Official Journal of the Human Genome Organisation
Gene symbol | Gene description | Associated disease |
---|---|---|
NLGN4 a | Neuroligin 4 | X-linked mental retardation, autism |
VCXA | Variably charged protein X-A | X-linked mental retardation |
STS a | Steryl-sulfatase precursor | Ichtyosis |
VCX | Variably charged protein X-B1 | X-linked mental retardation |
VCXB | Variably charged protein X-B | X-linked mental retardation |
KAL1 a | Anosmin 1 | Kallmann syndrome |
TBL1X b | Transducin-beta-like-1 | Possibly involved in the pathogenesis of ocular albinism with late-onset sensorineural deafness phenotype |
GPR143 b | G protein-coupled receptor 143 | Ocular albinism 1 |
MID1 b | Midline 1 | Opitz/BBB syndrome |
OFD1a | Orofaciodigital syndrome type I | Orofaciodigital syndrome type I |
FANCB c | Fanconi anemia complementation group B | Fanconi anemia |
NHS b | Nance-Horan syndrome | Nance-Horan syndrome (congenital cataracts and dental anomalies) |
STK9 | Serine/threonine kinase-9 | X-linked infantile spasm syndrome |
RS1 b | Retinoschisis | Retinoschisis (X-linked, juvenile) 1 |
RPS6KA3 c | Ribosomal protein S6 kinase, 90-KD | X-linked mental retardation, Coffin-Lowry-syndrome |
ARX | Aristaless related homeobox | X-linked mental retardation, hydranencephaly and abnormal genitalia |
IL1RAPL1 | Interleukin 1 receptor accessory protein-like 1 | X-linked mental retardation |