene associated with Keratoconus 1 is VSX1 (Visual System Homeobox 1), and among its related pathways/superpathways is Shigellosis. The drugs Riboflavin and Vitamin B2 have been mentioned in the context of this disorder. Affiliated tissues include eye, and related phenotypes are keratoconus and astigmatism

UniProtKB/Swiss-Prot : ⁷³ Keratoconus 1: Frequent corneal dystrophy with an incidence that varies from 50 to 230 per 100'000. The cornea assumes a conical shape as a result of a progressive non-inflammatory thinning of the corneal stroma. Keratoconus is most often an isolated sporadic condition with cases of autosomal dominant and autosomal recessive transmission.

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Related Diseases for Keratoconus 1

Diseases in the Keratoconus family:

Keratoconus 1	Keratoconus 3
Keratoconus 2	Keratoconus 4
Keratoconus 5	Keratoconus 6
Keratoconus 8	Keratoconus 7
Keratoconus 9

Diseases related to Keratoconus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)

#	Related Disease	Score	Top Affiliating Genes
1	keratoconus 5	11.2
2	keratoconus 6	11.2
3	keratoconus 8	11.2
4	keratoconus 7	11.2
5	regular astigmatism	10.0	ZNF469 VSX1
6	irregular astigmatism	10.0	ZNF469 VSX1
7	corneal ectasia	10.0	ZNF469 VSX1
8	brittle cornea syndrome 2	9.9	ZNF469 VSX1
9	fuchs' endothelial dystrophy	9.9	ZNF469 VSX1
10	corneal disease	9.8	ZNF469 VSX1
11	brittle bone disorder	9.7	ZNF469 VSX1
12	keratoconus	8.3	ZNF469 VSX1 SKP1 PROB1 IL17B HKDC1

Graphical network of the top 20 diseases related to Keratoconus 1:

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Symptoms & Phenotypes for Keratoconus 1

Human phenotypes related to Keratoconus 1:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	keratoconus ³¹		HP:0000563
2	astigmatism ³¹		HP:0000483

Symptoms via clinical synopsis from OMIM:

⁵⁶

Head And Neck Eyes:
keratoconus
astigmatism
predictors of acute corneal hydrops
increased epithelial thickening
stromal thinning at the cone
more

Clinical features from OMIM:

148300

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Drugs & Therapeutics for Keratoconus 1

Drugs for Keratoconus 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Riboflavin

Approved, Investigational, Nutraceutical, Vet_approved

Phase 3

83-88-5

493570

Synonyms:

(-)-Riboflavin

1-Deoxy-1-(3,4-dihydro-7,8-dimethyl-2,4-dioxobenzo[g]pteridin-10(2H)-yl)-D-ribitol

1-Deoxy-1-(7,8-dimethyl-2,4-dioxo-3,4-dihydrobenzo[g]pteridin-10(2H)-yl)pentitol

6,7-Dimethyl-9-D-ribitylisoalloxazine

6,7-Dimethyl-9-ribitylisoalloxazine

7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)benzo[g]pteridine-2,4(3H,10H)-dione

7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)-benzo[g]pteridine-2,4(3H,10H)-dione

7,8-Dimethyl-10-(D-ribo-2,3,4,5-tetrahydroxypentyl)isoalloxazine

7,8-Dimethyl-10-ribitylisoalloxazine

Beflavin

Beflavine

benzo[g]Pteridine riboflavin deriv.

e 101

e101

Flavaxin

Flavin BB

Flaxain

FOOD Yellow 15

Hyre

Lactobene

Lactoflavin

Lactoflavine

Ribipca

Ribocrisina

Riboderm

Riboflavin

Riboflavina

Riboflavine

RIBOFLAVINE

Riboflavinum

Ribosyn

Ribotone

Ribovel

Russupteridine yellow III

San yellow b

Vitaflavine

Vitamin b 2

Vitamin b2

Vitamin B2

Vitamin Bi

Vitamin g

Vitamin G

Vitasan b2

Vitamin B2

Phase 3

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Comparison of Corneal Collagen Cross-Linking Performed With "Epi-ON" Versus "Epi-OFF" Techniques in Eyes With Keratoconus and Other Corneal Ectatic Disorders	Not yet recruiting	NCT03858036	Phase 3	Ricrolin+

