Early-Onset Nuclear Cataract disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ERL043 MIFTS: 28	Early-Onset Nuclear Cataract Categories: Eye diseases, Fetal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Early-Onset Nuclear Cataract

MalaCards integrated aliases for Early-Onset Nuclear Cataract:

Name: Early-Onset Nuclear Cataract ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

early-onset nuclear cataract
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

Congenital lens malformations

Congenital cataract

Orphanet: ⁵⁸

Rare eye diseases

Developmental anomalies during embryogenesis

External Ids:

ICD10 via Orphanet ³³ Q12.0

UMLS via Orphanet ⁷¹ C0392557 C1112705

Orphanet ⁵⁸ ORPHA98991

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Summaries for Early-Onset Nuclear Cataract

MalaCards based summary : Early-Onset Nuclear Cataract is related to disuse amblyopia and cataract 32, multiple types. An important gene associated with Early-Onset Nuclear Cataract is FYCO1 (FYVE And Coiled-Coil Domain Autophagy Adaptor 1), and among its related pathways/superpathways is Protein processing in endoplasmic reticulum. Affiliated tissues include eye, and related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Early-Onset Nuclear Cataract

Diseases in the Early-Onset Nuclear Cataract family:

Cataract, Age-Related Nuclear

Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract

Diseases related to Early-Onset Nuclear Cataract via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 56)

#	Related Disease	Score	Top Affiliating Genes
1	disuse amblyopia	10.3	FYCO1 CRYAA
2	cataract 32, multiple types	10.3	CRYBA1 CRYAA
3	leukocoria	10.3	CRYBA1 CRYAA
4	cataract 48	10.3	CRYBA2 CRYAA
5	corneal staphyloma	10.2	CRYBB3 CRYBB1
6	cataract 11, multiple types	10.2	CRYBA1 CRYAA
7	early-onset zonular cataract	10.2	WFS1 FYCO1 CRYAB
8	myopathy, myofibrillar, 2	10.2	CRYAB CRYAA
9	galactosemia ii	10.2	CRYAA BFSP1
10	early-onset partial cataract	10.2	WFS1 FYCO1 CRYAB
11	retinal perforation	10.2	CRYBB2 CRYAA
12	cataract 31, multiple types	10.2	CRYBA1 CRYAA BFSP1
13	lens subluxation	10.2	CRYBA2 CRYAA BFSP1
14	cataract 16, multiple types	10.2	CRYBA1 CRYAB CRYAA
15	night blindness, congenital stationary, type 2a	10.2	CRYBA1 CRYAA
16	scleral staphyloma	10.1	CRYBB3 CRYBA1 CRYAA
17	cataract 24	10.1	CRYBB3 CRYBA2 CRYAA
18	triosephosphate isomerase deficiency	10.1	CRYBB3 CRYBB1 CRYAA
19	senile cataract	10.1	EPHA2 CRYAA BFSP1
20	wolfram syndrome 1	10.1	WFS1 CRYAA
21	autoimmune optic neuritis	10.1	MIP CRYBA1
22	nuclear senile cataract	10.1	CRYGD CRYGC BFSP1
23	sclerocornea	10.0	GJA8 CRYAA
24	eye accommodation disease	10.0	MIP CRYAA BFSP1
25	cataract 14, multiple types	10.0	GJA8 GJA3
26	myofibrillar myopathy	10.0	UNC45B CRYAB CRYAA
27	cataract 28	10.0	NHS CRYAA
28	cataract 6, multiple types	9.9	EPHA2 CRYBB3 CRYBA1 CRYAA
29	intraocular pressure quantitative trait locus	9.9	MIP CRYAB CRYAA
30	early-onset posterior subcapsular cataract	9.9	UNC45B EPHA2 CRYBB2
31	cerulean cataract	9.9	MIP CRYGD CRYBB2
32	oculodentodigital dysplasia	9.9	GJA8 GJA3
33	cataract 9, multiple types	9.9	GJA8 CRYBB2 CRYBB1 CRYAA
34	anterior segment dysgenesis	9.8	GJA8 FYCO1 CRYBB1 CRYAA BFSP1
35	congenital nystagmus	9.8	GJA8 CRYAA
36	aniridia 1	9.7	GJA8 CRYBB2 CRYBB1 CRYAA BFSP1
37	abruzzo-erickson syndrome	9.7	GJA3 CRYBB3 CRYBB2 CRYBB1 CRYAA
38	presbyopia	9.7	MIP CRYGD CRYAB CRYAA BFSP1
39	early-onset sutural cataract	9.7	MIP GJA8 CRYBB2 CRYBA1
40	immature cataract	9.6	MIP GJA8 GJA3 CRYAA
41	early-onset posterior polar cataract	9.5	MIP GJA3 EPHA2 CRYBA1 CRYAB
42	axenfeld-rieger syndrome, type 3	9.5	GJA8 CRYBB2 CRYBB1 CRYBA1 CRYAB CRYAA
43	mature cataract	9.5	MIP GJA8 CRYGD CRYBB2 CRYAA
44	cataract 1, multiple types	9.5	NHS GJA8 GJA3 CRYAA
45	cataract microcornea syndrome	9.5	GJA8 CRYGD CRYGC CRYBB2 CRYBB1 CRYAA
46	early-onset lamellar cataract	9.5	MIP CRYGD CRYGC CRYBA1 CRYAB CRYAA
47	amblyopia	9.5	GJA8 GJA3 CRYGD CRYBB1 CRYAA BFSP1
48	erythrokeratodermia variabilis et progressiva 1	9.5	GJA8 GJA3 CRYBB3 CRYBB2 CRYBA1 CRYAA
49	posterior polar cataract	9.4	GJA3 EPHA2 CRYGD CRYBA1 CRYAB CRYAA
50	cataract 30, multiple types	9.4	GJA8 GJA3 CRYGD CRYGC CRYBB2 CRYBB1

