abnormality of the trachea Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002778
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Genes

104 genes associated with the abnormality of the trachea 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
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMPER BMP binding endothelial regulator
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
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
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
DKC1 dyskeratosis congenita 1, dyskerin
EBP emopamil binding protein (sterol isomerase)
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
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
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
HYLS1 hydrolethalus syndrome 1
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
ITGA8 integrin, alpha 8
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KIF22 kinesin family member 22
KIF7 kinesin family member 7
LAMA3 laminin, alpha 3
LBR lamin B receptor
LIMK1 LIM domain kinase 1
LTBP4 latent transforming growth factor beta binding protein 4
MGP matrix Gla protein
MMP1 matrix metallopeptidase 1
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NCF4 neutrophil cytosolic factor 4, 40kDa
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
PAX3 paired box 3
PCNT pericentrin
PDGFRB platelet-derived growth factor receptor, beta polypeptide
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PROKR2 prokineticin receptor 2
PRRX1 paired related homeobox 1
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD51C RAD51 paralog C
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RTEL1 regulator of telomere elongation helicase 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
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
TBL2 transducin (beta)-like 2
TCOF1 Treacher Collins-Franceschetti syndrome 1
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
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