Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
News and Views Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
CTRCT1
MCID: CTR098
MIFTS: 39

Cataract 1, Multiple Types (CTRCT1)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Cataract 1, Multiple Types

About this section

MalaCards integrated aliases for Cataract 1, Multiple Types:

Name: Cataract 1, Multiple Types 57 72 13
Cataract 1, Multiple Types, with or Without Microcornea 57 12 72
Ctrct1 57 12 72
Czp1 57 12 72
Pulverulent Zonular Cataract 72 54
Cataract 1 Multiple Types 12 15
Cataract, Duffy-Linked 57 6
Cae1 12 72
Cataract, Zonular Pulverulent, 1; Czp1; Czp; Cae1 57
Zonular Nuclear Pulverulent Cataract 72
Cataract, Zonular Pulverulent, 1 57
Cataract, Zonular Pulverulent 1 70
Zonular Pulverulent Cataract 1 12
Cataract Zonular Pulverulent 1 72
Cataract Microcornea Syndrome 70
Cataract-Microcornea Syndrome 72
Zonular Pulverulent Cataract 6
Duffy Linked Cataract 12
Cataract Duffy-Linked 72
Ccmc 72
Cznp 72
Czp 72

Characteristics:

OMIM®:

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


HPO:

31
cataract 1, multiple types:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases Nephrological diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:0110231
OMIM® 57 116200
OMIM Phenotypic Series 57 PS116200
MeSH 44 D002386
ICD10 32 Q12.0
MedGen 41 C1861828
UMLS 70 C1861828 C1861829
Sources

Summaries for Cataract 1, Multiple Types

About this section
UniProtKB/Swiss-Prot : 72 Cataract 1, 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. CTRCT1 includes congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, nuclear total, total, and posterior subcapsular types of cataract. Zonular or lamellar cataracts are opacities, broad or narrow, usually consisting of powdery white dots affecting only certain layers or zones between the cortex and nucleus of an otherwise clear lens. The opacity may be so dense as to render the entire central region of the lens completely opaque, or so translucent that vision is hardly if at all impeded. Zonular cataracts generally do not involve the embryonic nucleus, though sometimes they involve the fetal nucleus. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes. In some cases cataract is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye.

MalaCards based summary : Cataract 1, Multiple Types, also known as cataract 1, multiple types, with or without microcornea, is related to cataract 14, multiple types and cataract microcornea syndrome. An important gene associated with Cataract 1, Multiple Types is GJA8 (Gap Junction Protein Alpha 8), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include eye and cortex, and related phenotypes are microcornea and developmental cataract

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.

OMIM® : 57 Mutations in the GJA8 gene have been found to cause several types of autosomal dominant cataract, which have been described as congenital, zonular pulverulent, nuclear progressive, nuclear pulverulent, stellate nuclear, nuclear total, total, and posterior subcapsular. Cataract associated with microcornea, sometimes called the cataract-microcornea syndrome, is also caused by mutation in the GJA8 gene. Before it was known that mutation in the GJB8 gene caused multiple types of cataract, this entry was titled 'Cataract, zonular pulverulent, 1,' with the symbols CZP1, CZP, and CAE1. (116200) (Updated 20-May-2021)

Sources

Related Diseases for Cataract 1, Multiple Types

About this section

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 1, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 cataract 14, multiple types 32.7 GJA8 GJA3 GABRG2
2 cataract microcornea syndrome 32.6 GJA8 CRYAA
3 cataract 9, multiple types 31.9 GJA8 CRYAA
4 cataract 29.9 NHS GJA8 GJA3 CRYAA
5 cataract 2, multiple types 11.4
6 macular dystrophy with central cone involvement 10.3
7 rheumatoid arthritis 10.3
8 arthritis 10.3
9 early-onset non-syndromic cataract 10.2
10 mature cataract 10.2 GJA8 CRYAA
11 cataract 30, multiple types 10.1 GJA8 GJA3
12 sclerocornea 10.1 GJA8 CRYAA
13 rapidly involuting congenital hemangioma 10.1
14 abruzzo-erickson syndrome 10.1 GJA3 CRYAA
15 oculodentodigital dysplasia 10.1 GJA8 GJA3
16 posterior polar cataract 10.1 GJA3 CRYAA
17 congenital nystagmus 10.0 GJA8 CRYAA
18 yemenite deaf-blind hypopigmentation syndrome 10.0
19 cataract 21, multiple types 10.0
20 cataract 17, multiple types 10.0
21 fibrosarcoma 10.0
22 axenfeld-rieger syndrome, type 3 10.0 GJA8 CRYAA
23 immature cataract 10.0 GJA8 GJA3 CRYAA
24 amblyopia 10.0 GJA8 GJA3 CRYAA
25 erythrokeratodermia variabilis et progressiva 1 10.0 GJA8 GJA3 CRYAA
26 lens disease 10.0 GJA8 GJA3 CRYAA
27 47,xyy 9.9
28 aniridia 1 9.9 GJA8 CRYAA
29 chagas disease 9.9
30 chronic pain 9.9
31 pik3ca-related overgrowth syndrome 9.9
32 cataract 28 9.9 NHS CRYAA
33 cataract 44 9.7 NHS GJA8 CRYAA
34 nance-horan syndrome 9.7 NHS GJA8 CRYAA
35 early-onset nuclear cataract 9.5 NHS GJA8 GJA3 CRYAA
36 microphthalmia 9.4 NHS GJA8 CRYAA

