CTRCT14
MCID: CTR118
MIFTS: 41

Cataract 14, Multiple Types (CTRCT14)

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

Aliases & Classifications for Cataract 14, Multiple Types

MalaCards integrated aliases for Cataract 14, Multiple Types:

Name: Cataract 14, Multiple Types 56 73
Zonular Pulverulent Cataract 3 12 73 29 6
Ctrct14 56 12 73
Czp3 56 12 73
Cae3 56 12 73
Cataract, Zonular Pulverulent 3 56 71
Cataract 14 Multiple Types 12 15
Cataract, Zonular Pulverulent 3; Czp3 56
Cataract, Type 14, Multiple Types 39
Cataract, Zonular Pulverulent-3 13

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
congenital cataracts, sometimes requiring extraction in childhood due to impairment of vision


HPO:

31
cataract 14, multiple types:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110253
OMIM 56 601885
OMIM Phenotypic Series 56 PS116200
MeSH 43 D002386
ICD10 32 Q12.0
MedGen 41 C1866078
SNOMED-CT via HPO 68 263681008
UMLS 71 C1866078

Summaries for Cataract 14, Multiple Types

UniProtKB/Swiss-Prot : 73 Cataract 14, 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. CTRCT14 includes zonular pulverulent cataract, among others. 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. Usually sharply separated from a clear cortex outside them, they may have projections from their outer edges known as riders or spokes.

MalaCards based summary : Cataract 14, Multiple Types, also known as zonular pulverulent cataract 3, is related to cataract 1, multiple types and hereditary lymphedema ic. An important gene associated with Cataract 14, Multiple Types is GJA3 (Gap Junction Protein Alpha 3), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Bile secretion. Affiliated tissues include eye and cortex, and related phenotypes are zonular cataract and homeostasis/metabolism

Disease Ontology : 12 A cataract that has material basis in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12.

OMIM : 56 Mutations in the GJA3 gene have been found to cause multiple types of cataract, which have been described as zonular pulverulent, posterior polar, nuclear coralliform, embryonal nuclear, and Coppock-like. The preferred title/symbol for this entry was formerly 'Cataract, Zonular Pulverulent 3; CZP3.' (601885)

Related Diseases for Cataract 14, 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 14, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 cataract 1, multiple types 30.5 GJA8 GJA3 GABRG2
2 hereditary lymphedema ic 10.3 GJA8 GJA3
3 cataract 30, multiple types 10.3 GJA8 GJA3
4 early-onset nuclear cataract 10.3 GJA8 GJA3
5 early onset absence epilepsy 10.3 GJA8 GABRG2
6 epilepsy with generalized tonic-clonic seizures 10.2 GJA8 GABRG2
7 juvenile absence epilepsy 10.2 GJA8 GABRG2
8 adolescence-adult electroclinical syndrome 10.2 GJA8 GABRG2
9 electroclinical syndrome 10.2 GJA8 GABRG2
10 oculodentodigital dysplasia 10.2 GJA8 GJA3
11 rabies 10.2
12 echinococcosis 10.2
13 cataract 10.2
14 early-onset non-syndromic cataract 10.2
15 photosensitive epilepsy 10.1 GJA8 GABRG2
16 complex partial epilepsy 10.1 SLC4A5 SLC4A10
17 childhood electroclinical syndrome 10.1 GJA8 GABRG2
18 keratomalacia 10.1 SLC4A3 SLC26A1
19 hereditary elliptocytosis 9.9 SLC4A3 SLC4A2 OSGEP
20 intestinal impaction 9.9 SLC4A5 SLC4A4
21 erythrokeratodermia variabilis et progressiva 1 9.8 GJA8 GJA3
22 suppurative cholangitis 9.8 SLC4A8 SLC4A4
23 inhalation anthrax 9.8 SLC4A8 SLC4A4
24 epilepsy, idiopathic generalized 9.8 SLC4A3 SLC4A10 GJA8 GABRG2
25 adenine phosphoribosyltransferase deficiency 9.8 SLC4A8 SLC4A4
26 ring dermoid of cornea 9.7 SLC4A8 SLC4A4
27 diastrophic dysplasia 9.7 SLC26A8 SLC26A1
28 branchiootorenal syndrome 1 9.6 SLC4A5 SLC4A4
29 corneal dystrophy, band-shaped 9.5 SLC4A5 SLC4A4 SLC4A10
30 corneal dystrophy and perceptive deafness 9.5 SLC4A4 SLC4A2 SLC4A10
31 renal tubular transport disease 9.4 SLC4A4 OSGEP
32 renal tubular acidosis 9.4 SLC4A4 SLC4A2 SLC26A1