Search NIH Clinical Center for Keratoconus 1

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Genetic Tests for Keratoconus 1

Genetic tests related to Keratoconus 1:

#	Genetic test	Affiliating Genes
1	Keratoconus 1 ²⁹	VSX1

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Anatomical Context for Keratoconus 1

MalaCards organs/tissues related to Keratoconus 1:

⁴⁰

Eye

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Publications for Keratoconus 1

Articles related to Keratoconus 1:

(show top 50) (show all 56)

#	Title	Authors	PMID	Year
1	Mutational screening of VSX1, SPARC, SOD1, LOX, and TIMP3 in keratoconus. ⁵⁶ ⁶	De Bonis P...Bisceglia L	21976959	2011
2	Three VSX1 gene mutations, L159M, R166W, and H244R, are not associated with keratoconus. ⁵⁶ ⁶	Tang YG...Rabinowitz YS	18216574	2008
3	VSX1 mutational analysis in a series of Italian patients affected by keratoconus: detection of a novel mutation. ⁶ ⁵⁶	Bisceglia L...Zelante L	15623752	2005
4	VSX1: a gene for posterior polymorphous dystrophy and keratoconus. ⁶ ⁵⁶	Heon E...Stone EM	11978762	2002
5	Anatomic Predictive Factors of Acute Corneal Hydrops in Keratoconus: An Optical Coherence Tomography Study. ⁵⁶	Fuentes E...Laroche L	26045363	2015
6	Analysis of the SOD1 Gene in Keratoconus Patients from Saudi Arabia. ⁵⁶	Al-Muammar AM...Abu-Amero KK	24547927	2015
7	Attenuation of lysyl oxidase and collagen gene expression in keratoconus patient corneal epithelium corresponds to disease severity. ⁵⁶	Shetty R...Ghosh A	25593510	2015
8	Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus. ⁵⁶	Lechner J...Willoughby CE	24895405	2014
9	Mutational screening of VSX1 in keratoconus patients from the European population. ⁵⁶	Dash DP...Willoughby CE	19763142	2010
10	Genetics and clinical characteristics of keratoconus. ⁵⁶	Stabuc-Silih M...Glavac D	20664914	2010
11	Changes in the balance of the tissue inhibitor of matrix metalloproteinases (TIMPs)-1 and -3 may promote keratocyte apoptosis in keratoconus. ⁵⁶	Matthews FJ...Smith VA	17449031	2007
12	SOD1: a candidate gene for keratoconus. ⁵⁶	Udar N...Kenney MC	16877401	2006
13	Fine mapping of the keratoconus with cataract locus on chromosome 15q and candidate gene analysis. ⁵⁶	Dash DP...Hughes AE	16735990	2006
14	Accumulation of mitochondrial DNA damage in keratoconus corneas. ⁵⁶	Atilano SR...Kenney MC	15790887	2005
15	Inflammatory molecules in the tears of patients with keratoconus. ⁵⁶	Lema I...Duran JA	15808258	2005
16	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. ⁵⁶	Kenney MC...Brown DJ	15728537	2005
17	Longitudinal study of the normal eyes in unilateral keratoconus patients. ⁵⁶	Li X...Yang H	15019316	2004
18	Identification of differentially expressed genes in keratoconus epithelium analyzed on microarrays. ⁵⁶	Nielsen K...Orntoft TF	12766045	2003
19	Tear function and ocular surface changes in keratoconus. ⁵⁶	Dogru M...Tsubota K	12799234	2003
20	Preliminary findings in corneal allograft rejection in patients with keratoconus. ⁵⁶	Hargrave S...Niederkorn J	12654360	2003
21	Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia. ⁵⁶	Fullerton J...Forrest S	12073017	2002
22	Androgen-dependent hereditary mouse keratoconus: linkage to an MHC region. ⁵⁶	Tachibana M...Matsushima Y	11773012	2002
23	Corneal ectasia after laser-assisted in situ keratomileusis. ⁵⁶	Jabbur NS...Green WR	11709027	2001
24	Genetic epidemiological study of keratoconus: evidence for major gene determination. ⁵⁶	Wang Y...Yang H	10951465	2000
