abnormal tongue morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor (Mammalian Phenotype Ontology, MP_0000762)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000762
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Genes

71 gene mutations causing the abnormal tongue morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACAN aggrecan
BDNF brain-derived neurotrophic factor
BNC2 basonuclin 2
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CAPN6 calpain 6
COL11A1 collagen, type XI, alpha 1
COL7A1 collagen, type VII, alpha 1
CREB3L2 cAMP responsive element binding protein 3-like 2
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
DLX5 distal-less homeobox 5
DST dystonin
ECE1 endothelin converting enzyme 1
EDAR ectodysplasin A receptor
EDN1 endothelin 1
EDNRA endothelin receptor type A
EGFR epidermal growth factor receptor
FGF10 fibroblast growth factor 10
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FOXF2 forkhead box F2
FUZ fuzzy planar cell polarity protein
GAB1 GRB2-associated binding protein 1
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GSC goosecoid homeobox
HAND2 heart and neural crest derivatives expressed 2
HHAT hedgehog acyltransferase
HOXA2 homeobox A2
HOXA3 homeobox A3
HOXC13 homeobox C13
IFT27 intraflagellar transport 27
IRF6 interferon regulatory factor 6
ITGB4 integrin, beta 4
KDF1 keratinocyte differentiation factor 1
KLF4 Kruppel-like factor 4 (gut)
KRT16 keratin 16, type I
KRT4 keratin 4, type II
KRT5 keratin 5, type II
KRT6B keratin 6B, type II
LAMB3 laminin, beta 3
LARGE like-glycosyltransferase
LGR5 leucine-rich repeat containing G protein-coupled receptor 5
LMNA lamin A/C
LRP6 low density lipoprotein receptor-related protein 6
MET MET proto-oncogene, receptor tyrosine kinase
NGFR nerve growth factor receptor
OTX2 orthodenticle homeobox 2
PAX3 paired box 3
PITX1 paired-like homeodomain 1
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
PRDM16 PR domain containing 16
PTH1R parathyroid hormone 1 receptor
PTHLH parathyroid hormone-like hormone
RSPO2 R-spondin 2
RYK receptor-like tyrosine kinase
SALL3 spalt-like transcription factor 3
SATB2 SATB homeobox 2
SFN stratifin
SHARPIN SHANK-associated RH domain interactor
SIM2 single-minded family bHLH transcription factor 2
SIX1 SIX homeobox 1
SLC27A4 solute carrier family 27 (fatty acid transporter), member 4
SLC35D1 solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1
SOX2 SRY (sex determining region Y)-box 2
SOX9 SRY (sex determining region Y)-box 9
SPTBN1 spectrin, beta, non-erythrocytic 1
ST14 suppression of tumorigenicity 14 (colon carcinoma)
TBX22 T-box 22
TP53 tumor protein p53
TP63 tumor protein p63
WNT5A wingless-type MMTV integration site family, member 5A