abnormal pattern of respiration Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An anomaly of the rhythm or depth of breathing. (Human Phenotype Ontology, HP_0002793)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002793
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Genes

176 genes associated with the abnormal pattern of respiration phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA3 ATP-binding cassette, sub-family A (ABC1), member 3
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
ACADSB acyl-CoA dehydrogenase, short/branched chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACTA2 actin, alpha 2, smooth muscle, aorta
ADAMTSL2 ADAMTS-like 2
AHDC1 AT hook, DNA binding motif, containing 1
AHI1 Abelson helper integration site 1
AIP aryl hydrocarbon receptor interacting protein
ALPL alkaline phosphatase, liver/bone/kidney
AMER1 APC membrane recruitment protein 1
ARL13B ADP-ribosylation factor-like 13B
ASCL1 achaete-scute family bHLH transcription factor 1
ATP5A1 ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle
B9D1 B9 protein domain 1
BCHE butyrylcholinesterase
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BDNF brain-derived neurotrophic factor
BRAT1 BRCA1-associated ATM activator 1
BTD biotinidase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C5ORF42 chromosome 5 open reading frame 42
CA5A carbonic anhydrase VA, mitochondrial
CASR calcium-sensing receptor
CC2D2A coiled-coil and C2 domain containing 2A
CDKL5 cyclin-dependent kinase-like 5
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CHAT choline O-acetyltransferase
CISD2 CDGSH iron sulfur domain 2
CLCN7 chloride channel, voltage-sensitive 7
COL3A1 collagen, type III, alpha 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
COX2
COX3
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CRYAB crystallin, alpha B
CSF2RA colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)
CSPP1 centrosome and spindle pole associated protein 1
CTSD cathepsin D
CTSK cathepsin K
D2HGDH D-2-hydroxyglutarate dehydrogenase
DCTN1 dynactin 1
DMD dystrophin
DNA2 DNA replication helicase/nuclease 2
DPAGT1 dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)
DST dystonin
EDN3 endothelin 3
EPOR erythropoietin receptor
FBN1 fibrillin 1
FBP1 fructose-1,6-bisphosphatase 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKRP fukutin related protein
FOXG1 forkhead box G1
FOXRED1 FAD-dependent oxidoreductase domain containing 1
GBA glucosidase, beta, acid
GDNF glial cell derived neurotrophic factor
GLRA1 glycine receptor, alpha 1
GLUL glutamate-ammonia ligase
GNA11 guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
HLA-B major histocompatibility complex, class I, B
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HRAS Harvey rat sarcoma viral oncogene homolog
HSPD1 heat shock 60kDa protein 1 (chaperonin)
HSPG2 heparan sulfate proteoglycan 2
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IGHMBP2 immunoglobulin mu binding protein 2
IL12B interleukin 12B
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KAT6B K(lysine) acetyltransferase 6B
KIF7 kinesin family member 7
KRT14 keratin 14, type I
KRT5 keratin 5, type II
LIAS lipoic acid synthetase
LIFR leukemia inhibitory factor receptor alpha
LRPPRC leucine-rich pentatricopeptide repeat containing
MAGEL2 melanoma antigen family L2
MECP2 methyl CpG binding protein 2
MKS1 Meckel syndrome, type 1
MLX MLX, MAX dimerization protein
MOGS mannosyl-oligosaccharide glucosidase
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
ND1
NDN necdin, melanoma antigen (MAGE) family member
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)
NEB nebulin
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NPHP1 nephronophthisis 1 (juvenile)
NRXN1 neurexin 1
NTNG1 netrin G1
OFD1 oral-facial-digital syndrome 1
OXCT1 3-oxoacid CoA transferase 1
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PCK1 phosphoenolpyruvate carboxykinase 1 (soluble)
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PEX13 peroxisomal biogenesis factor 13
PEX5 peroxisomal biogenesis factor 5
PHOX2B paired-like homeobox 2b
PLCB4 phospholipase C, beta 4
PRNP prion protein
PSAP prosaposin
RAI1 retinoic acid induced 1
RARS2 arginyl-tRNA synthetase 2, mitochondrial
RET ret proto-oncogene
RPGRIP1L RPGRIP1-like
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
SCN4A sodium channel, voltage gated, type IV alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SEPN1 selenoprotein N, 1
SFTPB surfactant protein B
SFTPC surfactant protein C
SH3BP2 SH3-domain binding protein 2
SKI SKI proto-oncogene
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC6A5 solute carrier family 6 (neurotransmitter transporter), member 5
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX10 sorting nexin 10
SOD1 superoxide dismutase 1, soluble
SOX9 SRY (sex determining region Y)-box 9
SUCLG1 succinate-CoA ligase, alpha subunit
SURF1 surfeit 1
TCF4 transcription factor 4
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TECPR2 tectonin beta-propeller repeat containing 2
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNXB tenascin XB
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSPYL1 TSPY-like 1
TWIST1 twist family bHLH transcription factor 1
WFS1 Wolfram syndrome 1 (wolframin)
ZC4H2 zinc finger, C4H2 domain containing
ZNF423 zinc finger protein 423