abnormality of the larynx Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the larynx. (Human Phenotype Ontology, HP_0001600)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001600
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Genes

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

Symbol Name
ADAMTSL2 ADAMTS-like 2
AHDC1 AT hook, DNA binding motif, containing 1
AMER1 APC membrane recruitment protein 1
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
CHD7 chromodomain helicase DNA binding protein 7
CREBBP CREB binding protein
DCTN1 dynactin 1
DHCR7 7-dehydrocholesterol reductase
EDN1 endothelin 1
EIF4A3 eukaryotic translation initiation factor 4A3
FBN1 fibrillin 1
FERMT1 fermitin family member 1
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FLNB filamin B, beta
FOXE1 forkhead box E1
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GDAP1 ganglioside induced differentiation associated protein 1
GLI3 GLI family zinc finger 3
GRIP1 glutamate receptor interacting protein 1
HDAC4 histone deacetylase 4
HOXD13 homeobox D13
HSPG2 heparan sulfate proteoglycan 2
HYLS1 hydrolethalus syndrome 1
KAT6B K(lysine) acetyltransferase 6B
KIF22 kinesin family member 22
KIF7 kinesin family member 7
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
LBR lamin B receptor
LRP4 low density lipoprotein receptor-related protein 4
LTBP4 latent transforming growth factor beta binding protein 4
MATR3 matrin 3
MEIS2 Meis homeobox 2
MFN2 mitofusin 2
MGP matrix Gla protein
MKS1 Meckel syndrome, type 1
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
NEK1 NIMA-related kinase 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
PCNT pericentrin
PLG plasminogen
PMP22 peripheral myelin protein 22
POR P450 (cytochrome) oxidoreductase
PORCN porcupine homolog (Drosophila)
PRRX1 paired related homeobox 1
PRX periaxin
PTH1R parathyroid hormone 1 receptor
RAI1 retinoic acid induced 1
RARB retinoic acid receptor, beta
RHBDF2 rhomboid 5 homolog 2 (Drosophila)
SCARF2 scavenger receptor class F, member 2
SDHAF2 succinate dehydrogenase complex assembly factor 2
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
SETBP1 SET binding protein 1
SF3B4 splicing factor 3b, subunit 4, 49kDa
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC5A7 solute carrier family 5 (sodium/choline cotransporter), member 7
SMAD4 SMAD family member 4
SNIP1 Smad nuclear interacting protein 1
SOX9 SRY (sex determining region Y)-box 9
STRA6 stimulated by retinoic acid 6
TBX3 T-box 3
TCTN3 tectonic family member 3
TRPV4 transient receptor potential cation channel, subfamily V, member 4
UBE3B ubiquitin protein ligase E3B
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WNT3 wingless-type MMTV integration site family, member 3
WRN Werner syndrome, RecQ helicase-like