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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Corneal Diseases (D003316)
Parent Node: Eye Diseases, Hereditary (D015785)
..Starting node ..Cornea Plana 2 (C565677)
Child Nodes:
Sister Nodes:
..Achromatopsia 4 (C564206)
..Achromatopsia 5 (C567759)
..Acrootoocular Syndrome (C564866)
..Aicardi Syndrome (D058540) 1
..Alacrima (C562827)
..Alacrima, Congenital (C566307)
..Albinism (D000417) 30
..Aniridia (D015783) 10
..Ataxia-Microcephaly-Cataract Syndrome (C563086)
..Basal Laminar Drusen (C563034)
..Bestrophinopathy (C567518)
..Bothnia Retinal Dystrophy (C564392)
..Cataract, Congenital Nuclear, Autosomal Recessive 1 (C563728)
..Cataract, Congenital Nuclear, Autosomal Recessive 2 (C565725)
..Cataract, Congenital Nuclear, Autosomal Recessive 3 (C566923)
..Cataract, Floriform (C566160)
..Cataract, Pulverulent (C563426)
..Cavitary Optic Disc Anomalies (C566924)
..Cholestasis with Gallstone, Ataxia, and Visual Disturbance (C565856)
..Choroideremia (D015794) 2
..Congenital Fibrosis of the Extraocular Muscles (C580012)
..Cornea Plana 1 (C565158)
..Cornea Plana 2 (C565677)
..Corneal Dystrophies, Hereditary (D003317) 61
..CSNB1C (C567704)
..Drusen, Radial, Autosomal Dominant (C565088)
..Duane Retraction Syndrome (D004370) 2
..Enhanced S-Cone Syndrome (C564835)
..Fibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..Fibrosis Of Extraocular Muscles, Congenital, 3A, with or without Extraocular Involvement (C567572)
..Fibrosis of Extraocular Muscles, Congenital, 3B (C567739)
..Fibrosis of Extraocular Muscles, Congenital, 3C (C567666)
..Fleck Retina, Familial Benign (C565564)
..Foveal Hypoplasia with Anterior Segment Anomalies (C565006)
..Foveal Hypoplasia, Isolated (C565005)
..Graves Ophthalmopathy (D049970)
..Grouped Pigmentation of the Macula (C565530)
..Gyrate Atrophy (D015799) 1
..Histiocytic Dermatoarthritis (C564183)
..Hyperopia, High (C565497)
..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..Iris Pigment Epithelium Anomalies (C566651)
..Joubert Syndrome 8 (C567358)
..Leber Congenital Amaurosis (D057130) 20
..Macular Dystrophy, X-Linked (C564110)
..Megalocornea (C562829)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..Mydriasis, Congenital (C563221)
..Night blindness, congenital stationary (C536122) 4
..Night Blindness, Congenital Stationary, Autosomal Dominant 1 (C566474)
..Night Blindness, Congenital Stationary, Autosomal Dominant 2 (C566869)
..Night Blindness, Congenital Stationary, Autosomal Dominant 3 (C566475)
..Omphalocele, Diaphragmatic Hernia, And Radial Ray Defects (C563701)
..Ophthalmomandibulomelic Dysplasia (C563501)
..Optic Atrophies, Hereditary (D015418) 30
..Peripapillary Atrophy, Beta Type (C566898)
..Persistent Hyperplastic Primary Vitreous, Autosomal Recessive (C566966)
..Pigmented Paravenous Chorioretinal Atrophy (C566801)
..Prolonged Electroretinal Response Suppression (C564243)
..Pseudoglaucoma (C566748)
..Pseudopapilledema (C562401)
..Retinal Aplasia (C566720)
..Retinal Dysplasia (D015792) 2
..Retinal Dystrophy, Early Onset Severe (C565741)
..Retinitis Pigmentosa (D012174) 132
..Retinohepatoendocrinologic Syndrome (C564839)
..Rhegmatogenous Retinal Detachment, Autosomal Dominant (C563710)
..Spondyloocular Syndrome, Autosomal Recessive (C565285)
..Stickler Syndrome, Type I, Nonsyndromic Ocular (C563709)
..Vascular Hyalinosis (C564750)
..Vitelliform Macular Dystrophy (D057826) 2
..Vitreoretinochoroidopathy (C536352)
..Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia (C565179)
..Walker-Warburg Syndrome (D058494) 7
..Weill-Marchesani Syndrome (D056846)
..Weill-Marchesani-Like Syndrome (C567710)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

