Rare disease: Non-specific syndromic intellectual disability (Orphanet code 528084)
Associated genes:
Name: zinc finger MIZ-type containing 1
Symbol: ZMIZ1
Synonyms: lang: en
text: FLJ13541
lang: en
text: KIAA1224
lang: en
text: MIZ
lang: en
text: RP11-519K18.1
lang: en
text: Zimp10
lang: en
text: hZIMP10
GeneType: Name: gene with protein product
Name: pseudouridine synthase 7
Symbol: PUS7
Synonyms: lang: en
text: FLJ20485
GeneType: Name: gene with protein product
Name: trafficking protein particle complex subunit 4
Symbol: TRAPPC4
Synonyms: lang: en
text: PTD009
lang: en
text: SBDN
lang: en
text: TRS23
GeneType: Name: gene with protein product
Name: mannosidase alpha class 2C member 1
Symbol: MAN2C1
Synonyms: lang: en
text: Alpha-mannosidase 2C1
lang: en
text: cytosolic alpha-mannosidase
GeneType: Name: gene with protein product
Name: BRCA1 associated protein 1
Symbol: BAP1
Synonyms: lang: en
text: KIAA0272
lang: en
text: UCHL2
lang: en
text: hucep-6
lang: en
text: ubiquitin carboxy-terminal hydrolase
GeneType: Name: gene with protein product
Name: thyroid hormone receptor interactor 12
Symbol: TRIP12
Synonyms: lang: en
text: E3 ubiquitin-protein ligase for Arf
lang: en
text: KIAA0045
lang: en
text: TRIPC
lang: en
text: ULF
GeneType: Name: gene with protein product
Name: zinc finger protein 526
Symbol: ZNF526
Synonyms: lang: en
text: KIAA1951
lang: en
text: MGC4267
GeneType: Name: gene with protein product
Name: BCL6 corepressor like 1
Symbol: BCORL1
Synonyms: lang: en
text: BCoR-L1
lang: en
text: FLJ11362
GeneType: Name: gene with protein product
Name: chromodomain helicase DNA binding protein 5
Symbol: CHD5
GeneType: Name: gene with protein product
Name: bromodomain and WD repeat domain containing 3
Symbol: BRWD3
Synonyms: lang: en
text: FLJ38568
lang: en
text: MRX93
GeneType: Name: gene with protein product
Name: T-box brain transcription factor 1
Symbol: TBR1
GeneType: Name: gene with protein product
Name: argonaute RISC component 1
Symbol: AGO1
Synonyms: lang: en
text: argonaute 1
lang: en
text: hAGO1
GeneType: Name: gene with protein product
Name: lysine methyltransferase 2E (inactive)
Symbol: KMT2E
Synonyms: lang: en
text: HDCMC04P
lang: en
text: SETD5B
GeneType: Name: gene with protein product
Name: small vasohibin binding protein
Symbol: SVBP
Synonyms: lang: en
text: MGC45441
GeneType: Name: gene with protein product
Name: ceramide transporter 1
Symbol: CERT1
Synonyms: lang: en
text: CERT
lang: en
text: GPBP
lang: en
text: STARD11
lang: en
text: StAR-related lipid transfer (START) domain containing 11
lang: en
text: ceramide transporter
GeneType: Name: gene with protein product
Name: F-box and WD repeat domain containing 11
Symbol: FBXW11
Synonyms: lang: en
text: BTRC2
lang: en
text: BTRCP2
lang: en
text: Fbw11
lang: en
text: Fbw1b
lang: en
text: Hos
lang: en
text: KIAA0696
GeneType: Name: gene with protein product
Name: ankyrin repeat domain 17
Symbol: ANKRD17
Synonyms: lang: en
text: FLJ22206
lang: en
text: GTAR
lang: en
text: KIAA0697
lang: en
text: MASK2
lang: en
text: NY-BR-16
GeneType: Name: gene with protein product
Name: ER membrane protein complex subunit 10
Symbol: EMC10
Synonyms: lang: en
text: HSM1
lang: en
text: HSS1
lang: en
text: INM02
lang: en
text: hematopoietic signal peptide-containing membrane domain-containing 1
lang: en
