abnormality of the liver Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the liver. (Human Phenotype Ontology, HP_0001392)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001392
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCB11 ATP-binding cassette, sub-family B (MDR/TAP), member 11
ABCB4 ATP-binding cassette, sub-family B (MDR/TAP), member 4
ABCC2 ATP-binding cassette, sub-family C (CFTR/MRP), member 2
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ABCG8 ATP-binding cassette, sub-family G (WHITE), member 8
ABHD5 abhydrolase domain containing 5
ACAD9 acyl-CoA dehydrogenase family, member 9
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACVRL1 activin A receptor type II-like 1
ADA adenosine deaminase
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAMTSL2 ADAMTS-like 2
ADK adenosine kinase
AGA aspartylglucosaminidase
AGGF1 angiogenic factor with G patch and FHA domains 1
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIRE autoimmune regulator
AKR1D1 aldo-keto reductase family 1, member D1
AKT2 v-akt murine thymoma viral oncogene homolog 2
ALAS2 5'-aminolevulinate synthase 2
ALDH7A1 aldehyde dehydrogenase 7 family, member A1
ALDOA aldolase A, fructose-bisphosphate
ALDOB aldolase B, fructose-bisphosphate
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALG13 ALG13, UDP-N-acetylglucosaminyltransferase subunit
ALG6 ALG6, alpha-1,3-glucosyltransferase
ALG8 ALG8, alpha-1,3-glucosyltransferase
ALG9 ALG9, alpha-1,2-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
AMACR alpha-methylacyl-CoA racemase
ANK1 ankyrin 1, erythrocytic
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
AP1S1 adaptor-related protein complex 1, sigma 1 subunit
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APC adenomatous polyposis coli
APOA1 apolipoprotein A-I
APOC2 apolipoprotein C-II
APOE apolipoprotein E
ARHGAP31 Rho GTPase activating protein 31
ARL6 ADP-ribosylation factor-like 6
ARSA arylsulfatase A
ARSB arylsulfatase B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASL argininosuccinate lyase
ASS1 argininosuccinate synthase 1
ATM ATM serine/threonine kinase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATP7B ATPase, Cu++ transporting, beta polypeptide
ATP8B1 ATPase, aminophospholipid transporter, class I, type 8B, member 1
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
AUH AU RNA binding protein/enoyl-CoA hydratase
AXIN1 axin 1
B3GALTL beta 1,3-galactosyltransferase-like
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBIP1 BBSome interacting protein 1
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
BCL11A B-cell CLL/lymphoma 11A (zinc finger protein)
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BLNK B-cell linker
BLVRA biliverdin reductase A
BMPR1A bone morphogenetic protein receptor, type IA
BOLA3 bolA family member 3
BPGM 2,3-bisphosphoglycerate mutase
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTD biotinidase
BTK Bruton agammaglobulinemia tyrosine kinase
C10ORF2 chromosome 10 open reading frame 2
C15ORF41 chromosome 15 open reading frame 41
C1S complement component 1, s subcomponent
CA2 carbonic anhydrase II
CARD11 caspase recruitment domain family, member 11
CARD9 caspase recruitment domain family, member 9
CASP10 caspase 10, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CASR calcium-sensing receptor
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CC2D2A coiled-coil and C2 domain containing 2A
CD19 CD19 molecule
CD27 CD27 molecule
CD40LG CD40 ligand
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD81 CD81 molecule
CD96 CD96 molecule
CDAN1 codanin 1
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CECR1 cat eye syndrome chromosome region, candidate 1
CEP164 centrosomal protein 164kDa
CEP290 centrosomal protein 290kDa
CEP83 centrosomal protein 83kDa
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CIDEC cell death-inducing DFFA-like effector c
CIITA class II, major histocompatibility complex, transactivator
CIRH1A cirrhosis, autosomal recessive 1A (cirhin)
CLCN7 chloride channel, voltage-sensitive 7
CLDN1 claudin 1
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
COA5 cytochrome c oxidase assembly factor 5
COG4 component of oligomeric golgi complex 4
COG6 component of oligomeric golgi complex 6
COG8 component of oligomeric golgi complex 8
COMT catechol-O-methyltransferase
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX1
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)
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
CPOX coproporphyrinogen oxidase
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CR2 complement component (3d/Epstein Barr virus) receptor 2
CSF3R colony stimulating factor 3 receptor (granulocyte)
