Congenital Small Ears Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0152423
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Genes

132 genes associated with the disease Congenital Small Ears in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABHD5 abhydrolase domain containing 5
ADNP activity-dependent neuroprotector homeobox
AGA aspartylglucosaminidase
AMER1 APC membrane recruitment protein 1
ASXL1 additional sex combs like transcriptional regulator 1
ASXL2 additional sex combs like transcriptional regulator 2
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
AUTS2 autism susceptibility candidate 2
B3GAT3 beta-1,3-glucuronyltransferase 3
BMP2 bone morphogenetic protein 2
BMP5 bone morphogenetic protein 5
BPTF bromodomain PHD finger transcription factor
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CDC45 cell division cycle 45
CDC6 cell division cycle 6
CDT1 chromatin licensing and DNA replication factor 1
CENPJ centromere protein J
CHD7 chromodomain helicase DNA binding protein 7
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CNOT1 CCR4-NOT transcription complex, subunit 1
COG1 component of oligomeric golgi complex 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DCHS1 dachsous cadherin-related 1
DHODH dihydroorotate dehydrogenase (quinone)
DYRK1A dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
EDNRA endothelin receptor type A
EFTUD2 elongation factor Tu GTP binding domain containing 2
EIF4A3 eukaryotic translation initiation factor 4A3
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FAT4 FAT atypical cadherin 4
FBXO11 F-box protein 11
FGF10 fibroblast growth factor 10
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKRP fukutin related protein
FKTN fukutin
FOXI3 forkhead box I3
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA1 GATA binding protein 1 (globin transcription factor 1)
GBA glucosidase, beta, acid
GDF6 growth differentiation factor 6
GLI3 GLI family zinc finger 3
GMNN geminin, DNA replication inhibitor
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GRIP1 glutamate receptor interacting protein 1
GSC goosecoid homeobox
HDAC8 histone deacetylase 8
HMX1 H6 family homeobox 1
HNRNPK heterogeneous nuclear ribonucleoprotein K
HOXA1 homeobox A1
HOXA13 homeobox A13
HOXA2 homeobox A2
HS6ST2 heparan sulfate 6-O-sulfotransferase 2
HSPA9 heat shock 70kDa protein 9 (mortalin)
INTU inturned planar cell polarity protein
ISPD isoprenoid synthase domain containing
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCTD1 potassium channel tetramerization domain containing 1
KDM6A lysine (K)-specific demethylase 6A
KIF15 kinesin family member 15
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
LARGE like-glycosyltransferase
LAS1L LAS1-like (S. cerevisiae)
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LMBRD1 LMBR1 domain containing 1
MAPRE2 microtubule-associated protein, RP/EB family, member 2
MBD5 methyl-CpG binding domain protein 5
MCM5 minichromosome maintenance complex component 5
MED12 mediator complex subunit 12
MSX2 msh homeobox 2
NELFA negative elongation factor complex member A
NIN ninein (GSK3B interacting protein)
NKX3-2 NK3 homeobox 2
NSD2 nuclear receptor binding SET domain protein 2
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
OTX2 orthodenticle homeobox 2
PAK1 p21 protein (Cdc42/Rac)-activated kinase 1
PAM16 presequence translocase-associated motor 16 homolog (S. cerevisiae)
PBX1 pre-B-cell leukemia homeobox 1
PCGF2 polycomb group ring finger 2
PCNT pericentrin
PEX6 peroxisomal biogenesis factor 6
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLCB4 phospholipase C, beta 4
PLEC plectin
POC1A POC1 centriolar protein A
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLR1A polymerase (RNA) I polypeptide A, 194kDa
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PRDM16 PR domain containing 16
PRKRA protein kinase, interferon-inducible double stranded RNA dependent activator
PSMD12 proteasome (prosome, macropain) 26S subunit, non-ATPase, 12
RBM10 RNA binding motif protein 10
RERE arginine-glutamic acid dipeptide (RE) repeats
RPS19 ribosomal protein S19
RPS28 ribosomal protein S28
RSPO2 R-spondin 2
RSPRY1 ring finger and SPRY domain containing 1
SALL1 spalt-like transcription factor 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SF3B4 splicing factor 3b, subunit 4, 49kDa
SIX1 SIX homeobox 1
SIX2 SIX homeobox 2
SIX5 SIX homeobox 5
SKI SKI proto-oncogene
SMAD4 SMAD family member 4
STAG2 stromal antigen 2
TCOF1 Treacher Collins-Franceschetti syndrome 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TP63 tumor protein p63
TSR2 TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)
TTC37 tetratricopeptide repeat domain 37
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
TWSG1 twisted gastrulation BMP signaling modulator 1
WIF1 WNT inhibitory factor 1
WNT3 wingless-type MMTV integration site family, member 3
ZMPSTE24 zinc metallopeptidase STE24