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Hello! Guest! Please Login or Register! Clinician Mode

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: Keratoconus (D007640)
..Starting node ..Keratoconus 1 (C563649)
Child Nodes:
Sister Nodes:
..Keratoconus 1 (C563649)
..Keratoconus 2 (C563827)
..Keratoconus 3 (C563900)
..Keratoconus 4 (C563752)
..Keratoconus And Congenital Hip Dysplasia (C565456)
..Keratoconus posticus circumscriptus (C536151)
..Keratoconus Posticus Circumscriptus with Associated Malformations (C565455)
..Mental retardation, keratoconus, febrile seizures, and sinoatrial block (C537452)
..Noninflammatory corneal thinning (C531720)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6055

Name:

Keratoconus 1

Definition:

Alternative IDs:

OMIM:148300

ParentIDs:

MESH:D007640

TreeNumbers:

C11.204.627/C563649

Synonyms:

KTCN1

Slim Mappings:

Eye disease

Reference:

MedGen: C563649
MeSH: C563649
OMIM: 148300;

Genes: VSX1;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0011462	Young adult onset
3	HP:0000483	Astigmatism
4	HP:0001425	Heterogeneous
5	HP:0000563	Keratoconus

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_014588.5(VSX1):c.496C>T (p.Arg166Trp)	30813	VSX1	Pathogenic	74315432	RCV000005559;	N	MedGen:C1835677,OMIM:148300	20	25060079	25060079	NM_014588.5:c.496C>T	NP_055403.2:p.Arg166Trp	NC_000020.10:g.25060079G>A	OMIM Allelic Variant:605020.0001	C1835677 148300 Keratoconus 1
NM_014588.5(VSX1):c.479G>A (p.Gly160Asp)	30813	VSX1	Pathogenic;Uncertain significance	74315433	RCV000024251; RCV000005560;	N	MedGen:C0339284,OMIM:122000,SNOMED CT:29504002; MedGen:C1835677,OMIM:148300	20	25060096	25060096	NM_014588.5:c.479G>A	NP_055403.2:p.Gly160Asp	NC_000020.10:g.25060096C>T	OMIM Allelic Variant:605020.0002	C1835677 148300 Keratoconus 1; C0339284 122000 Polymorphous corneal dystrophy
NM_014588.5(VSX1):c.475T>A (p.Leu159Met)	30813	VSX1	Uncertain significance	74315434	RCV000005561;	N	MedGen:C1835677,OMIM:148300	20	25060100	25060100	NM_014588.5:c.475T>A	NP_055403.2:p.Leu159Met	NC_000020.10:g.25060100A>T	OMIM Allelic Variant:605020.0003	C1835677 148300 Keratoconus 1
NM_014588.5(VSX1):c.50T>C (p.Leu17Pro)	30813	VSX1	Pathogenic	74315436	RCV000005563;	N	MedGen:C1835677,OMIM:148300	20	25062683	25062683	NM_014588.5:c.50T>C	NP_055403.2:p.Leu17Pro	NC_000020.10:g.25062683A>G	OMIM Allelic Variant:605020.0005	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.77G>C (p.Ser26Thr)	84627	ZNF469	Pathogenic	273585616	RCV000114787;	N	MedGen:C1835677,OMIM:148300	16	88493955	88493955	NM_001127464.2:c.77G>C	NP_001120936.2:p.Ser26Thr	NC_000016.9:g.88493955G>C	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.99G>A (p.Pro33=)	84627	ZNF469	Likely pathogenic	273585631	RCV000114792;	N	MedGen:C1835677,OMIM:148300	16	88493977	88493977	NM_001127464.2:c.99G>A	NP_001120936.2:p.Pro33=	NC_000016.9:g.88493977G>A	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.290C>T (p.Pro97Leu)	84627	ZNF469	Pathogenic	273585617	RCV000114779;	N	MedGen:C1835677,OMIM:148300	16	88494168	88494168	NM_001127464.2:c.290C>T	NP_001120936.2:p.Pro97Leu	NC_000016.9:g.88494168C>T	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.337G>A (p.Glu113Lys)	84627	ZNF469	Pathogenic	281865144	RCV000114798;	N	MedGen:C1835677,OMIM:148300	16	88494215	88494215	NM_001127464.2:c.337G>A	NP_001120936.2:p.Glu113Lys	NC_000016.9:g.88494215G>A	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.720G>A (p.Glu240=)	84627	ZNF469	Likely pathogenic	273585632	RCV000114786;	N	MedGen:C1835677,OMIM:148300	16	88494598	88494598	NM_001127464.2:c.720G>A	NP_001120936.2:p.Glu240=	NC_000016.9:g.88494598G>A	