CTC1 CTS telomere maintenance complex component 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTNS cystinosin, lysosomal cystine transporter
CTSA cathepsin A
CTSC cathepsin C
CTSK cathepsin K
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
CYC1 cytochrome c-1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DCLRE1C DNA cross-link repair 1C
DCTN4 dynactin 4 (p62)
DDOST dolichyl-diphosphooligosaccharide--protein glycosyltransferase subunit (non-catalytic)
DGUOK deoxyguanosine kinase
DHCR7 7-dehydrocholesterol reductase
DHFR dihydrofolate reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DKC1 dyskeratosis congenita 1, dyskerin
DLD dihydrolipoamide dehydrogenase
DMPK dystrophia myotonica-protein kinase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNASE1L3 deoxyribonuclease I-like 3
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
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
DYNC2H1 dynein, cytoplasmic 2, heavy chain 1
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
ELN elastin
ENG endoglin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPCAM epithelial cell adhesion molecule
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
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
EWSR1 EWS RNA-binding protein 1
F5 coagulation factor V (proaccelerin, labile factor)
FADD Fas (TNFRSF6)-associated via death domain
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAM111A family with sequence similarity 111, member A
FAN1 FANCD2/FANCI-associated nuclease 1
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
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FASTKD2 FAST kinase domains 2
FBN1 fibrillin 1
FBP1 fructose-1,6-bisphosphatase 1
FBXL4 F-box and leucine-rich repeat protein 4
FECH ferrochelatase
FERMT3 fermitin family member 3
FGA fibrinogen alpha chain
FGFR2 fibroblast growth factor receptor 2
FH fumarate hydratase
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXE1 forkhead box E1
FOXF1 forkhead box F1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FUCA1 fucosidase, alpha-L- 1, tissue
G6PC glucose-6-phosphatase, catalytic subunit
G6PC3 glucose 6 phosphatase, catalytic, 3
G6PD glucose-6-phosphate dehydrogenase
GAA glucosidase, alpha; acid
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALE UDP-galactose-4-epimerase
GALK1 galactokinase 1
GALNS galactosamine (N-acetyl)-6-sulfatase
GALT galactose-1-phosphate uridylyltransferase
GATA2 GATA binding protein 2
GATA6 GATA binding protein 6
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GDF2 growth differentiation factor 2
GFM1 G elongation factor, mitochondrial 1
GLB1 galactosidase, beta 1
GLIS3 GLIS family zinc finger 3
GNAS GNAS complex locus
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNMT glycine N-methyltransferase
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPD1 glycerol-3-phosphate dehydrogenase 1 (soluble)
GPI glucose-6-phosphate isomerase
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
GUSB glucuronidase, beta
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HADH hydroxyacyl-CoA dehydrogenase
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
HAMP hepcidin antimicrobial peptide
HBA1 hemoglobin, alpha 1
HBA2 hemoglobin, alpha 2
HBB hemoglobin, beta
HBG1 hemoglobin, gamma A
HBG2 hemoglobin, gamma G
HESX1 HESX homeobox 1
HEXB hexosaminidase B (beta polypeptide)
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HIRA histone cell cycle regulator
HK1 hexokinase 1
HLA-B major histocompatibility complex, class I, B
HMBS hydroxymethylbilane synthase
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
HMOX1 heme oxygenase 1
HNF1A HNF1 homeobox A
HNF1B HNF1 homeobox B
HOXD13 homeobox D13
HPD 4-hydroxyphenylpyruvate dioxygenase
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSD3B7 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
ICOS inducible T-cell co-stimulator
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IFT122 intraflagellar transport 122
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IFT43 intraflagellar transport 43
IFT80 intraflagellar transport 80
IGF2R insulin-like growth factor 2 receptor
IGHM immunoglobulin heavy constant mu
IGHV4-34 immunoglobulin heavy variable 4-34
IGLL1 immunoglobulin lambda-like polypeptide 1
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IL1RN interleukin 1 receptor antagonist
IL21R interleukin 21 receptor
IL2RA interleukin 2 receptor, alpha
IL2RG interleukin 2 receptor, gamma
IL6 interleukin 6
IL7R interleukin 7 receptor
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INPPL1 inositol polyphosphate phosphatase-like 1
INSR insulin receptor
INVS inversin
IQCB1 IQ motif containing B1
ITCH itchy E3 ubiquitin protein ligase
ITK IL2-inducible T-cell kinase
