CTRCT6
MCID: CTR096
MIFTS: 44

Cataract 6, Multiple Types (CTRCT6)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Cataract 6, Multiple Types

MalaCards integrated aliases for Cataract 6, Multiple Types:

Name: Cataract 6, Multiple Types 57 72 29 13 6
Ctpp1 57 12 20 72
Cataract, Posterior Polar, 1 57 20 70
Ctrct6 57 12 72
Arcc2 57 12 72
Cataract, Age-Related Cortical, 2 57 70
Cataract 6 Multiple Types 12 15
Ctpa 20 72
Ctpp 20 72
Cataract, Age-Related Cortical, 2; Arcc2 57
Cataract, Posterior Polar, 1; Ctpp1 57
Age Related Cortical Cataract 2 12
Age-Related Cortical Cataract 2 72
Posterior Polar Cataract, 1 20
Posterior Polar Cataract 1 12
Cataract Posterior Polar 1 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
cataract 6, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110229
OMIM® 57 116600
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
MedGen 41 C1861825
UMLS 70 C1861825 C4048802

Summaries for Cataract 6, Multiple Types

UniProtKB/Swiss-Prot : 72 Cataract 6, multiple types: An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT6 includes posterior polar and age-related cortical cataracts, among others. Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. Age-related cortical cataract is a developmental punctate opacity restricted to the cortex. The cataract is white or cerulean, increases in number with age, but rarely affects vision.

MalaCards based summary : Cataract 6, Multiple Types, also known as ctpp1, is related to cataract and pulmonary embolism. An important gene associated with Cataract 6, Multiple Types is EPHA2 (EPH Receptor A2). The drugs Acetylcysteine and Respiratory System Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, cortex and lung, and related phenotypes are posterior polar cataract and myopia

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the EPHA2 gene on chromosome 1p36.

OMIM® : 57 Mutations in the EPHA2 gene have been found to cause multiple types of cataract, which have been described as posterior polar, congenital total, complete, and age-related cortical. The preferred title/symbol of this entry was formerly 'Cataract, posterior polar, 1; CTPP1,' and 'Cataract, Age-Related Cortical, 2; ARCC2' was formerly a distinct entry. (116600) (Updated 20-May-2021)

Related Diseases for Cataract 6, Multiple Types

Diseases in the Cataract family:

Cataract 32, Multiple Types Cataract 7
Cataract 8, Multiple Types Cataract 4, Multiple Types
Cataract 29 Cataract 42
Cataract 20, Multiple Types Cataract 1, Multiple Types
Cataract 30, Multiple Types Cataract 41
Cataract 6, Multiple Types Cataract 5, Multiple Types
Cataract 40 Cataract 10, Multiple Types
Cataract 24 Cataract 3, Multiple Types
Cataract 14, Multiple Types Cataract 9, Multiple Types
Cataract 2, Multiple Types Cataract 31, Multiple Types
Cataract 25 Cataract 26, Multiple Types
Cataract 27 Cataract 28
Cataract 35 Cataract 22, Multiple Types
Cataract 18 Cataract 21, Multiple Types
Cataract 23, Multiple Types Cataract 11, Multiple Types
Cataract 33, Multiple Types Cataract 17, Multiple Types
Cataract 12, Multiple Types Cataract 47
Cataract 34, Multiple Types Cataract 16, Multiple Types
Cataract 36 Cataract 37
Cataract 38 Cataract 39, Multiple Types
Cataract 15, Multiple Types Cataract 19, Multiple Types
Cataract 43 Cataract 44
Cataract 45 Cataract 48
Cataract 30 Cataract 33
Cataract Congenital Autosomal Dominant Cataract, Total Congenital

