Laryngomalacia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Laryngomalacia is a congenital abnormality of the laryngeal cartilage in which the cartilage is floppy and prolapses over the larynx during inspiration. (Human Phenotype Ontology, HP_0001601)
External Link https://www.disgenet.org/browser/0/1/0/C0264303
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Genes

66 genes associated with the disease Laryngomalacia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AFF4 AF4/FMR2 family, member 4
AGTPBP1 ATP/GTP binding protein 1
AHDC1 AT hook, DNA binding motif, containing 1
APC adenomatous polyposis coli
ARID1B AT rich interactive domain 1B (SWI1-like)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASXL3 additional sex combs like transcriptional regulator 3
ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
CHD7 chromodomain helicase DNA binding protein 7
CHN1 chimerin 1
COMT catechol-O-methyltransferase
CREBBP CREB binding protein
EP300 E1A binding protein p300
FGFR2 fibroblast growth factor receptor 2
FOXP1 forkhead box P1
GP1BB glycoprotein Ib (platelet), beta polypeptide
H3F3A H3 histone, family 3A
HDAC4 histone deacetylase 4
HIRA histone cell cycle regulator
HOXD13 homeobox D13
HSPG2 heparan sulfate proteoglycan 2
HYLS1 hydrolethalus syndrome 1
IL1B interleukin 1, beta
IL6 interleukin 6
JMJD1C jumonji domain containing 1C
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6A K(lysine) acetyltransferase 6A
KAT6B K(lysine) acetyltransferase 6B
KCNMA1 potassium channel, calcium activated large conductance subfamily M alpha, member 1
KIF7 kinesin family member 7
KMT2A lysine (K)-specific methyltransferase 2A
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
LMNA lamin A/C
LRP4 low density lipoprotein receptor-related protein 4
LTBP4 latent transforming growth factor beta binding protein 4
MAGEL2 melanoma antigen family L2
MECP2 methyl CpG binding protein 2
MEIS2 Meis homeobox 2
MIPEP mitochondrial intermediate peptidase
MYBPC1 myosin binding protein C, slow type
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
ORC6 origin recognition complex, subunit 6
PCNT pericentrin
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POR P450 (cytochrome) oxidoreductase
RPL10 ribosomal protein L10
RREB1 ras responsive element binding protein 1
SCARF2 scavenger receptor class F, member 2
SEC24C SEC24 family member C
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SETBP1 SET binding protein 1
SOX9 SRY (sex determining region Y)-box 9
TBCK TBC1 domain containing kinase
TBX1 T-box 1
TBX3 T-box 3
TCTN3 tectonic family member 3
UBE3B ubiquitin protein ligase E3B
UFD1 ubiquitin recognition factor in ER associated degradation 1
UNC80 unc-80 homolog (C. elegans)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WFS1 Wolfram syndrome 1 (wolframin)
WRN Werner syndrome, RecQ helicase-like