IYD iodotyrosine deiodinase
JAG1 jagged 1
JAK2 Janus kinase 2
JAM3 junctional adhesion molecule 3
KAT6B K(lysine) acetyltransferase 6B
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF1 Kruppel-like factor 1 (erythroid)
KRAS Kirsten rat sarcoma viral oncogene homolog
KRIT1 KRIT1, ankyrin repeat containing
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT18 keratin 18, type I
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
KRT8 keratin 8, type II
LBR lamin B receptor
LCAT lecithin-cholesterol acyltransferase
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LHX1 LIM homeobox 1
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LIPA lipase A, lysosomal acid, cholesterol esterase
LIPE lipase, hormone-sensitive
LMNA lamin A/C
LMNB2 lamin B2
LPIN2 lipin 2
LPL lipoprotein lipase
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRP5 low density lipoprotein receptor-related protein 5
LRPPRC leucine-rich pentatricopeptide repeat containing
LRRC8A leucine rich repeat containing 8 family, member A
LRRFIP2 leucine rich repeat (in FLII) interacting protein 2
LYRM4 LYR motif containing 4
LYST lysosomal trafficking regulator
LYZ lysozyme
LZTFL1 leucine zipper transcription factor-like 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MCCC1 methylcrotonoyl-CoA carboxylase 1 (alpha)
MCM4 minichromosome maintenance complex component 4
MECP2 methyl CpG binding protein 2
MEFV Mediterranean fever
MET MET proto-oncogene, receptor tyrosine kinase
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MLH3 mutL homolog 3
MMAA methylmalonic aciduria (cobalamin deficiency) cblA type
MMAB methylmalonic aciduria (cobalamin deficiency) cblB type
MOGS mannosyl-oligosaccharide glucosidase
MPC1 mitochondrial pyruvate carrier 1
MPI mannose phosphate isomerase
MPL MPL proto-oncogene, thrombopoietin receptor
MPV17 MpV17 mitochondrial inner membrane protein
MRPL3 mitochondrial ribosomal protein L3
MRPL44 mitochondrial ribosomal protein L44
MRPS16 mitochondrial ribosomal protein S16
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
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
MTM1 myotubularin 1
MUT methylmalonyl CoA mutase
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
ND1
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
NEK1 NIMA-related kinase 1
NEK8 NIMA-related kinase 8
NELFA negative elongation factor complex member A
NEU1 sialidase 1 (lysosomal sialidase)
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NGLY1 N-glycanase 1
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NHP2 NHP2 ribonucleoprotein
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOP10 NOP10 ribonucleoprotein
NOTCH1 notch 1
NOTCH2 notch 2
NPC1 Niemann-Pick disease, type C1
NPC2 Niemann-Pick disease, type C2
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
NPHP4 nephronophthisis 4
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NUBPL nucleotide binding protein-like
OCLN occludin
OFD1 oral-facial-digital syndrome 1
OTC ornithine carbamoyltransferase
PALB2 partner and localizer of BRCA2
PAX8 paired box 8
PC pyruvate carboxylase
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PCK2 phosphoenolpyruvate carboxykinase 2 (mitochondrial)
PDGFB platelet-derived growth factor beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDGFRL platelet-derived growth factor receptor-like
PEPD peptidase D
PET100 PET100 homolog (S. cerevisiae)
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
PFKM phosphofructokinase, muscle
PGM1 phosphoglucomutase 1
PHKA2 phosphorylase kinase, alpha 2 (liver)
PHKB phosphorylase kinase, beta
PHKG2 phosphorylase kinase, gamma 2 (testis)
PIEZO1 piezo-type mechanosensitive ion channel component 1
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGM phosphatidylinositol glycan anchor biosynthesis, class M
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKHD1 polycystic kidney and hepatic disease 1 (autosomal recessive)
PKLR pyruvate kinase, liver and RBC
PLIN1 perilipin 1
PMM2 phosphomannomutase 2
PMS1 PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNPLA2 patatin-like phospholipase domain containing 2
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMC proopiomelanocortin
PORCN porcupine homolog (Drosophila)
POU1F1 POU class 1 homeobox 1
POU6F2 POU class 6 homeobox 2
PPARG peroxisome proliferator-activated receptor gamma
PPP1R3A protein phosphatase 1, regulatory subunit 3A
PRDM16 PR domain containing 16
PRF1 perforin 1 (pore forming protein)
PRKCD protein kinase C, delta
PRKCSH protein kinase C substrate 80K-H
PROP1 PROP paired-like homeobox 1
PSAP prosaposin
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
PTPN3 protein tyrosine phosphatase, non-receptor type 3
PTPRC protein tyrosine phosphatase, receptor type, C