Graphical network of the top 20 diseases related to Cataract 14, Multiple Types:



Diseases related to Cataract 14, Multiple Types

Symptoms & Phenotypes for Cataract 14, Multiple Types

Human phenotypes related to Cataract 14, Multiple Types:

31
# Description HPO Frequency HPO Source Accession
1 zonular cataract 31 HP:0010920

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
cataract, zonular pulverulent
cataract, posterior polar
cataract, nuclear coralliform
cataract, embryonal nuclear
cataract, coppock-like

Clinical features from OMIM:

601885

MGI Mouse Phenotypes related to Cataract 14, Multiple Types:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.28 GABRG2 GJA8 SLC26A1 SLC4A10 SLC4A2 SLC4A3

Drugs & Therapeutics for Cataract 14, Multiple Types

Search Clinical Trials , NIH Clinical Center for Cataract 14, Multiple Types

Genetic Tests for Cataract 14, Multiple Types

Genetic tests related to Cataract 14, Multiple Types:

# Genetic test Affiliating Genes
1 Zonular Pulverulent Cataract 3 29 GJA3

Anatomical Context for Cataract 14, Multiple Types

MalaCards organs/tissues related to Cataract 14, Multiple Types:

40
Eye, Cortex

Publications for Cataract 14, Multiple Types

Articles related to Cataract 14, Multiple Types:

(show all 16)
# Title Authors PMID Year
1
Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). 56 6 61
10746562 2000
2
Connexin46 mutations in autosomal dominant congenital cataract. 56 61 6
10205266 1999
3
A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family. 56 6
22876138 2012
4
A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract. 56 6
22550389 2012
5
Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family. 6 56
22312188 2012
6
A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family. 56 6
21681855 2011
7
A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract. 56 6
15448617 2004
8
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance. 6 56
15286166 2004
9
An aberrant sequence in a connexin46 mutant underlies congenital cataracts. 6
16204255 2005
10
The genetics of cataract: our vision becomes clearer. 56
9497271 1998
11
A new locus for dominant "zonular pulverulent" cataract, on chromosome 13. 56
9199569 1997
12
Enhanced contraception of canine zona pellucida 3 DNA vaccine via targeting DEC-205 in mice. 61
29455062 2018
13
The preclinical evaluation of immunocontraceptive vaccines based on canine zona pellucida 3 (cZP3) in a mouse model. 61
29751768 2018
14
[Pleurotus ferulae polysaccharide adjuvant enhances the immune infertility of CZP3DNA vaccine]. 61
28871937 2017
15
[Canine zona pellucida 3 (CZP3) DNA vaccination reduces mouse fertility effectively]. 61
27667457 2016
16
Cognitive impairment in encephalitis: P3 and MRI correlation. 61
19280797 2009

Variations for Cataract 14, Multiple Types

ClinVar genetic disease variations for Cataract 14, Multiple Types:

6 (show top 50) (show all 123) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GJA3 NM_021954.4(GJA3):c.130G>A (p.Val44Met)SNV Pathogenic 639312 13:20717298-20717298 13:20143159-20143159
2 GJA3 NM_021954.4(GJA3):c.188A>G (p.Asn63Ser)SNV Pathogenic 16978 rs121917823 13:20717240-20717240 13:20143101-20143101
3 GJA3 NM_021954.4(GJA3):c.1137dup (p.Ser380fs)duplication Pathogenic 16979 13:20716290-20716291 13:20142151-20142152
4 GJA3 NM_021954.4(GJA3):c.560C>T (p.Pro187Leu)SNV Pathogenic 16980 rs121917825 13:20716868-20716868 13:20142729-20142729
5 GJA3 NM_021954.4(GJA3):c.227G>A (p.Arg76His)SNV Pathogenic 16981 rs121917827 13:20717201-20717201 13:20143062-20143062
6 GJA3 NM_021954.4(GJA3):c.563A>C (p.Asn188Thr)SNV Pathogenic 50941 rs140332366 13:20716865-20716865 13:20142726-20142726
7 GJA3 NM_021954.4(GJA3):c.5G>A (p.Gly2Asp)SNV Pathogenic 50942 rs397514703 13:20717423-20717423 13:20143284-20143284
8 GJA3 NM_021954.4(GJA3):c.563A>T (p.Asn188Ile)SNV Pathogenic 50943 rs140332366 13:20716865-20716865 13:20142726-20142726
9 GJA3 NM_021954.4(GJA3):c.616T>A (p.Phe206Ile)SNV Pathogenic 50944 rs397514704 13:20716812-20716812 13:20142673-20142673
10 GJA3 NM_021954.4(GJA3):c.427G>A (p.Gly143Arg)SNV Pathogenic 50945 rs398122937 13:20717001-20717001 13:20142862-20142862
11 GJA3 NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)SNV Pathogenic 217339 rs864309691 13:20717252-20717252 13:20143113-20143113
12 GJA3 NM_021954.4(GJA3):c.*3609G>ASNV Uncertain significance 311282 rs767584645 13:20712511-20712511 13:20138372-20138372
13 GJA3 NM_021954.4(GJA3):c.*3099C>ASNV Uncertain significance 311289 rs886050007 13:20713021-20713021 13:20138882-20138882
14 GJA3 NM_021954.4(GJA3):c.*2923A>GSNV Uncertain significance 311290 rs886050008 13:20713197-20713197 13:20139058-20139058
15 GJA3 NM_021954.4(GJA3):c.*1232T>CSNV Uncertain significance 311310 rs886050013 13:20714888-20714888 13:20140749-20140749
16 GJA3 NM_021954.4(GJA3):c.*3108C>TSNV Uncertain significance 311288 rs886050006 13:20713012-20713012 13:20138873-20138873
17 GJA3 NM_021954.4(GJA3):c.*1841C>TSNV Uncertain significance 311304 rs886050011 13:20714279-20714279 13:20140140-20140140
18 GJA3 NM_021954.4(GJA3):c.949G>C (p.Gly317Arg)SNV Uncertain significance 311338 rs377190812 13:20716479-20716479 13:20142340-20142340
19 GJA3 NM_021954.4(GJA3):c.862C>T (p.Pro288Ser)SNV Uncertain significance 311340 rs886050022 13:20716566-20716566 13:20142427-20142427
20 GJA3 NM_021954.4(GJA3):c.720G>A (p.Pro240=)SNV Uncertain significance 311343 rs746223535 13:20716708-20716708 13:20142569-20142569
21 GJA3 NM_021954.4(GJA3):c.*101G>ASNV Uncertain significance 311330 rs886050019 13:20716019-20716019 13:20141880-20141880
22 GJA3 NM_021954.4(GJA3):c.*3389G>ASNV Uncertain significance 311284 rs886050004 13:20712731-20712731 13:20138592-20138592
23 GJA3 NM_021954.4(GJA3):c.*3182T>GSNV Uncertain significance 311286 rs886050005 13:20712938-20712938 13:20138799-20138799
24 GJA3 NC_000013.11:g.(?_20141961)_(20824841_?)deldeletion Uncertain significance 830569 13:20716100-21398980
25 GJA3 NM_021954.4(GJA3):c.439C>T (p.Arg147Trp)SNV Uncertain significance 859303 13:20716989-20716989 13:20142850-20142850
26 GJA3 NM_021954.4(GJA3):c.*3509C>GSNV Uncertain significance 880652 13:20712611-20712611 13:20138472-20138472
27 GJA3 NM_021954.4(GJA3):c.*3210A>GSNV Uncertain significance 882067 13:20712910-20712910 13:20138771-20138771
28 GJA3 NM_021954.4(GJA3):c.*2931A>GSNV Uncertain significance 882068 13:20713189-20713189 13:20139050-20139050
29 GJA3 NM_021954.4(GJA3):c.*2695C>TSNV Uncertain significance 883216 13:20713425-20713425 13:20139286-20139286
30 GJA3 NM_021954.4(GJA3):c.*2363A>GSNV Uncertain significance 884006 13:20713757-20713757 13:20139618-20139618
31 GJA3 NM_021954.4(GJA3):c.*2340A>GSNV Uncertain significance 884007 13:20713780-20713780 13:20139641-20139641
32 GJA3 NM_021954.4(GJA3):c.*2107T>ASNV Uncertain significance 884008 13:20714013-20714013 13:20139874-20139874
33 GJA3 NM_021954.4(GJA3):c.*2093A>CSNV Uncertain significance 884009 13:20714027-20714027 13:20139888-20139888
34 GJA3 NM_021954.4(GJA3):c.*2086G>TSNV Uncertain significance 884010 13:20714034-20714034 13:20139895-20139895
35 GJA3 NM_021954.4(GJA3):c.*1965C>TSNV Uncertain significance 880720 13:20714155-20714155 13:20140016-20140016
36 GJA3 NM_021954.4(GJA3):c.*1941C>GSNV Uncertain significance 880722 13:20714179-20714179 13:20140040-20140040
37 GJA3 NM_021954.4(GJA3):c.*1931G>CSNV Uncertain significance 880723 13:20714189-20714189 13:20140050-20140050
38 GJA3 NM_021954.4(GJA3):c.*1760G>ASNV Uncertain significance 880724 13:20714360-20714360 13:20140221-20140221
39 GJA3 NM_021954.4(GJA3):c.*1535C>TSNV Uncertain significance 882120 13:20714585-20714585 13:20140446-20140446
40 GJA3 NM_021954.4(GJA3):c.*1495G>CSNV Uncertain significance 882121 13:20714625-20714625 13:20140486-20140486
41 GJA3 NM_021954.4(GJA3):c.*1365G>ASNV Uncertain significance 882122 13:20714755-20714755 13:20140616-20140616
42 GJA3 NM_021954.4(GJA3):c.*740G>CSNV Uncertain significance 883267 13:20715380-20715380 13:20141241-20141241
43 GJA3 NM_021954.4(GJA3):c.*532A>GSNV Uncertain significance 884076 13:20715588-20715588 13:20141449-20141449
44 GJA3 NM_021954.4(GJA3):c.*201G>CSNV Uncertain significance 880788 13:20715919-20715919 13:20141780-20141780
45 GJA3 NM_021954.4(GJA3):c.1276G>A (p.Gly426Arg)SNV Uncertain significance 880789 13:20716152-20716152 13:20142013-20142013
46 GJA3 NM_021954.4(GJA3):c.1256A>G (p.Lys419Arg)SNV Uncertain significance 880790 13:20716172-20716172 13:20142033-20142033
47 GJA3 NM_021954.4(GJA3):c.1240C>G (p.Pro414Ala)SNV Uncertain significance 882179 13:20716188-20716188 13:20142049-20142049
48 GJA3 NM_021954.4(GJA3):c.1169C>A (p.Thr390Asn)SNV Uncertain significance 882180 13:20716259-20716259 13:20142120-20142120
49 GJA3 NM_021954.4(GJA3):c.1136G>A (p.Gly379Asp)SNV Uncertain significance 882181 13:20716292-20716292 13:20142153-20142153
50 GJA3 NM_021954.4(GJA3):c.1089G>A (p.Ala363=)SNV Uncertain significance 882182 13:20716339-20716339 13:20142200-20142200

