Rare disease: Autosomal dominant non-syndromic intellectual disability (Orphanet code 178469)
Associated genes:
Name: potassium voltage-gated channel subfamily Q member 2
Symbol: KCNQ2
Synonyms: lang: en
text: BFNC
lang: en
text: ENB1
lang: en
text: HNSPC
lang: en
text: KCNA11
lang: en
text: Kv7.2
GeneType: Name: gene with protein product
Name: erb-b2 receptor tyrosine kinase 4
Symbol: ERBB4
Synonyms: lang: en
text: ALS19
lang: en
text: HER4
lang: en
text: human epidermal growth factor receptor 4
GeneType: Name: gene with protein product
Name: BR serine/threonine kinase 2
Symbol: BRSK2
Synonyms: lang: en
text: PEN11B
lang: en
text: SAD-A
lang: en
text: brain selective kinase 2
lang: en
text: serine/threonine kinase 29
GeneType: Name: gene with protein product
Name: mediator complex subunit 12L
Symbol: MED12L
Synonyms: lang: en
text: KIAA1635
lang: en
text: TNRC11L
lang: en
text: TRALP
lang: en
text: TRALPUSH
GeneType: Name: gene with protein product
Name: solute carrier family 6 member 1
Symbol: SLC6A1
Synonyms: lang: en
text: GABA transporter 1
lang: en
text: GABATHG
lang: en
text: GABATR
lang: en
text: GAT-1
lang: en
text: GAT1
lang: en
text: Sodium- and chloride-dependent GABA transporter 1
lang: en
text: hGAT-1
GeneType: Name: gene with protein product
Name: SET domain containing 1B, histone lysine methyltransferase
Symbol: SETD1B
Synonyms: lang: en
text: KIAA1076
lang: en
text: KMT2G
lang: en
text: Set1B
GeneType: Name: gene with protein product
Name: clathrin heavy chain
Symbol: CLTC
Synonyms: lang: en
text: Hc
GeneType: Name: gene with protein product
Name: intersectin 1
Symbol: ITSN1
Synonyms: lang: en
text: MGC134948
lang: en
text: MGC134949
lang: en
text: SH3 domain protein-1A
lang: en
text: SH3P17
lang: en
text: Src homology 3 domain-containing protein
lang: en
text: human intersectin-SH3 domain-containing protein SH3P17
GeneType: Name: gene with protein product
Name: prickle planar cell polarity protein 2
Symbol: PRICKLE2
Synonyms: lang: en
text: DKFZp686D143
GeneType: Name: gene with protein product
Name: chromosome alignment maintaining phosphoprotein 1
Symbol: CHAMP1
Synonyms: lang: en
text: CAMP
lang: en
text: CHAMP
lang: en
text: chromosome alignment-maintaining phosphoprotein
GeneType: Name: gene with protein product
Name: HIVEP zinc finger 2
Symbol: HIVEP2
Synonyms: lang: en
text: HIV-EP2
lang: en
text: MBP-2
lang: en
text: MIBP1
lang: en
text: Schnurri-2
lang: en
text: ZAS2
lang: en
text: ZNF40B
lang: en
text: c-myc intron binding protein 1
GeneType: Name: gene with protein product
Name: lysine demethylase 5B
Symbol: KDM5B
Synonyms: lang: en
text: CT31
lang: en
text: PLU-1
lang: en
text: PPP1R98
lang: en
text: RBBP2H1A
lang: en
text: cancer/testis antigen 31
lang: en
text: protein phosphatase 1, regulatory subunit 98
GeneType: Name: gene with protein product
Name: gamma-aminobutyric acid type B receptor subunit 1
Symbol: GABBR1
Synonyms: lang: en
text: GABA-B receptor
lang: en
text: GPRC3A
lang: en
text: hGB1a
GeneType: Name: gene with protein product
Name: dihydropyrimidinase like 2
Symbol: DPYSL2
Synonyms: lang: en
text: CRMP2
lang: en
text: DHPRP2
lang: en
text: DRP-2
lang: en
text: DRP2
GeneType: Name: gene with protein product
Name: SET nuclear proto-oncogene
Symbol: SET
Synonyms: lang: en
text: 2PP2A
lang: en
text: HLA-DR-associated protein II
lang: en
text: IGAAD
lang: en
text: IPP2A2
lang: en
text: PHAPII
lang: en
text: TAF-I
lang: en
text: TAF-IBETA
lang: en
text: Template-Activating Factor-I
lang: en
text: Template-Activating Factor-I, chromatin remodelling factor
lang: en
