Disease Description

UMLS CUI C1136249
UMLS Term Mental Retardation, X-Linked
MeSH ID D038901
MeSH Term Mental Retardation, X-Linked
Disease Classes

Nervous System Diseases

Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Gene Symbol Description Entrez ID Uniprot ID Chromosomal Location

PQBP1

polyglutamine binding protein 1

10084

O60828

chrX: 48,897,912-48,903,143

RAB39B

RAB39B, member RAS oncogene family

116442

Q96DA2

chrX: 155,258,241-155,264,589

PTCHD1

patched domain containing 1

139411

Q96NR3

chrX: 23,334,016-23,404,372

AGTR2

angiotensin II receptor, type 2

186

P50052

chrX: 116,170,722-116,174,972

GDI1

GDP dissociation inhibitor 1

2664

P31150

chrX: 154,436,913-154,443,467

MAOA

monoamine oxidase A

4128

P21397

chrX: 43,654,907-43,746,824

ATRX

alpha thalassemia/mental retardation syndrome X-linked

546

P46100

chrX: 77,504,878-77,786,269

PCDH19

protocadherin 19

57526

Q8TAB3

chrX: 100,291,644-100,410,273

SLC6A8

solute carrier family 6 (neurotransmitter transporter), member 8

6535

P48029

chrX: 153,688,099-153,696,593

CASK

calcium/calmodulin-dependent serine protein kinase (MAGUK family)

8573

O14936

chrX: 41,514,934-41,923,463