Graphical network of the top 20 diseases related to Cataract 1, Multiple Types:



Diseases related to Cataract 1, Multiple Types
Sources

Symptoms & Phenotypes for Cataract 1, Multiple Types

About this section

Human phenotypes related to Cataract 1, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 microcornea 31 occasional (7.5%) HP:0000482
2 developmental cataract 31 HP:0000519
3 posterior subcapsular cataract 31 HP:0007787
4 nuclear cataract 31 HP:0100018
5 pulverulent cataract 31 HP:0010693

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
posterior subcapsular cataract
nuclear cataract
congenital cataract
pulverulent zonular cataract
stellate nuclear cataract
more

Clinical features from OMIM®:

116200 (Updated 20-May-2021)

Sources

Drugs & Therapeutics for Cataract 1, Multiple Types

About this section

Search Clinical Trials , NIH Clinical Center for Cataract 1, Multiple Types

Sources

Genetic Tests for Cataract 1, Multiple Types

About this section
Sources

Anatomical Context for Cataract 1, Multiple Types

About this section

MalaCards organs/tissues related to Cataract 1, Multiple Types:

40
Eye, Cortex
Sources

Publications for Cataract 1, Multiple Types

About this section

Articles related to Cataract 1, Multiple Types:

(show all 36)
# Title Authors PMID Year
1
A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. 61 54 6 57
9497259 1998
2
Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. 54 6 57
11846744 2001
3
Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin. 6 57 54
10480374 1999
4
Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract. 57 6
21174522 2011
5
A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. 6 57
18006672 2008
6
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. 6 57
17724170 2007
7
Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. 57 6
16604058 2006
8
A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. 57 6
14627691 2003
9
PROBABLE LINKAGE BETWEEN A CONGENITAL CATARACT LOCUS AND THE DUFFY BLOOD GROUP LOCUS. 57 6
14059288 1963
10
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies. 6
29464339 2019
11
Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts. 6
28392901 2017
12
Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 6
26694549 2016
13
Identification of a novel GJA8 (Cx50) point mutation causes human dominant congenital cataracts. 6
24535056 2014
14
Structure-function correlation analysis of connexin50 missense mutations causing congenital cataract: electrostatic potential alteration could determine intracellular trafficking fate of mutants. 6
25003127 2014
15
Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts. 6
23555834 2013
16
Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50. 6
21228318 2011
17
The cytoplasmic accumulations of the cataract-associated mutant, Connexin50P88S, are long-lived and form in the endoplasmic reticulum. 6
19073179 2009
18
A mutation in GJA8 (p.P88Q) is associated with "balloon-like" cataract with Y-sutural opacities in a family of Indian origin. 6
18587493 2008
19
A novel mutation in GJA8 associated with jellyfish-like cataract in a family of Indian origin. 6
18334946 2008
20
Transgenic overexpression of connexin50 induces cataracts. 57
17217947 2007
21
A novel GJA8 mutation is associated with autosomal dominant lamellar pulverulent cataract: further evidence for gap junction dysfunction in human cataract. 6
16397066 2006
22
Loss of function and impaired degradation of a cataract-associated mutant connexin50. 6
12800976 2003
23
Molecular mechanism underlying a Cx50-linked congenital cataract. 6
10362609 1999
24
The genetics of cataract: our vision becomes clearer. 57
9497271 1998
25
An unusual pedigree with microcornea-cataract syndrome. 57
8558562 1995
26
Is there an X-linked form of congenital cataracts? 57
7116682 1982
27
Confirmation of genetic heterogeneity in autosomal dominant forms of congenital cataracts from linkage studies. 57
752489 1978
28
Eyes on chromosomes. 57
5489092 1970
29
Probable assignment of the Duffy blood group locus to chromosome 1 in man. 57
5246559 1968
30
Congenital cataract. 57
13530096 1957
31
Hereditary cataract in two families. 57
13292280 1955
32
About Primary Familial Lens Dysplasia. 57
21010647 1945
33
[Development of semisolid dosage form of clonazepam for oral cavity administration]. 61
20046075 2010
34
A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family. 54
16885921 2006
35
Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). 54
10746562 2000
36
Connexin46 mutations in autosomal dominant congenital cataract. 61
10205266 1999
Sources

