Location |
Symbol |
Title |
MIM # |
Disorder |
Comments |
Method |
Mouse |
Xq13 |
IL2RG, SCIDX1, SCIDX, IMD4 |
Interleukin-2 receptor, gamma |
308380 |
Severe combined immunodeficiency, X-linked, 300400 (3); Combinedimmunodeficiency, X-linked, moderate, 312863 (3) |
linked to DXS159 |
Fd |
X(Il2rg) |
Xq13 |
MED12, TNRC11, TRAP230, HOPA, KIAA0192, OKS, FGS1 |
Mediator of RNA polymerase II transcription, subunit 12, S. cerevisiae, homolog of |
300188 |
Opitz-Kaveggia syndrome, 305450 (3); Lujan-Fryns syndrome, 309520 (3) |
|
REc, Fd |
X(Opa1) |
Xq13 |
NLGN3, ASPGX1, AUTSX1 |
Neuroligin 3 |
300336 |
{Autism, susceptibility to, X-linked-1}, 300425 (3);{Asperger syndrome, susceptibility to, X-linked-1}, 300494 (3) |
|
REc |
|
Xq13 |
NSBP1 |
Nucleosomal binding protein 1 |
300385 |
|
|
R |
X(Nsbp1) |
Xq13 |
OGT |
O-linked N-acetylglucosamine transferase |
300255 |
|
|
A, R |
X(Ogt) |
Xq13 |
P2RY4, NRU, P2Y4 |
Pyrimidinergic receptor P2Y, G-protein coupled, 4 |
300038 |
|
|
A |
|
Xq13 |
PGK1, PGKA |
Phosphoglycerate kinase-1 |
311800 |
Phosphoglycerate kinase 1 deficiency, 300653 (3) |
?Xq13.3; pseudogenes PGK1P1 on Xq, PGK1P2 on chr. 6 |
S, R, REb, Fd |
X(Pgk1) |
Xq13 |
PHKA1 |
Phosphorylase kinase, muscle, alpha polypeptide |
311870 |
Muscle glycogenosis, 300559 (3) |
?proximal and close to PGKA; |
REa, A, REn |
X(Phka) |
Xq13 |
PIN4, PAR14, EPVH |
Peptidyl-prolyl cis/trans isomerase, nima-interacting, 4 |
300252 |
|
|
REc |
|
Xq13 |
TAF1, TAF2A, CCG1, BA2R, DYT3 |
TAF1 RNA polymerase II, TATA box-binding protein-associated factor, 250kD |
313650 |
Dystonia-Parkinsonism, X-linked, 314250 (3) |
SVA retrotransposon insertion |
S, H |
X(Ccg1) |
Xq13-q21 |
CYSLTR1, CYSLT1 |
Cysteinyl leukotriene receptor 1 |
300201 |
|
|
REa, R |
|
Xq13-q21 |
RNF12, RLIM |
Putative RING zinc finger protein NY-REN-43 antigen |
300379 |
|
|
A |
X(Rnf12) |
Xq13-q21 |
WWS |
Wieacker-Wolff syndrome |
314580 |
Wieacker-Wolff syndrome (2) |
linked to DXYS1 |
Fd |
|
Xq13-q21.1 |
LPAR4, LPA4, P2RY9, P2Y9, GPR23 |
Lysophosphatidic acid receptor 4 |
300086 |
|
|
A |
|
Xq13-q22 |
MCS, MRXS4 |
Miles-Carpenter syndrome (mental retardation, X-linked, syndromic-4, with congenital contractures and low fingertip arches) |
309605 |
Mental retardation, X-linked, syndromic-4, with congenitalcontractures and low fingertip arches (2) |
linked to DXYS1 |
Fd |
|
Xq13.1 |
ACRC |
Acidic repeat-containing gene |
300369 |
|
|
REc |
|
Xq13.1 |
DLG3, NEDLG, SAP102, MRX90 |
Discs large, Drosophila, homolog of, 3 |
300189 |
Mental retardation, X-linked-90 (3) |
|
A, R |
|
Xq13.1 |
ERCC6L, PICH |
ERCC6-like |
300687 |
|
|
REc |
|
Xq13.1 |
GJB1, CX32, CMTX1 |
Gap junction protein, beta-1, 32kD (connexin 32) |
304040 |
Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 (3) |
|
REa, Fd |
X(Gjb1) |
Xq13.1 |
KIF4A, KIF4 |
Kinesin family member 4A |
300521 |
|
|
A |
|
Xq13.1 |
MLLT7, AFX1 |
Myeloid/lymphoid or mixed-lineage leukemia, translocated to, 7 |
300033 |
|
|
Ch |
|