global developmental delay Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. (Human Phenotype Ontology, HP_0001263)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001263
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Genes

546 genes associated with the global developmental delay phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABAT 4-aminobutyrate aminotransferase
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACAT2 acetyl-CoA acetyltransferase 2
ACO2 aconitase 2, mitochondrial
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACSF3 acyl-CoA synthetase family member 3
ACTB actin, beta
ACY1 aminoacylase 1
ADAMTSL2 ADAMTS-like 2
ADAR adenosine deaminase, RNA-specific
ADGRG1 adhesion G protein-coupled receptor G1
ADK adenosine kinase
ADNP activity-dependent neuroprotector homeobox
ADSL adenylosuccinate lyase
AHCY adenosylhomocysteinase
AHDC1 AT hook, DNA binding motif, containing 1
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALDH18A1 aldehyde dehydrogenase 18 family, member A1
ALDH5A1 aldehyde dehydrogenase 5 family, member A1
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG11 ALG11, alpha-1,2-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG3 ALG3, alpha-1,3- mannosyltransferase
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALMS1 Alstrom syndrome protein 1
AMPD2 adenosine monophosphate deaminase 2
ANKRD11 ankyrin repeat domain 11
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARG1 arginase 1
ARHGAP31 Rho GTPase activating protein 31
ARL13B ADP-ribosylation factor-like 13B
ARL6 ADP-ribosylation factor-like 6
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ARX aristaless related homeobox
ASL argininosuccinate lyase
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASS1 argininosuccinate synthase 1
ASXL1 additional sex combs like transcriptional regulator 1
ATCAY ataxia, cerebellar, Cayman type
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATRX alpha thalassemia/mental retardation syndrome X-linked
AUH AU RNA binding protein/enoyl-CoA hydratase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GNT1
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCAP31 B-cell receptor-associated protein 31
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BMP4 bone morphogenetic protein 4
BMPER BMP binding endothelial regulator
BOLA3 bolA family member 3
BRAT1 BRCA1-associated ATM activator 1
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTD biotinidase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C10ORF2 chromosome 10 open reading frame 2
C12ORF57 chromosome 12 open reading frame 57
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C5ORF42 chromosome 5 open reading frame 42
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CAMTA1 calmodulin binding transcription activator 1
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CC2D1A coiled-coil and C2 domain containing 1A
CC2D2A coiled-coil and C2 domain containing 2A
CCND2 cyclin D2
CD96 CD96 molecule
CDC6 cell division cycle 6
CDK5RAP2 CDK5 regulatory subunit associated protein 2
CDKL5 cyclin-dependent kinase-like 5
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDON cell adhesion associated, oncogene regulated
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP63 centrosomal protein 63kDa
CHD2 chromodomain helicase DNA binding protein 2
CHMP1A charged multivesicular body protein 1A
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLIC2 chloride intracellular channel 2
CLP1 cleavage and polyadenylation factor I subunit 1
COA5 cytochrome c oxidase assembly factor 5
COG1 component of oligomeric golgi complex 1
COG6 component of oligomeric golgi complex 6
COL11A2 collagen, type XI, alpha 2
COL4A2 collagen, type IV, alpha 2
COLEC11 collectin sub-family member 11
COQ9 coenzyme Q9
CORO1A coronin, actin binding protein, 1A
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX20 COX20 cytochrome c oxidase assembly factor
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
COX7B cytochrome c oxidase subunit VIIb
CPS1 carbamoyl-phosphate synthase 1, mitochondrial
CRBN cereblon
CSPP1 centrosome and spindle pole associated protein 1
CTCF CCCTC-binding factor (zinc finger protein)
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYB5R3 cytochrome b5 reductase 3
D2HGDH D-2-hydroxyglutarate dehydrogenase
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DDHD2 DDHD domain containing 2
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DDR2 discoidin domain receptor tyrosine kinase 2
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DEAF1 DEAF1 transcription factor
DHCR24 24-dehydrocholesterol reductase
DHFR dihydrofolate reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DKC1 dyskeratosis congenita 1, dyskerin
DLAT dihydrolipoamide S-acetyltransferase
DLD dihydrolipoamide dehydrogenase
DLG3 discs, large homolog 3 (Drosophila)
DNA2 DNA replication helicase/nuclease 2
DOCK6 dedicator of cytokinesis 6
DOCK7 dedicator of cytokinesis 7
DOCK8 dedicator of cytokinesis 8
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DYM dymeclin
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EDNRB endothelin receptor type B
EFNB1 ephrin-B1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EGF epidermal growth factor
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF4A3 eukaryotic translation initiation factor 4A3
ELAC2 elaC ribonuclease Z 2
ELOVL4 ELOVL fatty acid elongase 4
EP300 E1A binding protein p300
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERMARD ER membrane-associated RNA degradation
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ETHE1 ethylmalonic encephalopathy 1
EXOSC3 exosome component 3
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FANCL Fanconi anemia, complementation group L
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FASTKD2 FAST kinase domains 2
FBXL4 F-box and leucine-rich repeat protein 4
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FIG4 FIG4 phosphoinositide 5-phosphatase
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FTO fat mass and obesity associated
G6PC3 glucose 6 phosphatase, catalytic, 3
GABRA1 gamma-aminobutyric acid (GABA) A receptor, alpha 1
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GALE UDP-galactose-4-epimerase
GAMT guanidinoacetate N-methyltransferase
GATA6 GATA binding protein 6
GATM glycine amidinotransferase (L-arginine:glycine amidinotransferase)
GBA glucosidase, beta, acid
GCH1 GTP cyclohydrolase 1
GCK glucokinase (hexokinase 4)
GFER growth factor, augmenter of liver regeneration
GJC2 gap junction protein, gamma 2, 47kDa
GK glycerol kinase
GLI2 GLI family zinc finger 2
GLUL glutamate-ammonia ligase
GLYCTK glycerate kinase
GM2A GM2 ganglioside activator
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNAO1 guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GRIN2A glutamate receptor, ionotropic, N-methyl D-aspartate 2A
GRM1 glutamate receptor, metabotropic 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HAX1 HCLS1 associated protein X-1
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HESX1 HESX homeobox 1
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDUA iduronidase, alpha-L-
IER3IP1 immediate early response 3 interacting protein 1
IFIH1 interferon induced with helicase C domain 1
IFT27 intraflagellar transport 27
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INS insulin
INSR insulin receptor
IRX5 iroquois homeobox 5
ITCH itchy E3 ubiquitin protein ligase
IVD isovaleryl-CoA dehydrogenase
JAM3 junctional adhesion molecule 3
KANSL1 KAT8 regulatory NSL complex subunit 1
KARS lysyl-tRNA synthetase
KAT6B K(lysine) acetyltransferase 6B
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIAA1033 KIAA1033
KIAA2022 KIAA2022
KIF1A kinesin family member 1A
KIF1BP KIF1 binding protein
KIF2A kinesin heavy chain member 2A
KIF5C kinesin family member 5C
KMT2D lysine (K)-specific methyltransferase 2D
KPTN kaptin (actin binding protein)
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMB1 laminin, beta 1
LAMC3 laminin, gamma 3
LAMP2 lysosomal-associated membrane protein 2
LARGE like-glycosyltransferase
LIAS lipoic acid synthetase
LINS lines homolog (Drosophila)
LMBRD1 LMBR1 domain containing 1
LRP2 low density lipoprotein receptor-related protein 2
LRPPRC leucine-rich pentatricopeptide repeat containing
LTC4S leukotriene C4 synthase
LZTFL1 leucine zipper transcription factor-like 1
MAGEL2 melanoma antigen family L2
MAN1B1 mannosidase, alpha, class 1B, member 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED17 mediator complex subunit 17
METTL23 methyltransferase like 23
MFSD8 major facilitator superfamily domain containing 8
MID1 midline 1
MID2 midline 2
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLYCD malonyl-CoA decarboxylase
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MMADHC methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
MNX1 motor neuron and pancreas homeobox 1
MOGS mannosyl-oligosaccharide glucosidase
MPC1 mitochondrial pyruvate carrier 1
MPLKIP M-phase specific PLK1 interacting protein
MPV17 MpV17 mitochondrial inner membrane protein
MRPL3 mitochondrial ribosomal protein L3
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTO1 mitochondrial tRNA translation optimization 1
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYO5A myosin VA (heavy chain 12, myoxin)
NAGA N-acetylgalactosaminidase, alpha-
NALCN sodium leak channel, non selective
NAT8L N-acetyltransferase 8-like (GCN5-related, putative)
NDE1 nudE neurodevelopment protein 1
NDN necdin, melanoma antigen (MAGE) family member
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFA12 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12
NDUFA2 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 2, 8kDa
NDUFA9 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFS7 NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
NDUFS8 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NECAP1 NECAP endocytosis associated 1
NF1 neurofibromin 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NFU1 NFU1 iron-sulfur cluster scaffold
NGLY1 N-glycanase 1
NIN ninein (GSK3B interacting protein)
NKX2-1 NK2 homeobox 1
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NR2F1 nuclear receptor subfamily 2, group F, member 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NUBPL nucleotide binding protein-like
OCLN occludin
OCRL oculocerebrorenal syndrome of Lowe
OPHN1 oligophrenin 1
OTC ornithine carbamoyltransferase
OTX2 orthodenticle homeobox 2
P3H1 prolyl 3-hydroxylase 1
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PANK2 pantothenate kinase 2
PC pyruvate carboxylase
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCDH19 protocadherin 19
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCNA proliferating cell nuclear antigen
PCNT pericentrin
PDE4D phosphodiesterase 4D, cAMP-specific
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PEPD peptidase D
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX6 peroxisomal biogenesis factor 6
PGAP1 post-GPI attachment to proteins 1
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PGK1 phosphoglycerate kinase 1
PGM3 phosphoglucomutase 3
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLOD3 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
POC1A POC1 centriolar protein A
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
PPT1 palmitoyl-protein thioesterase 1
PRF1 perforin 1 (pore forming protein)
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PRODH proline dehydrogenase (oxidase) 1
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PSAP prosaposin
PSAT1 phosphoserine aminotransferase 1
PSPH phosphoserine phosphatase
PTCH1 patched 1
PTEN phosphatase and tensin homolog
PTS 6-pyruvoyltetrahydropterin synthase
PUF60 poly-U binding splicing factor 60KDa
PYCR1 pyrroline-5-carboxylate reductase 1
QARS glutaminyl-tRNA synthetase
QDPR quinoid dihydropteridine reductase
RAB39B RAB39B, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD21 RAD21 homolog (S. pombe)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RBBP8 retinoblastoma binding protein 8
RBM10 RNA binding motif protein 10
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RET ret proto-oncogene
RFT1 RFT1 homolog (S. cerevisiae)
RNASEH2A ribonuclease H2, subunit A
RNASEH2C ribonuclease H2, subunit C
RNASET2 ribonuclease T2
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
ROGDI rogdi homolog (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1L RPGRIP1-like
RPIA ribose 5-phosphate isomerase A
RPL35A ribosomal protein L35a
RTEL1 regulator of telomere elongation helicase 1
SAMHD1 SAM domain and HD domain 1
SBDS Shwachman-Bodian-Diamond syndrome
SCN1A sodium channel, voltage gated, type I alpha subunit
SCN2A sodium channel, voltage gated, type II alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SERAC1 serine active site containing 1
SERPINA7 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
SETD5 SET domain containing 5
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIL1 SIL1 nucleotide exchange factor
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A2 solute carrier family 2 (facilitated glucose transporter), member 2
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLC6A19 solute carrier family 6 (neutral amino acid transporter), member 19
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMC3 structural maintenance of chromosomes 3
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNAP29 synaptosomal-associated protein, 29kDa
SNIP1 Smad nuclear interacting protein 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SOBP sine oculis binding protein homolog (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SPG20 spastic paraplegia 20 (Troyer syndrome)
SPINK5 serine peptidase inhibitor, Kazal type 5
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPTBN2 spectrin, beta, non-erythrocytic 2
ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAMBP STAM binding protein
STRADA STE20-related kinase adaptor alpha
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
STX11 syntaxin 11
STXBP1 syntaxin binding protein 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUCLG1 succinate-CoA ligase, alpha subunit
SUMF1 sulfatase modifying factor 1
SUOX sulfite oxidase
SURF1 surfeit 1
SYNGAP1 synaptic Ras GTPase activating protein 1
SZT2 seizure threshold 2 homolog (mouse)
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TBC1D24 TBC1 domain family, member 24
TBC1D7 TBC1 domain family, member 7
TBX1 T-box 1
TCF12 transcription factor 12
TECPR2 tectonin beta-propeller repeat containing 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THOC6 THO complex 6
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM165 transmembrane protein 165
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TPI1 triosephosphate isomerase 1
TPK1 thiamin pyrophosphokinase 1
TRAPPC11 trafficking protein particle complex 11
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TSFM Ts translation elongation factor, mitochondrial
TTC19 tetratricopeptide repeat domain 19
TTC8 tetratricopeptide repeat domain 8
TTI2 TELO2 interacting protein 2
TUBA8 tubulin, alpha 8
TUBB tubulin, beta class I
TUBB2A tubulin, beta 2A class IIa
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
TUBG1 tubulin, gamma 1
UBE3A ubiquitin protein ligase E3A
UMPS uridine monophosphate synthetase
UQCC2 ubiquinol-cytochrome c reductase complex assembly factor 2
UQCRQ ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
USP9X ubiquitin specific peptidase 9, X-linked
VARS2 valyl-tRNA synthetase 2, mitochondrial
VAX1 ventral anterior homeobox 1
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VLDLR very low density lipoprotein receptor
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VPS37A vacuolar protein sorting 37 homolog A (S. cerevisiae)
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1
WDPCP WD repeat containing planar cell polarity effector
WDR45 WD repeat domain 45
WDR62 WD repeat domain 62
WDR81 WD repeat domain 81
WNT1 wingless-type MMTV integration site family, member 1
WNT5A wingless-type MMTV integration site family, member 5A
WWOX WW domain containing oxidoreductase
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC15 zinc finger, DHHC-type containing 15
ZIC2 Zic family member 2
ZNF335 zinc finger protein 335
ZNF592 zinc finger protein 592