25	Health care concerns and guidelines for adults with Down syndrome. ⁵⁶	van Allen MI...Jurenka SB	10559765	1999
26	A 48-year clinical and epidemiologic study of keratoconus. ⁵⁶	Kennedy RH...Dyer JA	3513592	1986
27	Clinical and epidemiological features of keratoconus genetic and external factors in the pathogenesis of the disease. ⁵⁶	Ihalainen A	3019073	1986
28	The ocular features of Down's syndrome. ⁵⁶	Shapiro MB...France TD	3160242	1985
29	[Genetic aspects of keratoconus (author's transl)]. ⁵⁶	Hallermann W...Wilson EJ	894997	1977
30	Dominantly inherited keratoconus. ⁵⁶	Falls HF...Allen AW	5387413	1969
31	THE SIGNIFICANCE OF HEREDITY IN OPHTHALMOLOGY. PRELIMINARY SURVEY OF HEREDITARY EYE DISEASES IN TASMANIA. ⁵⁶	Hamilton JB	18169511	1938
32	A computational analysis of retinal image quality in eyes with keratoconus. ⁶¹	Nilagiri VK...Bharadwaj SR	31992755	2020
33	Regenerative Surgery of the Corneal Stroma for Advanced Keratoconus: 1-Year Outcomes. ⁶¹	Alio JL...De Miguel MP	30772348	2019
34	Transepithelial accelerated corneal collagen cross-linking with higher oxygen availability for keratoconus: 1-year results. ⁶¹	Sun L...Zhou X	29116549	2018
35	United States Multicenter Clinical Trial of Corneal Collagen Crosslinking for Keratoconus Treatment. ⁶¹	Hersh PS...United States Crosslinking Study Group	28495149	2017
36	Refractive improvements and safety with topography-guided corneal crosslinking for keratoconus: 1-year results. ⁶¹	Nordstrom M...Behndig A	27899371	2017
37	Topographic outcomes after corneal collagen crosslinking in progressive keratoconus: 1-year follow-up. ⁶¹	Tiveron MC...Kara-Junior N	28591281	2017
38	Keratoconus in Inflammatory Bowel Disease Patients: A Cross-sectional Study. ⁶¹	Trechot F...Peyrin-Biroulet L	26351387	2015
39	Changes in corneal topography and biomechanical properties after collagen cross linking for keratoconus: 1-year results. ⁶¹	Sedaghat M...Bamdad S	25949080	2015
40	Corneal transparency after cross-linking for keratoconus: 1-year follow-up. ⁶¹	Gutierrez R...Gonzalez-Meijome JM	23347372	2012
41	Safety and efficacy of simultaneous corneal collagen cross-linking with topography-guided PRK in managing low-grade keratoconus: 1-year follow-up. ⁶¹	Tuwairqi WS...Sinjab MM	22443804	2012
42	Fluid-filled scleral contact lenses in vernal keratoconjunctivitis. ⁶¹	Rathi VM...Sangwan VS	22367220	2012
43	[Corneal cross-linking with hypo-osmolar riboflavin solution for keratoconus with thin corneas]. ⁶¹	Raiskup F...Pillunat LE	21858523	2011
44	[Corneal cross-linking--modern method of keratoconus treatment]. ⁶¹	Strmenova E...Gerinec A	21416705	2010
45	Corneal volume, pachymetry, and correlation of anterior and posterior corneal shape in subclinical and different stages of clinical keratoconus. ⁶¹	Pinero DP...Miranda M	20457375	2010
46	Keratoconus detection using corneal topography. ⁶¹	Holladay JT	19848378	2009
47	The therapeutic and optical application of a rigid gas permeable semi-limbal diameter contact lens. ⁶¹	Evans J...Hau S	19442562	2009
48	[A preliminary report of epikeratophakia combined with two-stage photorefractive keratectomy in the treatment of keratoconus]. ⁶¹	Xie LX...Gao H	17605905	2007
49	Angle closure in highly myopic eyes. ⁶¹	Barkana Y...Ritch R	16427698	2006
50	Prevalence and causes of blindness and visual impairment among school children in south-western Nigeria. ⁶¹	Ajaiyeoba AI...Oluleye TS	17200795	2005

