Lateral Displacement of Eye disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lateral Displacement of Eye

MalaCards integrated aliases for Lateral Displacement of Eye:

Name: Lateral Displacement of Eye ¹² ¹⁵

Lateral Displacement of Globe ¹²

Classifications:

MalaCards categories:
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:12360

ICD9CM ³⁴ 376.36

SNOMED-CT ⁶⁷ 48747004

ICD10 ³² H05.21

UMLS ⁷¹ C0155272

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Summaries for Lateral Displacement of Eye

MalaCards based summary : Lateral Displacement of Eye, also known as lateral displacement of globe, is related to albinism, ocular, with sensorineural deafness and tonsil cancer. An important gene associated with Lateral Displacement of Eye is TRIM8 (Tripartite Motif Containing 8), and among its related pathways/superpathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Neural Crest Differentiation. Affiliated tissues include eye, and related phenotypes are behavior/neurological and homeostasis/metabolism

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Related Diseases for Lateral Displacement of Eye

Diseases related to Lateral Displacement of Eye via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 37)

#	Related Disease	Score	Top Affiliating Genes
1	albinism, ocular, with sensorineural deafness	9.9	PAX3 MITF
2	tonsil cancer	9.9	SOX10 SNAI2
3	waardenburg syndrome, type 2b	9.9	SOX10 MITF
4	malignant choroid melanoma	9.9	SOX10 MITF
5	gallbladder melanoma	9.8	SOX10 MITF
6	albinism, ocular, with late-onset sensorineural deafness	9.8	SOX10 MITF
7	malignant spindle cell melanoma	9.8	SOX10 MITF
8	clear cell sarcoma	9.8	SOX10 MITF
9	actinic keratosis	9.8	SOX10 MITF
10	neurilemmoma	9.7	SOX10 MITF
11	neurofibroma	9.7	SOX10 MITF
12	pendred syndrome	9.6	SLC26A4 PAX3 MITF
13	intestinal pseudo-obstruction	9.6	SOX10 EDNRB
14	diaphragmatic hernia, congenital	9.4	PAX3 EDNRB
15	cochlear disease	9.4	SOX10 SLC26A4 EDNRB
16	megacolon	9.4	SOX10 PAX3 EDNRB
17	nonsyndromic deafness	9.3	TRIM8 SLC26A4 PAX3 MITF
18	microphthalmia	9.3	SOX10 PAX3 MITF
19	waardenburg syndrome type 4	9.3	SOX10 MITF EDNRB
20	central hypoventilation syndrome, congenital	9.2	SOX10 EDNRB
21	melanoma, cutaneous malignant 1	9.2	SOX10 MITF EDNRB
22	sensorineural hearing loss	9.2	SOX10 SLC26A4 PAX3 MITF
23	waardenburg syndrome, type 4c	8.9	SOX10 PAX3 MITF EDNRB
24	peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease	8.9	SOX10 PAX3 MITF EDNRB
25	waardenburg syndrome, type 2a	8.9	SOX10 PAX3 MITF EDNRB
26	tietz albinism-deafness syndrome	8.9	SOX10 PAX3 MITF EDNRB
27	waardenburg syndrome, type 4a	8.9	SOX10 PAX3 MITF EDNRB
28	rare genetic deafness	8.6	SOX10 SLC26A4 PAX3 MITF EDNRB
29	waardenburg syndrome, type 2d	8.6	SOX10 SNAI2 PAX3 MITF EDNRB
30	waardenburg syndrome, type 2c	8.6	SOX10 SNAI2 PAX3 MITF EDNRB
31	waardenburg syndrome, type 4b	8.6	SOX10 SNAI2 PAX3 MITF EDNRB
32	waardenburg syndrome, type 2e	8.6	SOX10 SNAI2 PAX3 MITF EDNRB
33	waardenburg syndrome, type 3	8.6	SOX10 SNAI2 PAX3 MITF EDNRB
34	waardenburg syndrome, type 1	8.6	SOX10 SNAI2 PAX3 MITF EDNRB
35	piebald trait	8.6	SOX10 SNAI2 PAX3 MITF EDNRB
36	waardenburg's syndrome	8.5	SOX10 SNAI2 PAX3 MITF EDNRB
37	hirschsprung disease 1	8.5	SOX10 SNAI2 PAX3 MITF EDNRB

Graphical network of the top 20 diseases related to Lateral Displacement of Eye:

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Symptoms & Phenotypes for Lateral Displacement of Eye

MGI Mouse Phenotypes related to Lateral Displacement of Eye:

⁴⁵ (show all 14)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.01	EDNRB MITF PAX3 SLC26A4 SNAI2 SOX10
2	homeostasis/metabolism	MP:0005376	9.98	EDNRB MITF PAX3 SLC26A4 SNAI2 SOX10
3	endocrine/exocrine gland	MP:0005379	9.95	EDNRB MITF PAX3 SLC26A4 SNAI2 SOX10
4	digestive/alimentary	MP:0005381	9.91	EDNRB PAX3 SLC26A4 SNAI2 SOX10
5	embryo	MP:0005380	9.89	EDNRB MITF PAX3 SNAI2 SOX10
6	immune system	MP:0005387	9.88	EDNRB MITF PAX3 SLC26A4 SNAI2 TRIM8
7	craniofacial	MP:0005382	9.83	EDNRB MITF PAX3 SNAI2
8	integument	MP:0010771	9.77	EDNRB MITF PAX3 SNAI2 SOX10
9	hearing/vestibular/ear	MP:0005377	9.76	EDNRB MITF PAX3 SLC26A4
10	nervous system	MP:0003631	9.73	EDNRB MITF PAX3 SLC26A4 SNAI2 SOX10
11	pigmentation	MP:0001186	9.63	EDNRB MITF PAX3 SLC26A4 SNAI2 SOX10
12	limbs/digits/tail	MP:0005371	9.62	EDNRB MITF PAX3 SOX10
13	renal/urinary system	MP:0005367	9.26	EDNRB MITF PAX3 SLC26A4
14	skeleton	MP:0005390	9.1	EDNRB MITF PAX3 SLC26A4 SNAI2 TRIM8

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Drugs & Therapeutics for Lateral Displacement of Eye

Search Clinical Trials , NIH Clinical Center for Lateral Displacement of Eye

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Genetic Tests for Lateral Displacement of Eye

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Anatomical Context for Lateral Displacement of Eye

MalaCards organs/tissues related to Lateral Displacement of Eye:

⁴⁰

Eye

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Publications for Lateral Displacement of Eye

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Genes for Lateral Displacement of Eye

Genes related to Lateral Displacement of Eye (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	TRIM8	Tripartite Motif Containing 8	Protein Coding	5.49	DISEASES inferred ¹⁵
2	SLC26A4	Solute Carrier Family 26 Member 4	Protein Coding	5.17	DISEASES inferred ¹⁵
3	PAX3	Paired Box 3	Protein Coding	4.82	DISEASES inferred ¹⁵
4	SOX10	SRY-Box Transcription Factor 10	Protein Coding	4.81	DISEASES inferred ¹⁵
5	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	4.68	DISEASES inferred ¹⁵
6	EDNRB	Endothelin Receptor Type B	Protein Coding	4.6	DISEASES inferred ¹⁵
7	SNAI2	Snail Family Transcriptional Repressor 2	Protein Coding	4.28	DISEASES inferred ¹⁵

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Variations for Lateral Displacement of Eye

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Expression for Lateral Displacement of Eye

Search GEO for disease gene expression data for Lateral Displacement of Eye.

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Pathways for Lateral Displacement of Eye

Pathways related to Lateral Displacement of Eye according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of Wnt-mediated beta catenin signaling and target gene transcription ¹	11.15	SNAI2 MITF
2	Neural Crest Differentiation ¹	10.93	SOX10 SNAI2 PAX3 MITF
3	Regulation of retinoblastoma protein ¹	10.9	PAX3 MITF
4	Melanocyte Development and Pigmentation ⁶³	10.74	SOX10 PAX3 MITF

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GO Terms for Lateral Displacement of Eye

Cellular components related to Lateral Displacement of Eye according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear chromatin	GO:0000790	8.92	SOX10 SNAI2 PAX3 MITF

Biological processes related to Lateral Displacement of Eye according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of apoptotic process	GO:0043066	9.62	SOX10 SNAI2 MITF EDNRB
2	neural crest cell migration	GO:0001755	9.43	SOX10 EDNRB
3	sensory perception of sound	GO:0007605	9.43	SNAI2 SLC26A4 PAX3
4	peripheral nervous system development	GO:0007422	9.4	SOX10 EDNRB
5	regulation of pH	GO:0006885	9.37	SLC26A4 EDNRB
6	enteric nervous system development	GO:0048484	9.16	SOX10 EDNRB
7	pigmentation	GO:0043473	9.13	SNAI2 MITF EDNRB
8	melanocyte differentiation	GO:0030318	8.8	SOX10 MITF EDNRB

Molecular functions related to Lateral Displacement of Eye according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	chromatin binding	GO:0003682	9.43	SOX10 SNAI2 MITF
2	DNA-binding transcription factor activity, RNA polymerase II-specific	GO:0000981	9.26	SOX10 SNAI2 PAX3 MITF
3	E-box binding	GO:0070888	9.16	SNAI2 MITF
4	DNA-binding transcription factor activity	GO:0003700	8.92	SOX10 SNAI2 PAX3 MITF

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Sources for Lateral Displacement of Eye

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