Cataract 1, Multiple Types disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CTRCT1 MCID: CTR098 MIFTS: 41	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 Expand all tables

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Aliases & Classifications for Cataract 1, Multiple Types

MalaCards integrated aliases for Cataract 1, Multiple Types:

Name: Cataract 1, Multiple Types ⁵⁸ ⁷⁶ ¹³

Cataract 1, Multiple Types, with or Without Microcornea ⁵⁸ ¹² ⁷⁶

Ctrct1 ⁵⁸ ¹² ⁷⁶

Czp1 ⁵⁸ ¹² ⁷⁶

Pulverulent Zonular Cataract ⁷⁶ ⁵⁶

Cataract 1 Multiple Types ¹² ¹⁵

Cae1 ¹² ⁷⁶

Cataract, Zonular Pulverulent, 1; Czp1; Czp; Cae1 ⁵⁸

Zonular Nuclear Pulverulent Cataract ⁷⁶

Cataract, Zonular Pulverulent, 1 ⁵⁸

Cataract, Zonular Pulverulent 1 ⁷⁴

Zonular Pulverulent Cataract 1 ¹²

Cataract Zonular Pulverulent 1 ⁷⁶

Cataract Microcornea Syndrome ⁷⁴

Cataract-Microcornea Syndrome ⁷⁶

Zonular Pulverulent Cataract ⁶

Cataract, Duffy-Linked ⁵⁸

Duffy Linked Cataract ¹²

Cataract Duffy-Linked ⁷⁶

Ccmc ⁷⁶

Cznp ⁷⁶

Czp ⁷⁶

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

cataract 1, multiple types:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Eye diseases Nephrological diseases Oral diseases Neuronal diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Congenital lens malformations

Congenital cataract

External Ids:

Disease Ontology ¹² DOID:0110231

OMIM ⁵⁸ 116200

MeSH ⁴⁵ D002386

ICD10 ³⁴ Q12.0

MedGen ⁴³ C1861828

SNOMED-CT via HPO ⁷⁰ 128306009 193570009 247053007 more

UMLS ⁷⁴ C1861828 C1861829

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Summaries for Cataract 1, Multiple Types

UniProtKB/Swiss-Prot : ⁷⁶ 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 are NRF2 pathway and the visual cycle I (vertebrates). Affiliated tissues include eye and cortex, and related phenotypes are cataract and microcornea

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 : ⁵⁸ 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)

Wikipedia : ⁷⁷ The cataract-microcornea syndrome is the association of congenital cataract and... more...

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Related Diseases for Cataract 1, 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 46, Juvenile-Onset	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 16)

#	Related Disease	Score	Top Affiliating Genes
1	cataract 14, multiple types	32.8	ACHE GABRG2 GJA3 GJA8 HPGDS SNAI2
2	cataract microcornea syndrome	12.5
3	cataract 2, multiple types	11.8
4	cataract 9, multiple types	11.6
5	cataract	10.5
6	macular dystrophy with central cone involvement	10.4
7	microphthalmia	10.3
8	rheumatoid arthritis	10.3
9	arthritis	10.3
10	cataract 30, multiple types	10.3	GJA3 GJA8
11	early-onset nuclear cataract	10.2	GJA3 GJA8
12	adolescence-adult electroclinical syndrome	10.2	GABRG2 GJA8
13	cataract 21, multiple types	10.1
14	cataract 17, multiple types	10.1
15	cystic echinococcosis	10.1	CES1 CES2
16	childhood electroclinical syndrome	10.0	GABRG2 GJA8

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

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Symptoms & Phenotypes for Cataract 1, Multiple Types

Human phenotypes related to Cataract 1, Multiple Types:

³³ (show all 11)

#	Description	HPO Frequency	HPO Source Accession
1	cataract ³³	hallmark (90%)	HP:0000518
2	microcornea ³³	occasional (7.5%)	HP:0000482
3	myopia ³³	frequent (33%)	HP:0000545
4	nystagmus ³³	occasional (7.5%)	HP:0000639
5	corneal opacity ³³	occasional (7.5%)	HP:0007957
6	corneal dystrophy ³³	occasional (7.5%)	HP:0001131
7	iris coloboma ³³	occasional (7.5%)	HP:0000612
8	nuclear cataract ³³		HP:0100018
9	posterior subcapsular cataract ³³		HP:0007787
10	pulverulent cataract ³³		HP:0010693
11	developmental cataract ³³		HP:0000519

Symptoms via clinical synopsis from OMIM:

⁵⁸

Head And Neck Eyes:
congenital cataract
nuclear cataract
posterior subcapsular cataract
pulverulent zonular cataract
stellate nuclear cataract
more

Clinical features from OMIM:

116200

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Drugs & Therapeutics for Cataract 1, Multiple Types

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

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Genetic Tests for Cataract 1, Multiple Types

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Anatomical Context for Cataract 1, Multiple Types

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

⁴²

Eye, Cortex

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Publications for Cataract 1, Multiple Types

Articles related to Cataract 1, Multiple Types:

#	Title	Authors	Year
1	Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract. ( 21174522 )	He W...Lu S	2011
2	A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts. ( 18006672 )	Arora A...Moore AT	2008
3	Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. ( 17724170 )	Hansen L...Rosenberg T	2007
4	Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea. ( 16604058 )	Devi RR...Vijayalakshmi P	2006
5	A novel GJA8 mutation in an Iranian family with progressive autosomal dominant congenital nuclear cataract. ( 14627691 )	Willoughby CE...H?on E	2003
6	Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. ( 11846744 )	Polyakov AV...Evgrafov OV	2001
7	Connexin 50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin. ( 10480374 )	Berry V...Bhattacharya SS	1999
8	A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. ( 9497259 )	Shiels A...Bhattacharya S	1998
9	PROBABLE LINKAGE BETWEEN A CONGENITAL CATARACT LOCUS AND THE DUFFY BLOOD GROUP LOCUS. ( 14059288 )	RENWICK JH...LAWLER SD	1963

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Genes for Cataract 1, Multiple Types

Genes related to Cataract 1, Multiple Types (1 elite genes):

(show all 16)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GJA8	Gap Junction Protein Alpha 8	Protein Coding	1245.89	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	9497259 14059288 10480374 (more) 11846744 14627691 16604058 21174522 18006672 17724170 9497259 11846744 10480374
2	GJA3	Gap Junction Protein Alpha 3	Protein Coding	27.15	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁶	16885921 10746562
3	GABRG2	Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit	Protein Coding	17.68	DISEASES inferred ¹⁵
4	CES4A	Carboxylesterase 4A	Protein Coding	16.51	DISEASES inferred ¹⁵
5	CES2	Carboxylesterase 2	Protein Coding	15.76	DISEASES inferred ¹⁵
6	ZNF143	Zinc Finger Protein 143	Protein Coding	15.71	DISEASES inferred ¹⁵
7	CES1	Carboxylesterase 1	Protein Coding	15.62	DISEASES inferred ¹⁵
8	ACHE	Acetylcholinesterase (Cartwright Blood Group)	Protein Coding	15.24	DISEASES inferred ¹⁵
9	ACKR1	Atypical Chemokine Receptor 1 (Duffy Blood Group)	Protein Coding	14.82	DISEASES inferred ¹⁵
10	CAT	Catalase	Protein Coding	14.44	DISEASES inferred ¹⁵
11	SNAI2	Snail Family Transcriptional Repressor 2	Protein Coding	13.7	DISEASES inferred ¹⁵
12	ZNF76	Zinc Finger Protein 76	Protein Coding	7.8	DISEASES inferred ¹⁵
13	CES5A	Carboxylesterase 5A	Protein Coding	6.4	DISEASES inferred ¹⁵
14	CES3	Carboxylesterase 3	Protein Coding	6.28	DISEASES inferred ¹⁵
15	ATP11A	ATPase Phospholipid Transporting 11A	Protein Coding	4.89	DISEASES inferred ¹⁵
16	HPGDS	Hematopoietic Prostaglandin D Synthase	Protein Coding	4.24	DISEASES inferred ¹⁵

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Variations for Cataract 1, Multiple Types

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

⁷⁶

#	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

ClinVar genetic disease variations for Cataract 1, Multiple Types:

⁶ (show top 50) (show all 216)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	GJA8	NM_005267.4(GJA8): c.262C> T (p.Pro88Ser)	single nucleotide variant	Pathogenic	rs80358200	GRCh37	Chromosome 1, 147380344: 147380344
2	GJA8	NM_005267.4(GJA8): c.262C> T (p.Pro88Ser)	single nucleotide variant	Pathogenic	rs80358200	GRCh38	Chromosome 1, 147908217: 147908217
3	GJA8	NM_005267.4(GJA8): c.142G> A (p.Glu48Lys)	single nucleotide variant	Pathogenic	rs80358201	GRCh37	Chromosome 1, 147380224: 147380224
4	GJA8	NM_005267.4(GJA8): c.142G> A (p.Glu48Lys)	single nucleotide variant	Pathogenic	rs80358201	GRCh38	Chromosome 1, 147908097: 147908097
5	GJA8	NM_005267.4(GJA8): c.741T> G (p.Ile247Met)	single nucleotide variant	Likely benign	rs80358202	GRCh37	Chromosome 1, 147380823: 147380823
6	GJA8	NM_005267.4(GJA8): c.741T> G (p.Ile247Met)	single nucleotide variant	Likely benign	rs80358202	GRCh38	Chromosome 1, 147908696: 147908696
7	GJA8	NM_005267.4(GJA8): c.68G> C (p.Arg23Thr)	single nucleotide variant	Pathogenic	rs80358203	GRCh37	Chromosome 1, 147380150: 147380150
8	GJA8	NM_005267.4(GJA8): c.68G> C (p.Arg23Thr)	single nucleotide variant	Pathogenic	rs80358203	GRCh38	Chromosome 1, 147908023: 147908023
9	GJA8	NM_005267.4(GJA8): c.131T> A (p.Val44Glu)	single nucleotide variant	Pathogenic	rs80358204	GRCh37	Chromosome 1, 147380213: 147380213
10	GJA8	NM_005267.4(GJA8): c.131T> A (p.Val44Glu)	single nucleotide variant	Pathogenic	rs80358204	GRCh38	Chromosome 1, 147908086: 147908086
11	GJA8	NM_005267.4(GJA8): c.593G> A (p.Arg198Gln)	single nucleotide variant	Pathogenic	rs80358205	GRCh37	Chromosome 1, 147380675: 147380675
12	GJA8	NM_005267.4(GJA8): c.593G> A (p.Arg198Gln)	single nucleotide variant	Pathogenic	rs80358205	GRCh38	Chromosome 1, 147908548: 147908548
13	GJA8	NM_005267.4(GJA8): c.139G> A (p.Asp47Asn)	single nucleotide variant	Pathogenic	rs121434643	GRCh37	Chromosome 1, 147380221: 147380221
14	GJA8	NM_005267.4(GJA8): c.139G> A (p.Asp47Asn)	single nucleotide variant	Pathogenic	rs121434643	GRCh38	Chromosome 1, 147908094: 147908094
15	GJA8	NM_005267.4(GJA8): c.566C> T (p.Pro189Leu)	single nucleotide variant	Pathogenic	rs397515627	GRCh37	Chromosome 1, 147380648: 147380648
16	GJA8	NM_005267.4(GJA8): c.566C> T (p.Pro189Leu)	single nucleotide variant	Pathogenic	rs397515627	GRCh38	Chromosome 1, 147908521: 147908521
17	GJA8	NM_005267.4(GJA8): c.134G> C (p.Trp45Ser)	single nucleotide variant	Likely pathogenic	rs864309688	GRCh37	Chromosome 1, 147380216: 147380216
18	GJA8	NM_005267.4(GJA8): c.134G> C (p.Trp45Ser)	single nucleotide variant	Likely pathogenic	rs864309688	GRCh38	Chromosome 1, 147908089: 147908089
19	GJA8	NM_005267.4(GJA8): c.658A> G (p.Asn220Asp)	single nucleotide variant	Likely benign	rs138140155	GRCh37	Chromosome 1, 147380740: 147380740
20	GJA8	NM_005267.4(GJA8): c.658A> G (p.Asn220Asp)	single nucleotide variant	Likely benign	rs138140155	GRCh38	Chromosome 1, 147908613: 147908613
21	GJA8	NM_005267.4(GJA8): c.804C> T (p.Leu268=)	single nucleotide variant	Benign	rs3766503	GRCh37	Chromosome 1, 147380886: 147380886
22	GJA8	NM_005267.4(GJA8): c.804C> T (p.Leu268=)	single nucleotide variant	Benign	rs3766503	GRCh38	Chromosome 1, 147908759: 147908759
23	GJA8	NM_005267.4(GJA8): c.-24A> G	single nucleotide variant	Likely benign	rs377431608	GRCh37	Chromosome 1, 147374975: 147374975
24	GJA8	NM_005267.4(GJA8): c.-24A> G	single nucleotide variant	Likely benign	rs377431608	GRCh38	Chromosome 1, 147902849: 147902849
25	GJA8	NM_005267.4(GJA8): c.1069A> G (p.Thr357Ala)	single nucleotide variant	Uncertain significance	rs782584748	GRCh38	Chromosome 1, 147909024: 147909024
26	GJA8	NM_005267.4(GJA8): c.1069A> G (p.Thr357Ala)	single nucleotide variant	Uncertain significance	rs782584748	GRCh37	Chromosome 1, 147381151: 147381151
27	GJA8	NM_005267.4(GJA8): c.678C> A (p.His226Gln)	single nucleotide variant	Uncertain significance	rs201476382	GRCh38	Chromosome 1, 147908633: 147908633
28	GJA8	NM_005267.4(GJA8): c.678C> A (p.His226Gln)	single nucleotide variant	Uncertain significance	rs201476382	GRCh37	Chromosome 1, 147380760: 147380760
29	GJA8	NM_005267.4(GJA8): c.893A> G (p.Asn298Ser)	single nucleotide variant	Likely benign	rs142376567	GRCh38	Chromosome 1, 147908848: 147908848
30	GJA8	NM_005267.4(GJA8): c.893A> G (p.Asn298Ser)	single nucleotide variant	Likely benign	rs142376567	GRCh37	Chromosome 1, 147380975: 147380975
31	GJA8	NM_005267.4(GJA8): c.-33C> T	single nucleotide variant	Likely benign	rs587768589	GRCh37	Chromosome 1, 147374966: 147374966
32	GJA8	NM_005267.4(GJA8): c.-33C> T	single nucleotide variant	Likely benign	rs587768589	GRCh38	Chromosome 1, 147902840: 147902840
33	GJA8	NM_005267.4(GJA8): c.300C> T (p.Val100=)	single nucleotide variant	Uncertain significance	rs886045254	GRCh37	Chromosome 1, 147380382: 147380382
34	GJA8	NM_005267.4(GJA8): c.300C> T (p.Val100=)	single nucleotide variant	Uncertain significance	rs886045254	GRCh38	Chromosome 1, 147908255: 147908255
35	GJA8	NM_005267.4(GJA8): c.1096G> A (p.Val366Met)	single nucleotide variant	Uncertain significance	rs782056871	GRCh38	Chromosome 1, 147909051: 147909051
36	GJA8	NM_005267.4(GJA8): c.1096G> A (p.Val366Met)	single nucleotide variant	Uncertain significance	rs782056871	GRCh37	Chromosome 1, 147381178: 147381178
37	GJA8	NM_005267.4(GJA8): c.58G> A (p.Val20Ile)	single nucleotide variant	Uncertain significance	rs782298787	GRCh37	Chromosome 1, 147380140: 147380140
38	GJA8	NM_005267.4(GJA8): c.58G> A (p.Val20Ile)	single nucleotide variant	Uncertain significance	rs782298787	GRCh38	Chromosome 1, 147908013: 147908013
39	GJA8	NM_005267.4(GJA8): c.183C> T (p.Cys61=)	single nucleotide variant	Uncertain significance	rs782213276	GRCh37	Chromosome 1, 147380265: 147380265
40	GJA8	NM_005267.4(GJA8): c.183C> T (p.Cys61=)	single nucleotide variant	Uncertain significance	rs782213276	GRCh38	Chromosome 1, 147908138: 147908138
41	GJA8	NM_005267.4(GJA8): c.285C> T (p.His95=)	single nucleotide variant	Uncertain significance	rs886045253	GRCh37	Chromosome 1, 147380367: 147380367
42	GJA8	NM_005267.4(GJA8): c.285C> T (p.His95=)	single nucleotide variant	Uncertain significance	rs886045253	GRCh38	Chromosome 1, 147908240: 147908240
43	GJA8	NM_005267.4(GJA8): c.385G> A (p.Val129Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142415337	GRCh37	Chromosome 1, 147380467: 147380467
44	GJA8	NM_005267.4(GJA8): c.385G> A (p.Val129Ile)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142415337	GRCh38	Chromosome 1, 147908340: 147908340
45	GJA8	NM_005267.4(GJA8): c.875T> C (p.Leu292Pro)	single nucleotide variant	Uncertain significance	rs886045255	GRCh38	Chromosome 1, 147908830: 147908830
46	GJA8	NM_005267.4(GJA8): c.875T> C (p.Leu292Pro)	single nucleotide variant	Uncertain significance	rs886045255	GRCh37	Chromosome 1, 147380957: 147380957
47	GJA8	NM_005267.4(GJA8): c.994G> A (p.Glu332Lys)	single nucleotide variant	Uncertain significance	rs143688085	GRCh38	Chromosome 1, 147908949: 147908949
48	GJA8	NM_005267.4(GJA8): c.994G> A (p.Glu332Lys)	single nucleotide variant	Uncertain significance	rs143688085	GRCh37	Chromosome 1, 147381076: 147381076
49	GJA8	NM_005267.4(GJA8): c.1102G> C (p.Glu368Gln)	single nucleotide variant	Likely benign	rs587673409	GRCh38	Chromosome 1, 147909057: 147909057
50	GJA8	NM_005267.4(GJA8): c.1102G> C (p.Glu368Gln)	single nucleotide variant	Likely benign	rs587673409	GRCh37	Chromosome 1, 147381184: 147381184

Sources

Expression for Cataract 1, Multiple Types

Search GEO for disease gene expression data for Cataract 1, Multiple Types.

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Pathways for Cataract 1, Multiple Types

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

#	Super pathways	Score	Top Affiliating Genes
1	NRF2 pathway ¹	11.72	CES1 CES2 CES3 CES4A CES5A
2	the visual cycle I (vertebrates) ¹ Show member pathways retinol biosynthesis ¹ The canonical retinoid cycle in rods (twilight vision) ⁶⁷	11.3	CES1 CES2 CES4A CES5A
3	E2F transcription factor network ¹	10.88	CES1 CES2 CES3 CES4A CES5A
4	Phase I biotransformations, non P450 ¹ Show member pathways Methylphenidate Pathway, Pharmacokinetics ⁶²	10.09	CES1 CES2 CES5A

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GO Terms for Cataract 1, Multiple Types

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

#	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:0005615	9.17	ACHE CAT CES1 CES2 CES3 CES4A
2	gap junction	GO:0005921	9.16	GJA3 GJA8
3	connexin complex	GO:0005922	8.96	GJA3 GJA8

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein tetramerization	GO:0051262	9.4	ACHE CAT
2	response to radiation	GO:0009314	9.37	CAT SNAI2
3	xenobiotic metabolic process	GO:0006805	9.33	CES1 CES2 CES3
4	prostaglandin metabolic process	GO:0006693	9.32	CES2 HPGDS
5	regulation of transcription by RNA polymerase III	GO:0006359	9.26	ZNF143 ZNF76
6	regulation of chemokine production	GO:0032642	8.96	ACKR1 SNAI2
7	lipid catabolic process	GO:0016042	8.92	CES1 CES3 CES4A CES5A

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

#	Name	GO ID	Score	Top Affiliating Genes
1	hydrolase activity	GO:0016787	9.8	ACHE CES1 CES2 CES3 CES4A CES5A
2	triglyceride lipase activity	GO:0004806	9.46	CES1 CES3 CES4A CES5A
3	methylumbelliferyl-acetate deacetylase activity	GO:0047374	9.26	CES1 CES2
4	sterol esterase activity	GO:0004771	9.26	CES1 CES3 CES4A CES5A
5	carboxylic ester hydrolase activity	GO:0052689	9.1	ACHE CES1 CES2 CES3 CES4A CES5A
6	gap junction channel activity	GO:0005243	9.07	GJA8

Sources

Sources for Cataract 1, Multiple Types

¹ BioSystems

² BitterDB

³ CDC

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Cataract 1, Multiple Types (CTRCT1)

Aliases & Classifications for Cataract 1, Multiple Types

MalaCards integrated aliases for Cataract 1, Multiple Types:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Cataract 1, Multiple Types

Related Diseases for Cataract 1, Multiple Types

Diseases in the Cataract family:

Diseases related to Cataract 1, Multiple Types via text searches within MalaCards or GeneCards Suite gene sharing:

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

Symptoms & Phenotypes for Cataract 1, Multiple Types

Human phenotypes related to Cataract 1, Multiple Types:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Cataract 1, Multiple Types

Genetic Tests for Cataract 1, Multiple Types

Anatomical Context for Cataract 1, Multiple Types

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

Publications for Cataract 1, Multiple Types

Articles related to Cataract 1, Multiple Types:

Genes for Cataract 1, Multiple Types

Genes related to Cataract 1, Multiple Types (1 elite genes):

Variations for Cataract 1, Multiple Types

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

ClinVar genetic disease variations for Cataract 1, Multiple Types:

Expression for Cataract 1, Multiple Types

Pathways for Cataract 1, Multiple Types

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

GO Terms for Cataract 1, Multiple Types

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

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

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

Sources for Cataract 1, Multiple Types