Diseases related to Cataract 6, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 50)
# Related Disease Score Top Affiliating Genes
1 cataract 30.6 TMEM114 EPHA2 CRYBB3 CRYBA1 CRYAA CHMP4B
2 pulmonary embolism 10.7
3 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis 10.2
4 pulmonary hypertension 10.2
5 chronic thromboembolic pulmonary hypertension 10.2
6 early-onset posterior subcapsular cataract 10.2 EPHA2 CHMP4B
7 cataract 44 10.2 EPHA2 CRYAA
8 galactosemia ii 10.1 TMEM114 CRYAA
9 cataract 24 10.1 CRYBB3 CRYAA
10 early-onset lamellar cataract 10.1 CRYBA1 CRYAA
11 leukocoria 10.1 CRYBA1 CRYAA
12 triosephosphate isomerase deficiency 10.1 CRYBB3 CRYAA
13 patent foramen ovale 10.0
14 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 10.0 CHMP4B CHMP4A
15 abruzzo-erickson syndrome 10.0 CRYBB3 CRYAA
16 night blindness, congenital stationary, type 2a 10.0 CRYBA1 CRYAA
17 senile cataract 10.0 EPHA2 CRYAA
18 alcohol dependence 9.9
19 immune deficiency disease 9.9
20 mycobacterium tuberculosis 1 9.9
21 combined immunodeficiency 9.9
22 severe combined immunodeficiency 9.9
23 cornea plana 9.9 PPP3CA CRYAA
24 nance-horan syndrome 9.9 CRYBB3 CRYAA
25 disuse amblyopia 9.9 CRYAA CHMP4B CHMP4A
26 axenfeld-rieger syndrome, type 3 9.9 TMEM114 CRYBA1 CRYAA
27 early-onset posterior polar cataract 9.9 EPHA2 CRYBA1 CHMP4B
28 tricuspid atresia 9.9
29 pertussis 9.9
30 hemopericardium 9.9
31 pericardial effusion 9.9
32 glanders 9.9
33 pleural disease 9.9
34 lung disease 9.9
35 bronchiectasis 9.9
36 pulmonary emphysema 9.9
37 47,xyy 9.9
38 scleral staphyloma 9.8 CRYBB3 CRYBA1 CRYAA
39 erythrokeratodermia variabilis et progressiva 1 9.8 CRYBB3 CRYBA1 CRYAA
40 lens disease 9.8 CRYBB3 CRYBA1 CRYAA
41 cataract 28 9.8 GUK1 CRYAA ARCN1
42 porencephaly 9.8 CRYBB3 CRYAA
43 posterior polar cataract 9.7 EPHA2 CRYBA1 CRYAA CHMP4B
44 early-onset nuclear cataract 9.7 EPHA2 CRYBB3 CRYBA1 CRYAA
45 cataract 31, multiple types 9.7 CRYBA1 CRYAA CHMP4B CHMP4A
46 endocardium disease 9.6 PPP3CA GUK1
47 early-onset non-syndromic cataract 9.6 EPHA2 CRYBB3 CRYBA1 CHMP4B
48 cataract 32, multiple types 9.5 TMEM114 CRYBA1 CRYAA CHMP4B CHMP4A
49 cataract 11, multiple types 9.5 TMEM114 CRYBA1 CRYAA CHMP4B CHMP4A
50 cataract 16, multiple types 9.5 TMEM114 CRYBA1 CRYAA CHMP4B CHMP4A

Graphical network of the top 20 diseases related to Cataract 6, Multiple Types:



Diseases related to Cataract 6, Multiple Types

Symptoms & Phenotypes for Cataract 6, Multiple Types

Human phenotypes related to Cataract 6, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 posterior polar cataract 31 very rare (1%) HP:0001115
2 myopia 31 HP:0000545
3 choroideremia 31 HP:0001139
4 developmental cataract 31 HP:0000519

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
myopia
choroideremia
posterior polar cataract
congenital cataract
total cataract

Clinical features from OMIM®:

116600 (Updated 20-May-2021)

Drugs & Therapeutics for Cataract 6, Multiple Types

Drugs for Cataract 6, Multiple Types (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
2 Respiratory System Agents Phase 4
3 Pharmaceutical Solutions Phase 4
4 Antioxidants Phase 4
5 Protective Agents Phase 4
6 Anti-Infective Agents Phase 4
7 Antiviral Agents Phase 4
8 Expectorants Phase 4
9 N-monoacetylcystine Phase 4
10
Iodine Approved, Investigational 7553-56-2 807
11
Cadexomer iodine Experimental 94820-09-4
12 Fibrin fragment D

