MCID: SX2001
MIFTS: 3

Sox2-Related Eye Disorders

Aliases & Classifications for Sox2-Related Eye Disorders

MalaCards integrated aliases for Sox2-Related Eye Disorders:

Name: Sox2-Related Eye Disorders 23

Characteristics:

GeneReviews:

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

Summaries for Sox2-Related Eye Disorders

MalaCards based summary : Sox2-Related Eye Disorders is related to microphthalmia, syndromic 3. 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:

# Related Disease Score Top Affiliating Genes
1 microphthalmia, syndromic 3 11.3

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

Anatomical Context for Sox2-Related Eye Disorders

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

38
Eye

Publications for Sox2-Related Eye Disorders

Articles related to Sox2-Related Eye Disorders:

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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