Rare disease: Autosomal recessive non-syndromic intellectual disability (Orphanet code 88616)
Associated genes:
Name: decapping enzyme, scavenger
Symbol: DCPS
Synonyms: lang: en
text: 5'-(N(7)-methyl 5'-triphosphoguanosine)-[mRNA] diphosphatase
lang: en
text: DCS-1
lang: en
text: DCS1
lang: en
text: HINT-5
lang: en
text: HINT5
lang: en
text: HSL1
lang: en
text: HSPC015
lang: en
text: histidine triad nucleotide binding protein 5
lang: en
text: m7GpppX diphosphatase
GeneType: Name: gene with protein product
Name: beta-1,3-N-acetylgalactosaminyltransferase 2
Symbol: B3GALNT2
Synonyms: lang: en
text: MGC39558
GeneType: Name: gene with protein product
Name: inositol monophosphatase 1
Symbol: IMPA1
Synonyms: lang: en
text: myo-inositol monophosphatase 1
GeneType: Name: gene with protein product
Name: ATP binding cassette subfamily A member 2
Symbol: ABCA2
GeneType: Name: gene with protein product
Name: choline kinase alpha
Symbol: CHKA
Synonyms: lang: en
text: CKI
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: Yip1 interacting factor homolog B, membrane trafficking protein
Symbol: YIF1B
Synonyms: lang: en
text: FinGER8
GeneType: Name: gene with protein product
Name: aminoacyl tRNA synthetase complex interacting multifunctional protein 1
Symbol: AIMP1
Synonyms: lang: en
text: ARS-interacting multifunctional protein 1
lang: en
text: EMAP II
lang: en
text: EMAP-2
lang: en
text: EMAPII
lang: en
text: multisynthetase complex auxiliary component p43
lang: en
text: p43
GeneType: Name: gene with protein product
Name: UFM1 specific peptidase 2
Symbol: UFSP2
Synonyms: lang: en
text: FLJ11200
GeneType: Name: gene with protein product
Name: cereblon
Symbol: CRBN
Synonyms: lang: en
text: MRT2
GeneType: Name: gene with protein product
Name: tumor suppressor candidate 3
Symbol: TUSC3
Synonyms: lang: en
text: MGC13453
lang: en
text: MRT7
lang: en
text: MagT2
lang: en
text: Magnesium uptake/transporter TUSC3
lang: en
text: N33
lang: en
text: OST3A
lang: en
text: SLC58A2
lang: en
text: oligosaccharyltransferase 3 homolog A (S. cerevisiae)
GeneType: Name: gene with protein product
Name: trans-2,3-enoyl-CoA reductase
Symbol: TECR
Synonyms: lang: en
text: MRT14
lang: en
text: TER
lang: en
text: very-long-chain enoyl-CoA reductase
GeneType: Name: gene with protein product
Name: glutamate ionotropic receptor kainate type subunit 2
Symbol: GRIK2
Synonyms: lang: en
text: EAA4
lang: en
text: GLUK6
lang: en
text: GluK2
lang: en
text: GluR-6
lang: en
text: MRT6
lang: en
text: excitatory amino acid receptor 4
GeneType: Name: gene with protein product
Name: WASH complex subunit 4
Symbol: WASHC4
Synonyms: lang: en
text: SWIP
lang: en
text: strumpellin and WASH-interacting protein
GeneType: Name: gene with protein product
Name: trafficking protein particle complex subunit 9
Symbol: TRAPPC9
Synonyms: lang: en
text: IKBKBBP
lang: en
text: KIAA1882
lang: en
text: MRT13
lang: en
text: NIBP
lang: en
text: T1
lang: en
text: TRAPP 120 kDa subunit
lang: en
text: TRS120
lang: en
text: tularik gene 1
GeneType: Name: gene with protein product
Name: serine protease 12
Symbol: PRSS12
Synonyms: lang: en
text: BSSP-3
lang: en
text: MRT1
lang: en
text: brain-specific serine protease 3
lang: en
text: mental retardation, autosomal recessive 1
lang: en
text: motopsin
lang: en
text: neurotrypsin
GeneType: Name: gene with protein product
Name: mediator complex subunit 23
Symbol: MED23
Synonyms: lang: en
text: CRSP130
lang: en
text: DRIP130
lang: en
text: Sur2
GeneType: Name: gene with protein product
Name: ST3 beta-galactoside alpha-2,3-sialyltransferase 3
Symbol: ST3GAL3
Synonyms: lang: en
text: N-acetyllactosaminide alpha-2,3-sialyltransferase
lang: en
text: ST3Gal III
GeneType: Name: gene with protein product
Name: CASP2 and RIPK1 domain containing adaptor with death domain
Symbol: CRADD
Synonyms: lang: en
text: RAIDD
lang: en
text: RIP-associated ICH1/CED3-homologous protein with death domain
