progressive disorder Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003676
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Genes

145 genes associated with the progressive disorder 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
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
AP5Z1 adaptor-related protein complex 5, zeta 1 subunit
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASNS asparagine synthetase (glutamine-hydrolyzing)
ATL1 atlastin GTPase 1
ATXN3 ataxin 3
B4GALNT1 beta-1,4-N-acetyl-galactosaminyl transferase 1
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
C10ORF2 chromosome 10 open reading frame 2
C12ORF65 chromosome 12 open reading frame 65
C19ORF12 chromosome 19 open reading frame 12
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
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
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CTC1 CTS telomere maintenance complex component 1
CTSF cathepsin F
CYP7B1 cytochrome P450, family 7, subfamily B, polypeptide 1
DARS aspartyl-tRNA synthetase
DDHD2 DDHD domain containing 2
DES desmin
DGKE diacylglycerol kinase, epsilon 64kDa
DIABLO diablo, IAP-binding mitochondrial protein
DNMT1 DNA (cytosine-5-)-methyltransferase 1
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
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
FHL1 four and a half LIM domains 1
FKTN fukutin
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FTL ferritin, light polypeptide
GBA2 glucosidase, beta (bile acid) 2
GNAS GNAS complex locus
GNS glucosamine (N-acetyl)-6-sulfatase
GOSR2 golgi SNAP receptor complex member 2
GRHL2 grainyhead-like 2 (Drosophila)
HINT1 histidine triad nucleotide binding protein 1
HK1 hexokinase 1
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INF2 inverted formin, FH2 and WH2 domain containing
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
KIF1C kinesin family member 1C
KIF5A kinesin family member 5A
LEMD3 LEM domain containing 3
LMNA lamin A/C
LMNB1 lamin B1
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
MECP2 methyl CpG binding protein 2
MED17 mediator complex subunit 17
MGME1 mitochondrial genome maintenance exonuclease 1
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MPV17 MpV17 mitochondrial inner membrane protein
MRE11A MRE11 meiotic recombination 11 homolog A (S. cerevisiae)
MTAP methylthioadenosine phosphorylase
MYH14 myosin, heavy chain 14, non-muscle
MYO1E myosin IE
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)
NIPA1 non imprinted in Prader-Willi/Angelman syndrome 1
NOP56 NOP56 ribonucleoprotein
PABPN1 poly(A) binding protein, nuclear 1
PDGFB platelet-derived growth factor beta polypeptide
PIK3R5 phosphoinositide-3-kinase, regulatory subunit 5
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PLCE1 phospholipase C, epsilon 1
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-)
PRICKLE1 prickle homolog 1 (Drosophila)
PRICKLE2 prickle homolog 2 (Drosophila)
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RRM2B ribonucleotide reductase M2 B (TP53 inducible)
RTN2 reticulon 2
SBF1 SET binding factor 1
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SETX senataxin
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
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
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SMAD9 SMAD family member 9
SMN1 survival of motor neuron 1, telomeric
SOST sclerostin
SPAST spastin
SPG11 spastic paraplegia 11 (autosomal recessive)
SURF1 surfeit 1
SYNJ1 synaptojanin 1
TBC1D24 TBC1 domain family, member 24
TBP TATA box binding protein
TK2 thymidine kinase 2, mitochondrial
TREX1 three prime repair exonuclease 1
TTR transthyretin
TUBB4A tubulin, beta 4A class IVa
TYMP thymidine phosphorylase
UCHL1 ubiquitin carboxyl-terminal esterase L1 (ubiquitin thiolesterase)
UMOD uromodulin
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
VRK1 vaccinia related kinase 1
WT1 Wilms tumor 1
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial
ZFYVE26 zinc finger, FYVE domain containing 26