UniProtKB/Swiss-Prot genetic disease variations for Cataract 14, Multiple Types:

73 (show all 19)
# Symbol AA change Variation ID SNP ID
1 GJA3 p.Asn63Ser VAR_009158 rs121917823
2 GJA3 p.Pro187Leu VAR_023447 rs121917825
3 GJA3 p.Phe32Leu VAR_030021
4 GJA3 p.Pro59Leu VAR_030022 rs864309691
5 GJA3 p.Arg76His VAR_030023 rs121917827
6 GJA3 p.Trp45Ser VAR_038796
7 GJA3 p.Gly2Asp VAR_066710 rs397514703
8 GJA3 p.Asp3Tyr VAR_066711
9 GJA3 p.Val28Met VAR_066712 rs155533953
10 GJA3 p.Arg33Leu VAR_066713
11 GJA3 p.Val44Met VAR_066714
12 GJA3 p.Asp47Asn VAR_066715
13 GJA3 p.Arg76Gly VAR_066716
14 GJA3 p.Thr87Met VAR_066717 rs864309687
15 GJA3 p.Pro187Ser VAR_066718
16 GJA3 p.Asn188Thr VAR_066719 rs140332366
17 GJA3 p.Gly143Glu VAR_072762
18 GJA3 p.Asn188Ile VAR_072763 rs140332366
19 GJA3 p.Glu48Gly VAR_075211

Expression for Cataract 14, Multiple Types

Search GEO for disease gene expression data for Cataract 14, Multiple Types.