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 N-acetylcysteine, Sodium Bicarbonate and Normal Saline Alone Prophylaxis for Spiral Computed Tomography Pulmonary Angiography in the Emergency Department on Suspicion of Pulmonary Emboli: A Randomized Controlled Trial Completed NCT02483143 Phase 4 NAC;NaHCO3;Normal Saline
2 Gallium68 Ventilation/Perfusion PET/CT for Pulmonary Embolism Diagnosis: a Diagnostic Accuracy Study vs CT Pulmonary Angiography Recruiting NCT04179539 Phase 2
3 IodiNe Subtraction maPpIng in the Diagnosis of chRonic Pulmonary thromboEmbolic Disease (INSPIRE): An Observational Diagnostic Study Unknown status NCT03806907
4 Identification of CTEPH on Standard Computerised Tomography Pulmonary Angiography Performed in the Work-up of Suspected Pulmonary Embolism Completed NCT03083093
5 MOdified DIagnostic strateGy to Safely ruLe-out Pulmonary Embolism In the Emergency depArtment: A Non-Inferiority Cluster Cross-over Randomized Trial Recruiting NCT04032769
6 The OPTICA Study - A Prospective Study Assessing the Quality and Safety of an Optimised CTPA Protocol in Pregnancy Recruiting NCT04179487
7 Comparison of 3 Diagnostic Strategies of Pulmonary Embolism : Planar Ventilation-perfusion Scintigraphy (Planar V/Q Scan), Computed Tomography Pulmonary Angiography (CTPA), and V/Q Single Photon Emission Computed Tomography (SPECT) Recruiting NCT02983760
8 Safety and Efficiency of the YEARS Algorithm Versus Computed Tomography Pulmonary Angiography Alone for Suspected Pulmonary Embolism in Patients With Malignancy : HYDRA Study Not yet recruiting NCT04657120

Search NIH Clinical Center for Cataract 6, Multiple Types

Genetic Tests for Cataract 6, Multiple Types

Genetic tests related to Cataract 6, Multiple Types:

# Genetic test Affiliating Genes
1 Cataract 6, Multiple Types 29 EPHA2

Anatomical Context for Cataract 6, Multiple Types

MalaCards organs/tissues related to Cataract 6, Multiple Types:

40
Eye, Cortex, Lung

Publications for Cataract 6, Multiple Types

Articles related to Cataract 6, Multiple Types:

(show all 16)
# Title Authors PMID Year
1
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract. 6 57
19306328 2009
2
The EPHA2 gene is associated with cataracts linked to chromosome 1p. 6 57
19005574 2008
3
The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes. 6 57
15965161 2005
4
A locus for autosomal dominant posterior polar cataract on chromosome 1p. 57 6
9002669 1997
5
EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS. 6
26900323 2016
6
Identification of a novel C-terminal extension mutation in EPHA2 in a family affected with congenital cataract. 6
24940039 2014
7
Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia. 6
24014202 2013
8
Human cataract mutations in EPHA2 SAM domain alter receptor stability and function. 6
22570727 2012
9
EPHA2 is associated with age-related cortical cataract in mice and humans. 57
19649315 2009
10
EphrinA1 repulsive response is regulated by an EphA2 tyrosine phosphatase. 6
16051609 2005
11
Identification of a major locus for age-related cortical cataract on chromosome 6p12-q12 in the Beaver Dam Eye Study. 57
15452352 2004
12
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. 57
15286166 2004
13
Regulation of the EphA2 kinase by the low molecular weight tyrosine phosphatase induces transformation. 6
12167657 2002
14
Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. 57
7607651 1995
15
Hereditary posterior polar cataract with report of a pedigree. 57
14389647 1955
16
Costs of life - Dynamics of the protein inventory of Staphylococcus aureus during anaerobiosis. 61
27344979 2016

Variations for Cataract 6, Multiple Types

ClinVar genetic disease variations for Cataract 6, Multiple Types:

6 (show top 50) (show all 129)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EPHA2 EPHA2, IVS16, G-A, -9 SNV Pathogenic 13261 GRCh37:
GRCh38:
2 EPHA2 EPHA2, 2-BP DEL, 2915TG Deletion Pathogenic 13260 GRCh37:
GRCh38:
3 EPHA2 NM_004431.5(EPHA2):c.2819C>T (p.Thr940Ile) SNV Pathogenic 13259 rs137853200 GRCh37: 1:16455935-16455935
GRCh38: 1:16129440-16129440
4 EPHA2 NM_004431.5(EPHA2):c.2842G>T (p.Gly948Trp) SNV Pathogenic 13258 rs137853199 GRCh37: 1:16451799-16451799
GRCh38: 1:16125304-16125304
5 EPHA2 NM_004431.5(EPHA2):c.759G>A (p.Trp253Ter) SNV Pathogenic 665755 rs1569602837 GRCh37: 1:16474937-16474937
GRCh38: 1:16148442-16148442
6 EPHA2 NM_004431.5(EPHA2):c.2826-9G>A SNV Pathogenic 280146 rs886041412 GRCh37: 1:16451824-16451824
GRCh38: 1:16125329-16125329
7 EPHA2 NM_004431.5(EPHA2):c.2913_2914TG[1] (p.Val972fs) Microsatellite Pathogenic 849920 GRCh37: 1:16451725-16451726
GRCh38: 1:16125230-16125231
8 EPHA2 NM_004431.5(EPHA2):c.1582+1G>A SNV Likely pathogenic 647226 rs1570403798 GRCh37: 1:16461530-16461530
GRCh38: 1:16135035-16135035
9 EPHA2 NM_004431.5(EPHA2):c.1046C>T (p.Thr349Met) SNV Conflicting interpretations of pathogenicity 875794 GRCh37: 1:16464614-16464614
GRCh38: 1:16138119-16138119
10 EPHA2 NM_004431.5(EPHA2):c.1720G>A (p.Val574Ile) SNV Conflicting interpretations of pathogenicity 293424 rs201325716 GRCh37: 1:16460373-16460373
GRCh38: 1:16133878-16133878
11 EPHA2 NM_004431.5(EPHA2):c.962C>T (p.Ala321Val) SNV Uncertain significance 876788 GRCh37: 1:16464787-16464787
GRCh38: 1:16138292-16138292
12 EPHA2 NM_004431.5(EPHA2):c.1697G>A (p.Arg566His) SNV Uncertain significance 876744 GRCh37: 1:16460396-16460396
GRCh38: 1:16133901-16133901
13 EPHA2 NM_004431.5(EPHA2):c.1701C>T (p.Ala567=) SNV Uncertain significance 876743 GRCh37: 1:16460392-16460392
GRCh38: 1:16133897-16133897
14 EPHA2 NM_004431.5(EPHA2):c.1040G>A (p.Arg347His) SNV Uncertain significance 581585 rs761928478 GRCh37: 1:16464620-16464620
GRCh38: 1:16138125-16138125
15 EPHA2 NM_004431.5(EPHA2):c.*273G>A SNV Uncertain significance 876693 GRCh37: 1:16451437-16451437
GRCh38: 1:16124942-16124942
16 EPHA2 NC_000001.10:g.(?_16460943)_(16482447_?)dup Duplication Uncertain significance 643721 GRCh37: 1:16460943-16482447
GRCh38: 1:16134448-16155952
17 EPHA2 NM_004431.5(EPHA2):c.2736G>T (p.Trp912Cys) SNV Uncertain significance 648046 rs903033191 GRCh37: 1:16456018-16456018
GRCh38: 1:16129523-16129523
18 EPHA2 NM_004431.5(EPHA2):c.2029C>T (p.Arg677Cys) SNV Uncertain significance 658421 rs765261745 GRCh37: 1:16459699-16459699
GRCh38: 1:16133204-16133204
19 EPHA2 NM_004431.5(EPHA2):c.205G>A (p.Val69Met) SNV Uncertain significance 638481 rs994302854 GRCh37: 1:16475491-16475491
GRCh38: 1:16148996-16148996
20 EPHA2 NM_004431.5(EPHA2):c.1210C>G (p.Pro404Ala) SNV Uncertain significance 536125 rs1181387702 GRCh37: 1:16464450-16464450
GRCh38: 1:16137955-16137955
21 EPHA2 NM_004431.5(EPHA2):c.1067G>A (p.Gly356Asp) SNV Uncertain significance 951184 GRCh37: 1:16464593-16464593
GRCh38: 1:16138098-16138098
22 EPHA2 NM_004431.5(EPHA2):c.890C>T (p.Thr297Met) SNV Uncertain significance 860395 GRCh37: 1:16464859-16464859
GRCh38: 1:16138364-16138364
23 EPHA2 NM_004431.5(EPHA2):c.1283G>A (p.Arg428His) SNV Uncertain significance 955156 GRCh37: 1:16464377-16464377
GRCh38: 1:16137882-16137882
24 EPHA2 NM_004431.5(EPHA2):c.2174C>G (p.Ala725Gly) SNV Uncertain significance 1037565 GRCh37: 1:16458710-16458710
GRCh38: 1:16132215-16132215
25 EPHA2 NM_004431.5(EPHA2):c.1583C>G (p.Ser528Cys) SNV Uncertain significance 873916 GRCh37: 1:16461062-16461062
GRCh38: 1:16134567-16134567
26 EPHA2 NM_004431.5(EPHA2):c.1572C>T (p.Phe524=) SNV Uncertain significance 873917 GRCh37: 1:16461541-16461541
GRCh38: 1:16135046-16135046
27 EPHA2 NM_004431.5(EPHA2):c.600G>C (p.Lys200Asn) SNV Uncertain significance 873975 GRCh37: 1:16475096-16475096
GRCh38: 1:16148601-16148601
28 EPHA2 NM_004431.5(EPHA2):c.524G>A (p.Arg175His) SNV Uncertain significance 873976 GRCh37: 1:16475172-16475172
GRCh38: 1:16148677-16148677
29 EPHA2 NM_004431.5(EPHA2):c.*845G>A SNV Uncertain significance 874766 GRCh37: 1:16450865-16450865
GRCh38: 1:16124370-16124370
30 EPHA2 NM_004431.5(EPHA2):c.2397C>T (p.Asp799=) SNV Uncertain significance 874812 GRCh37: 1:16458294-16458294
GRCh38: 1:16131799-16131799
31 EPHA2 NM_004431.5(EPHA2):c.2328C>A (p.Gly776=) SNV Uncertain significance 874813 GRCh37: 1:16458363-16458363
GRCh38: 1:16131868-16131868
32 EPHA2 NM_004431.5(EPHA2):c.1421G>A (p.Arg474His) SNV Uncertain significance 874862 GRCh37: 1:16462157-16462157
GRCh38: 1:16135662-16135662
33 EPHA2 NM_004431.5(EPHA2):c.1364C>T (p.Ser455Phe) SNV Uncertain significance 874863 GRCh37: 1:16462214-16462214
GRCh38: 1:16135719-16135719
34 EPHA2 NM_004431.5(EPHA2):c.441C>T (p.Pro147=) SNV Uncertain significance 874911 GRCh37: 1:16475255-16475255
GRCh38: 1:16148760-16148760
35 EPHA2 NM_004431.5(EPHA2):c.303T>C (p.Thr101=) SNV Uncertain significance 874912 GRCh37: 1:16475393-16475393
GRCh38: 1:16148898-16148898
36 EPHA2 NM_004431.5(EPHA2):c.115G>A (p.Gly39Arg) SNV Uncertain significance 874913 GRCh37: 1:16477429-16477429
GRCh38: 1:16150934-16150934
37 EPHA2 NM_004431.5(EPHA2):c.*543C>T SNV Uncertain significance 875702 GRCh37: 1:16451167-16451167
GRCh38: 1:16124672-16124672
38 EPHA2 NM_004431.5(EPHA2):c.1118C>T (p.Ser373Phe) SNV Uncertain significance 468222 rs758978165 GRCh37: 1:16464542-16464542
GRCh38: 1:16138047-16138047
39 EPHA2 NM_004431.5(EPHA2):c.1586C>T (p.Pro529Leu) SNV Uncertain significance 873915 GRCh37: 1:16461059-16461059
GRCh38: 1:16134564-16134564
40 EPHA2 NM_004431.5(EPHA2):c.*284C>T SNV Uncertain significance 293401 rs537231128 GRCh37: 1:16451426-16451426
GRCh38: 1:16124931-16124931
41 EPHA2 NM_004431.5(EPHA2):c.2697C>T (p.Ser899=) SNV Uncertain significance 873861 GRCh37: 1:16456057-16456057
GRCh38: 1:16129562-16129562
42 EPHA2 NM_004431.5(EPHA2):c.262C>T (p.Arg88Ter) SNV Uncertain significance 631573 rs143590250 GRCh37: 1:16475434-16475434
GRCh38: 1:16148939-16148939
43 EPHA2 NM_004431.5(EPHA2):c.77G>T (p.Gly26Val) SNV Uncertain significance 634591 rs1557520529 GRCh37: 1:16482351-16482351
GRCh38: 1:16155856-16155856
44 EPHA2 NM_004431.5(EPHA2):c.*625G>A SNV Uncertain significance 293394 rs886045502 GRCh37: 1:16451085-16451085
GRCh38: 1:16124590-16124590
45 EPHA2 NM_004431.5(EPHA2):c.1252G>A (p.Val418Ile) SNV Uncertain significance 293434 rs568736295 GRCh37: 1:16464408-16464408
GRCh38: 1:16137913-16137913
46 EPHA2 NM_004431.5(EPHA2):c.583C>T (p.Arg195Cys) SNV Uncertain significance 293444 rs368758045 GRCh37: 1:16475113-16475113
GRCh38: 1:16148618-16148618
47 EPHA2 NM_004431.5(EPHA2):c.*790C>T SNV Uncertain significance 293389 rs371642899 GRCh37: 1:16450920-16450920
GRCh38: 1:16124425-16124425
48 EPHA2 NM_004431.5(EPHA2):c.-81G>T SNV Uncertain significance 293451 rs748513356 GRCh37: 1:16482508-16482508
GRCh38: 1:16156013-16156013
49 EPHA2 NM_004431.5(EPHA2):c.124G>A (p.Gly42Ser) SNV Uncertain significance 293449 rs886045506 GRCh37: 1:16477420-16477420
GRCh38: 1:16150925-16150925
50 EPHA2 NM_004431.5(EPHA2):c.*624C>T SNV Uncertain significance 293395 rs886045503 GRCh37: 1:16451086-16451086
GRCh38: 1:16124591-16124591

UniProtKB/Swiss-Prot genetic disease variations for Cataract 6, Multiple Types:

72
# Symbol AA change Variation ID SNP ID
1 EPHA2 p.Thr940Ile VAR_058907 rs137853200
2 EPHA2 p.Gly948Trp VAR_058908 rs137853199
3 EPHA2 p.Arg721Gln VAR_062532 rs116506614

Expression for Cataract 6, Multiple Types

Search GEO for disease gene expression data for Cataract 6, Multiple Types.

Pathways for Cataract 6, Multiple Types

GO Terms for Cataract 6, Multiple Types

Cellular components related to Cataract 6, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multivesicular body GO:0005771 9.26 CHMP4B CHMP4A
2 membrane coat GO:0030117 9.16 CHMP4B CHMP4A
3 ESCRT III complex GO:0000815 8.96 CHMP4B CHMP4A
4 cytoplasmic side of plasma membrane GO:0009898 8.8 PPP3CA CHMP4B CHMP4A

Biological processes related to Cataract 6, Multiple Types according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 visual perception GO:0007601 9.69 CRYBB3 CRYBA1 CRYAA
2 negative regulation of protein kinase B signaling GO:0051898 9.57 EPHA2 CRYBA1
3 negative regulation of neuron death GO:1901215 9.56 CHMP4B CHMP4A
4 lens development in camera-type eye GO:0002088 9.55 CRYBB3 CRYBA1
5 mitotic metaphase plate congression GO:0007080 9.54 CHMP4B CHMP4A
6 negative regulation of cytokine production GO:0001818 9.52 EPHA2 CRYBA1
7 multivesicular body assembly GO:0036258 9.49 CHMP4B CHMP4A
8 viral life cycle GO:0019058 9.48 CHMP4B CHMP4A
9 nucleus organization GO:0006997 9.46 CHMP4B CHMP4A
10 viral budding via host ESCRT complex GO:0039702 9.43 CHMP4B CHMP4A
11 vacuolar transport GO:0007034 9.4 CHMP4B CHMP4A
12 negative regulation of autophagosome assembly GO:1902902 9.37 CHMP4B CHMP4A
13 midbody abscission GO:0061952 9.32 CHMP4B CHMP4A
14 vesicle budding from membrane GO:0006900 9.26 CHMP4B CHMP4A
15 protein polymerization GO:0051258 9.16 CHMP4B CHMP4A
16 late endosome to vacuole transport via multivesicular body sorting pathway GO:0032511 8.96 CHMP4B CHMP4A
17 posttranslational protein targeting to endoplasmic reticulum membrane GO:0006620 8.62 CHMP4B CHMP4A

Molecular functions related to Cataract 6, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 structural constituent of eye lens GO:0005212 8.8 CRYBB3 CRYBA1 CRYAA

Sources for Cataract 6, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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