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.1020C>T (p.Gly340=)	84627	ZNF469	Benign	273585633	RCV000114771;	N	MedGen:C1835677,OMIM:148300	16	88494898	88494898	NM_001127464.2:c.1020C>T	NP_001120936.2:p.Gly340=	NC_000016.9:g.88494898C>T	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.1627G>A (p.Gly543Ser)	84627	ZNF469	Benign	281865145	RCV000114793;	N	MedGen:C1835677,OMIM:148300	16	88495505	88495505	NM_001127464.2:c.1627G>A	NP_001120936.2:p.Gly543Ser	NC_000016.9:g.88495505G>A	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.2063C>A (p.Thr688Asn)	84627	ZNF469	Pathogenic	281865146	RCV000114794;	N	MedGen:C1835677,OMIM:148300	16	88495941	88495941	NM_001127464.2:c.2063C>A	NP_001120936.2:p.Thr688Asn	NC_000016.9:g.88495941C>A	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.2478G>T (p.Pro826=)	84627	ZNF469	Likely pathogenic	273585634	RCV000114776;	N	MedGen:C1835677,OMIM:148300	16	88496356	88496356	NM_001127464.2:c.2478G>T	NP_001120936.2:p.Pro826=	NC_000016.9:g.88496356G>T	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.2643C>G (p.Ser881=)	84627	ZNF469	Benign	273585635	RCV000114777;	N	MedGen:C1835677,OMIM:148300	16	88496521	88496521	NM_001127464.2:c.2643C>G	NP_001120936.2:p.Ser881=	NC_000016.9:g.88496521C>G	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.2699C>T (p.Pro900Leu)	84627	ZNF469	Pathogenic	273585618	RCV000114778;	N	MedGen:C1835677,OMIM:148300	16	88496577	88496577	NM_001127464.2:c.2699C>T	NP_001120936.2:p.Pro900Leu	NC_000016.9:g.88496577C>G,NC_000016.9:g.88496577C>T	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.2699C>G (p.Pro900Arg)	84627	ZNF469	Pathogenic	273585618	RCV000114795;	N	MedGen:C1835677,OMIM:148300	16	88496577	88496577	NM_001127464.2:c.2699C>G	NP_001120936.2:p.Pro900Arg	NC_000016.9:g.88496577C>G,NC_000016.9:g.88496577C>T	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.2904_2909delGTCGGG (p.Ser969_Gly970del)	84627	ZNF469	Pathogenic	281865147	RCV000114796;	N	MedGen:C1835677,OMIM:148300	16	88496782	88496787	NM_001127464.2:c.2904_2909delGTCGGG	NP_001120936.2:p.Ser969_Gly970del	NC_000016.9:g.88496782_88496787delGTCGGG	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.3119A>C (p.Lys1040Thr)	84627	ZNF469	Pathogenic	273585619	RCV000114780;	N	MedGen:C1835677,OMIM:148300	16	88496997	88496997	NM_001127464.2:c.3119A>C	NP_001120936.2:p.Lys1040Thr	NC_000016.9:g.88496997A>C	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.3236G>A (p.Arg1079Gln)	84627	ZNF469	Benign	281865148	RCV000114797;	N	MedGen:C1835677,OMIM:148300	16	88497198	88497198	NM_001127464.2:c.3236G>A	NP_001120936.2:p.Arg1079Gln	NC_000016.9:g.88497198G>A	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.4363G>T (p.Ala1455Ser)	84627	ZNF469	Pathogenic	273585620	RCV000114781;	N	MedGen:C1835677,OMIM:148300	16	88498325	88498325	NM_001127464.2:c.4363G>T	NP_001120936.2:p.Ala1455Ser	NC_000016.9:g.88498325G>T	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.4826G>C (p.Arg1609Pro)	84627	ZNF469	Benign	273585621	RCV000114782;	N	MedGen:C1835677,OMIM:148300	16	88498788	88498788	NM_001127464.2:c.4826G>C	NP_001120936.2:p.Arg1609Pro	NC_000016.9:g.88498788G>C	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.5060G>A (p.Arg1687Lys)	84627	ZNF469	Likely pathogenic	281865149	RCV000114799;	N	MedGen:C1835677,OMIM:148300	16	88499022	88499022	NM_001127464.2:c.5060G>A	NP_001120936.2:p.Arg1687Lys	NC_000016.9:g.88499022G>A	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.5597A>T (p.Gln1866Leu)	84627	ZNF469	Pathogenic	281865150	RCV000114800;	N	MedGen:C1835677,OMIM:148300	16	88499559	88499559	NM_001127464.2:c.5597A>T	NP_001120936.2:p.Gln1866Leu	NC_000016.9:g.88499559A>T	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.6007G>A (p.Glu2003Lys)	84627	ZNF469	Benign	273585622	RCV000114783;	N	MedGen:C1835677,OMIM:148300	16	88499969	88499969	NM_001127464.2:c.6007G>A	NP_001120936.2:p.Glu2003Lys	NC_000016.9:g.88499969G>A	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.6095C>A (p.Ser2032Tyr)	84627	ZNF469	Pathogenic	273585623	RCV000114784;	N	MedGen:C1835677,OMIM:148300	16	88500057	88500057	NM_001127464.2:c.6095C>A	NP_001120936.2:p.Ser2032Tyr	NC_000016.9:g.88500057C>A	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.6725C>A (p.Ser2242Tyr)	84627	ZNF469	Pathogenic	273585624	RCV000114785;	N	MedGen:C1835677,OMIM:148300	16	88500687	88500687	NM_001127464.2:c.6725C>A	NP_001120936.2:p.Ser2242Tyr	NC_000016.9:g.88500687C>A	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.7747G>A (p.Glu2583Lys)	84627	ZNF469	Likely pathogenic	281865151	RCV000114801;	N	MedGen:C1835677,OMIM:148300	16	88501709	88501709	NM_001127464.2:c.7747G>A	NP_001120936.2:p.Glu2583Lys	NC_000016.9:g.88501709G>A	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.7847G>A (p.Arg2616Gln)	84627	ZNF469	Likely pathogenic	281865152	RCV000114802;	N	MedGen:C1835677,OMIM:148300	16	88501809	88501809	NM_001127464.2:c.7847G>A	NP_001120936.2:p.Arg2616Gln	NC_000016.9:g.88501809G>A	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.8912G>T (p.Gly2971Val)	84627	ZNF469	Pathogenic	273585625	RCV000114788;	N	MedGen:C1835677,OMIM:148300	16	88502874	88502874	NM_001127464.2:c.8912G>T	NP_001120936.2:p.Gly2971Val	NC_000016.9:g.88502874G>T	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.9011_9025delTTCCCGGGAACACCC (p.Leu3004_Thr3008del)	84627	ZNF469	Pathogenic	281865162	RCV000114803;	N	MedGen:C1835677,OMIM:148300	16	88502973	88502987	NM_001127464.2:c.9011_9025delTTCCCGGGAACACCC	NP_001120936.2:p.Leu3004_Thr3008del	NC_000016.9:g.88502973_88502987delTTCCCGGGAACACCC	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.9047C>T (p.Thr3016Met)	84627	ZNF469	Pathogenic	273585626	RCV000114789;	N	MedGen:C1835677,OMIM:148300	16	88503009	88503009	NM_001127464.2:c.9047C>T	NP_001120936.2:p.Thr3016Met	NC_000016.9:g.88503009C>T	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.9471C>G (p.Ala3157=)	84627	ZNF469	Benign	273585636	RCV000114790;	N	MedGen:C1835677,OMIM:148300	16	88503433	88503433	NM_001127464.2:c.9471C>G	NP_001120936.2:p.Ala3157=	NC_000016.9:g.88503433C>G	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.9835A>G (p.Thr3279Ala)	84627	ZNF469	Likely pathogenic	273585627	RCV000114791;	N	MedGen:C1835677,OMIM:148300	16	88503797	88503797	NM_001127464.2:c.9835A>G	NP_001120936.2:p.Thr3279Ala	NC_000016.9:g.88503797A>G	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.10489G>A (p.Glu3497Lys)	84627	ZNF469	Benign	273585628	RCV000114772;	N	MedGen:C1835677,OMIM:148300	16	88504451	88504451	NM_001127464.2:c.10489G>A	NP_001120936.2:p.Glu3497Lys	NC_000016.9:g.88504451G>A	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.10843C>T (p.Leu3615=)	84627	ZNF469	Likely pathogenic	273585637	RCV000114773;	N	MedGen:C1835677,OMIM:148300	16	88504805	88504805	NM_001127464.2:c.10843C>T	NP_001120936.2:p.Leu3615=	NC_000016.9:g.88504805C>T	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.11101G>A (p.Gly3701Ser)	84627	ZNF469	Pathogenic	273585629	RCV000114774;	N	MedGen:C1835677,OMIM:148300	16	88505063	88505063	NM_001127464.2:c.11101G>A	NP_001120936.2:p.Gly3701Ser	NC_000016.9:g.88505063G>A	-	C1835677 148300 Keratoconus 1
NM_001127464.2(ZNF469):c.11615C>T (p.Pro3872Leu)	84627	ZNF469	Pathogenic	273585630	RCV000114775;	N	MedGen:C1835677,OMIM:148300	16	88505577	88505577	NM_001127464.2:c.11615C>T	NP_001120936.2:p.Pro3872Leu	NC_000016.9:g.88505577C>T	-	C1835677 148300 Keratoconus 1