text: hematopoietic signal peptide-containing secreted 1
GeneType: Name: gene with protein product
Name: BCAS3 microtubule associated cell migration factor
Symbol: BCAS3
Synonyms: lang: en
text: FLJ20128
lang: en
text: PHAF2
lang: en
text: Rudhira
lang: en
text: phagophore assembly factor 2
GeneType: Name: gene with protein product
Name: spectrin beta, non-erythrocytic 1
Symbol: SPTBN1
Synonyms: lang: en
text: Beta-II spectrin
lang: en
text: Fodrin beta chain
GeneType: Name: gene with protein product
Name: LMBR1 domain containing 2
Symbol: LMBRD2
Synonyms: lang: en
text: DKFZp434H2226
GeneType: Name: gene with protein product
Name: tRNA methyltransferase 1
Symbol: TRMT1
Synonyms: lang: en
text: FLJ20244
lang: en
text: TRM1
GeneType: Name: gene with protein product
Name: cyclin dependent kinase 8
Symbol: CDK8
GeneType: Name: gene with protein product
Name: heterogeneous nuclear ribonucleoprotein C
Symbol: HNRNPC
GeneType: Name: gene with protein product
Name: ATPase H+ transporting V0 subunit a1
Symbol: ATP6V0A1
Synonyms: lang: en
text: Stv1
lang: en
text: V-ATPase subunit a1
lang: en
text: Vph1
lang: en
text: a1
lang: en
text: vacuolar proton pump subunit 1
GeneType: Name: gene with protein product
Name: lysine methyltransferase 5B
Symbol: KMT5B
GeneType: Name: gene with protein product
Name: TATA-box binding protein associated factor 4
Symbol: TAF4
Synonyms: lang: en
text: TAFII130
lang: en
text: TAFII135
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 4A2
Symbol: EIF4A2
Synonyms: lang: en
text: BM-010
lang: en
text: DDX2B
lang: en
text: EIF4A
GeneType: Name: gene with protein product
Name: SR-related CTD associated factor 4
Symbol: SCAF4
Synonyms: lang: en
text: DKFZp434E098
lang: en
text: KIAA1172
lang: en
text: SRA4
GeneType: Name: gene with protein product
Name: cell cycle associated protein 1
Symbol: CAPRIN1
Synonyms: lang: en
text: RNG105
lang: en
text: caprin-1
lang: en
text: cytoplasmic activation/proliferation-associated protein-1
GeneType: Name: gene with protein product
Name: protein phosphatase 2 catalytic subunit alpha
Symbol: PPP2CA
Synonyms: lang: en
text: PP2AC
lang: en
text: PP2Calpha
lang: en
text: protein phosphatase 2A catalytic subunit, alpha isoform
GeneType: Name: gene with protein product
Name: transmembrane protein 222
Symbol: TMEM222
Synonyms: lang: en
text: DKFZP564D0478
GeneType: Name: gene with protein product
Name: OTU deubiquitinase 5
Symbol: OTUD5
Synonyms: lang: en
text: DKFZp761A052
lang: en
text: DUBA
lang: en
text: deubiquitinase A
GeneType: Name: gene with protein product
Name: tet methylcytosine dioxygenase 3
Symbol: TET3
Synonyms: lang: en
text: MGC22014
lang: en
text: hCG_40738
lang: en
text: ten-eleven translocation 3
GeneType: Name: gene with protein product
Name: siah E3 ubiquitin protein ligase 1
Symbol: SIAH1
Synonyms: lang: en
text: hSIAH1
GeneType: Name: gene with protein product
Name: Rac family small GTPase 3
Symbol: RAC3
GeneType: Name: gene with protein product
Name: family with sequence similarity 50 member A
Symbol: FAM50A
Synonyms: lang: en
text: 9F
lang: en
text: DNA segment on chromosome X (unique) 9928 expressed sequence
lang: en
text: DXS9928E
lang: en
text: HXC-26
lang: en
text: XAP5
GeneType: Name: gene with protein product
Name: zinc finger MYM-type containing 2
Symbol: ZMYM2
Synonyms: lang: en
text: FIM
lang: en
text: MYM
lang: en
text: RAMP
GeneType: Name: gene with protein product
Name: adaptor related protein complex 1 subunit gamma 1
Symbol: AP1G1
Synonyms: lang: en
text: gamma1-adaptin
GeneType: Name: gene with protein product
Name: ATPase phospholipid transporting 9A (putative)
Symbol: ATP9A
Synonyms: lang: en
text: ATPIIA
lang: en
text: KIAA0611
GeneType: Name: gene with protein product
Name: deoxyhypusine hydroxylase
Symbol: DOHH
Synonyms: lang: en
text: MGC4293
GeneType: Name: gene with protein product
Name: adhesion G protein-coupled receptor L1
Symbol: ADGRL1
Synonyms: lang: en
text: CIRL1
lang: en
text: KIAA0821
lang: en
text: LEC2
lang: en
text: calcium-independent alpha-latrotoxin receptor 1
GeneType: Name: gene with protein product
Name: casein kinase 2 alpha 1
Symbol: CSNK2A1
Synonyms: lang: en
text: Casein kinase II subunit alpha
lang: en
text: Cka1
lang: en
text: Cka2
GeneType: Name: gene with protein product
Name: SATB homeobox 1
Symbol: SATB1
GeneType: Name: gene with protein product
Name: trinucleotide repeat containing adaptor 6B
Symbol: TNRC6B
Synonyms: lang: en
text: KIAA1093
GeneType: Name: gene with protein product
Name: cullin 3
Symbol: CUL3
GeneType: Name: gene with protein product
Name: Snf2 related CREBBP activator protein
Symbol: SRCAP
Synonyms: lang: en
text: DOMO1
lang: en
text: Domino homolog 1 (Drosophila)
lang: en
text: EAF1
lang: en
text: KIAA0309
lang: en
text: SWR1
lang: en
text: Swi2/Snf2-related ATPase homolog (S. cerevisiae)
lang: en
text: domino homolog 1 (Drosophila)
GeneType: Name: gene with protein product
Name: ring finger protein 2
Symbol: RNF2
Synonyms: lang: en
text: BAP-1
lang: en
text: BAP1
lang: en
text: DING
lang: en
text: HIPI3
lang: en
text: RING1B
lang: en
text: RING2
GeneType: Name: gene with protein product
Name: synaptotagmin binding cytoplasmic RNA interacting protein
Symbol: SYNCRIP
Synonyms: lang: en
text: GRY-RBP
lang: en
text: HNRNPQ
lang: en
text: HNRPQ1
lang: en
text: NSAP1
lang: en
text: dJ3J17.2
lang: en
text: heterogeneous nuclear ribonucleoprotein Q
lang: en
text: hnRNP-Q
GeneType: Name: gene with protein product
Name: G protein subunit beta 2
Symbol: GNB2
Synonyms: lang: en
text: G protein, beta-2 subunit
lang: en
text: guanine nucleotide-binding protein G(I)/G(S)/G(T) beta subunit 2
lang: en
text: signal-transducing guanine nucleotide-binding regulatory protein beta subunit
lang: en
text: transducin beta chain 2
GeneType: Name: gene with protein product
Name: pre-mRNA processing factor 8
Symbol: PRPF8
Synonyms: lang: en
text: PRPC8
lang: en
text: Prp8
lang: en
text: SNRNP220
lang: en
text: hPrp8
GeneType: Name: gene with protein product
Name: neuronal cell adhesion molecule
Symbol: NRCAM
Synonyms: lang: en
text: Bravo
lang: en
text: KIAA0343
lang: en
text: NgCAM-related cell adhesion molecule
GeneType: Name: gene with protein product
Name: H4 clustered histone 5
Symbol: H4C5
Synonyms: lang: en
text: H4/j
GeneType: Name: gene with protein product
Name: TIAM Rac1 associated GEF 1
Symbol: TIAM1
GeneType: Name: gene with protein product
Name: calcium voltage-gated channel subunit alpha1 C
Symbol: CACNA1C
Synonyms: lang: en
text: CACH2
lang: en
text: CACN2
lang: en
text: Cav1.2
lang: en
text: LQT8
lang: en
text: TS
GeneType: Name: gene with protein product
Name: WD repeat and FYVE domain containing 3
Symbol: WDFY3
Synonyms: lang: en
text: ALFY
lang: en
text: KIAA0993
lang: en
text: ZFYVE25
GeneType: Name: gene with protein product
Name: EBF transcription factor 3
Symbol: EBF3
Synonyms: lang: en
text: COE3
lang: en
text: DKFZp667B0210
lang: en
text: Transcription factor COE3
GeneType: Name: gene with protein product
Name: netrin G1
Symbol: NTNG1
Synonyms: lang: en
text: KIAA0976
lang: en
text: Lmnt1
lang: en
text: NetG1
lang: en
text: Netrin-G1
lang: en
text: NetrinG1
lang: en
text: laminet-1
lang: en
text: netrin G1f
GeneType: Name: gene with protein product
Name: CCR4-NOT transcription complex subunit 3
Symbol: CNOT3
Synonyms: lang: en
text: KIAA0691
lang: en
text: LENG2
lang: en
text: NOT3 (negative regulator of transcription 3, yeast) homolog
lang: en
text: NOT3H
GeneType: Name: gene with protein product
Name: ubiquitin protein ligase E3 component n-recognin 7
Symbol: UBR7
GeneType: Name: gene with protein product
Name: WASP family member 1
Symbol: WASF1
Synonyms: lang: en
text: KIAA0269
lang: en
text: SCAR1
lang: en
text: WAVE
lang: en
text: WAVE1
GeneType: Name: gene with protein product
Name: zinc finger protein 142
Symbol: ZNF142
Synonyms: lang: en
text: KIAA0236
lang: en
text: pHZ-49
GeneType: Name: gene with protein product
Name: SET domain containing 1A, histone lysine methyltransferase
Symbol: SETD1A
Synonyms: lang: en
text: KIAA0339
lang: en
text: KMT2F
lang: en
text: SET1A
lang: en
text: Set1
GeneType: Name: gene with protein product
Name: MAP kinase activating death domain
Symbol: MADD
Synonyms: lang: en
text: DENN
lang: en
text: IG20
lang: en
text: Insuloma-Glucagonoma protein 20
lang: en
text: KIAA0358
lang: en
text: RAB3GEP
lang: en
text: differentially expressed in normal and neoplastic cells
GeneType: Name: gene with protein product
Name: netrin G2
Symbol: NTNG2
Synonyms: lang: en
text: KIAA1857
lang: en
text: Lmnt2
lang: en
text: Netrin-G2
lang: en
text: NetrinG2
lang: en
text: laminet-2
GeneType: Name: gene with protein product
Name: H4 clustered histone 3
Symbol: H4C3
Synonyms: lang: en
text: H4/g
lang: en
text: dJ221C16.1
GeneType: Name: gene with protein product
Name: coiled-coil domain containing 32
Symbol: CCDC32
Synonyms: lang: en
text: MGC20481
GeneType: Name: gene with protein product
Name: protein associated with LIN7 1, MAGUK p55 family member
Symbol: PALS1
Synonyms: lang: en
text: FLJ12615
lang: en
text: protein associated with Lin-7 1
lang: en
text: stardust
GeneType: Name: gene with protein product
Name: lysine demethylase 4B
Symbol: KDM4B
Synonyms: lang: en
text: KIAA0876
lang: en
text: TDRD14B
lang: en
text: tudor domain containing 14B
GeneType: Name: gene with protein product
Name: actin like 6B
Symbol: ACTL6B
Synonyms: lang: en
text: BAF53B
lang: en
text: SMARCN2
GeneType: Name: gene with protein product
Name: discs large MAGUK scaffold protein 4
Symbol: DLG4
Synonyms: lang: en
text: PSD-95
lang: en
text: PSD95
lang: en
text: SAP-90
lang: en
text: SAP90
GeneType: Name: gene with protein product
Name: DEAD-box helicase 6
Symbol: DDX6
Synonyms: lang: en
text: RCK
lang: en
text: Rck/p54
GeneType: Name: gene with protein product
Name: dihydropyrimidinase like 5
Symbol: DPYSL5
Synonyms: lang: en
text: CRAM
lang: en
text: CRMP-5
lang: en
text: CRMP5
lang: en
text: CV2
lang: en
text: Ulip6
lang: en
text: collapsin response mediator protein 5
GeneType: Name: gene with protein product
Name: mediator complex subunit 27
Symbol: MED27
Synonyms: lang: en
text: CRSP34
lang: en
text: MED3
lang: en
text: TRAP37
GeneType: Name: gene with protein product
Name: 4-hydroxyphenylpyruvate dioxygenase like
Symbol: HPDL
Synonyms: lang: en
text: 4-HPPD-L
lang: en
text: MGC15668
GeneType: Name: gene with protein product
Name: heparan sulfate 2-O-sulfotransferase 1
Symbol: HS2ST1
Synonyms: lang: en
text: KIAA0448
GeneType: Name: gene with protein product
Name: glutamate ionotropic receptor AMPA type subunit 4
Symbol: GRIA4
Synonyms: lang: en
text: GLUR4C
lang: en
text: GLURD
lang: en
text: GluA4
lang: en
text: GluR-4
lang: en
text: GluR-D
lang: en
text: Glutamate receptor 4
GeneType: Name: gene with protein product
Name: mediator complex subunit 13
Symbol: MED13
Synonyms: lang: en
text: KIAA0593
lang: en
text: TRAP240
GeneType: Name: gene with protein product
Name: transcription factor 20
Symbol: TCF20
Synonyms: lang: en
text: AR1
lang: en
text: SPBP
lang: en
text: stromelysin-1 platelet-derived growth factor-responsive element binding protein
GeneType: Name: gene with protein product
Name: transcription factor 7 like 2
Symbol: TCF7L2
Synonyms: lang: en
text: TCF-4
GeneType: Name: gene with protein product
Name: jumonji and AT-rich interaction domain containing 2
Symbol: JARID2
GeneType: Name: gene with protein product
Name: HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1
Symbol: HUWE1
Synonyms: lang: en
text: Ib772
lang: en
text: KIAA0312
lang: en
text: UREB1
GeneType: Name: gene with protein product
Name: protein tyrosine phosphatase non-receptor type 23
Symbol: PTPN23
Synonyms: lang: en
text: DKFZP564F0923
lang: en
text: HD-PTP
lang: en
text: KIAA1471
GeneType: Name: gene with protein product
Name: mitogen-activated protein kinase 8 interacting protein 3
Symbol: MAPK8IP3
Synonyms: lang: en
text: JIP3
lang: en
text: JSAP1
lang: en
text: KIAA1066
lang: en
text: homolog of Drosophila Sunday driver 2
lang: en
text: syd
GeneType: Name: gene with protein product
Name: bromodomain PHD finger transcription factor
Symbol: BPTF
Synonyms: lang: en
text: FAC1
lang: en
text: NURF301
GeneType: Name: gene with protein product
Name: tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2
Symbol: TANC2
Synonyms: lang: en
text: DKFZP564D166
lang: en
text: FLJ10215
lang: en
text: FLJ11824
lang: en
text: KIAA1148
lang: en
text: KIAA1636
lang: en
text: ROLSA
lang: en
text: rolling pebbles homolog B (Drosophila)
lang: en
text: rols
GeneType: Name: gene with protein product
Name: eukaryotic translation initiation factor 5A
Symbol: EIF5A
Synonyms: lang: en
text: EIF-5A
lang: en
text: EIF5A1
lang: en
text: MGC104255
lang: en
text: MGC99547
GeneType: Name: gene with protein product
Name: ER degradation enhancing alpha-mannosidase like protein 3
Symbol: EDEM3
GeneType: Name: gene with protein product
Name: zinc finger protein 699
Symbol: ZNF699
Synonyms: lang: en
text: FLJ38144
lang: en
text: hang
GeneType: Name: gene with protein product
Name: H4 clustered histone 9
Symbol: H4C9
Synonyms: lang: en
text: H4/m
GeneType: Name: gene with protein product
Name: dedicator of cytokinesis 3
Symbol: DOCK3
Synonyms: lang: en
text: KIAA0299
lang: en
text: MOCA
lang: en
text: PBP
GeneType: Name: gene with protein product
Name: N-alpha-acetyltransferase 15, NatA auxiliary subunit
Symbol: NAA15
Synonyms: lang: en
text: FLJ13340
lang: en
text: NATH
lang: en
text: TBDN100
GeneType: Name: gene with protein product
Name: RAR related orphan receptor A
Symbol: RORA
Synonyms: lang: en
text: NR1F1
lang: en
text: Nuclear receptor ROR-alpha
lang: en
text: RAR-related orphan nuclear receptor alpha
lang: en
text: ROR-alpha
lang: en
text: ROR1
lang: en
text: ROR2
lang: en
text: ROR3
lang: en
text: RORa1
lang: en
text: RORalpha
lang: en
text: RZRA
lang: en
text: nuclear receptor subfamily 1 group F member 1
GeneType: Name: gene with protein product
Name: ring finger protein, LIM domain interacting
Symbol: RLIM
Synonyms: lang: en
text: E3 ubiquitin-protein ligase RLIM
lang: en
text: LIM domain interacting ring finger protein
lang: en
text: MGC15161
lang: en
text: NY-REN-43
lang: en
text: ring zinc finger protein NY-REN-43antigen
GeneType: Name: gene with protein product
Name: actin like 6A
Symbol: ACTL6A
Synonyms: lang: en
text: Actl6
lang: en
text: Arp4
lang: en
text: BAF complex 53 kDa subunit
lang: en
text: BAF53A
lang: en
text: BRG1-associated factor
lang: en
text: BRG1-associated factor 53A
lang: en
text: Baf53a
lang: en
text: INO80 complex subunit K
lang: en
text: INO80K
lang: en
text: SMARCN1
lang: en
text: actin-related protein 4
GeneType: Name: gene with protein product
Name: chloride voltage-gated channel 3
Symbol: CLCN3
Synonyms: lang: en
text: CLC3
lang: en
text: ClC-3
GeneType: Name: gene with protein product
Name: argonaute 2, RISC catalytic component
Symbol: AGO2
Synonyms: lang: en
text: LINC00980
lang: en
text: Q10
lang: en
text: argonaute 2
lang: en
text: hAGO2
GeneType: Name: gene with protein product
Name: lysine acetyltransferase 8
Symbol: KAT8
Synonyms: lang: en
text: FLJ14040
lang: en
text: MOF
lang: en
text: ZC2HC8
lang: en
text: hMOF
GeneType: Name: gene with protein product
Name: huntingtin
Symbol: HTT
Synonyms: lang: en
text: IT15
GeneType: Name: gene with protein product
Name: ATPase plasma membrane Ca2+ transporting 1
Symbol: ATP2B1
Synonyms: lang: en
text: PMCA1
lang: en
text: plasma membrane calcium-transporting ATPase 1
GeneType: Name: gene with protein product
Name: plexin A1
Symbol: PLXNA1
Synonyms: lang: en
text: NOV
GeneType: Name: gene with protein product
Name: lysine methyltransferase 2B
Symbol: KMT2B
Synonyms: lang: en
text: CXXC10
lang: en
text: HRX2
lang: en
text: Histone-lysine N-methyltransferase 2B
lang: en
text: KIAA0304
lang: en
text: MLL1B
lang: en
text: MLL2
lang: en
text: MLL4
lang: en
text: TRX2
lang: en
text: WBP7
lang: en
text: myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4
GeneType: Name: gene with protein product
Name: protocadherin gamma subfamily C, 4
Symbol: PCDHGC4
Synonyms: lang: en
text: PCDH-GAMMA-C4
GeneType: Name: Disorder-associated locus
Name: cleavage and polyadenylation specific factor 3
Symbol: CPSF3
Synonyms: lang: en
text: CPSF-73
lang: en
text: CPSF73
lang: en
text: YSH1
GeneType: Name: gene with protein product
Name: tryptophanyl-tRNA synthetase 1
Symbol: WARS1
Synonyms: lang: en
text: IFP53
lang: en
text: tryptophan tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Name: proteasome 26S subunit, non-ATPase 12
Symbol: PSMD12
Synonyms: lang: en
text: Rpn5
lang: en
text: p55
GeneType: Name: gene with protein product