Pathways for Cataract 14, Multiple Types

GO Terms for Cataract 14, Multiple Types

Cellular components related to Cataract 14, Multiple Types according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.15 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
2 integral component of plasma membrane GO:0005887 9.8 SLC4A4 SLC4A3 SLC26A8 SLC26A1 GJA8 GJA3
3 integral component of membrane GO:0016021 9.73 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
4 cell GO:0005623 9.7 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
5 basolateral plasma membrane GO:0016323 9.62 SLC4A4 SLC4A2 SLC4A10 SLC26A1
6 plasma membrane GO:0005886 9.44 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
7 gap junction GO:0005921 9.43 GJA8 GJA3
8 connexin complex GO:0005922 9.4 GJA8 GJA3

Biological processes related to Cataract 14, Multiple Types according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.07 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
2 transmembrane transport GO:0055085 10.01 SLC4A9 SLC4A4 SLC4A3 SLC4A2 SLC26A8 SLC26A1
3 sodium ion transmembrane transport GO:0035725 9.83 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A10
4 sodium ion transport GO:0006814 9.8 SLC4A8 SLC4A5 SLC4A4 SLC4A10
5 inorganic anion transport GO:0015698 9.8 SLC4A9 SLC4A5 SLC4A4 SLC4A3 SLC4A2 SLC4A10
6 regulation of intracellular pH GO:0051453 9.8 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
7 chloride transmembrane transport GO:1902476 9.78 SLC4A8 SLC26A8 SLC26A1 GABRG2
8 chloride transport GO:0006821 9.76 SLC4A10 SLC26A8 SLC26A1 GABRG2
9 anion transmembrane transport GO:0098656 9.76 SLC4A9 SLC4A5 SLC4A4 SLC4A3 SLC4A2 SLC4A10
10 regulation of membrane potential GO:0042391 9.71 SLC4A8 SLC4A4 GABRG2
11 cell communication GO:0007154 9.57 GJA8 GJA3
12 sulfate transport GO:0008272 9.56 SLC26A8 SLC26A1
13 anion transport GO:0006820 9.56 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
14 sulfate transmembrane transport GO:1902358 9.55 SLC26A8 SLC26A1
15 oxalate transport GO:0019532 9.52 SLC26A8 SLC26A1
16 gap junction-mediated intercellular transport GO:1990349 9.51 GJA8 GJA3
17 bicarbonate transport GO:0015701 9.28 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2

Molecular functions related to Cataract 14, Multiple Types according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 antiporter activity GO:0015297 9.8 SLC4A9 SLC4A8 SLC4A3 SLC4A2 SLC4A10 SLC26A1
2 inorganic anion exchanger activity GO:0005452 9.7 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2
3 bicarbonate transmembrane transporter activity GO:0015106 9.67 SLC4A8 SLC4A3 SLC26A8 SLC26A1
4 sodium:bicarbonate symporter activity GO:0008510 9.65 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A10
5 chloride transmembrane transporter activity GO:0015108 9.58 SLC4A8 SLC26A8 SLC26A1
6 anion:anion antiporter activity GO:0015301 9.56 SLC4A9 SLC4A8 SLC4A5 SLC4A3 SLC4A2 SLC4A10
7 gap junction channel activity GO:0005243 9.49 GJA8 GJA3
8 sulfate transmembrane transporter activity GO:0015116 9.48 SLC26A8 SLC26A1
9 secondary active sulfate transmembrane transporter activity GO:0008271 9.46 SLC26A8 SLC26A1
10 oxalate transmembrane transporter activity GO:0019531 9.43 SLC26A8 SLC26A1
11 anion transmembrane transporter activity GO:0008509 9.23 SLC4A9 SLC4A8 SLC4A5 SLC4A4 SLC4A3 SLC4A2

Sources for Cataract 14, Multiple Types

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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