CHED
MCID: CRN276
MIFTS: 46

Corneal Endothelial Dystrophy (CHED)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Corneal Endothelial Dystrophy

MalaCards integrated aliases for Corneal Endothelial Dystrophy:

Name: Corneal Endothelial Dystrophy 58 12 76 6 15
Congenital Hereditary Endothelial Dystrophy of Cornea 58 12 76 13 15
Chandler Syndrome 12 54 60 15 74
Chandler's Syndrome 12 77 54
Ched 58 12 76
Corneal Endothelial Dystrophy 2, Autosomal Recessive 76 13
Endothelial Corneal Dystrophy 12 56
Maumenee Corneal Dystrophy 60 76
Ched2 60 76
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly; Ched2, Formerly 58
Autosomal Recessive Congenital Hereditary Endothelial Dystrophy 60
Corneal Endothelial Dystrophy 2, Autosomal Recessive, Formerly 58
Corneal Dystrophy, Congenital Hereditary Endothelial 58
Corneal Endothelial Dystrophy 1, Autosomal Dominant 74
Congenital Hereditary Endothelial Dystrophy Type Ii 60
Congenital Hereditary Endothelial Corneal Dystrophy 76
Corneal Endothelial Dystrophy, Autosomal Recessive 58
Congenital Hereditary Endothelial Dystrophy Type 2 60
Infantile Hereditary Endothelial Dystrophy 60
Posterior Membrane Corneal Dystrophy 12
Iridocorneal Endothelial Syndrome 45
Dystrophy of Corneal Endothelium 12
Dystrophy, Corneal, Endothelial 41
Corneal Endothelial Dystrophy 2 74
Autosomal Recessive Ched 60
Endothelial Dystrophy 12
Ched2, Formerly 58
Chedii 60

Characteristics:

Orphanet epidemiological data:

60
congenital hereditary endothelial dystrophy type ii
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
corneal endothelial dystrophy:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 217700
ICD9CM 36 371.57
SNOMED-CT 69 16949007
ICD10 34 H18.51
ICD10 via Orphanet 35 H18.5 H21.2
UMLS via Orphanet 75 C0544008 C1096100 C1857569
MedGen 43 C1857569
SNOMED-CT via HPO 70 246957002 258211005

Summaries for Corneal Endothelial Dystrophy

NIH Rare Diseases : 54 Chandler's syndrome is a rare eye disorder in which the single layer of cells lining the interior of the cornea proliferates, causing changes within the iris, corneal swelling, and unusually high pressure in the eye (glaucoma). This condition is one of three syndromes, along with progressive iris atrophy and Cogan-Reese syndrome, that make up the iridocorneal endothelial (ICE) syndrome. In most cases, only one eye is affected. Symptoms may include reduced vision and pain. Chandler's syndrome more often affects females and usually presents sometime during middle age. The cause of this disease is unknown.

MalaCards based summary : Corneal Endothelial Dystrophy, also known as congenital hereditary endothelial dystrophy of cornea, is related to corneal dystrophy, posterior polymorphous, 1 and corneal dystrophy, posterior polymorphous, 2. An important gene associated with Corneal Endothelial Dystrophy is SLC4A11 (Solute Carrier Family 4 Member 11). The drugs Lubricant Eye Drops and Ophthalmic Solutions have been mentioned in the context of this disorder. Affiliated tissues include endothelial, eye and testes, and related phenotypes are opacification of the corneal stroma and congenital corneal dystrophy

Disease Ontology : 12 A corneal endothelial dystrophy that has material basis in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.

OMIM : 58 Corneal endothelial dystrophy is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane (summary by Vithana et al., 2006). (217700)

UniProtKB/Swiss-Prot : 76 Corneal endothelial dystrophy: A congenital corneal dystrophy characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane.

Wikipedia : 77 Iridocorneal Endothelial (ICE) syndromes are a spectrum of diseases characteriezed by slowly progressive... more...

