abnormality of cell physiology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality in a cellular process. (Human Phenotype Ontology, HP_0011017)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011017
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Genes

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

Symbol Name
ACAD8 acyl-CoA dehydrogenase family, member 8
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADVL acyl-CoA dehydrogenase, very long chain
ADA adenosine deaminase
AGK acylglycerol kinase
AICDA activation-induced cytidine deaminase
AK2 adenylate kinase 2
ATM ATM serine/threonine kinase
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
B2M beta-2-microglobulin
BLM Bloom syndrome, RecQ helicase-like
BLNK B-cell linker
BOLA3 bolA family member 3
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BTK Bruton agammaglobulinemia tyrosine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CA2 carbonic anhydrase II
CAMKMT calmodulin-lysine N-methyltransferase
CARD11 caspase recruitment domain family, member 11
CASP10 caspase 10, apoptosis-related cysteine peptidase
CASP8 caspase 8, apoptosis-related cysteine peptidase
CCBE1 collagen and calcium binding EGF domains 1
CD19 CD19 molecule
CD27 CD27 molecule
CD40 CD40 molecule, TNF receptor superfamily member 5
CD40LG CD40 ligand
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD81 CD81 molecule
CDAN1 codanin 1
CDSN corneodesmosin
CECR1 cat eye syndrome chromosome region, candidate 1
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CIITA class II, major histocompatibility complex, transactivator
CLCN7 chloride channel, voltage-sensitive 7
CLN3 ceroid-lipofuscinosis, neuronal 3
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN6 ceroid-lipofuscinosis, neuronal 6, late infantile, variant
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
CNBP CCHC-type zinc finger, nucleic acid binding protein
COG6 component of oligomeric golgi complex 6
COL1A1 collagen, type I, alpha 1
COX1
COX2
COX3
CPT2 carnitine palmitoyltransferase 2
CR2 complement component (3d/Epstein Barr virus) receptor 2
CTNND2 catenin (cadherin-associated protein), delta 2
CTNS cystinosin, lysosomal cystine transporter
CXCR4 chemokine (C-X-C motif) receptor 4
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DCLRE1C DNA cross-link repair 1C
DCTN4 dynactin 4 (p62)
DDB2 damage-specific DNA binding protein 2, 48kDa
DGUOK deoxyguanosine kinase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK8 dedicator of cytokinesis 8
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
ELANE elastase, neutrophil expressed
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
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
ERCC8 excision repair cross-complementation group 8
ERMAP erythroblast membrane-associated protein (Scianna blood group)
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
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)
FAT4 FAT atypical cadherin 4
FBXL4 F-box and leucine-rich repeat protein 4
FMR1 fragile X mental retardation 1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FXN frataxin
GBA glucosidase, beta, acid
GFER growth factor, augmenter of liver regeneration
GJA1 gap junction protein, alpha 1, 43kDa
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GTF2H5 general transcription factor IIH, polypeptide 5
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HMGCL 3-hydroxymethyl-3-methylglutaryl-CoA lyase
ICOS inducible T-cell co-stimulator
IFIH1 interferon induced with helicase C domain 1
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IKBKB inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL21 interleukin 21
IL2RA interleukin 2 receptor, alpha
IL2RG interleukin 2 receptor, gamma
ISCU iron-sulfur cluster assembly enzyme
ITK IL2-inducible T-cell kinase
JAK3 Janus kinase 3
KCTD7 potassium channel tetramerization domain containing 7
KLHDC8B kelch domain containing 8B
KRT1 keratin 1, type II
KRT9 keratin 9, type I
LAMTOR2 late endosomal/lysosomal adaptor, MAPK and MTOR activator 2
LBR lamin B receptor
LIG4 ligase IV, DNA, ATP-dependent
LMNB1 lamin B1
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRRC8A leucine rich repeat containing 8 family, member A
MAGT1 magnesium transporter 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MCPH1 microcephalin 1
MECP2 methyl CpG binding protein 2
MOGS mannosyl-oligosaccharide glucosidase
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
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
MVK mevalonate kinase
MYD88 myeloid differentiation primary response 88
NBN nibrin
ND1
NDRG1 N-myc downstream regulated 1
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
NF1 neurofibromin 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NFU1 NFU1 iron-sulfur cluster scaffold
NHEJ1 nonhomologous end-joining factor 1
NKX2-5 NK2 homeobox 5
NUBPL nucleotide binding protein-like
OCRL oculocerebrorenal syndrome of Lowe
PALB2 partner and localizer of BRCA2
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PDHX pyruvate dehydrogenase complex, component X
PDP1 pyruvate dehyrogenase phosphatase catalytic subunit 1
PEX5 peroxisomal biogenesis factor 5
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLCG2 phospholipase C, gamma 2 (phosphatidylinositol-specific)
PMM2 phosphomannomutase 2
PNP purine nucleoside phosphorylase
POLA1 polymerase (DNA directed), alpha 1, catalytic subunit
POLG polymerase (DNA directed), gamma
PPM1B protein phosphatase, Mg2+/Mn2+ dependent, 1B
PREPL prolyl endopeptidase-like
PRKCD protein kinase C, delta
PSG1 pregnancy specific beta-1-glycoprotein 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PSTPIP1 proline-serine-threonine phosphatase interacting protein 1
PTRF polymerase I and transcript release factor
RAB27A RAB27A, member RAS oncogene family
RAD50 RAD50 homolog (S. cerevisiae)
RAD51C RAD51 paralog C
RAG1 recombination activating gene 1
RAG2 recombination activating gene 2
RAI1 retinoic acid induced 1
RB1 retinoblastoma 1
RBM8A RNA binding motif protein 8A
RFX5 regulatory factor X, 5 (influences HLA class II expression)
RFXANK regulatory factor X-associated ankyrin-containing protein
RFXAP regulatory factor X-associated protein
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RNF168 ring finger protein 168, E3 ubiquitin protein ligase
SCARB2 scavenger receptor class B, member 2
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEC23B Sec23 homolog B (S. cerevisiae)
SEMA5A sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A
SERAC1 serine active site containing 1
SETX senataxin
SFTPA2 surfactant protein A2
SH2D1A SH2 domain containing 1A
SHH sonic hedgehog
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC39A4 solute carrier family 39 (zinc transporter), member 4
SLC3A1 solute carrier family 3 (amino acid transporter heavy chain), member 1
SLC46A1 solute carrier family 46 (folate transporter), member 1
SLX4 SLX4 structure-specific endonuclease subunit
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SP110 SP110 nuclear body protein
SPINK5 serine peptidase inhibitor, Kazal type 5
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STX1A syntaxin 1A (brain)
STXBP2 syntaxin binding protein 2
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TAZ tafazzin
TBX1 T-box 1
TBX4 T-box 4
TCF3 transcription factor 3
TCN2 transcobalamin II
TGFB1 transforming growth factor, beta 1
TK2 thymidine kinase 2, mitochondrial
TMEM173 transmembrane protein 173
TMEM70 transmembrane protein 70
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TPP1 tripeptidyl peptidase I
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TSC1 tuberous sclerosis 1
TSFM Ts translation elongation factor, mitochondrial
TYK2 tyrosine kinase 2
UMPS uridine monophosphate synthetase
UNC13D unc-13 homolog D (C. elegans)
UNG uracil-DNA glycosylase
UVSSA UV-stimulated scaffold protein A
VPS45 vacuolar protein sorting 45 homolog (S. cerevisiae)
WAS Wiskott-Aldrich syndrome
WIPF1 WAS/WASL interacting protein family, member 1
XIAP X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
XPA xeroderma pigmentosum, complementation group A
XPC xeroderma pigmentosum, complementation group C
ZAP70 zeta-chain (TCR) associated protein kinase 70kDa
ZBTB24 zinc finger and BTB domain containing 24