PTRF polymerase I and transcript release factor
PYGL phosphorylase, glycogen, liver
RAB27A RAB27A, member RAS oncogene family
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RBM8A RNA binding motif protein 8A
RBPJ recombination signal binding protein for immunoglobulin kappa J region
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RFT1 RFT1 homolog (S. cerevisiae)
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFX6 regulatory factor X, 6
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RHAG Rh-associated glycoprotein
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
RIT1 Ras-like without CAAX 1
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNASEH2A ribonuclease H2, subunit A
RNASEH2C ribonuclease H2, subunit C
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing)
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
RTEL1 regulator of telomere elongation helicase 1
SBDS Shwachman-Bodian-Diamond syndrome
SC5D sterol-C5-desaturase
SCARB2 scavenger receptor class B, member 2
SDCCAG8 serologically defined colon cancer antigen 8
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SEC23B Sec23 homolog B (S. cerevisiae)
SEC63 SEC63 homolog (S. cerevisiae)
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SETBP1 SET binding protein 1
SFTPA2 surfactant protein A2
SGSH N-sulfoglucosamine sulfohydrolase
SH2D1A SH2 domain containing 1A
SKI SKI proto-oncogene
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC11A2 solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A1 solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13
SLC25A15 solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC30A10 solute carrier family 30, member 10
SLC37A4 solute carrier family 37 (glucose-6-phosphate transporter), member 4
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC40A1 solute carrier family 40 (iron-regulated transporter), member 1
SLC4A1 solute carrier family 4 (anion exchanger), member 1 (Diego blood group)
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SLCO1B1 solute carrier organic anion transporter family, member 1B1
SLCO1B3 solute carrier organic anion transporter family, member 1B3
SLCO2A1 solute carrier organic anion transporter family, member 2A1
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SMPD1 sphingomyelin phosphodiesterase 1, acid lysosomal
SNX10 sorting nexin 10
SOS1 son of sevenless homolog 1 (Drosophila)
SOX10 SRY (sex determining region Y)-box 10
SP110 SP110 nuclear body protein
SPTB spectrin, beta, erythrocytic
SRD5A3 steroid 5 alpha-reductase 3
STAT1 signal transducer and activator of transcription 1, 91kDa
STEAP3 STEAP family member 3, metalloreductase
STK11 serine/threonine kinase 11
STT3B STT3B, subunit of the oligosaccharyltransferase complex (catalytic)
STX11 syntaxin 11
STX1A syntaxin 1A (brain)
STXBP2 syntaxin binding protein 2
SUMF1 sulfatase modifying factor 1
SURF1 surfeit 1
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TALDO1 transaldolase 1
TARS2 threonyl-tRNA synthetase 2, mitochondrial (putative)
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TCF3 transcription factor 3
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN2 tectonic family member 2
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TET2 tet methylcytosine dioxygenase 2
TF transferrin
TFR2 transferrin receptor 2
TG thyroglobulin
TGFB1 transforming growth factor, beta 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TJP2 tight junction protein 2
TMEM165 transmembrane protein 165
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TMEM70 transmembrane protein 70
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TP53 tumor protein p53
TPI1 triosephosphate isomerase 1
TPO thyroid peroxidase
TRAF3IP2 TRAF3 interacting protein 2
TREX1 three prime repair exonuclease 1
TRHR thyrotropin-releasing hormone receptor
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TSFM Ts translation elongation factor, mitochondrial
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
TTC21B tetratricopeptide repeat domain 21B
TTC37 tetratricopeptide repeat domain 37
TTC8 tetratricopeptide repeat domain 8
TUFM Tu translation elongation factor, mitochondrial
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UNC13D unc-13 homolog D (C. elegans)
UROD uroporphyrinogen decarboxylase
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
VHL von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
WDPCP WD repeat containing planar cell polarity effector
WDR19 WD repeat domain 19
WDR34 WD repeat domain 34
WDR35 WD repeat domain 35
WDR60 WD repeat domain 60
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WRAP53 WD repeat containing, antisense to TP53
WT1 Wilms tumor 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa