CHROMOSOMAL REGION Disease mapped: anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) Chromosome: X Genomic position start-stop: 137700000-154824264 length: 17124265 Band: Xq27-q28

LINKS EntrezGene: [289] MEDLINE: [1679229] OMIM: [301590] XplorMed

REASONS FOR ASSOCIATION

MEDLINE QUERY

A set of 29 papers related to this disease was derived from MEDLINE using the query:
anophthalmos [tw] AND mental [tw] AND retardation [tw]

MESH-C TERMS The MeSH-C terms associated to the derived papers were collected. Here you can see the terms ordered by the number of papers where they were found (number in brackets). Anophthalmos [29] Mental Retardation [24] Abnormalities, Multiple [16] Syndrome [16] Cleft Lip [7] Cleft Palate [6] Microphthalmos [5] Epilepsy [3] Hand Deformities, Congenital [3] Foot Deformities, Congenital [2] We show here only the 10 most frequent. You can also see the complete list of 46 MeSH-C terms. Each name is linked to the corresponding term description by the NLM. The number in brackets is linked to the list of papers that contained the term. The points to the related MeSH-D terms.

GO terms We computed the GO terms associated to the MeSH-C terms selected for this disease. Here you can see those with higher score of association. Each name is linked to the corresponding term description by GO. The number indicates the strength of association to anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities). The points to the related MeSH-D terms.

Follow the green arrows to navigate MeSH-C / MeSH-D / GO-terms relationship derived from our analysis of the whole MEDLINE database, and used to relate the phenotype of this disease to terms of gene functionality.

OVERVIEW OF CANDIDATES IN THE REGION

The graph represents the BLASTX hits found in the region and the genes predicted or known in the region.

Legend:

BLASTX hits

RefSeq genes

Ensembl genes

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Graph with GO scoring vs genomic position [PostScript graphic]