abnormality of skull size Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Any abnormality of the size of the skull. (Human Phenotype Ontology, HP_0000240)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000240
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Genes

704 genes associated with the abnormality of skull size phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACAN aggrecan
ACE angiotensin I converting enzyme
ACO2 aconitase 2, mitochondrial
ACTB actin, beta
ACTG1 actin gamma 1
ACTG2 actin, gamma 2, smooth muscle, enteric
ADAR adenosine deaminase, RNA-specific
ADAT3 adenosine deaminase, tRNA-specific 3
ADK adenosine kinase
ADSL adenylosuccinate lyase
AGA aspartylglucosaminidase
AGGF1 angiogenic factor with G patch and FHA domains 1
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG3 ALG3, alpha-1,3- mannosyltransferase
AMER1 APC membrane recruitment protein 1
AMPD2 adenosine monophosphate deaminase 2
ANK1 ankyrin 1, erythrocytic
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANTXR2 anthrax toxin receptor 2
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
AP4S1 adaptor-related protein complex 4, sigma 1 subunit
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARHGAP31 Rho GTPase activating protein 31
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
ARL6 ADP-ribosylation factor-like 6
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ARSB arylsulfatase B
ARSE arylsulfatase E (chondrodysplasia punctata 1)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASNS asparagine synthetase (glutamine-hydrolyzing)
ASPA aspartoacylase
ASPM asp (abnormal spindle) homolog, microcephaly associated (Drosophila)
ASXL1 additional sex combs like transcriptional regulator 1
ATP10A ATPase, class V, type 10A
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
ATRX alpha thalassemia/mental retardation syndrome X-linked
AUH AU RNA binding protein/enoyl-CoA hydratase
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
B3GNT1
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
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
BCOR BCL6 corepressor
BCR breakpoint cluster region
BDNF brain-derived neurotrophic factor
BLM Bloom syndrome, RecQ helicase-like
BMP15 bone morphogenetic protein 15
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BRWD3 bromodomain and WD repeat domain containing 3
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C12ORF57 chromosome 12 open reading frame 57
C2CD3 C2 calcium-dependent domain containing 3
CASC5 cancer susceptibility candidate 5
CASK calcium/calmodulin-dependent serine protein kinase (MAGUK family)
CC2D2A coiled-coil and C2 domain containing 2A
CCDC22 coiled-coil domain containing 22
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
CDT1 chromatin licensing and DNA replication factor 1
CENPJ centromere protein J
CEP135 centrosomal protein 135kDa
CEP152 centrosomal protein 152kDa
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CEP63 centrosomal protein 63kDa
CHD7 chromodomain helicase DNA binding protein 7
CHKB choline kinase beta
CHL1 cell adhesion molecule L1-like
CHMP1A charged multivesicular body protein 1A
CHN1 chimerin 1
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHUK conserved helix-loop-helix ubiquitous kinase
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
CLP1 cleavage and polyadenylation factor I subunit 1
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
CNTN4 contactin 4
COG1 component of oligomeric golgi complex 1
COG4 component of oligomeric golgi complex 4
COG6 component of oligomeric golgi complex 6
COL2A1 collagen, type II, alpha 1
COL4A1 collagen, type IV, alpha 1
COMT catechol-O-methyltransferase
COQ9 coenzyme Q9
COX1
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX2
COX3
COX7B cytochrome c oxidase subunit VIIb
CPT2 carnitine palmitoyltransferase 2
CRBN cereblon
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTCF CCCTC-binding factor (zinc finger protein)
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNND2 catenin (cadherin-associated protein), delta 2
CTSD cathepsin D
CUL4B cullin 4B
CYB5R3 cytochrome b5 reductase 3
CYFIP1 cytoplasmic FMR1 interacting protein 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DGUOK deoxyguanosine kinase
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DHFR dihydrofolate reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DKC1 dyskeratosis congenita 1, dyskerin
DLAT dihydrolipoamide S-acetyltransferase
DLD dihydrolipoamide dehydrogenase
DLL3 delta-like 3 (Drosophila)
DNA2 DNA replication helicase/nuclease 2
DNM1L dynamin 1-like
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK6 dedicator of cytokinesis 6
DOLK dolichol kinase
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
DPP6 dipeptidyl-peptidase 6
DPYD dihydropyrimidine dehydrogenase
DYM dymeclin
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EFNB1 ephrin-B1
EFTUD2 elongation factor Tu GTP binding domain containing 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF2B1 eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B3 eukaryotic translation initiation factor 2B, subunit 3 gamma, 58kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ELAC2 elaC ribonuclease Z 2
ELN elastin
ELOVL4 ELOVL fatty acid elongase 4
EMG1 EMG1 N1-specific pseudouridine methyltransferase
EP300 E1A binding protein p300
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
EPHX1 epoxide hydrolase 1, microsomal (xenobiotic)
ERCC1 excision repair cross-complementation group 1
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC4 excision repair cross-complementation group 4
ERCC5 excision repair cross-complementation group 5
ERCC6 excision repair cross-complementation group 6
ERCC6L2 excision repair cross-complementation group 6-like 2
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ETFA electron-transfer-flavoprotein, alpha polypeptide
ETFB electron-transfer-flavoprotein, beta polypeptide
ETFDH electron-transferring-flavoprotein dehydrogenase
EXOSC3 exosome component 3
EXT1 exostosin glycosyltransferase 1
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM111A family with sequence similarity 111, member A
FAM20A family with sequence similarity 20, member A
FAM20C family with sequence similarity 20, member C
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FARS2 phenylalanyl-tRNA synthetase 2, mitochondrial
FBN1 fibrillin 1
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
FKRP fukutin related protein
FKTN fukutin
FLII flightless I homolog (Drosophila)
FMR1 fragile X mental retardation 1
FOXG1 forkhead box G1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM1 FRAS1 related extracellular matrix 1
FREM2 FRAS1 related extracellular matrix protein 2
FSHR follicle stimulating hormone receptor
FTO fat mass and obesity associated
G6PC3 glucose 6 phosphatase, catalytic, 3
GAD1 glutamate decarboxylase 1 (brain, 67kDa)
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GCDH glutaryl-CoA dehydrogenase
GFAP glial fibrillary acidic protein
GFM1 G elongation factor, mitochondrial 1
GJA1 gap junction protein, alpha 1, 43kDa
GJB3 gap junction protein, beta 3, 31kDa
GJB4 gap junction protein, beta 4, 30.3kDa
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GLYCTK glycerate kinase
GMPPA GDP-mannose pyrophosphorylase A
GMPPB GDP-mannose pyrophosphorylase B
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNAS GNAS complex locus
GNPAT glyceronephosphate O-acyltransferase
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GRIA3 glutamate receptor, ionotropic, AMPA 3
GRIP1 glutamate receptor interacting protein 1
GTF2H5 general transcription factor IIH, polypeptide 5
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HCCS holocytochrome c synthase
HCFC1 host cell factor C1
HDAC4 histone deacetylase 4
HDAC6 histone deacetylase 6
HDAC8 histone deacetylase 8
HEPACAM hepatic and glial cell adhesion molecule
HES7 hes family bHLH transcription factor 7
HEXB hexosaminidase B (beta polypeptide)
HHAT hedgehog acyltransferase
HIRA histone cell cycle regulator
HMGB3 high mobility group box 3
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IER3IP1 immediate early response 3 interacting protein 1
IFIH1 interferon induced with helicase C domain 1
IFT140 intraflagellar transport 140
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IGBP1 immunoglobulin (CD79A) binding protein 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IHH indian hedgehog
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INSR insulin receptor
ISPD isoprenoid synthase domain containing
ITCH itchy E3 ubiquitin protein ligase
JAM3 junctional adhesion molecule 3
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KCNT1 potassium channel, sodium activated subfamily T, member 1
KCTD7 potassium channel tetramerization domain containing 7
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIAA0196 KIAA0196
KIAA2022 KIAA2022
KIF11 kinesin family member 11
KIF1BP KIF1 binding protein
KIF22 kinesin family member 22
KIF2A kinesin heavy chain member 2A
KIF5C kinesin family member 5C
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLLN killin, p53-regulated DNA replication inhibitor
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
L2HGDH L-2-hydroxyglutarate dehydrogenase
LAMB1 laminin, beta 1
LARGE like-glycosyltransferase
LARP7 La ribonucleoprotein domain family, member 7
LBR lamin B receptor
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIAS lipoic acid synthetase
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LINS lines homolog (Drosophila)
LRP2 low density lipoprotein receptor-related protein 2
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LTC4S leukotriene C4 synthase
LZTFL1 leucine zipper transcription factor-like 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MBD5 methyl-CpG binding domain protein 5
MBTPS2 membrane-bound transcription factor peptidase, site 2
MCM4 minichromosome maintenance complex component 4
MCOLN1 mucolipin 1
MCPH1 microcephalin 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MED17 mediator complex subunit 17
MEIS2 Meis homeobox 2
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGME1 mitochondrial genome maintenance exonuclease 1
MIR17HG miR-17-92 cluster host gene
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPC1 mitochondrial pyruvate carrier 1
MPDZ multiple PDZ domain protein
MPLKIP M-phase specific PLK1 interacting protein
MRPS22 mitochondrial ribosomal protein S22
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTFMT mitochondrial methionyl-tRNA formyltransferase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTM1 myotubularin 1
MVK mevalonate kinase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NALCN sodium leak channel, non selective
NAT8L N-acetyltransferase 8-like (GCN5-related, putative)
NBN nibrin
ND1
NDE1 nudE neurodevelopment protein 1
NDP Norrie disease (pseudoglioma)
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
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
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)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NELFA negative elongation factor complex member A
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHEJ1 nonhomologous end-joining factor 1
NIN ninein (GSK3B interacting protein)
NIPBL Nipped-B homolog (Drosophila)
NLRP3 NLR family, pyrin domain containing 3
NOP10 NOP10 ribonucleoprotein
NOTCH2 notch 2
NR5A1 nuclear receptor subfamily 5, group A, 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
NTNG1 netrin G1
NUBPL nucleotide binding protein-like
OCA2 oculocutaneous albinism II
OCLN occludin
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PAH phenylalanine hydroxylase
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PAX6 paired box 6
PCNA proliferating cell nuclear antigen
PCNT pericentrin
PDGFB platelet-derived growth factor beta polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
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
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PHC1 polyhomeotic homolog 1 (Drosophila)
PHF6 PHD finger protein 6
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
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)
PITX1 paired-like homeodomain 1
PLCB4 phospholipase C, beta 4
PLG plasminogen
PLP1 proteolipid protein 1
PMM2 phosphomannomutase 2
PNKP polynucleotide kinase 3'-phosphatase
PNPO pyridoxamine 5'-phosphate oxidase
POC1A POC1 centriolar protein A
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLG polymerase (DNA directed), gamma
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
POMT2 protein-O-mannosyltransferase 2
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
PPT1 palmitoyl-protein thioesterase 1
PQBP1 polyglutamine binding protein 1
PSAT1 phosphoserine aminotransferase 1
PSMC3IP PSMC3 interacting protein
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTHLH parathyroid hormone-like hormone
PTS 6-pyruvoyltetrahydropterin synthase
PUF60 poly-U binding splicing factor 60KDa
PUS1 pseudouridylate synthase 1
PYCR1 pyrroline-5-carboxylate reductase 1
QARS glutaminyl-tRNA synthetase
QDPR quinoid dihydropteridine reductase
RAB18 RAB18, member RAS oncogene family
RAB39B RAB39B, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAB40AL RAB40A, member RAS oncogene family-like
RAD21 RAD21 homolog (S. pombe)
RAD50 RAD50 homolog (S. cerevisiae)
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RB1 retinoblastoma 1
RBBP8 retinoblastoma binding protein 8
RBM28 RNA binding motif protein 28
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RELN reelin
REN renin
RFC2 replication factor C (activator 1) 2, 40kDa
RIPK4 receptor-interacting serine-threonine kinase 4
RIT1 Ras-like without CAAX 1
RNASEH2A ribonuclease H2, subunit A
RNASEH2B ribonuclease H2, subunit B
RNASEH2C ribonuclease H2, subunit C
RNASET2 ribonuclease T2
RNF135 ring finger protein 135
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RTEL1 regulator of telomere elongation helicase 1
RTTN rotatin
RUNX2 runt-related transcription factor 2
SALL1 spalt-like transcription factor 1
SAMHD1 SAM domain and HD domain 1
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SCN1A sodium channel, voltage gated, type I alpha subunit
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SEPSECS Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SH2B1 SH2B adaptor protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHH sonic hedgehog
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIL1 SIL1 nucleotide exchange factor
SIM1 single-minded family bHLH transcription factor 1
SIX3 SIX homeobox 3
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A22 solute carrier family 25 (mitochondrial carrier: glutamate), member 22
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC35A2 solute carrier family 35 (UDP-galactose transporter), member A2
SLC35A3 solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3
SLC35C1 solute carrier family 35 (GDP-fucose transporter), member C1
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SNAI2 snail family zinc finger 2
SNAP29 synaptosomal-associated protein, 29kDa
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SNX3 sorting nexin 3
SOS1 son of sevenless homolog 1 (Drosophila)
SOST sclerostin
SOX11 SRY (sex determining region Y)-box 11
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SP110 SP110 nuclear body protein
SPR sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
SPRED1 sprouty-related, EVH1 domain containing 1
SPTAN1 spectrin, alpha, non-erythrocytic 1
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAMBP STAM binding protein
STIL SCL/TAL1 interrupting locus
STRADA STE20-related kinase adaptor alpha
STT3A STT3A, subunit of the oligosaccharyltransferase complex (catalytic)
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUFU suppressor of fused homolog (Drosophila)
SUMF1 sulfatase modifying factor 1
SYN1 synapsin I
SYNGAP1 synaptic Ras GTPase activating protein 1
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TAT tyrosine aminotransferase
TBC1D20 TBC1 domain family, member 20
TBC1D24 TBC1 domain family, member 24
TBC1D7 TBC1 domain family, member 7
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX2 T-box 2
TBX4 T-box 4
TBX6 T-box 6
TCF12 transcription factor 12
TCF4 transcription factor 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TECPR2 tectonin beta-propeller repeat containing 2
TERT telomerase reverse transcriptase
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
THOC6 THO complex 6
THRA thyroid hormone receptor, alpha
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM165 transmembrane protein 165
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM5 transmembrane protein 5
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TRAPPC11 trafficking protein particle complex 11
TRAPPC9 trafficking protein particle complex 9
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TRIP11 thyroid hormone receptor interactor 11
TRMT10A tRNA methyltransferase 10 homolog A (S. cerevisiae)
TRPS1 trichorhinophalangeal syndrome I
TSEN34 TSEN34 tRNA splicing endonuclease subunit
TSEN54 TSEN54 tRNA splicing endonuclease subunit
TTC8 tetratricopeptide repeat domain 8
TTI2 TELO2 interacting protein 2
TUBA1A tubulin, alpha 1a
TUBA8 tubulin, alpha 8
TUBB tubulin, beta class I
TUBB2B tubulin, beta 2B class IIb
TUBB3 tubulin, beta 3 class III
TUBB4A tubulin, beta 4A class IVa
TUBG1 tubulin, gamma 1
TUBGCP6 tubulin, gamma complex associated protein 6
TUFM Tu translation elongation factor, mitochondrial
UBE2A ubiquitin-conjugating enzyme E2A
UBE3A ubiquitin protein ligase E3A
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UPB1 ureidopropionase, beta
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VARS2 valyl-tRNA synthetase 2, mitochondrial
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VPS53 vacuolar protein sorting 53 homolog (S. cerevisiae)
VRK1 vaccinia related kinase 1
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDPCP WD repeat containing planar cell polarity effector
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WDR62 WD repeat domain 62
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
XPA xeroderma pigmentosum, complementation group A
XYLT1 xylosyltransferase I
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZBTB16 zinc finger and BTB domain containing 16
ZBTB18 zinc finger and BTB domain containing 18
ZBTB20 zinc finger and BTB domain containing 20
ZBTB24 zinc finger and BTB domain containing 24
ZDHHC9 zinc finger, DHHC-type containing 9
ZEB2 zinc finger E-box binding homeobox 2
ZIC2 Zic family member 2
ZNF335 zinc finger protein 335
ZNF469 zinc finger protein 469
ZNF592 zinc finger protein 592