Graphical network of the top 20 diseases related to Early-Onset Nuclear Cataract:

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Symptoms & Phenotypes for Early-Onset Nuclear Cataract

GenomeRNAi Phenotypes related to Early-Onset Nuclear Cataract according to GeneCards Suite gene sharing:

²⁶

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00221-A-2	9.58	EPHA2
2	Decreased viability	GR00221-A-3	9.58	EPHA2
3	Decreased viability	GR00221-A-4	9.58	EPHA2
4	Decreased viability	GR00249-S	9.58	CRYAA CRYBB1 CRYBB3 MIP
5	Decreased viability	GR00381-A-1	9.58	GJA3
6	Decreased viability	GR00386-A-1	9.58	CRYBB1 CRYBB2 FYCO1 GJA8 NHS
7	Decreased viability	GR00402-S-2	9.58	CRYAA CRYBA2 CRYBB1 CRYGC GJA3

MGI Mouse Phenotypes related to Early-Onset Nuclear Cataract:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye	MP:0005391	9.44	BFSP1 CRYAB CRYBA1 CRYBA2 CRYBB2 CRYGC

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Drugs & Therapeutics for Early-Onset Nuclear Cataract

Search Clinical Trials , NIH Clinical Center for Early-Onset Nuclear Cataract

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Genetic Tests for Early-Onset Nuclear Cataract

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Anatomical Context for Early-Onset Nuclear Cataract

MalaCards organs/tissues related to Early-Onset Nuclear Cataract:

⁴⁰

Eye

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Publications for Early-Onset Nuclear Cataract

Articles related to Early-Onset Nuclear Cataract:

#	Title	Authors	PMID	Year
1	Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans. ⁶	Berry V...Bhattacharya SS	23531866	2013
2	Mutations in FYCO1 cause autosomal-recessive congenital cataracts. ⁶	Chen J...Hejtmancik JF	21636066	2011
3	A gene causing autosomal recessive cataract maps to the short arm of chromosome 3. ⁶	Pras E...Frydman M	11519376	2001
4	Concomitant Presence of Carcinoma of Breast in a Patient with Early-Onset Cataract: First Case Report of a Potential Association. ⁶¹	Faridi SH...Lodhi M	28658846	2017

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Genes for Early-Onset Nuclear Cataract

Genes related to Early-Onset Nuclear Cataract (18 elite genes):

(show all 18)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FYCO1	FYVE And Coiled-Coil Domain Autophagy Adaptor 1	Protein Coding	775	Pathogenic ⁶ Causative germline mutation ⁵⁸ Likely pathogenic ⁶	11519376 21636066 24384146
2	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	750	Pathogenic ⁶ Causative germline mutation ⁵⁸	23531866
3	BFSP1	Beaded Filament Structural Protein 1	Protein Coding	350	Causative germline mutation ⁵⁸	24379646
4	CRYAA	Crystallin Alpha A	Protein Coding	350	Causative germline mutation ⁵⁸	19390652 24074001 24384146
5	CRYAB	Crystallin Alpha B	Protein Coding	350	Causative germline mutation ⁵⁸	19597569 24384146 26622071
6	CRYBA1	Crystallin Beta A1	Protein Coding	350	Causative germline mutation ⁵⁸	21686330 24384146
7	CRYBA2	Crystallin Beta A2	Protein Coding	350	Causative germline mutation ⁵⁸	23508780
8	CRYBB1	Crystallin Beta B1	Protein Coding	350	Causative germline mutation ⁵⁸	18432316 17460281 24384146
9	CRYBB2	Crystallin Beta B2	Protein Coding	350	Causative germline mutation ⁵⁸	19649175 24384146
10	CRYBB3	Crystallin Beta B3	Protein Coding	350	Causative germline mutation ⁵⁸	23508780 15914629
11	CRYGC	Crystallin Gamma C	Protein Coding	350	Causative germline mutation ⁵⁸	18618005 24384146
12	CRYGD	Crystallin Gamma D	Protein Coding	350	Causative germline mutation ⁵⁸	21031598 26147294 24384146
13	EPHA2	EPH Receptor A2	Protein Coding	350	Causative germline mutation ⁵⁸	24014202
14	GJA3	Gap Junction Protein Alpha 3	Protein Coding	350	Causative germline mutation ⁵⁸	16234473 20431721 21552498
15	GJA8	Gap Junction Protein Alpha 8	Protein Coding	350	Causative germline mutation ⁵⁸	14627691 24384146
16	MIP	Major Intrinsic Protein Of Lens Fiber	Protein Coding	350	Causative germline mutation ⁵⁸	21245956 21647270 24384146
17	NHS	NHS Actin Remodeling Regulator	Protein Coding	350	Causative germline mutation ⁵⁸	19414485 24968223 24384146
18	UNC45B	Unc-45 Myosin Chaperone B	Protein Coding	350	Causative germline mutation ⁵⁸	24549050

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Variations for Early-Onset Nuclear Cataract

ClinVar genetic disease variations for Early-Onset Nuclear Cataract:

⁶ (show top 50) (show all 246)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	FYCO1	NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter)	SNV	Pathogenic	30645	rs387906963	GRCh37: 3:46009781-46009781 GRCh38: 3:45968289-45968289
2	FYCO1	NM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter)	SNV	Pathogenic	30646	rs387906964	GRCh37: 3:46008620-46008620 GRCh38: 3:45967128-45967128
3	FYCO1	FYCO1, IVS9DS, G-T, +1	SNV	Pathogenic	30647		GRCh37: GRCh38:
4	FYCO1	NM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs)	Duplication	Pathogenic	30648	rs1240503246	GRCh37: 3:45996822-45996823 GRCh38: 3:45955330-45955331
5	FYCO1	NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro)	SNV	Pathogenic	30649	rs387906965	GRCh37: 3:45972687-45972687 GRCh38: 3:45931195-45931195
6	FYCO1	NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter)	SNV	Pathogenic	30650	rs387906966	GRCh37: 3:46009280-46009280 GRCh38: 3:45967788-45967788
7	FYCO1	NM_024513.4(FYCO1):c.3325_3326CT[1] (p.Cys1110fs)	Microsatellite	Pathogenic	430962	rs747093432	GRCh37: 3:46003826-46003827 GRCh38: 3:45962334-45962335
8	FYCO1	NM_024513.4(FYCO1):c.2505del (p.Ala836fs)	Deletion	Pathogenic	660217	rs1575369255	GRCh37: 3:46008321-46008321 GRCh38: 3:45966829-45966829
9	WFS1	NM_006005.3(WFS1):c.1385A>G (p.Glu462Gly)	SNV	Pathogenic	92252	rs398123066	GRCh37: 4:6302907-6302907 GRCh38: 4:6301180-6301180
10	FYCO1	NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter)	SNV	Pathogenic	982778		GRCh37: 3:46009415-46009415 GRCh38: 3:45967923-45967923
11	FYCO1	NM_024513.4(FYCO1):c.793dup (p.Ala265fs)	Duplication	Likely pathogenic	982651		GRCh37: 3:46010032-46010033 GRCh38: 3:45968540-45968541
12	FYCO1	NM_024513.4(FYCO1):c.1621C>T (p.Gln541Ter)	SNV	Likely pathogenic	693984	rs200557771	GRCh37: 3:46009205-46009205 GRCh38: 3:45967713-45967713
13	FYCO1	NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln)	SNV	Conflicting interpretations of pathogenicity	430961	rs140159323	GRCh37: 3:45965238-45965238 GRCh38: 3:45923746-45923746
14	FYCO1	NM_024513.4(FYCO1):c.3825G>A (p.Pro1275=)	SNV	Conflicting interpretations of pathogenicity	345500	rs748985200	GRCh37: 3:45996860-45996860 GRCh38: 3:45955368-45955368
15	FYCO1	NM_024513.4(FYCO1):c.457C>G (p.Gln153Glu)	SNV	Uncertain significance	648973	rs1460800228	GRCh37: 3:46014662-46014662 GRCh38: 3:45973170-45973170
16	FYCO1	NM_024513.4(FYCO1):c.1537C>T (p.Arg513Trp)	SNV	Uncertain significance	650207	rs141828619	GRCh37: 3:46009289-46009289 GRCh38: 3:45967797-45967797
17	FYCO1	NM_024513.4(FYCO1):c.4292A>G (p.Asn1431Ser)	SNV	Uncertain significance	655448	rs372021321	GRCh37: 3:45965217-45965217 GRCh38: 3:45923725-45923725
18	FYCO1	NM_024513.4(FYCO1):c.2857G>T (p.Gly953Trp)	SNV	Uncertain significance	468445	rs150498691	GRCh37: 3:46007969-46007969 GRCh38: 3:45966477-45966477
19	FYCO1	NM_024513.4(FYCO1):c.1252G>A (p.Glu418Lys)	SNV	Uncertain significance	536344	rs72889997	GRCh37: 3:46009574-46009574 GRCh38: 3:45968082-45968082
20	FYCO1	NM_024513.4(FYCO1):c.241G>A (p.Val81Met)	SNV	Uncertain significance	468441	rs1167055520	GRCh37: 3:46021244-46021244 GRCh38: 3:45979752-45979752
21	FYCO1	NM_024513.4(FYCO1):c.632C>T (p.Thr211Ile)	SNV	Uncertain significance	468450	rs150218695	GRCh37: 3:46010194-46010194 GRCh38: 3:45968702-45968702
22	FYCO1	NM_024513.4(FYCO1):c.2690A>G (p.Gln897Arg)	SNV	Uncertain significance	468442	rs751793566	GRCh37: 3:46008136-46008136 GRCh38: 3:45966644-45966644
23	FYCO1	NM_024513.4(FYCO1):c.280A>G (p.Ile94Val)	SNV	Uncertain significance	468443	rs755356775	GRCh37: 3:46021205-46021205 GRCh38: 3:45979713-45979713
24	FYCO1	NM_024513.4(FYCO1):c.*2286T>C	SNV	Uncertain significance	345462	rs886058557	GRCh37: 3:45960971-45960971 GRCh38: 3:45919479-45919479
25	FYCO1	NM_024513.4(FYCO1):c.150G>A (p.Glu50=)	SNV	Uncertain significance	345542	rs886058572	GRCh37: 3:46023074-46023074 GRCh38: 3:45981582-45981582
26	FYCO1	NM_024513.4(FYCO1):c.*709C>T	SNV	Uncertain significance	345479	rs559852330	GRCh37: 3:45962548-45962548 GRCh38: 3:45921056-45921056
27	FYCO1	NM_024513.4(FYCO1):c.1098C>T (p.Ala366=)	SNV	Uncertain significance	345530	rs201904937	GRCh37: 3:46009728-46009728 GRCh38: 3:45968236-45968236
28	FYCO1	NM_024513.4(FYCO1):c.1144G>A (p.Ala382Thr)	SNV	Uncertain significance	345527	rs886058570	GRCh37: 3:46009682-46009682 GRCh38: 3:45968190-45968190
29	FYCO1	NM_024513.4(FYCO1):c.325C>T (p.Arg109Cys)	SNV	Uncertain significance	345541	rs886058571	GRCh37: 3:46016801-46016801 GRCh38: 3:45975309-45975309
30	FYCO1	NM_024513.4(FYCO1):c.*2757C>A	SNV	Uncertain significance	345450	rs186073318	GRCh37: 3:45960500-45960500 GRCh38: 3:45919008-45919008
31	FYCO1	NM_024513.4(FYCO1):c.*3283G>A	SNV	Uncertain significance	345442	rs886058551	GRCh37: 3:45959974-45959974 GRCh38: 3:45918482-45918482
32	FYCO1	NM_024513.4(FYCO1):c.3890C>T (p.Ser1297Phe)	SNV	Uncertain significance	835238		GRCh37: 3:45996795-45996795 GRCh38: 3:45955303-45955303
33	FYCO1	NM_024513.4(FYCO1):c.*3278G>A	SNV	Uncertain significance	899964		GRCh37: 3:45959979-45959979 GRCh38: 3:45918487-45918487
34	FYCO1	NM_024513.4(FYCO1):c.*3063G>A	SNV	Uncertain significance	899965		GRCh37: 3:45960194-45960194 GRCh38: 3:45918702-45918702
35	FYCO1	NM_024513.4(FYCO1):c.*3006G>A	SNV	Uncertain significance	899966		GRCh37: 3:45960251-45960251 GRCh38: 3:45918759-45918759
36	FYCO1	NM_024513.4(FYCO1):c.*1398G>A	SNV	Uncertain significance	900039		GRCh37: 3:45961859-45961859 GRCh38: 3:45920367-45920367
37	FYCO1	NM_024513.4(FYCO1):c.*1349T>C	SNV	Uncertain significance	900040		GRCh37: 3:45961908-45961908 GRCh38: 3:45920416-45920416
38	FYCO1	NM_024513.4(FYCO1):c.*1270T>C	SNV	Uncertain significance	900041		GRCh37: 3:45961987-45961987 GRCh38: 3:45920495-45920495
39	FYCO1	NM_024513.4(FYCO1):c.*1211C>A	SNV	Uncertain significance	900042		GRCh37: 3:45962046-45962046 GRCh38: 3:45920554-45920554
40	FYCO1	NM_024513.4(FYCO1):c.*59C>G	SNV	Uncertain significance	900103		GRCh37: 3:45963198-45963198 GRCh38: 3:45921706-45921706
41	FYCO1	NM_024513.4(FYCO1):c.4251+11G>A	SNV	Uncertain significance	900104		GRCh37: 3:45972552-45972552 GRCh38: 3:45931060-45931060
42	FYCO1	NM_024513.4(FYCO1):c.3269+10A>T	SNV	Uncertain significance	900168		GRCh37: 3:46005818-46005818 GRCh38: 3:45964326-45964326
43	FYCO1	NM_024513.4(FYCO1):c.3151-12G>A	SNV	Uncertain significance	900170		GRCh37: 3:46005958-46005958 GRCh38: 3:45964466-45964466
44	FYCO1	NM_024513.4(FYCO1):c.3047G>A (p.Ser1016Asn)	SNV	Uncertain significance	900171		GRCh37: 3:46007779-46007779 GRCh38: 3:45966287-45966287
45	FYCO1	NM_024513.4(FYCO1):c.844C>G (p.Arg282Gly)	SNV	Uncertain significance	900287		GRCh37: 3:46009982-46009982 GRCh38: 3:45968490-45968490
46	FYCO1	NM_024513.4(FYCO1):c.793G>A (p.Ala265Thr)	SNV	Uncertain significance	900288		GRCh37: 3:46010033-46010033 GRCh38: 3:45968541-45968541
47	FYCO1	NM_024513.4(FYCO1):c.*2771A>G	SNV	Uncertain significance	901145		GRCh37: 3:45960486-45960486 GRCh38: 3:45918994-45918994
48	FYCO1	NM_024513.4(FYCO1):c.*1074C>T	SNV	Uncertain significance	901200		GRCh37: 3:45962183-45962183 GRCh38: 3:45920691-45920691
49	FYCO1	NM_024513.4(FYCO1):c.*988C>A	SNV	Uncertain significance	901201		GRCh37: 3:45962269-45962269 GRCh38: 3:45920777-45920777
50	FYCO1	NM_024513.4(FYCO1):c.4081G>A (p.Gly1361Arg)	SNV	Uncertain significance	901270		GRCh37: 3:45972733-45972733 GRCh38: 3:45931241-45931241

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Expression for Early-Onset Nuclear Cataract

Search GEO for disease gene expression data for Early-Onset Nuclear Cataract.

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Pathways for Early-Onset Nuclear Cataract

Pathways related to Early-Onset Nuclear Cataract according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Protein processing in endoplasmic reticulum ³⁶	11.03	WFS1 CRYAB CRYAA

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GO Terms for Early-Onset Nuclear Cataract

Cellular components related to Early-Onset Nuclear Cataract according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	connexin complex	GO:0005922	8.96	GJA8 GJA3
2	gap junction	GO:0005921	8.8	MIP GJA8 GJA3

Biological processes related to Early-Onset Nuclear Cataract according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	visual perception	GO:0007601	9.7	WFS1 MIP GJA3 CRYGD CRYGC CRYBB3
2	camera-type eye development	GO:0043010	9.5	GJA8 CRYBB2 CRYAB
3	lens development in camera-type eye	GO:0002088	9.4	UNC45B NHS MIP GJA8 CRYGD CRYGC
4	negative regulation of cytokine production	GO:0001818	9.37	EPHA2 CRYBA1
5	gap junction-mediated intercellular transport	GO:1990349	9.33	MIP GJA8 GJA3
6	negative regulation of intracellular transport	GO:0032387	9.26	CRYAB CRYAA

Molecular functions related to Early-Onset Nuclear Cataract according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of eye lens	GO:0005212	9.36	MIP CRYGD CRYGC CRYBB3 CRYBB2 CRYBB1
2	structural molecule activity	GO:0005198	9.33	CRYBB2 CRYAB CRYAA
3	gap junction channel activity	GO:0005243	8.96	GJA8 GJA3

Sources

Sources for Early-Onset Nuclear Cataract

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia