Rare disease: X-linked non-syndromic intellectual disability (Orphanet code 777)
Associated genes:
Name: STING1 ER exit protein 1
Symbol: STEEP1
Synonyms: lang: en
text: FLJ22965
GeneType: Name: gene with protein product
Name: calcium/calmodulin dependent serine protein kinase
Symbol: CASK
Synonyms: lang: en
text: CAGH39
lang: en
text: FGS4
lang: en
text: LIN2
GeneType: Name: gene with protein product
Name: ribosomal protein S6 kinase A3
Symbol: RPS6KA3
Synonyms: lang: en
text: HU-3
lang: en
text: RSK
lang: en
text: RSK2
GeneType: Name: gene with protein product
Name: aristaless related homeobox
Symbol: ARX
Synonyms: lang: en
text: CT121
lang: en
text: EIEE1
lang: en
text: ISSX
lang: en
text: cancer/testis antigen 121
GeneType: Name: gene with protein product
Name: dystrophin
Symbol: DMD
Synonyms: lang: en
text: BMD
lang: en
text: DXS142
lang: en
text: DXS164
lang: en
text: DXS206
lang: en
text: DXS230
lang: en
text: DXS239
lang: en
text: DXS268
lang: en
text: DXS269
lang: en
text: DXS270
lang: en
text: DXS272
lang: en
text: muscular dystrophy, Duchenne and Becker types
GeneType: Name: gene with protein product
Name: FtsJ RNA 2'-O-methyltransferase 1
Symbol: FTSJ1
Synonyms: lang: en
text: CDLIV
lang: en
text: JM23
lang: en
text: SPB1
lang: en
text: TRM7
lang: en
text: TRMT7
lang: en
text: tRNA methyltransferase 7 homolog (S. cerevisiae)
GeneType: Name: gene with protein product
Name: GDP dissociation inhibitor 1
Symbol: GDI1
Synonyms: lang: en
text: FLJ41411
lang: en
text: OPHN2
lang: en
text: RABGDIA
lang: en
text: XAP-4
lang: en
text: mental retardation, X-linked 41
lang: en
text: mental retardation, X-linked 48
lang: en
text: oligophrenin-2
lang: en
text: rab GDP-dissociation inhibitor, alpha
GeneType: Name: gene with protein product
Name: mediator complex subunit 12
Symbol: MED12
Synonyms: lang: en
text: ARC240
lang: en
text: CAGH45
lang: en
text: HOPA
lang: en
text: KIAA0192
lang: en
text: Kohtalo homolog
lang: en
text: Kto
lang: en
text: OKS
lang: en
text: OPA1
lang: en
text: TRAP230
GeneType: Name: gene with protein product
Name: UPF3B regulator of nonsense mediated mRNA decay
Symbol: UPF3B
Synonyms: lang: en
text: HUPF3B
lang: en
text: MRX82
lang: en
text: RENT3B
lang: en
text: UPF3X
GeneType: Name: gene with protein product
Name: angiotensin II receptor type 2
Symbol: AGTR2
Synonyms: lang: en
text: AT2
lang: en
text: MRX88
GeneType: Name: gene with protein product
Name: discs large MAGUK scaffold protein 3
Symbol: DLG3
Synonyms: lang: en
text: KIAA1232
lang: en
text: MRX90
lang: en
text: NE-Dlg
lang: en
text: NEDLG
lang: en
text: PPP1R82
lang: en
text: SAP-102
lang: en
text: SAP102
lang: en
text: neuroendocrine-dlg
lang: en
text: protein phosphatase 1, regulatory subunit 82
lang: en
text: synapse associated protein 102
GeneType: Name: gene with protein product
Name: interleukin 1 receptor accessory protein like 1
Symbol: IL1RAPL1
Synonyms: lang: en
text: IL1R8
lang: en
text: IL1RAPL-1
lang: en
text: OPHN4
lang: en
text: TIGIRR-2
lang: en
text: Three immunoglobulin domain-containing IL-1 receptor-related 2
GeneType: Name: gene with protein product
Name: p21 (RAC1) activated kinase 3
Symbol: PAK3
Synonyms: lang: en
text: bPAK
lang: en
text: hPAK3
GeneType: Name: gene with protein product
Name: tetraspanin 7
Symbol: TSPAN7
Synonyms: lang: en
text: A15
lang: en
text: CD231
lang: en
text: DXS1692E
lang: en
text: TALLA-1
GeneType: Name: gene with protein product
Name: Rac/Cdc42 guanine nucleotide exchange factor 6
Symbol: ARHGEF6
Synonyms: lang: en
text: Cool-2
lang: en
text: Cool2
lang: en
text: KIAA0006
lang: en
text: PAK-interacting exchange factor, alpha
lang: en
text: Rac/Cdc42 guanine exchange factor (GEF) 6
lang: en
text: aPix
lang: en
text: alpha-PIX
lang: en
text: alphaPIX
lang: en
text: rho guanine nucleotide exchange factor 6
GeneType: Name: gene with protein product
Name: zinc finger protein 81
Symbol: ZNF81
Synonyms: lang: en
text: HFZ20
GeneType: Name: gene with protein product
Name: synaptophysin
Symbol: SYP
Synonyms: lang: en
text: MRX96
GeneType: Name: gene with protein product
Name: zinc finger protein 711
Symbol: ZNF711
Synonyms: lang: en
text: CMPX1
lang: en
text: MRX97
lang: en
text: ZNF4
lang: en
text: ZNF5
lang: en
text: Zfp711
lang: en
text: dJ75N13.1
GeneType: Name: gene with protein product
Name: RAB39B, member RAS oncogene family
Symbol: RAB39B
GeneType: Name: gene with protein product
Name: host cell factor C1
Symbol: HCFC1
Synonyms: lang: en
text: CFF
lang: en
text: HCF-1
lang: en
text: HCF1
lang: en
text: MGC70925
lang: en
text: PPP1R89
lang: en
text: VCAF
lang: en
text: VP16-accessory protein
lang: en
text: protein phosphatase 1, regulatory subunit 89
GeneType: Name: gene with protein product
Name: ALG13 UDP-N-acetylglucosaminyltransferase subunit
Symbol: ALG13
Synonyms: lang: en
text: CDG1S
lang: en
text: FLJ23018
lang: en
text: MDS031
lang: en
text: N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase
lang: en
text: TDRD13
lang: en
text: YGL047W
lang: en
text: tudor domain containing 13
GeneType: Name: gene with protein product
Name: midline 2
Symbol: MID2
Synonyms: lang: en
text: FXY2
lang: en
text: MRX101
lang: en
text: RNF60
lang: en
text: TRIM1
GeneType: Name: gene with protein product
Name: patched domain containing 1
Symbol: PTCHD1
Synonyms: lang: en
text: FLJ30296
GeneType: Name: gene with protein product
Name: ubiquitin specific peptidase 9 X-linked
Symbol: USP9X
Synonyms: lang: en
text: DFFRX
lang: en
text: FAF
lang: en
text: FAF-X
lang: en
text: MRX99
lang: en
text: fat facets-like, X-linked
GeneType: Name: gene with protein product
Name: acyl-CoA synthetase long chain family member 4
Symbol: ACSL4
Synonyms: lang: en
text: ACS4
lang: en
text: LACS4
lang: en
text: lignoceroyl-CoA synthase
lang: en
text: long-chain fatty-acid-Coenzyme A ligase 4
GeneType: Name: gene with protein product
Name: methyl-CpG binding protein 2
Symbol: MECP2
GeneType: Name: gene with protein product
Name: IQ motif and Sec7 domain ArfGEF 2
Symbol: IQSEC2
Synonyms: lang: en
text: BRAG1
lang: en
text: IQ-ArfGEF
lang: en
text: KIAA0522
lang: en
text: brefeldin A resistant Arf-guanine nucleotide exchange factor 1
GeneType: Name: gene with protein product
Name: solute carrier family 9 member A7
Symbol: SLC9A7
Synonyms: lang: en
text: NHE-7
lang: en
text: NHE7
lang: en
text: Sodium/hydrogen exchanger 7
GeneType: Name: gene with protein product
Name: connector enhancer of kinase suppressor of Ras 2
Symbol: CNKSR2
Synonyms: lang: en
text: CNK2
lang: en
text: KIAA0902
lang: en
text: KSR2
GeneType: Name: gene with protein product
Name: FERM and PDZ domain containing 4
Symbol: FRMPD4
Synonyms: lang: en
text: KIAA0316
GeneType: Name: gene with protein product
Name: ubiquitin specific peptidase 27 X-linked
Symbol: USP27X
Synonyms: lang: en
text: USP27
GeneType: Name: gene with protein product
Name: chloride voltage-gated channel 4
Symbol: CLCN4
Synonyms: lang: en
text: CLC4
lang: en
text: ClC-4
GeneType: Name: gene with protein product