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Genes for Keratoconus 1

Genes related to Keratoconus 1 (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	VSX1	Visual System Homeobox 1	Protein Coding	916.97	Molecular basis known ⁵⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)
2	ZNF469	Zinc Finger Protein 469	Protein Coding	408.57	Pathogenic ⁶ GeneCards inferred via : Variants (show sections)
3	HKDC1	Hexokinase Domain Containing 1	Protein Coding	6.82	GeneCards inferred via : Variants (show sections)
4	IL17B	Interleukin 17B	Protein Coding	6.82	GeneCards inferred via : Variants (show sections)
5	PCYOX1L	Prenylcysteine Oxidase 1 Like	Protein Coding	6.82	GeneCards inferred via : Variants (show sections)
6	PROB1	Proline Rich Basic Protein 1	Protein Coding	6.82	GeneCards inferred via : Variants (show sections)
7	SKP1	S-Phase Kinase Associated Protein 1	Protein Coding	6.82	GeneCards inferred via : Variants (show sections)

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Variations for Keratoconus 1

ClinVar genetic disease variations for Keratoconus 1:

⁶ (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	ZNF469	NM_001367624.1(ZNF469):c.8996G>T (p.Gly2999Val)	SNV	Pathogenic	126932	rs273585625	16:88502874-88502874	16:88436466-88436466
2	ZNF469	NM_001367624.1(ZNF469):c.5681A>T (p.Gln1894Leu)	SNV	Pathogenic	126944	rs281865150	16:88499559-88499559	16:88433151-88433151
3	ZNF469	NM_001367624.1(ZNF469):c.11185G>A (p.Gly3729Ser)	SNV	Pathogenic	126918	rs273585629	16:88505063-88505063	16:88438655-88438655
4	ZNF469	NM_001367624.1(ZNF469):c.11699C>T (p.Pro3900Leu)	SNV	Pathogenic	126919	rs273585630	16:88505577-88505577	16:88439169-88439169
5	ZNF469	NM_001367624.1(ZNF469):c.290C>T (p.Pro97Leu)	SNV	Pathogenic	126923	rs273585617	16:88494168-88494168	16:88427760-88427760
6	ZNF469	NM_001367624.1(ZNF469):c.3119A>C (p.Lys1040Thr)	SNV	Pathogenic	126924	rs273585619	16:88496997-88496997	16:88430589-88430589
7	ZNF469	NM_001367624.1(ZNF469):c.4447G>T (p.Ala1483Ser)	SNV	Pathogenic	126925	rs273585620	16:88498325-88498325	16:88431917-88431917
8	ZNF469	NM_001367624.1(ZNF469):c.6179C>A (p.Ser2060Tyr)	SNV	Pathogenic	126928	rs273585623	16:88500057-88500057	16:88433649-88433649
9	ZNF469	NM_001367624.1(ZNF469):c.6809C>A (p.Ser2270Tyr)	SNV	Pathogenic	126929	rs273585624	16:88500687-88500687	16:88434279-88434279
10	ZNF469	NM_001367624.1(ZNF469):c.77G>C (p.Ser26Thr)	SNV	Pathogenic	126931	rs273585616	16:88493955-88493955	16:88427547-88427547
11	ZNF469	NM_001367624.1(ZNF469):c.2063C>A (p.Thr688Asn)	SNV	Pathogenic	126938	rs281865146	16:88495941-88495941	16:88429533-88429533
12	ZNF469	NM_001367624.1(ZNF469):c.2699C>G (p.Pro900Arg)	SNV	Pathogenic	126939	rs273585618	16:88496577-88496577	16:88430169-88430169
13	ZNF469	NM_001367624.2(ZNF469):c.2898_2903GTCGGG[1] (p.967_968SG[1])	short repeat	Pathogenic	126940	rs281865147	16:88496773-88496778	16:88430365-88430370
14	ZNF469	NM_001367624.1(ZNF469):c.337G>A (p.Glu113Lys)	SNV	Pathogenic	126942	rs281865144	16:88494215-88494215	16:88427807-88427807
15	ZNF469	NM_001367624.1(ZNF469):c.7931G>A (p.Arg2644Gln)	SNV	Likely pathogenic	126946	rs281865152	16:88501809-88501809	16:88435401-88435401
16	ZNF469	NM_001367624.1(ZNF469):c.99G>A (p.Pro33=)	SNV	Likely pathogenic	126936	rs273585631	16:88493977-88493977	16:88427569-88427569
17	ZNF469	NM_001367624.1(ZNF469):c.720G>A (p.Glu240=)	SNV	Likely pathogenic	126930	rs273585632	16:88494598-88494598	16:88428190-88428190
