MCID: SX2001
MIFTS: 6

Sox2-Related Eye Disorders

Categories: Genetic diseases

Aliases & Classifications for Sox2-Related Eye Disorders

MalaCards integrated aliases for Sox2-Related Eye Disorders:

Name: Sox2-Related Eye Disorders 23 24

Characteristics:

GeneReviews:

23
Penetrance Penetrance appears to be complete for non-mosaic loss-of-function pathogenic variants...

Classifications:



Summaries for Sox2-Related Eye Disorders

MalaCards based summary : Sox2-Related Eye Disorders is related to microphthalmia, syndromic 3. An important gene associated with Sox2-Related Eye Disorders is SOX2 (SRY-Box 2). Affiliated tissues include eye.

GeneReviews: NBK1300

Related Diseases for Sox2-Related Eye Disorders

Diseases related to Sox2-Related Eye Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 3 11.2

Symptoms & Phenotypes for Sox2-Related Eye Disorders

Drugs & Therapeutics for Sox2-Related Eye Disorders

Search Clinical Trials , NIH Clinical Center for Sox2-Related Eye Disorders

Genetic Tests for Sox2-Related Eye Disorders

Genetic tests related to Sox2-Related Eye Disorders:

id Genetic test Affiliating Genes
1 Sox2-Related Eye Disorders 24 SOX2

Anatomical Context for Sox2-Related Eye Disorders

MalaCards organs/tissues related to Sox2-Related Eye Disorders:

39
Eye

Publications for Sox2-Related Eye Disorders

Articles related to Sox2-Related Eye Disorders:

id Title Authors Year
1
SOX2-Related Eye Disorders ( 20301477 )
1993

Variations for Sox2-Related Eye Disorders

Expression for Sox2-Related Eye Disorders

Search GEO for disease gene expression data for Sox2-Related Eye Disorders.

Pathways for Sox2-Related Eye Disorders

GO Terms for Sox2-Related Eye Disorders

Sources for Sox2-Related Eye Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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