Variations for Cataract 1, Multiple Types

About this section

ClinVar genetic disease variations for Cataract 1, Multiple Types:

6 (show top 50) (show all 98)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GJA8 NM_005267.5(GJA8):c.262C>T (p.Pro88Ser) SNV Pathogenic 8721 rs80358200 GRCh37: 1:147380344-147380344
GRCh38: 1:147908217-147908217
2 GJA8 NM_005267.5(GJA8):c.142G>A (p.Glu48Lys) SNV Pathogenic 8722 rs80358201 GRCh37: 1:147380224-147380224
GRCh38: 1:147908097-147908097
3 GJA8 NM_005267.5(GJA8):c.68G>C (p.Arg23Thr) SNV Pathogenic 8724 rs80358203 GRCh37: 1:147380150-147380150
GRCh38: 1:147908023-147908023
4 GJA8 NM_005267.5(GJA8):c.131T>A (p.Val44Glu) SNV Pathogenic 8725 rs80358204 GRCh37: 1:147380213-147380213
GRCh38: 1:147908086-147908086
5 GJA8 NM_005267.5(GJA8):c.593G>A (p.Arg198Gln) SNV Pathogenic 8726 rs80358205 GRCh37: 1:147380675-147380675
GRCh38: 1:147908548-147908548
6 GJA8 NM_005267.5(GJA8):c.139G>A (p.Asp47Asn) SNV Pathogenic 8727 rs121434643 GRCh37: 1:147380221-147380221
GRCh38: 1:147908094-147908094
7 GJA8 NM_005267.5(GJA8):c.153C>G (p.Asp51Glu) SNV Pathogenic 574353 rs1307969607 GRCh37: 1:147380235-147380235
GRCh38: 1:147908108-147908108
8 GJA8 NM_005267.5(GJA8):c.134G>T (p.Trp45Leu) SNV Pathogenic 845873 GRCh37: 1:147380216-147380216
GRCh38: 1:147908089-147908089
9 GJA8 NM_005267.5(GJA8):c.602A>G (p.Glu201Gly) SNV Pathogenic 861618 GRCh37: 1:147380684-147380684
GRCh38: 1:147908557-147908557
10 GJA8 NM_005267.5(GJA8):c.134G>C (p.Trp45Ser) SNV Pathogenic 217335 rs864309688 GRCh37: 1:147380216-147380216
GRCh38: 1:147908089-147908089
11 GJA8 NM_005267.5(GJA8):c.1159C>T (p.Gln387Ter) SNV Pathogenic 1032304 GRCh37: 1:147381241-147381241
GRCh38: 1:147909114-147909114
12 GJA8 NM_005267.5(GJA8):c.1300T>C (p.Ter434Arg) SNV Pathogenic 1032305 GRCh37: 1:147381382-147381382
GRCh38: 1:147909255-147909255
13 GJA8 NC_000001.10:g.(?_147380063)_(147381404_?)del Deletion Pathogenic 833373 GRCh37: 1:147380063-147381404
GRCh38:
14 GJA8 NM_005267.5(GJA8):c.262C>G (p.Pro88Ala) SNV Pathogenic 650108 rs80358200 GRCh37: 1:147380344-147380344
GRCh38: 1:147908217-147908217
15 GJA8 NM_005267.5(GJA8):c.827C>T (p.Ser276Phe) SNV Pathogenic 427758 rs45619342 GRCh37: 1:147380909-147380909
GRCh38: 1:147908782-147908782
16 GJA8 NM_005267.5(GJA8):c.566C>T (p.Pro189Leu) SNV Pathogenic 68465 rs397515627 GRCh37: 1:147380648-147380648
GRCh38: 1:147908521-147908521
17 GJA8 NM_005267.5(GJA8):c.196T>C (p.Tyr66His) SNV Likely pathogenic 655801 rs1571175950 GRCh37: 1:147380278-147380278
GRCh38: 1:147908151-147908151
18 GJA8 NM_005267.5(GJA8):c.197A>C (p.Tyr66Ser) SNV Likely pathogenic 850845 GRCh37: 1:147380279-147380279
GRCh38: 1:147908152-147908152
19 GJA8 NM_005267.5(GJA8):c.385G>A (p.Val129Ile) SNV Conflicting interpretations of pathogenicity 292466 rs142415337 GRCh37: 1:147380467-147380467
GRCh38: 1:147908340-147908340
20 GJA8 NM_005267.5(GJA8):c.1096G>A (p.Val366Met) SNV Uncertain significance 292472 rs782056871 GRCh37: 1:147381178-147381178
GRCh38: 1:147909051-147909051
21 GJA3 NM_021954.4(GJA3):c.*553C>T SNV Uncertain significance 311321 rs886050016 GRCh37: 13:20715567-20715567
GRCh38: 13:20141428-20141428
22 GJA3 NM_021954.4(GJA3):c.780G>A (p.Arg260=) SNV Uncertain significance 311342 rs764418101 GRCh37: 13:20716648-20716648
GRCh38: 13:20142509-20142509
23 GJA3 NM_021954.4(GJA3):c.*1565A>G SNV Uncertain significance 311305 rs886050012 GRCh37: 13:20714555-20714555
GRCh38: 13:20140416-20140416
24 GJA3 NM_021954.4(GJA3):c.*3393del Deletion Uncertain significance 311283 rs886050003 GRCh37: 13:20712727-20712727
GRCh38: 13:20138588-20138588
25 GJA8 NM_005267.5(GJA8):c.875T>C (p.Leu292Pro) SNV Uncertain significance 292468 rs886045255 GRCh37: 1:147380957-147380957
GRCh38: 1:147908830-147908830
