developmental regression Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Loss of developmental skills, as manifested by loss of developmental milestones. (Human Phenotype Ontology, HP_0002376)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002376
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Genes

151 genes associated with the developmental regression phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTB actin, beta
ADAR adenosine deaminase, RNA-specific
AGA aspartylglucosaminidase
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
APP amyloid beta (A4) precursor protein
ASPA aspartoacylase
ATP7A ATPase, Cu++ transporting, alpha polypeptide
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C12ORF65 chromosome 12 open reading frame 65
C4A complement component 4A (Rodgers blood group)
CDKL5 cyclin-dependent kinase-like 5
CECR1 cat eye syndrome chromosome region, candidate 1
CHD2 chromodomain helicase DNA binding protein 2
CISD2 CDGSH iron sulfur domain 2
CLIP2 CAP-GLY domain containing linker protein 2
CLN5 ceroid-lipofuscinosis, neuronal 5
CLN8 ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)
COASY CoA synthase
COX1
COX2
COX3
CP ceruloplasmin (ferroxidase)
CYP27A1 cytochrome P450, family 27, subfamily A, polypeptide 1
DCTN1 dynactin 1
EARS2 glutamyl-tRNA synthetase 2, mitochondrial
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
ELN elastin
ETHE1 ethylmalonic encephalopathy 1
FMR1 fragile X mental retardation 1
FOLR1 folate receptor 1 (adult)
FOXG1 forkhead box G1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FTL ferritin, light polypeptide
GALC galactosylceramidase
GBA glucosidase, beta, acid
GBE1 glucan (1,4-alpha-), branching enzyme 1
GCDH glutaryl-CoA dehydrogenase
GFAP glial fibrillary acidic protein
GLA galactosidase, alpha
GMPPA GDP-mannose pyrophosphorylase A
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HLA-B major histocompatibility complex, class I, B
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
HTT huntingtin
IFIH1 interferon induced with helicase C domain 1
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
IRX5 iroquois homeobox 5
KCNT1 potassium channel, sodium activated subfamily T, member 1
L2HGDH L-2-hydroxyglutarate dehydrogenase
LIMK1 LIM domain kinase 1
LMBRD1 LMBR1 domain containing 1
LMNA lamin A/C
LYRM7 LYR motif containing 7
LYST lysosomal trafficking regulator
MBTPS2 membrane-bound transcription factor peptidase, site 2
MECP2 methyl CpG binding protein 2
MEFV Mediterranean fever
MLH1 mutL homolog 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
NAGA N-acetylgalactosaminidase, alpha-
ND1
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
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH3 notch 3
NTNG1 netrin G1
NUBPL nucleotide binding protein-like
NUP62 nucleoporin 62kDa
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
PHYH phytanoyl-CoA 2-hydroxylase
PLA2G6 phospholipase A2, group VI (cytosolic, calcium-independent)
PMS2 PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
PNPLA6 patatin-like phospholipase domain containing 6
POC1A POC1 centriolar protein A
POLG polymerase (DNA directed), gamma
PSAP prosaposin
RFC2 replication factor C (activator 1) 2, 40kDa
RNF216 ring finger protein 216
ROGDI rogdi homolog (Drosophila)
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SERAC1 serine active site containing 1
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A3 solute carrier family 2 (facilitated glucose transporter), member 3
ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
STAT4 signal transducer and activator of transcription 4
STUB1 STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase
STXBP1 syntaxin binding protein 1
SUMF1 sulfatase modifying factor 1
SYNGAP1 synaptic Ras GTPase activating protein 1
TBC1D24 TBC1 domain family, member 24
TBL2 transducin (beta)-like 2
TLR4 toll-like receptor 4
TPP1 tripeptidyl peptidase I
TREM2 triggering receptor expressed on myeloid cells 2
TREX1 three prime repair exonuclease 1
TTPA tocopherol (alpha) transfer protein
TUFM Tu translation elongation factor, mitochondrial
TYROBP TYRO protein tyrosine kinase binding protein
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
WFS1 Wolfram syndrome 1 (wolframin)
ZBTB20 zinc finger and BTB domain containing 20