2751

Name:

Cornea Plana 2

Definition:

Alternative IDs:

OMIM:217300

ParentIDs:

MESH:D003316|MESH:D015785

TreeNumbers:

C11.204/C565677 |C11.270/C565677 |C16.320.290/C565677

Synonyms:

CNA2

Slim Mappings:

Eye disease|Genetic disease (inborn)

Reference:

MedGen: C565677
MeSH: C565677
OMIM: 217300;

Genes: KERA;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001084	Corneal arcus
3	HP:0100689	Decreased corneal thickness
4	HP:0007720	Flat cornea
5	HP:0000540	Hypermetropia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_007035.3(KERA):c.1026delC (p.Cys343Alafs)	11081	KERA	Likely pathogenic	386833984	RCV000049961;	N	MedGen:C1857574,OMIM:217300	12	91445156	91445156	NM_007035.3:c.1026delC	NP_008966.1:p.Cys343Alafs	NC_000012.11:g.91445156delG	-	C1857574 217300 Cornea plana 2
NM_007035.3(KERA):c.937C>T (p.Arg313Ter)	11081	KERA	Pathogenic	121917863	RCV000006895;	N	MedGen:C1857574,OMIM:217300	12	91445245	91445245	NM_007035.3:c.937C>T	NP_008966.1:p.Arg313Ter	NC_000012.11:g.91445245G>A	OMIM Allelic Variant:603288.0004	C1857574 217300 Cornea plana 2
NM_007035.3(KERA):c.835C>T (p.Arg279Ter)	11081	KERA	Likely pathogenic;Pathogenic	386833986	RCV000049963;	N	MedGen:C1857574,OMIM:217300	12	91449224	91449224	NM_007035.3:c.835C>T	NP_008966.1:p.Arg279Ter	NC_000012.11:g.91449224G>A	OMIM Allelic Variant:603288.0006	C1857574 217300 Cornea plana 2
NM_007035.3(KERA):c.740A>G (p.Asn247Ser)	11081	KERA	Pathogenic	121917858	RCV000006892;	N	MedGen:C1857574,OMIM:217300	12	91449319	91449319	NM_007035.3:c.740A>G	NP_008966.1:p.Asn247Ser	NC_000012.11:g.91449319T>C	OMIM Allelic Variant:603288.0001	C1857574 217300 Cornea plana 2
NM_007035.3(KERA):c.644C>A (p.Thr215Lys)	11081	KERA	Pathogenic	121917862	RCV000006894;	N	MedGen:C1857574,OMIM:217300	12	91449415	91449415	NM_007035.3:c.644C>A	NP_008966.1:p.Thr215Lys	NC_000012.11:g.91449415G>T	OMIM Allelic Variant:603288.0003	C1857574 217300 Cornea plana 2
NM_007035.3(KERA):c.520C>T (p.Gln174Ter)	11081	KERA	Pathogenic	121917860	RCV000006893;	N	MedGen:C1857574,OMIM:217300	12	91449539	91449539	NM_007035.3:c.520C>T	NP_008966.1:p.Gln174Ter	NC_000012.11:g.91449539G>A	OMIM Allelic Variant:603288.0002	C1857574 217300 Cornea plana 2
NM_007035.3(KERA):c.391A>G (p.Asn131Asp)	11081	KERA	Likely pathogenic	386833985	RCV000049962;	N	MedGen:C1857574,OMIM:217300	12	91449668	91449668	NM_007035.3:c.391A>G	NP_008966.1:p.Asn131Asp	NC_000012.11:g.91449668T>C	-	C1857574 217300 Cornea plana 2
NM_007035.3(KERA):c.320T>G (p.Ile107Arg)	11081	KERA	Pathogenic	757611751	RCV000210915;	N	MedGen:C1857574,OMIM:217300	12	91449739	91449739	NM_007035.3:c.320T>G	NP_008966.1:p.Ile107Arg	NC_000012.11:g.91449739A>C	OMIM Allelic Variant:603288.0005	C1857574 217300 Cornea plana 2