Posteriorly Rotated Ear Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0431478
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Genes

174 genes associated with the disease Posteriorly Rotated Ear in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADAMTS18 ADAM metallopeptidase with thrombospondin type 1 motif, 18
ALG9 ALG9, alpha-1,2-mannosyltransferase
AMER1 APC membrane recruitment protein 1
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARID1B AT rich interactive domain 1B (SWI1-like)
ASCL1 achaete-scute family bHLH transcription factor 1
ASXL1 additional sex combs like transcriptional regulator 1
ASXL2 additional sex combs like transcriptional regulator 2
ASXL3 additional sex combs like transcriptional regulator 3
ATN1 atrophin 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GLCT beta 3-glucosyltransferase
B3GNT1
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BCOR BCL6 corepressor
BMP2 bone morphogenetic protein 2
BRAF B-Raf proto-oncogene, serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
C2CD3 C2 calcium-dependent domain containing 3
C5ORF42 chromosome 5 open reading frame 42
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCNK cyclin K
CD96 CD96 molecule
CDC42 cell division cycle 42
CDC45 cell division cycle 45
CDC6 cell division cycle 6
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast)
CDK10 cyclin-dependent kinase 10
CDK13 cyclin-dependent kinase 13
CDT1 chromatin licensing and DNA replication factor 1
CHD7 chromodomain helicase DNA binding protein 7
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLASP1 cytoplasmic linker associated protein 1
COG5 component of oligomeric golgi complex 5
COL4A1 collagen, type IV, alpha 1
CPT2 carnitine palmitoyltransferase 2
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DHCR24 24-dehydrocholesterol reductase
DHCR7 7-dehydrocholesterol reductase
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DOK7 docking protein 7
DPF2 D4, zinc and double PHD fingers family 2
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
EBF3 early B-cell factor 3
ECE1 endothelin converting enzyme 1
EDN3 endothelin 3
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXOSC2 exosome component 2
FAM20C family with sequence similarity 20, member C
FBN1 fibrillin 1
FBXO11 F-box protein 11
FGFR1 fibroblast growth factor receptor 1
FHL1 four and a half LIM domains 1
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FRMD4A FERM domain containing 4A
FZD2 frizzled class receptor 2
GDNF glial cell derived neurotrophic factor
GMNN geminin, DNA replication inhibitor
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GPC6 glypican 6
GPX4 glutathione peroxidase 4
HERC1 HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSPG2 heparan sulfate proteoglycan 2
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
ISPD isoprenoid synthase domain containing
ITCH itchy E3 ubiquitin protein ligase
KAT6A K(lysine) acetyltransferase 6A
KAT6B K(lysine) acetyltransferase 6B
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1
KDM6A lysine (K)-specific demethylase 6A
KIAA0195 KIAA0195
KIAA1109 KIAA1109
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LARGE like-glycosyltransferase
LRP2 low density lipoprotein receptor-related protein 2
LZTR1 leucine-zipper-like transcription regulator 1
MAB21L1 mab-21-like 1 (C. elegans)
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPRE2 microtubule-associated protein, RP/EB family, member 2
MBTPS1 membrane-bound transcription factor peptidase, site 1
MED25 mediator complex subunit 25
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MITF microphthalmia-associated transcription factor
MPDZ multiple PDZ domain protein
MRAS muscle RAS oncogene homolog
MRPS22 mitochondrial ribosomal protein S22
MUSK muscle, skeletal, receptor tyrosine kinase
MVK mevalonate kinase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYOD1 myogenic differentiation 1
NF1 neurofibromin 1
NOTCH3 notch 3
NSDHL NAD(P) dependent steroid dehydrogenase-like
NUP88 nucleoporin 88kDa
NXN nucleoredoxin
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PEX1 peroxisomal biogenesis factor 1
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PHIP pleckstrin homology domain interacting protein
PHOX2B paired-like homeobox 2b
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PIGS phosphatidylinositol glycan anchor biosynthesis, class S
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PLAA phospholipase A2-activating protein
PLCB4 phospholipase C, beta 4
POGZ pogo transposable element with ZNF domain
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PPM1D protein phosphatase, Mg2+/Mn2+ dependent, 1D
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PPP2R3C protein phosphatase 2, regulatory subunit B'', gamma
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PUF60 poly-U binding splicing factor 60KDa
PYCR1 pyrroline-5-carboxylate reductase 1
QARS1 glutaminyl-tRNA synthetase 1
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAPSN receptor-associated protein of the synapse
RBM10 RNA binding motif protein 10
RET ret proto-oncogene
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS28 ribosomal protein S28
RUSC2 RUN and SH3 domain containing 2
SF3B4 splicing factor 3b, subunit 4, 49kDa
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SIX2 SIX homeobox 2
SKI SKI proto-oncogene
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SMG9 SMG9 nonsense mediated mRNA decay factor
SMOC1 SPARC related modular calcium binding 1
SNRPB small nuclear ribonucleoprotein polypeptides B and B1
SOX11 SRY (sex determining region Y)-box 11
SOX4 SRY (sex determining region Y)-box 4
SOX5 SRY (sex determining region Y)-box 5
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SRCAP Snf2-related CREBBP activator protein
SYNGAP1 synaptic Ras GTPase activating protein 1
TAPT1 transmembrane anterior posterior transformation 1
TBCE tubulin folding cofactor E
TBL1XR1 transducin (beta)-like 1 X-linked receptor 1
TCF20 transcription factor 20 (AR1)
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TLK2 tousled-like kinase 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM165 transmembrane protein 165
TMEM237 transmembrane protein 237
TMEM5 transmembrane protein 5
TRRAP transformation/transcription domain-associated protein
TTPA tocopherol (alpha) transfer protein
TUBB tubulin, beta class I
UBA5 ubiquitin-like modifier activating enzyme 5
UNC80 unc-80 homolog (C. elegans)
USP9X ubiquitin specific peptidase 9, X-linked
WAC WW domain containing adaptor with coiled-coil
WNT5A wingless-type MMTV integration site family, member 5A
XYLT2 xylosyltransferase II
YY1 YY1 transcription factor