| Human | LOC100507436 | 100507436 | | INFERRED, Score=800, UMLKSK CUI: C1136249 |
| Human | CCR2 | 729230 | chemokine (C-C motif) receptor 2 | INFERRED, Score=800, UMLKSK CUI: C1136249 |
| Human | ZNF674 | 641339 | zinc finger protein 674 | Identification of ZNF674 as the third X-linked mental retardation gene in this cluster may indicate a common role for these zinc-finger genes that is crucial to human cognitive functioning |
| Human | MIR212 | 406994 | microRNA 212 | INFERRED, Score=800, UMLKSK CUI: C1136249 |
| Human | MRX82 | 378484 | mental retardation, X-linked 82 | Clinical and molecular studies are reported on a Basque family (MRX82) with nonsyndromic X-linked mental retardation (XLMR) in five affected males |
| Human | KIAA2022 | 340533 | KIAA2022 | disrupted in X-linked mental retardation |
| Human | NKPD1 | 284353 | NTPase, KAP family P-loop domain containing 1 | INFERRED, Score=800, UMLKSK CUI: C1136249 |
| Human | MRX81 | 266678 | mental retardation, X-linked 81 | MRX81 maps to Xp11.2-Xq12 and may be involved in nonspecific X-linked mental retardation |
| Human | ARX | 170302 | aristaless related homeobox | Features confirm the pleiotropic effect of ARX gene duplication in X-linked mental retardation This study reports a novel 24-bp in-frame deletion within exon 2 of the ARX gene in a male child with X-linked mental retardation Considering genotype-phenotype correlation, we suggest screening of the most common mutation, the c.428_451 dup mutation by PCR, in patients with infantile spasm syndrome, Partington syndrome and non-syndromic X-linked mental retardation Results confirm the significant contribution of ARX mutations in the etiology of X-linked mental retardation (XLMR), and imply that screening for c.428-451 dup (24 bp) mutation should be recommended in all patients with suspected XLMR |
| Human | ZCCHC12 | 170261 | zinc finger, CCHC domain containing 12 | data implicate SIZN1 as a candidate gene for X-linked mental retardation and/or as a neurocognitive functional modifier |
| Human | EXOSC6 | 118460 | exosome component 6 | INFERRED, Score=800, UMLKSK CUI: C1136249 |
| Human | TMEM47 | 83604 | transmembrane protein 47 | Single nucleotide polymorphisms, but no disease-associated mutations, were identified in X-linked mental retardation patients |
| Human | ACSBG2 | 81616 | acyl-CoA synthetase bubblegum family member 2 | INFERRED, Score=800, UMLKSK CUI: C1136249 |
| Human | TDRD3 | 81550 | tudor domain containing 3 | INFERRED, Score=800, UMLKSK CUI: C1136249 |
| Human | NXF5 | 55998 | nuclear RNA export factor 5 | Mutations of the NXF5 gene is associated with X-linked mental retardation |
| Human | PRPF40A | 55660 | PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) | INFERRED, Score=800, UMLKSK CUI: C1136249 |
| Human | PTPN22 | 26191 | protein tyrosine phosphatase, non-receptor type 22 (lymphoid) | INFERRED, Score=800, UMLKSK CUI: C1136249 |
| Human | FTSJ1 | 24140 | FtsJ RNA methyltransferase homolog 1 (E. coli) | Results suggest a positive association between genetic variants and nonsyndromic X-linked mental retardation in young male subjects in the Chinese Han population identified a novel FTSJ1 mutation in an X-linked mental retardation family through mutation screening of a cohort of 73 unrelated Japanese male probands with MR |
| Human | DICER1 | 23405 | dicer 1, ribonuclease type III | INFERRED, Score=800, UMLKSK CUI: C1136249 |
| Human | CLEC16A | 23274 | C-type lectin domain family 16, member A | INFERRED, Score=800, UMLKSK CUI: C1136249 |
| Human | ACSBG1 | 23205 | acyl-CoA synthetase bubblegum family member 1 | INFERRED, Score=800, UMLKSK CUI: C1136249 |
| Human | PHF8 | 23133 | PHD finger protein 8 | deletion of the PHF8 gene is associated with the X-linked mental retardation Siderius-Hamel syndrome and the larger size of the Xp11.22 deletion including genes FAM120C and WNK3 may be involved in the pathogenesis of autism an important function of PHF8 is in midline formation and in the development of cognitive abilities, and may have a role in X linked mental retardation associated with cleft lip/palate A novel missense mutation c.836C>T of the PHF8 gene was identified in a Finnish family with multiple-affected male patients with X-linked mental retardation |
| Human | NTNG1 | 22854 | netrin G1 | INFERRED, Score=800, UMLKSK CUI: C1136249 |
| Human | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein-like 1 | IL1RAPL1 plays an important role in the etiology of X-linked mental retardation |
| Human | SLC9A6 | 10479 | solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6 | Mutations in SLC9A6 cause X-linked mental retardation;males with findings suggestive of unexplained Angelman syndrome should be considered as potential candidates for SLC9A6 mutations |