18	ZNF469	NM_001367624.1(ZNF469):c.5144G>A (p.Arg1715Lys)	SNV	Likely pathogenic	126943	rs281865149	16:88499022-88499022	16:88432614-88432614
19	ZNF469	NM_001367624.1(ZNF469):c.10927C>T (p.Leu3643=)	SNV	Likely pathogenic	126917	rs273585637	16:88504805-88504805	16:88438397-88438397
20	ZNF469	NM_001367624.1(ZNF469):c.2478G>T (p.Pro826=)	SNV	Likely pathogenic	126920	rs273585634	16:88496356-88496356	16:88429948-88429948
21	ZNF469	NM_001367624.1(ZNF469):c.2699C>T (p.Pro900Leu)	SNV	Conflicting interpretations of pathogenicity	126922	rs273585618	16:88496577-88496577	16:88430169-88430169
22	ZNF469	NM_001367624.1(ZNF469):c.1020C>T (p.Gly340=)	SNV	Conflicting interpretations of pathogenicity	126915	rs273585633	16:88494898-88494898	16:88428490-88428490
23	VSX1	NM_014588.5(VSX1):c.731A>G (p.His244Arg)	SNV	Conflicting interpretations of pathogenicity	337959	rs148957473	20:25058398-25058398	20:25077762-25077762
24	ZNF469	NM_001367624.1(ZNF469):c.9919A>G (p.Thr3307Ala)	SNV	Uncertain significance	126935	rs273585627	16:88503797-88503797	16:88437389-88437389
25	SKP1	NM_170679.3(SKP1):c.456+19T>G	SNV	Uncertain significance	225700	rs1114167278	5:133494127-133494127	5:134158436-134158436
26	PROB1	NM_001161546.2(PROB1):c.671G>A (p.Gly224Asp)	SNV	Uncertain significance	225701	rs1114167279	5:138730100-138730100	5:139394411-139394411
27	IL17B	NM_014443.3(IL17B):c.527G>A (p.Cys176Tyr)	SNV	Uncertain significance	225702	rs201298520	5:148753948-148753948	5:149374385-149374385
28	HKDC1	NM_025130.4(HKDC1):c.850G>A (p.Gly284Ser)	SNV	Uncertain significance	225703	rs202105296	10:71003096-71003096	10:69243340-69243340
29	VSX1	NM_014588.5(VSX1):c.496C>T (p.Arg166Trp)	SNV	Uncertain significance	5247	rs74315432	20:25060079-25060079	20:25079443-25079443
30	ZNF469	NM_001367624.1(ZNF469):c.9131C>T (p.Thr3044Met)	SNV	Uncertain significance	126933	rs273585626	16:88503009-88503009	16:88436601-88436601
31	ZNF469	NM_001367624.1(ZNF469):c.7831G>A (p.Glu2611Lys)	SNV	Uncertain significance	126945	rs281865151	16:88501709-88501709	16:88435301-88435301
32	ZNF469	NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del)	deletion	Likely benign	126947	rs281865162	16:88502972-88502986	16:88436564-88436578
33	ZNF469	NM_001367624.1(ZNF469):c.9555C>G (p.Ala3185=)	SNV	Likely benign	126934	rs273585636	16:88503433-88503433	16:88437025-88437025
34	VSX1	NM_014588.5(VSX1):c.475T>A (p.Leu159Met)	SNV	Likely benign	5249	rs74315434	20:25060100-25060100	20:25079464-25079464
35	VSX1	NM_014588.5(VSX1):c.50T>C (p.Leu17Pro)	SNV	Likely benign	5251	rs74315436	20:25062683-25062683	20:25082047-25082047
36	ZNF469	NM_001367624.1(ZNF469):c.2643C>G (p.Ser881=)	SNV	Benign	126921	rs273585635	16:88496521-88496521	16:88430113-88430113
37	ZNF469	NM_001367624.1(ZNF469):c.10573G>A (p.Glu3525Lys)	SNV	Benign	126916	rs273585628	16:88504451-88504451	16:88438043-88438043
38	ZNF469	NM_001367624.1(ZNF469):c.4910G>C (p.Arg1637Pro)	SNV	Benign	126926	rs273585621	16:88498788-88498788	16:88432380-88432380
39	ZNF469	NM_001367624.1(ZNF469):c.6091G>A (p.Glu2031Lys)	SNV	Benign	126927	rs273585622	16:88499969-88499969	16:88433561-88433561
40	ZNF469	NM_001367624.1(ZNF469):c.1627G>A (p.Gly543Ser)	SNV	Benign	126937	rs281865145	16:88495505-88495505	16:88429097-88429097
41	ZNF469	NM_001367624.1(ZNF469):c.3320G>A (p.Arg1107Gln)	SNV	Benign	126941	rs281865148	16:88497198-88497198	16:88430790-88430790

UniProtKB/Swiss-Prot genetic disease variations for Keratoconus 1:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	VSX1	p.Arg166Trp	VAR_014246	rs74315432
2	VSX1	p.Gln175His	VAR_063100	rs771561481
3	VSX1	p.Leu17Pro	VAR_066670	rs74315436

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Expression for Keratoconus 1

Search GEO for disease gene expression data for Keratoconus 1.

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Pathways for Keratoconus 1

Pathways related to Keratoconus 1 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Shigellosis ³⁶	11.01	SKP1 HKDC1

Sources

GO Terms for Keratoconus 1

Sources

Sources for Keratoconus 1

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Keratoconus 1 (KTCN1)

Aliases & Classifications for Keratoconus 1

MalaCards integrated aliases for Keratoconus 1:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Keratoconus 1

Related Diseases for Keratoconus 1

Diseases in the Keratoconus family:

Diseases related to Keratoconus 1 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Keratoconus 1:

Symptoms & Phenotypes for Keratoconus 1

Human phenotypes related to Keratoconus 1:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Keratoconus 1

Drugs for Keratoconus 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

Interventional clinical trials:

Genetic Tests for Keratoconus 1

Genetic tests related to Keratoconus 1:

Anatomical Context for Keratoconus 1

MalaCards organs/tissues related to Keratoconus 1:

Publications for Keratoconus 1

Articles related to Keratoconus 1:

Genes for Keratoconus 1

Genes related to Keratoconus 1 (2 elite genes):

Variations for Keratoconus 1

ClinVar genetic disease variations for Keratoconus 1:

UniProtKB/Swiss-Prot genetic disease variations for Keratoconus 1:

Expression for Keratoconus 1

Pathways for Keratoconus 1

Pathways related to Keratoconus 1 according to GeneCards Suite gene sharing:

GO Terms for Keratoconus 1

Sources for Keratoconus 1