pace of progression Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003679
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Genes

266 genes associated with the pace of progression phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ABHD12 abhydrolase domain containing 12
ADCK4 aarF domain containing kinase 4
ADK adenosine kinase
AFG3L2 AFG3-like AAA ATPase 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AIMP1 aminoacyl tRNA synthetase complex-interacting multifunctional protein 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
ANO5 anoctamin 5
ANTXR2 anthrax toxin receptor 2
AP4B1 adaptor-related protein complex 4, beta 1 subunit
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit
AR androgen receptor
ARHGDIA Rho GDP dissociation inhibitor (GDI) alpha
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATL1 atlastin GTPase 1
ATP13A2 ATPase type 13A2
ATP2B3 ATPase, Ca++ transporting, plasma membrane 3
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATXN3 ataxin 3
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BAG3 BCL2-associated athanogene 3
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
C9ORF72 chromosome 9 open reading frame 72
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CECR1 cat eye syndrome chromosome region, candidate 1
CFHR5 complement factor H-related 5
CFL2 cofilin 2 (muscle)
CHKB choline kinase beta
CHMP2B charged multivesicular body protein 2B
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CLCN5 chloride channel, voltage-sensitive 5
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
COASY CoA synthase
COCH cochlin
COL4A3 collagen, type IV, alpha 3 (Goodpasture antigen)
COL4A4 collagen, type IV, alpha 4
COL4A5 collagen, type IV, alpha 5
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COQ6 coenzyme Q6 monooxygenase
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CRYAB crystallin, alpha B
CSF1R colony stimulating factor 1 receptor
CTC1 CTS telomere maintenance complex component 1
CTSF cathepsin F
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DARS aspartyl-tRNA synthetase
DARS2 aspartyl-tRNA synthetase 2, mitochondrial
DCTN1 dynactin 1
DDHD1 DDHD domain containing 1
DDHD2 DDHD domain containing 2
DES desmin
DGKE diacylglycerol kinase, epsilon 64kDa
DIABLO diablo, IAP-binding mitochondrial protein
DNA2 DNA replication helicase/nuclease 2
DNAJB2 DnaJ (Hsp40) homolog, subfamily B, member 2
DNAJB6 DnaJ (Hsp40) homolog, subfamily B, member 6
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNM2 dynamin 2
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DYNC1H1 dynein, cytoplasmic 1, heavy chain 1
DYSF dysferlin
EEF2 eukaryotic translation elongation factor 2
EMD emerin
EPM2A epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
ERLIN2 ER lipid raft associated 2
FA2H fatty acid 2-hydroxylase
FAM134B family with sequence similarity 134, member B
FAN1 FANCD2/FANCI-associated nuclease 1
FBXO38 F-box protein 38
FBXO7 F-box protein 7
FGF14 fibroblast growth factor 14
FHL1 four and a half LIM domains 1
FKTN fukutin
FLNC filamin C, gamma
FLVCR1 feline leukemia virus subgroup C cellular receptor 1
FN1 fibronectin 1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FTL ferritin, light polypeptide
FZD4 frizzled class receptor 4
GAN gigaxonin
GARS glycyl-tRNA synthetase
GBA2 glucosidase, beta (bile acid) 2
GBE1 glucan (1,4-alpha-), branching enzyme 1
GDAP1 ganglioside induced differentiation associated protein 1
GJB1 gap junction protein, beta 1, 32kDa
GNAS GNAS complex locus
GNB4 guanine nucleotide binding protein (G protein), beta polypeptide 4
GNS glucosamine (N-acetyl)-6-sulfatase
GOSR2 golgi SNAP receptor complex member 2
GRHL2 grainyhead-like 2 (Drosophila)
GRM1 glutamate receptor, metabotropic 1
GRN granulin
HEPACAM hepatic and glial cell adhesion molecule
HINT1 histidine triad nucleotide binding protein 1
HK1 hexokinase 1
HNRNPDL heterogeneous nuclear ribonucleoprotein D-like
HOXB1 homeobox B1
HSPB1 heat shock 27kDa protein 1
HSPB3 heat shock 27kDa protein 3
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
ILDR1 immunoglobulin-like domain containing receptor 1
INF2 inverted formin, FH2 and WH2 domain containing
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KBTBD13 kelch repeat and BTB (POZ) domain containing 13
KCNC3 potassium channel, voltage gated Shaw related subfamily C, member 3
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNQ4 potassium channel, voltage gated KQT-like subfamily Q, member 4
KCNT1 potassium channel, sodium activated subfamily T, member 1
KCTD7 potassium channel tetramerization domain containing 7
KIAA0196 KIAA0196
KIAA0226 KIAA0226
KIF1A kinesin family member 1A
KIF1B kinesin family member 1B
KIF1C kinesin family member 1C
KIF5A kinesin family member 5A
KRT12 keratin 12, type I
KRT3 keratin 3, type II
LEMD3 LEM domain containing 3
LMNA lamin A/C
LMNB1 lamin B1
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRRK2 leucine-rich repeat kinase 2
LRSAM1 leucine rich repeat and sterile alpha motif containing 1
MECP2 methyl CpG binding protein 2
MED17 mediator complex subunit 17
MFN2 mitofusin 2
MFSD8 major facilitator superfamily domain containing 8
MGME1 mitochondrial genome maintenance exonuclease 1
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPV17 MpV17 mitochondrial inner membrane protein
MPZ myelin protein zero
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MTAP methylthioadenosine phosphorylase
MTPAP mitochondrial poly(A) polymerase
MUSK muscle, skeletal, receptor tyrosine kinase
MYH14 myosin, heavy chain 14, non-muscle
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYO1E myosin IE
MYOT myotilin
NALCN sodium leak channel, non selective
NBEAL2 neurobeachin-like 2
NDUFA10 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa
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
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF6 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
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)
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)
NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NOL3 nucleolar protein 3 (apoptosis repressor with CARD domain)
NOP56 NOP56 ribonucleoprotein
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NPHS2 nephrosis 2, idiopathic, steroid-resistant (podocin)
PABPN1 poly(A) binding protein, nuclear 1
PANK2 pantothenate kinase 2
PARK7 parkinson protein 7
PDE8B phosphodiesterase 8B
PDGFB platelet-derived growth factor beta polypeptide
PDK3 pyruvate dehydrogenase kinase, isozyme 3
PDYN prodynorphin
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PINK1 PTEN induced putative kinase 1
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCE1 phospholipase C, epsilon 1
PLEC plectin
PLEKHG5 pleckstrin homology domain containing, family G (with RhoGef domain) member 5
PLP1 proteolipid protein 1
PMP22 peripheral myelin protein 22
PNPLA2 patatin-like phospholipase domain containing 2
PNPLA6 patatin-like phospholipase domain containing 6
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
PRICKLE1 prickle homolog 1 (Drosophila)
PRICKLE2 prickle homolog 2 (Drosophila)
PRKCG protein kinase C, gamma
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PRNP prion protein
PRX periaxin
PSEN1 presenilin 1
RAPSN receptor-associated protein of the synapse
RARS2 arginyl-tRNA synthetase 2, mitochondrial
REEP2 receptor accessory protein 2
RNASET2 ribonuclease T2
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RTN2 reticulon 2
RYR1 ryanodine receptor 1 (skeletal)
SBF1 SET binding factor 1
SCARB2 scavenger receptor class B, member 2
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SEPN1 selenoprotein N, 1
SETX senataxin
SFTPB surfactant protein B
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SIGMAR1 sigma non-opioid intracellular receptor 1
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC20A2 solute carrier family 20 (phosphate transporter), member 2
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC33A1 solute carrier family 33 (acetyl-CoA transporter), member 1
SLC34A2 solute carrier family 34 (type II sodium/phosphate cotransporter), member 2
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SMAD9 SMAD family member 9
SMN1 survival of motor neuron 1, telomeric
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOST sclerostin
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SPTBN2 spectrin, beta, non-erythrocytic 2
STIM1 stromal interaction molecule 1
SURF1 surfeit 1
SYNJ1 synaptojanin 1
SYT14 synaptotagmin XIV
TARDBP TAR DNA binding protein
TBC1D24 TBC1 domain family, member 24
TBP TATA box binding protein
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TFG TRK-fused gene
TGM6 transglutaminase 6
TIA1 TIA1 cytotoxic granule-associated RNA binding protein
TK2 thymidine kinase 2, mitochondrial
TMEM43 transmembrane protein 43
TPP1 tripeptidyl peptidase I
TREX1 three prime repair exonuclease 1
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTN titin
TTR transthyretin
TUBB4A tubulin, beta 4A class IVa
TYMP thymidine phosphorylase
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UMOD uromodulin
VLDLR very low density lipoprotein receptor
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VRK1 vaccinia related kinase 1
WNK1 WNK lysine deficient protein kinase 1
WT1 Wilms tumor 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZFYVE26 zinc finger, FYVE domain containing 26
ZNF592 zinc finger protein 592