GeneType: Name: gene with protein product
Name: zinc finger CCCH-type containing 14
Symbol: ZC3H14
Synonyms: lang: en
text: FLJ11806
lang: en
text: NY-REN-37
lang: en
text: UKp68
GeneType: Name: gene with protein product
Name: NOP2/Sun RNA methyltransferase 2
Symbol: NSUN2
Synonyms: lang: en
text: FLJ20303
lang: en
text: Misu
lang: en
text: Myc-induced SUN-domain-containing protein
lang: en
text: RNA cytosine C(5)-methyltransferase NSUN2
lang: en
text: SAKI
lang: en
text: TRM4
lang: en
text: tRNA methyltransferase 4 homolog (S. cerevisiae)
GeneType: Name: gene with protein product
Name: lines homolog 1
Symbol: LINS1
Synonyms: lang: en
text: WINS1
GeneType: Name: gene with protein product
Name: post-GPI attachment to proteins inositol deacylase 1
Symbol: PGAP1
Synonyms: lang: en
text: Bst1
lang: en
text: FLJ12377
lang: en
text: GPI inositol-deacylase
lang: en
text: SPG67
GeneType: Name: gene with protein product
Name: methyltransferase 23, arginine
Symbol: METTL23
Synonyms: lang: en
text: LOC124512
GeneType: Name: gene with protein product
Name: CAP-Gly domain containing linker protein 1
Symbol: CLIP1
Synonyms: lang: en
text: CLIP
lang: en
text: CLIP-170
lang: en
text: CLIP170
lang: en
text: CYLN1
lang: en
text: restin
GeneType: Name: gene with protein product
Name: F-box protein 31
Symbol: FBXO31
Synonyms: lang: en
text: FBX14
lang: en
text: FBXO14
lang: en
text: Fbx31
lang: en
text: MGC15419
GeneType: Name: gene with protein product
Name: N-deacetylase and N-sulfotransferase 1
Symbol: NDST1
Synonyms: lang: en
text: N-Deacetylase-N-sulfotransferase 1
lang: en
text: NST1
lang: en
text: [Heparan sulfate]-glucosamine N-sulfotransferase 1
lang: en
text: heparan sulfate/heparin GlcNAc N-deacetylase/GlcN N-sulfotransferase 1
GeneType: Name: gene with protein product
Name: formin 2
Symbol: FMN2
GeneType: Name: gene with protein product
Name: enhancer of mRNA decapping 3
Symbol: EDC3
Synonyms: lang: en
text: FLJ21128
lang: en
text: LSM16
lang: en
text: LSM16 homolog (EDC3, S. cerevisiae)
lang: en
text: YJEFN2
lang: en
text: hYjeF_N2-15q23
GeneType: Name: gene with protein product
Name: histamine N-methyltransferase
Symbol: HNMT
Synonyms: lang: en
text: HMT
GeneType: Name: gene with protein product
Name: ezrin
Symbol: EZR
Synonyms: lang: en
text: cytovillin 2
GeneType: Name: gene with protein product
Name: lectin, mannose binding 2 like
Symbol: LMAN2L
Synonyms: lang: en
text: DKFZp564L2423
lang: en
text: VIP36-like
lang: en
text: VIPL
GeneType: Name: gene with protein product
Name: nuclear export mediator factor
Symbol: NEMF
Synonyms: lang: en
text: FLJ10051
lang: en
text: NY-CO-1
lang: en
text: New-York Colon 1
lang: en
text: RQC2
lang: en
text: Ribosome quality control complex subunit NEMF
lang: en
text: caliban homolog (Drosophila)
GeneType: Name: gene with protein product
Name: glutamate metabotropic receptor 7
Symbol: GRM7
Synonyms: lang: en
text: GLUR7
lang: en
text: GPRC1G
lang: en
text: MGLUR7
lang: en
text: PPP1R87
lang: en
text: mGlu7
lang: en
text: protein phosphatase 1, regulatory subunit 87
GeneType: Name: gene with protein product
Name: IQ motif and Sec7 domain ArfGEF 1
Symbol: IQSEC1
Synonyms: lang: en
text: ARF-GEP100
lang: en
text: BRAG2
lang: en
text: GEP100
lang: en
text: KIAA0763
lang: en
text: brefeldin A-resistant ARF-GEF2
GeneType: Name: gene with protein product
Name: TRAF2 and NCK interacting kinase
Symbol: TNIK
Synonyms: lang: en
text: KIAA0551
GeneType: Name: gene with protein product
Name: neurochondrin
Symbol: NCDN
Synonyms: lang: en
text: NCDN-1
lang: en
text: NCDN-2
lang: en
text: norbin
GeneType: Name: gene with protein product
Name: ubiquitination factor E4A
Symbol: UBE4A
Synonyms: lang: en
text: E4
lang: en
text: KIAA0126
lang: en
text: UBOX2
lang: en
text: UFD2
GeneType: Name: gene with protein product
Name: tetratricopeptide repeat domain 5
Symbol: TTC5
Synonyms: lang: en
text: Strap
lang: en
text: Stress-responsive activator of p300
GeneType: Name: gene with protein product
Name: phosphatidylinositol glycan anchor biosynthesis class C
Symbol: PIGC
Synonyms: lang: en
text: GPI2
lang: en
text: PIG-C
lang: en
text: phosphatidylinositol N-acetylglucosaminyltransferase subunit C
GeneType: Name: gene with protein product
Name: solute carrier family 45 member 1
Symbol: SLC45A1
Synonyms: lang: en
text: H+/sugar symporter
GeneType: Name: gene with protein product
Name: gem nuclear organelle associated protein 5
Symbol: GEMIN5
GeneType: Name: gene with protein product
Name: ferric chelate reductase 1 like
Symbol: FRRS1L
Synonyms: lang: en
text: CG-6
GeneType: Name: gene with protein product
Name: alkB homolog 8, tRNA methyltransferase
Symbol: ALKBH8
Synonyms: lang: en
text: MGC10235
lang: en
text: TRM9
lang: en
text: TRMT9A
lang: en
text: tRNA methyltransferase 9 related
GeneType: Name: gene with protein product
Name: membrane bound O-acyltransferase domain containing 7
Symbol: MBOAT7
Synonyms: lang: en
text: BB1
lang: en
text: LPIAT
lang: en
text: LPIAT1
lang: en
text: LPLAT
lang: en
text: LPLAT11
lang: en
text: hMBOA-7
lang: en
text: lysophosphatidylinositol acyltransferase
lang: en
text: lysophosphatidylinositol acyltransferase 1
lang: en
text: lysophospholipid acyltransferase 11
lang: en
text: lysophospholipid acyltransferase 7
GeneType: Name: gene with protein product
Name: FERRY endosomal RAB5 effector complex subunit 3
Symbol: FERRY3
Synonyms: lang: en
text: Fy-3
GeneType: Name: gene with protein product
Name: seryl-tRNA synthetase 1
Symbol: SARS1
Synonyms: lang: en
text: SERS
lang: en
text: serine tRNA ligase 1, cytoplasmic
GeneType: Name: gene with protein product
Name: arginine and serine rich coiled-coil 1
Symbol: RSRC1
Synonyms: lang: en
text: BM-011
lang: en
text: MGC12197
lang: en
text: SFRS21
lang: en
text: SRrp53
lang: en
text: splicing factor, arginine/serine-rich 21
GeneType: Name: gene with protein product
Name: mediator complex subunit 25
Symbol: MED25
Synonyms: lang: en
text: ACID1
lang: en
text: ARC92
lang: en
text: DKFZp434K0512
lang: en
text: TCBAP0758
GeneType: Name: gene with protein product
Name: N-alpha-acetyltransferase 20, NatB catalytic subunit
Symbol: NAA20
Synonyms: lang: en
text: N-acetyltransferase 3 homolog (S. cerevisiae)
lang: en
text: NAT3
lang: en
text: dJ1002M8.1
GeneType: Name: gene with protein product
Name: coiled-coil and C2 domain containing 1A
Symbol: CC2D1A
Synonyms: lang: en
text: Aki-1
lang: en
text: Akt Kinase-Interacting Protein 1
lang: en
text: FLJ20241
lang: en
text: Five prime repressor element under dual repression-binding protein 1
lang: en
text: Freud-1
lang: en
text: Lgd2
lang: en
text: MRT3
lang: en
text: TAPE
lang: en
text: TBK1-associated protein in endolysosomes
lang: en
text: lethal (2) giant discs homolog 2
lang: en
text: mental retardation, nonsyndromic, autosomal recessive, 3
GeneType: Name: gene with protein product
Name: mannosidase alpha class 1B member 1
Symbol: MAN1B1
Synonyms: lang: en
text: Alpha 1,2-mannosidase
lang: en
text: ER alpha 1,2-mannosidase
lang: en
text: ERMan1
lang: en
text: ERManI
lang: en
text: Endoplasmic reticulum alpha-mannosidase 1
lang: en
text: Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1
lang: en
text: MANA-ER
lang: en
text: MRT15
lang: en
text: Man9GlcNAc2-specific processing alpha-mannosidase
lang: en
text: alpha 1,2-mannosidase
lang: en
text: endoplasmic Reticulum Class I alpha-mannosidase
lang: en
text: endoplasmic reticulum alpha-mannosidase 1
lang: en
text: endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1
GeneType: Name: gene with protein product
Name: translocated promoter region, nuclear basket protein
Symbol: TPR
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: eukaryotic translation elongation factor 1 beta 2
Symbol: EEF1B2
GeneType: Name: gene with protein product