Related Diseases for Corneal Endothelial Dystrophy

Diseases in the Corneal Endothelial Dystrophy family:

Corneal Endothelial Dystrophy Type 2

Diseases related to Corneal Endothelial Dystrophy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 corneal dystrophy, posterior polymorphous, 1 33.1 COL8A2 OVOL2 SLC4A11 TGFBI
2 corneal dystrophy, posterior polymorphous, 2 30.3 COL8A2 SLC4A11
3 corneal dystrophy, posterior polymorphous, 3 30.1 COL8A2 OVOL2 SLC4A11
4 corneal edema 30.0 COL8A2 FBXO7 SLC4A11
5 fuchs' endothelial dystrophy 29.8 COL8A2 FBXO7 SLC4A11 TGFBI
6 stromal dystrophy 29.6 CHST6 TGFBI
7 astigmatism 29.3 KRT12 KRT3
8 corneal dystrophy 28.9 CHST6 COL8A2 KRT12 KRT3 OVOL2 SLC4A11
9 corneal endothelial dystrophy type 2 12.5
10 corneal dystrophy, fuchs endothelial, 3 12.2
11 endothelial dystrophy, congenital hereditary, with nail hypoplasia 12.2
12 edict syndrome 12.0
13 corneal dystrophy, endothelial, x-linked 12.0
14 corneal dystrophy and perceptive deafness 11.9
15 corneal dystrophy, fuchs endothelial, 6 11.7
16 corneal dystrophy, fuchs endothelial, 1 11.6
17 corneal dystrophy, fuchs endothelial, 2 11.4
18 congenital hereditary endothelial dystrophy type i 11.3
19 corneal dystrophy, fuchs endothelial, 5 11.3
20 corneal dystrophy, fuchs endothelial, 8 11.3
21 corneal dystrophy, congenital stromal 11.1
22 essential iris atrophy 10.3
23 keratoconus 10.3
24 cogan-reese syndrome 10.3
25 cataract 10.2
26 melanoma 10.2
27 macular retinal edema 10.2
28 herpes simplex 10.2
29 corneal dystrophy, avellino type 10.1 CHST6 TGFBI
30 epithelial basement membrane dystrophy 10.1 COL8A2 TGFBI
31 limbal stem cell deficiency 10.1 KRT12 KRT3
32 tyrosinemia, type ii 10.0 CHST6 KRT12
33 uveitis 10.0
34 chickenpox 10.0
35 anterior uveitis 10.0
36 macular dystrophy, dominant cystoid 10.0
37 axenfeld-rieger syndrome 10.0
38 glaucomatocyclitic crisis 10.0
39 ectropion 10.0
40 epithelial-stromal tgfbi dystrophy 9.9 CHST6 KRT12 TGFBI
41 macular dystrophy, corneal 9.9 CHST6 KRT12 TGFBI
42 corneal dystrophy, gelatinous drop-like 9.9 CHST6 KRT12 TGFBI
43 corneal dystrophy, epithelial basement membrane 9.9
44 myotonic dystrophy 1 9.9
45 headache associated with sexual activity 9.9
46 keratopathy 9.9
47 bullous keratopathy 9.9
48 corneal ectasia 9.9
49 ocular hypertension 9.9
50 myotonic dystrophy 9.9

Comorbidity relations with Corneal Endothelial Dystrophy via Phenotypic Disease Network (PDN):


Bullous Keratopathy Corneal Edema

Graphical network of the top 20 diseases related to Corneal Endothelial Dystrophy:



Diseases related to Corneal Endothelial Dystrophy

Symptoms & Phenotypes for Corneal Endothelial Dystrophy

Human phenotypes related to Corneal Endothelial Dystrophy:

33
# Description HPO Frequency HPO Source Accession
1 opacification of the corneal stroma 33 HP:0007759
2 congenital corneal dystrophy 33 HP:0008005

Symptoms via clinical synopsis from OMIM:

58
Eyes:
corneal clouding
congenital corneal dystrophy

Clinical features from OMIM:

217700

MGI Mouse Phenotypes related to Corneal Endothelial Dystrophy:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 CHST6 COL8A2 KRT12 OVOL2 SLC4A11 TGFBI

Drugs & Therapeutics for Corneal Endothelial Dystrophy

Drugs for Corneal Endothelial Dystrophy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Lubricant Eye Drops Phase 2
2 Ophthalmic Solutions Phase 2,Phase 1
3 Pharmaceutical Solutions Phase 2,Phase 1,Not Applicable
4
Dipivefrin Approved Not Applicable 52365-63-6 3105
5
Ketotifen Approved 34580-14-8, 34580-13-7 3827

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 Evaluating Results of Neusidl Corneal Inserter in Descemet's Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT01357122 Phase 4
2 Ripasudil 0.4% Eye Drops in Fuchs Endothelial Corneal Dystrophy Recruiting NCT03575130 Phase 2 Ripasudil eye drops;Optive eye drops
3 Ripasudil for Enhanced Corneal Clearing Following Descemet Membrane Endothelial Keratoplasty in Fuchs' Dystrophy Recruiting NCT03813056 Phase 2 Glanatec;Optive, Ophthalmic Solution
4 A Study Investigating the Safety, Tolerability, and Efficacy of Elamipretide Topical Ophthalmic Solution for the Treatment of Fuchs' Corneal Endothelial Dystrophy (FCED) Active, not recruiting NCT02653391 Phase 1, Phase 2 Elamipretide 1.0% Ophthalmic Solution;Elamipretide 3.0% Ophthalmic Solution
5 Early Experience With Descemet's Stripping Automated Endothelial Keratoplasty Unknown status NCT00744796 Not Applicable
6 Outcome After Descemet Membrane Endothelial Keratoplasty (DMEK) and Ultra-thin Descemet Stripping Automated Endothelial Keratoplasty (DSAEK) Unknown status NCT02020044 Not Applicable
7 The Molecular Pathogenesis of Late-onset Fuchs' Endothelial Corneal Dystrophy Completed NCT01795001
8 Fuchs' Endothelial Dystrophy: Clinical Characteristics, Treatment Outcome, and Pathology Completed NCT01979250 Not Applicable
9 Study of Endothelial Keratoplasty Outcomes Completed NCT00800111 Not Applicable
10 The German Keratoplasty Registry of the German Ophthalmological Society (DOG) Completed NCT03381794
11 Assessment of Corneal Graft Attachment in Patients With Fuchs Endothelial Corneal Dystrophy Following DMEK Using Ultra-high Resolution OCT Recruiting NCT02542644 Not Applicable
12 The ADVISE Study: Advanced Visualization In Corneal Surgery Evaluation Recruiting NCT03763721 Not Applicable
13 A Study to Test the Diagnostic Potential of Brillouin Microscopy for Corneal Ectasia Recruiting NCT02118922

Search NIH Clinical Center for Corneal Endothelial Dystrophy

Cochrane evidence based reviews: iridocorneal endothelial syndrome

Genetic Tests for Corneal Endothelial Dystrophy

Anatomical Context for Corneal Endothelial Dystrophy

MalaCards organs/tissues related to Corneal Endothelial Dystrophy:

42
Endothelial, Eye, Testes

Publications for Corneal Endothelial Dystrophy

Articles related to Corneal Endothelial Dystrophy:

(show all 32)
# Title Authors Year
1
R125H, W240S, C386R, and V507I SLC4A11 mutations associated with corneal endothelial dystrophy affect the transporter function but not trafficking in PS120 cells. ( 30557570 )
2019
2
Early postoperative results of Descemet's stripping endothelial keratoplasty in six dogs with corneal endothelial dystrophy. ( 30895742 )
2019
3
Endothelial keratoplasty for corneal endothelial dystrophy in a dog. ( 30972947 )
2019
4
Phenotypic Characterization of Corneal Endothelial Dystrophy in German Shorthaired and Wirehaired Pointers Using In Vivo Advanced Corneal Imaging and Histopathology. ( 29077583 )
2018
5
Management of Interface Fluid Syndrome After LASIK by Descemet Membrane Endothelial Keratoplasty in a Patient With Fuchs' Corneal Endothelial Dystrophy. ( 28486726 )
2017
6
Corneal Endothelial Dystrophy Associated With Myotonic Dystrophy: A Report of 2 Cases. ( 28820792 )
2017
7
In Vivo Imaging of Corneal Endothelial Dystrophy in Boston Terriers: A Spontaneous, Canine Model for Fuchs' Endothelial Corneal Dystrophy. ( 27454658 )
2016
8
Descemet Stripping Automated Endothelial Keratoplasty for a Patient With Combined Fuchs Dystrophy and Corneal Ectasia-A Follow-up on Vira et al's "Descemet Stripping Endothelial Keratoplasty for Treatment of Combined Fuchs Corneal Endothelial Dystrophy and Keratoconus," Cornea 2014;33: 1-5. ( 27583801 )
2016
9
Mutations in the Corneal Endothelial Dystrophy-Associated Gene SLC4A11 Render the Cells More Vulnerable to Oxidative Insults. ( 25811729 )
2015
10
Planned Descemetorhexis Without Endothelial Keratoplasty in Eyes With Fuchs Corneal Endothelial Dystrophy. ( 26186374 )
2015
11
Descemet stripping automated endothelial keratoplasty in Fuchs' corneal endothelial dystrophy: anterior segment optical coherence tomography and in vivo confocal microscopy analysis. ( 26253099 )
2015
12
Descemet stripping endothelial keratoplasty for the treatment of combined fuchs corneal endothelial dystrophy and keratoconus. ( 24240488 )
2014
13
Cytomegalovirus associated corneal endotheliitis after penetrating keratoplasty in a patient with Fuchs corneal endothelial dystrophy. ( 22049489 )
2012
14
Familial presence of early onset Fuchs' corneal endothelial dystrophy, a report of two rare cases. ( 23866526 )
2012
15
Glaucoma in patients with corneal endothelial dystrophy. ( 21912260 )
2011
16
Novel human pathological mutations. Gene symbol: SLC4A11. Disease: Corneal endothelial dystrophy 2. ( 20108384 )
2010
17
SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria. ( 20185830 )
2010
18
SLC4A11 mutations in Fuchs endothelial corneal dystrophy. ( 18024964 )
2008
19
Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11. ( 16825429 )
2007
20
Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy. ( 17220209 )
2007
21
Unilateral corneal endothelial dystrophy and anterior keratoconus. ( 17534829 )
2007
22
Clinical study of Fuchs corneal endothelial dystrophy leading to penetrating keratoplasty: a 30-year experience. ( 16769829 )
2006
23
Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. ( 11689488 )
2001
24
Association of fuchs' corneal endothelial dystrophy with angle-closure glaucoma. ( 19920598 )
1994
25
The association of Fuch's corneal endothelial dystrophy with angle closure glaucoma. ( 1873278 )
1991
26
Bullous keratopathy due to nonguttate corneal endothelial dystrophy. ( 2261183 )
1990
27
Keratoconus associated with corneal endothelial dystrophy. ( 2078959 )
1990
28
The association of Fuchs's corneal endothelial dystrophy with axial hypermetropia, shallow anterior chamber, and angle closure glaucoma. ( 2132564 )
1990
29
Keratoconus and Fuchs' corneal endothelial dystrophy in a patient and her family. ( 2369360 )
1990
30
Corneal endothelial dystrophy. A study of 64 families. ( 309758 )
1978
31
A peculiar type of corneal endothelial dystrophy. ( 5294279 )
1965
32
THE VANISHING DISQUALIFICATION (CORNEAL ENDOTHELIAL DYSTROPHY). ( 14210290 )
1964

Variations for Corneal Endothelial Dystrophy

UniProtKB/Swiss-Prot genetic disease variations for Corneal Endothelial Dystrophy:

76 (show all 25)
# Symbol AA change Variation ID SNP ID
1 SLC4A11 p.Gly464Asp VAR_030662 rs121909389
2 SLC4A11 p.Ser489Leu VAR_030663 rs121909388
3 SLC4A11 p.Arg755Gln VAR_030664 rs121909387
4 SLC4A11 p.Arg869Cys VAR_030665 rs121909391
5 SLC4A11 p.Ala160Thr VAR_034945 rs752287261
6 SLC4A11 p.Arg804His VAR_034948 rs766567944
7 SLC4A11 p.Val824Met VAR_034949 rs757244518
8 SLC4A11 p.Thr833Met VAR_034950 rs142252617
9 SLC4A11 p.Arg869His VAR_034954 rs121909392
10 SLC4A11 p.Arg125His VAR_063713 rs127605162
11 SLC4A11 p.Ala269Val VAR_063714 rs129834714
12 SLC4A11 p.Cys386Arg VAR_063715
13 SLC4A11 p.Arg755Trp VAR_063716 rs757553189
14 SLC4A11 p.Pro773Leu VAR_063717 rs146511189
15 SLC4A11 p.Leu873Pro VAR_063718
16 SLC4A11 p.Arg209Trp VAR_064978 rs566507872
17 SLC4A11 p.Ser213Leu VAR_064979 rs759667344
18 SLC4A11 p.Arg233Cys VAR_064980 rs762942751
19 SLC4A11 p.Gly394Arg VAR_064981 rs780171125
20 SLC4A11 p.Thr401Lys VAR_064982
21 SLC4A11 p.Gly418Asp VAR_064983
22 SLC4A11 p.Leu473Arg VAR_064984
23 SLC4A11 p.Thr584Lys VAR_064985
24 SLC4A11 p.Glu143Lys VAR_067272 rs148263129
25 SLC4A11 p.Glu675Ala VAR_074015 rs749826950

ClinVar genetic disease variations for Corneal Endothelial Dystrophy:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC4A11 NM_001174089.1(SLC4A11): c.2216G> A (p.Arg739Gln) single nucleotide variant Pathogenic rs121909387 GRCh37 Chromosome 20, 3209330: 3209330
2 SLC4A11 NM_001174089.1(SLC4A11): c.2216G> A (p.Arg739Gln) single nucleotide variant Pathogenic rs121909387 GRCh38 Chromosome 20, 3228684: 3228684
3 SLC4A11 NM_001174089.1(SLC4A11): c.1418C> T (p.Ser473Leu) single nucleotide variant Pathogenic rs121909388 GRCh37 Chromosome 20, 3210904: 3210904
4 SLC4A11 NM_001174089.1(SLC4A11): c.1418C> T (p.Ser473Leu) single nucleotide variant Pathogenic rs121909388 GRCh38 Chromosome 20, 3230258: 3230258
5 SLC4A11 NM_001174089.1(SLC4A11): c.1343G> A (p.Gly448Asp) single nucleotide variant Pathogenic rs121909389 GRCh37 Chromosome 20, 3211233: 3211233
6 SLC4A11 NM_001174089.1(SLC4A11): c.1343G> A (p.Gly448Asp) single nucleotide variant Pathogenic rs121909389 GRCh38 Chromosome 20, 3230587: 3230587
7 SLC4A11 NM_001174089.1(SLC4A11): c.1765C> T (p.Arg589Ter) single nucleotide variant Pathogenic rs121909390 GRCh37 Chromosome 20, 3210076: 3210076
8 SLC4A11 NM_001174089.1(SLC4A11): c.1765C> T (p.Arg589Ter) single nucleotide variant Pathogenic rs121909390 GRCh38 Chromosome 20, 3229430: 3229430
9 SLC4A11 NM_032034.3(SLC4A11): c.353_356delAGAA (p.Lys118Thrfs) deletion Pathogenic rs869320720 GRCh38 Chromosome 20, 3234298: 3234301
10 SLC4A11 NM_032034.3(SLC4A11): c.353_356delAGAA (p.Lys118Thrfs) deletion Pathogenic rs869320720 GRCh37 Chromosome 20, 3214944: 3214947
11 SLC4A11 NM_001174089.1(SLC4A11): c.2557C> T (p.Arg853Cys) single nucleotide variant Pathogenic rs121909391 GRCh37 Chromosome 20, 3208906: 3208906
12 SLC4A11 NM_001174089.1(SLC4A11): c.2557C> T (p.Arg853Cys) single nucleotide variant Pathogenic rs121909391 GRCh38 Chromosome 20, 3228260: 3228260
13 SLC4A11 NM_001174089.1(SLC4A11): c.2019-16_2019-6delinsGGCCGGCCGG indel Pathogenic rs869320617 GRCh37 Chromosome 20, 3209663: 3209673
14 SLC4A11 NM_001174089.1(SLC4A11): c.2019-16_2019-6delinsGGCCGGCCGG indel Pathogenic rs869320617 GRCh38 Chromosome 20, 3229017: 3229027
15 SLC4A11 NM_001174089.1(SLC4A11): c.2558G> A (p.Arg853His) single nucleotide variant Pathogenic rs121909392 GRCh37 Chromosome 20, 3208905: 3208905
16 SLC4A11 NM_001174089.1(SLC4A11): c.2558G> A (p.Arg853His) single nucleotide variant Pathogenic rs121909392 GRCh38 Chromosome 20, 3228259: 3228259
17 SLC4A11 NM_001174089.1(SLC4A11): c.425_433delGCTTCGCCAinsC (p.Arg142Profs) indel Pathogenic rs797045107 GRCh38 Chromosome 20, 3234173: 3234181
18 SLC4A11 NM_001174089.1(SLC4A11): c.425_433delGCTTCGCCAinsC (p.Arg142Profs) indel Pathogenic rs797045107 GRCh37 Chromosome 20, 3214819: 3214827
19 SLC4A11 NM_032034.3(SLC4A11): c.478G> A (p.Ala160Thr) single nucleotide variant Uncertain significance rs752287261 GRCh38 Chromosome 20, 3234176: 3234176
20 SLC4A11 NM_032034.3(SLC4A11): c.478G> A (p.Ala160Thr) single nucleotide variant Uncertain significance rs752287261 GRCh37 Chromosome 20, 3214822: 3214822

Expression for Corneal Endothelial Dystrophy

Search GEO for disease gene expression data for Corneal Endothelial Dystrophy.

Pathways for Corneal Endothelial Dystrophy

GO Terms for Corneal Endothelial Dystrophy

Cellular components related to Corneal Endothelial Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cyclin-dependent protein kinase holoenzyme complex GO:0000307 9.16 CDK12 CDK13
2 cyclin/CDK positive transcription elongation factor complex GO:0008024 8.96 CDK12 CDK13
3 nuclear cyclin-dependent protein kinase holoenzyme complex GO:0019908 8.62 CDK12 CDK13

Biological processes related to Corneal Endothelial Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 angiogenesis GO:0001525 9.43 COL8A2 OVOL2 TGFBI
2 positive regulation of transcription elongation from RNA polymerase II promoter GO:0032968 9.16 CDK12 CDK13
3 negative regulation of stem cell differentiation GO:2000737 8.96 CDK12 CDK13
4 phosphorylation of RNA polymerase II C-terminal domain GO:0070816 8.62 CDK12 CDK13

Molecular functions related to Corneal Endothelial Dystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cyclin-dependent protein serine/threonine kinase activity GO:0004693 9.16 CDK12 CDK13
2 cyclin binding GO:0030332 8.96 CDK12 CDK13
3 RNA polymerase II CTD heptapeptide repeat kinase activity GO:0008353 8.62 CDK12 CDK13

Sources for Corneal Endothelial Dystrophy

3 CDC
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11 DGIdb
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20 FMA
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63 PubMed
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75 UMLS via Orphanet
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