text: chromatin remodelling factor
lang: en
text: inhibitor of granzyme A-activated DNase
lang: en
text: protein phosphatase type 2A inhibitor
GeneType: Name: gene with protein product
Name: ADP ribosylation factor 3
Symbol: ARF3
Synonyms: lang: en
text: small GTP binding protein
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel subunit alpha1 I
Symbol: CACNA1I
Synonyms: lang: en
text: Cav3.3
lang: en
text: Voltage-dependent T-type calcium channel subunit alpha-1I
lang: en
text: Voltage-gated calcium channel subunit alpha Cav3.3
GeneType: Name: gene with protein product
Name: RAB11A, member RAS oncogene family
Symbol: RAB11A
Synonyms: lang: en
text: YL8
GeneType: Name: gene with protein product
Name: protein phosphatase 3 catalytic subunit alpha
Symbol: PPP3CA
Synonyms: lang: en
text: CNA1
lang: en
text: PPP2B
lang: en
text: calcineurin A alpha
lang: en
text: protein phosphatase 2B, catalytic subunit, alpha isoform
GeneType: Name: gene with protein product
Name: glutamate ionotropic receptor AMPA type subunit 1
Symbol: GRIA1
Synonyms: lang: en
text: AMPA receptor subunit GluA1
lang: en
text: GLURA
lang: en
text: GluA1
lang: en
text: Glutamate receptor 1
GeneType: Name: gene with protein product
Name: potassium voltage-gated channel subfamily Q member 5
Symbol: KCNQ5
Synonyms: lang: en
text: Kv7.5
GeneType: Name: gene with protein product
Name: zinc finger MYND-type containing 11
Symbol: ZMYND11
Synonyms: lang: en
text: BRAM1
lang: en
text: BS69
GeneType: Name: gene with protein product
Name: delta like canonical Notch ligand 1
Symbol: DLL1
GeneType: Name: gene with protein product
Name: sodium voltage-gated channel alpha subunit 8
Symbol: SCN8A
Synonyms: lang: en
text: CIAT
lang: en
text: CerIII
lang: en
text: NaCh6
lang: en
text: Nav1.6
lang: en
text: PN4
GeneType: Name: gene with protein product
Name: TAO kinase 1
Symbol: TAOK1
Synonyms: lang: en
text: FLJ14314
lang: en
text: KIAA1361
lang: en
text: MAP3K16
lang: en
text: MARK kinase
lang: en
text: MARKK
lang: en
text: PSK2
lang: en
text: TAO1
lang: en
text: hKFC-B
lang: en
text: hTAOK1
lang: en
text: prostate-derived sterile 20-like kinase 2
lang: en
text: thousand and one amino acid protein kinase 1
GeneType: Name: gene with protein product
Name: transient receptor potential cation channel subfamily M member 3
Symbol: TRPM3
Synonyms: lang: en
text: GON-2
lang: en
text: KIAA1616
lang: en
text: LTRPC3
lang: en
text: melastatin 2
GeneType: Name: gene with protein product
Name: neurobeachin
Symbol: NBEA
Synonyms: lang: en
text: BCL8B
lang: en
text: FLJ10197
lang: en
text: KIAA1544
lang: en
text: LYST2
GeneType: Name: gene with protein product
Name: capicua transcriptional repressor
Symbol: CIC
Synonyms: lang: en
text: KIAA0306
GeneType: Name: gene with protein product
Name: casein kinase 2 beta
Symbol: CSNK2B
Synonyms: lang: en
text: Ckb1
lang: en
text: Ckb2
GeneType: Name: gene with protein product
Name: ASH1 like histone lysine methyltransferase
Symbol: ASH1L
Synonyms: lang: en
text: ASH1
lang: en
text: ASH1L1
lang: en
text: KMT2H
lang: en
text: huASH1
GeneType: Name: gene with protein product
Name: semaphorin 6B
Symbol: SEMA6B
Synonyms: lang: en
text: SEM-SEMA-Z
lang: en
text: SEMA-VIB
lang: en
text: Sema VIb
lang: en
text: semaZ
lang: en
text: semaphorin VIB
lang: en
text: semaphorin Z
GeneType: Name: gene with protein product
Name: cut like homeobox 1
Symbol: CUX1
Synonyms: lang: en
text: CASP
lang: en
text: CDP
lang: en
text: CDP/Cut
lang: en
text: CDP/Cux
lang: en
text: CDP1
lang: en
text: CUT
lang: en
text: CUX
lang: en
text: CUX1 gene Alternatively Spliced Product
lang: en
text: Clox
lang: en
text: Cux/CDP
lang: en
text: GOLIM6
lang: en
text: golgi integral membrane protein 6
GeneType: Name: gene with protein product
Name: tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta
Symbol: YWHAZ
Synonyms: lang: en
text: 14-3-3 delta
lang: en
text: 14-3-3 zeta
lang: en
text: 14-3-3-zeta
lang: en
text: KCIP-1
GeneType: Name: gene with protein product
Name: transcription factor 4
Symbol: TCF4
Synonyms: lang: en
text: E2-2
lang: en
text: ITF2
lang: en
text: SEF2-1B
lang: en
text: SL3-3 enhancer factor 2
lang: en
text: bHLHb19
lang: en
text: class B basic helix-loop-helix protein 19
lang: en
text: immunoglobulin transcription factor 2
GeneType: Name: gene with protein product
Name: kirre like nephrin family adhesion molecule 3
Symbol: KIRREL3
Synonyms: lang: en
text: KIAA1867
lang: en
text: KIRRE
lang: en
text: NEPH2
GeneType: Name: gene with protein product
Name: dedicator of cytokinesis 8
Symbol: DOCK8
Synonyms: lang: en
text: FLJ00026
lang: en
text: FLJ00152
lang: en
text: FLJ00346
lang: en
text: ZIR8
GeneType: Name: gene with protein product
Name: methyl-CpG binding domain protein 5
Symbol: MBD5
Synonyms: lang: en
text: FLJ11113
lang: en
text: KIAA1461
GeneType: Name: gene with protein product
Name: glutamate ionotropic receptor NMDA type subunit 2B
Symbol: GRIN2B
Synonyms: lang: en
text: GluN2B
lang: en
text: NR2B
GeneType: Name: gene with protein product
Name: cadherin 15
Symbol: CDH15
GeneType: Name: gene with protein product
Name: kinesin family member 1A
Symbol: KIF1A
Synonyms: lang: en
text: UNC104
GeneType: Name: gene with protein product
Name: glutamate ionotropic receptor NMDA type subunit 1
Symbol: GRIN1
Synonyms: lang: en
text: GluN1
lang: en
text: NR1
GeneType: Name: gene with protein product
Name: dynein cytoplasmic 1 heavy chain 1
Symbol: DYNC1H1
Synonyms: lang: en
text: CMT2O
lang: en
text: DHC1
lang: en
text: Dnchc1
lang: en
text: HL-3
lang: en
text: p22
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel auxiliary subunit gamma 2
Symbol: CACNG2
Synonyms: lang: en
text: MGC138502
lang: en
text: MGC138504
lang: en
text: Stargazin
lang: en
text: stargazin
GeneType: Name: gene with protein product
Name: erythrocyte membrane protein band 4.1 like 1
Symbol: EPB41L1
Synonyms: lang: en
text: 4.1N
lang: en
text: KIAA0338
GeneType: Name: gene with protein product
Name: DEAF1 transcription factor
Symbol: DEAF1
Synonyms: lang: en
text: NUDR
lang: en
text: SPN
lang: en
text: ZMYND5
GeneType: Name: gene with protein product
Name: eukaryotic translation elongation factor 1 alpha 2
Symbol: EEF1A2
Synonyms: lang: en
text: EEF1AL
lang: en
text: HS1
GeneType: Name: gene with protein product
Name: calcium/calmodulin dependent protein kinase II alpha
Symbol: CAMK2A
Synonyms: lang: en
text: CaM kinase II alpha subunit
lang: en
text: CaM-kinase II alpha chain
lang: en
text: CaMK-II alpha subunit
lang: en
text: CaMKIINalpha
lang: en
text: CaMKIIa
lang: en
text: KIAA0968
lang: en
text: calcium/calmodulin-dependent protein kinase II alpha-B subunit
lang: en
text: calcium/calmodulin-dependent protein kinase type II alpha chain
GeneType: Name: gene with protein product
Name: calcium/calmodulin dependent protein kinase II beta
Symbol: CAMK2B
Synonyms: lang: en
text: CAM2
lang: en
text: CAMK2
lang: en
text: CaM kinase II beta subunit
lang: en
text: CaM-kinase II beta chain
lang: en
text: CaMKIIß
lang: en
text: calcium/calmodulin-dependent protein kinase type II beta chain
lang: en
text: proline rich calmodulin-dependent protein kinase
GeneType: Name: gene with protein product