abnormality of the tracheobronchial system Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005607
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Genes

182 genes associated with the abnormality of the tracheobronchial system phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTSL2 ADAMTS-like 2
AMER1 APC membrane recruitment protein 1
ARMC4 armadillo repeat containing 4
ATM ATM serine/threonine kinase
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BLM Bloom syndrome, RecQ helicase-like
BLNK B-cell linker
BMPER BMP binding endothelial regulator
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
C1R complement component 1, r subcomponent
C21ORF59 chromosome 21 open reading frame 59
CCDC103 coiled-coil domain containing 103
CCDC114 coiled-coil domain containing 114
CCDC39 coiled-coil domain containing 39
CCDC40 coiled-coil domain containing 40
CCDC65 coiled-coil domain containing 65
CCNO cyclin O
CD19 CD19 molecule
CD79A CD79a molecule, immunoglobulin-associated alpha
CD79B CD79b molecule, immunoglobulin-associated beta
CD81 CD81 molecule
CD8A CD8a molecule
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CLIP2 CAP-GLY domain containing linker protein 2
COL2A1 collagen, type II, alpha 1
COL7A1 collagen, type VII, alpha 1
CR2 complement component (3d/Epstein Barr virus) receptor 2
CTC1 CTS telomere maintenance complex component 1
CYBA cytochrome b-245, alpha polypeptide
CYBB cytochrome b-245, beta polypeptide
DDR2 discoidin domain receptor tyrosine kinase 2
DHCR7 7-dehydrocholesterol reductase
DICER1 dicer 1, ribonuclease type III
DKC1 dyskeratosis congenita 1, dyskerin
DLEC1 deleted in lung and esophageal cancer 1
DNAAF1 dynein, axonemal, assembly factor 1
DNAAF3 dynein, axonemal, assembly factor 3
DNAH11 dynein, axonemal, heavy chain 11
DNAI1 dynein, axonemal, intermediate chain 1
DNAI2 dynein, axonemal, intermediate chain 2
DNAL1 dynein, axonemal, light chain 1
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DRC1 dynein regulatory complex subunit 1
DYX1C1 dyslexia susceptibility 1 candidate 1
EBP emopamil binding protein (sterol isomerase)
EGFR epidermal growth factor receptor
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ERBB2 erb-b2 receptor tyrosine kinase 2
ERCC4 excision repair cross-complementation group 4
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
FBN1 fibrillin 1
FBN2 fibrillin 2
FERMT1 fermitin family member 1
FGF20 fibroblast growth factor 20
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FLNB filamin B, beta
FOXF1 forkhead box F1
FOXI1 forkhead box I1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GLI3 GLI family zinc finger 3
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC4 histone deacetylase 4
HESX1 HESX homeobox 1
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HYDIN HYDIN, axonemal central pair apparatus protein
HYLS1 hydrolethalus syndrome 1
ICOS inducible T-cell co-stimulator
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IGHM immunoglobulin heavy constant mu
IGLL1 immunoglobulin lambda-like polypeptide 1
IL21R interleukin 21 receptor
IL2RG interleukin 2 receptor, gamma
IRF1 interferon regulatory factor 1
ITGA8 integrin, alpha 8
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA3 laminin, alpha 3
LBR lamin B receptor
LIMK1 LIM domain kinase 1
LRBA LPS-responsive vesicle trafficking, beach and anchor containing
LRRC6 leucine rich repeat containing 6
LRRC8A leucine rich repeat containing 8 family, member A
LTBP4 latent transforming growth factor beta binding protein 4
MAP3K8 mitogen-activated protein kinase kinase kinase 8
MGP matrix Gla protein
MMP1 matrix metallopeptidase 1
MS4A1 membrane-spanning 4-domains, subfamily A, member 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NBN nibrin
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
NOTCH3 notch 3
ORC4 origin recognition complex, subunit 4
OTX2 orthodenticle homeobox 2
PALB2 partner and localizer of BRCA2
PARK2 parkin RBR E3 ubiquitin protein ligase
PAX3 paired box 3
PCNT pericentrin
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PGM3 phosphoglucomutase 3
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POR P450 (cytochrome) oxidoreductase
PPP2R1B protein phosphatase 2, regulatory subunit A, beta
PRKCD protein kinase C, delta
PROKR2 prokineticin receptor 2
PRRX1 paired related homeobox 1
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD51C RAD51 paralog C
RAI1 retinoic acid induced 1
RASSF1 Ras association (RalGDS/AF-6) domain family member 1
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPGR retinitis pigmentosa GTPase regulator
RSPH1 radial spoke head 1 homolog (Chlamydomonas)
RSPH4A radial spoke head 4 homolog A (Chlamydomonas)
RSPH9 radial spoke head 9 homolog (Chlamydomonas)
RTEL1 regulator of telomere elongation helicase 1
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SFTPA2 surfactant protein A2
SLC22A18 solute carrier family 22, member 18
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLX4 SLX4 structure-specific endonuclease subunit
SMAD4 SMAD family member 4
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SOX9 SRY (sex determining region Y)-box 9
SPAG1 sperm associated antigen 1
TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
TAPBP TAP binding protein (tapasin)
TBL2 transducin (beta)-like 2
TCF3 transcription factor 3
TCOF1 Treacher Collins-Franceschetti syndrome 1
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TNFRSF13B tumor necrosis factor receptor superfamily, member 13B
TNFRSF13C tumor necrosis factor receptor superfamily, member 13C
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
USB1 U6 snRNA biogenesis 1
WNT3 wingless-type MMTV integration site family, member 3
WNT7A wingless-type MMTV integration site family, member 7A
WRAP53 WD repeat containing, antisense to TP53
ZIC3 Zic family member 3
ZMYND10 zinc finger, MYND-type containing 10