26 GJA8 NM_005267.5(GJA8):c.1096G>A (p.Val366Met) SNV Uncertain significance 292472 rs782056871 GRCh37: 1:147381178-147381178
GRCh38: 1:147909051-147909051
27 GJA8 NM_005267.5(GJA8):c.58G>A (p.Val20Ile) SNV Uncertain significance 292462 rs782298787 GRCh37: 1:147380140-147380140
GRCh38: 1:147908013-147908013
28 GJA8 NM_005267.5(GJA8):c.183C>T (p.Cys61=) SNV Uncertain significance 292463 rs782213276 GRCh37: 1:147380265-147380265
GRCh38: 1:147908138-147908138
29 GJA8 NM_005267.5(GJA8):c.300C>T (p.Val100=) SNV Uncertain significance 292465 rs886045254 GRCh37: 1:147380382-147380382
GRCh38: 1:147908255-147908255
30 GJA8 NM_005267.5(GJA8):c.1069A>G (p.Thr357Ala) SNV Uncertain significance 292471 rs782584748 GRCh37: 1:147381151-147381151
GRCh38: 1:147909024-147909024
31 GJA8 NM_005267.5(GJA8):c.678C>A (p.His226Gln) SNV Uncertain significance 292467 rs201476382 GRCh37: 1:147380760-147380760
GRCh38: 1:147908633-147908633
32 GJA8 NM_005267.5(GJA8):c.285C>T (p.His95=) SNV Uncertain significance 292464 rs886045253 GRCh37: 1:147380367-147380367
GRCh38: 1:147908240-147908240
33 GJA8 NM_005267.5(GJA8):c.875T>C (p.Leu292Pro) SNV Uncertain significance 292468 rs886045255 GRCh37: 1:147380957-147380957
GRCh38: 1:147908830-147908830
34 GJA8 NM_005267.5(GJA8):c.58G>A (p.Val20Ile) SNV Uncertain significance 292462 rs782298787 GRCh37: 1:147380140-147380140
GRCh38: 1:147908013-147908013
35 GJA8 NM_005267.5(GJA8):c.285C>T (p.His95=) SNV Uncertain significance 292464 rs886045253 GRCh37: 1:147380367-147380367
GRCh38: 1:147908240-147908240
36 GJA8 NM_005267.5(GJA8):c.300C>T (p.Val100=) SNV Uncertain significance 292465 rs886045254 GRCh37: 1:147380382-147380382
GRCh38: 1:147908255-147908255
37 GJA8 NM_005267.5(GJA8):c.1069A>G (p.Thr357Ala) SNV Uncertain significance 292471 rs782584748 GRCh37: 1:147381151-147381151
GRCh38: 1:147909024-147909024
38 GJA8 NM_005267.5(GJA8):c.665T>C (p.Met222Thr) SNV Uncertain significance 877036 GRCh37: 1:147380747-147380747
GRCh38: 1:147908620-147908620
39 GJA8 NM_005267.5(GJA8):c.670T>C (p.Leu224=) SNV Uncertain significance 877037 GRCh37: 1:147380752-147380752
GRCh38: 1:147908625-147908625
40 GJA8 NM_005267.5(GJA8):c.197A>G (p.Tyr66Cys) SNV Uncertain significance 938578 GRCh37: 1:147380279-147380279
GRCh38: 1:147908152-147908152
41 GJA8 NM_005267.5(GJA8):c.595C>T (p.Pro199Ser) SNV Uncertain significance 1007568 GRCh37: 1:147380677-147380677
GRCh38: 1:147908550-147908550
42 GJA8 NM_005267.5(GJA8):c.994G>A (p.Glu332Lys) SNV Uncertain significance 292470 rs143688085 GRCh37: 1:147381076-147381076
GRCh38: 1:147908949-147908949
43 GJA8 NM_005267.5(GJA8):c.994G>A (p.Glu332Lys) SNV Uncertain significance 292470 rs143688085 GRCh37: 1:147381076-147381076
GRCh38: 1:147908949-147908949
44 GJA8 NM_005267.5(GJA8):c.176C>T (p.Pro59Leu) SNV Uncertain significance 842078 GRCh37: 1:147380258-147380258
GRCh38: 1:147908131-147908131
45 GJA8 NM_005267.5(GJA8):c.1016A>T (p.Glu339Val) SNV Uncertain significance 857879 GRCh37: 1:147381098-147381098
GRCh38: 1:147908971-147908971
46 GJA8 NM_005267.5(GJA8):c.163A>G (p.Asn55Asp) SNV Uncertain significance 1030900 GRCh37: 1:147380245-147380245
GRCh38: 1:147908118-147908118
47 GJA8 NM_005267.5(GJA8):c.1126G>A (p.Gly376Arg) SNV Uncertain significance 842697 GRCh37: 1:147381208-147381208
GRCh38: 1:147909081-147909081
48 GJA8 NM_005267.5(GJA8):c.201C>G (p.Asp67Glu) SNV Uncertain significance 952446 GRCh37: 1:147380283-147380283
GRCh38: 1:147908156-147908156
49 GJA8 NM_005267.5(GJA8):c.136G>A (p.Gly46Arg) SNV Uncertain significance 521584 rs1553242554 GRCh37: 1:147380218-147380218
GRCh38: 1:147908091-147908091
50 GJA8 NM_005267.5(GJA8):c.560C>T (p.Pro187Leu) SNV Uncertain significance 1062592 GRCh37: 1:147380642-147380642
GRCh38: 1:147908515-147908515

UniProtKB/Swiss-Prot genetic disease variations for Cataract 1, Multiple Types:

72
# Symbol AA change Variation ID SNP ID
1 GJA8 p.Pro88Ser VAR_002005 rs80358200
2 GJA8 p.Val64Gly VAR_037642
3 GJA8 p.Arg23Thr VAR_038797 rs80358203
4 GJA8 p.Val44Glu VAR_038798 rs80358204
5 GJA8 p.Glu48Lys VAR_038799 rs80358201
6 GJA8 p.Arg198Gln VAR_038800 rs80358205
7 GJA8 p.Asp47Asn VAR_069579 rs121434643
8 GJA8 p.Asp67Gly VAR_070021
9 GJA8 p.Arg76Cys VAR_070022

Sources

Expression for Cataract 1, Multiple Types

About this section
Search GEO for disease gene expression data for Cataract 1, Multiple Types.
Sources

Pathways for Cataract 1, Multiple Types

About this section

Pathways related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Gap junction trafficking 65
Show member pathways
 10.61 GJA8 GJA3
Sources

GO Terms for Cataract 1, Multiple Types

About this section

Cellular components related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.46 NHS GJA8 GJA3 GABRG2
2 gap junction GO:0005921 8.96 GJA8 GJA3
3 connexin complex GO:0005922 8.62 GJA8 GJA3

Biological processes related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell communication GO:0007154 9.26 GJA8 GJA3
2 lens development in camera-type eye GO:0002088 9.16 NHS GJA8
3 regulation of transcription by RNA polymerase III GO:0006359 8.96 ZNF76 ZNF143
4 gap junction-mediated intercellular transport GO:1990349 8.62 GJA8 GJA3

Molecular functions related to Cataract 1, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJA8 GJA3
Sources

Sources for Cataract 1, Multiple Types

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....