Amelogenesis Imperfecta Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A dental enamel hypoplasia characterized by abnormal enamel formation. (Human Disease Ontology, DOID_2187)
External Link https://www.disgenet.org/browser/0/1/0/C0002452
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Genes

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

Symbol Name
ACPT acid phosphatase, testicular
ACTB actin, beta
ADAM10 ADAM metallopeptidase domain 10
AMBN ameloblastin (enamel matrix protein)
AMELX amelogenin, X-linked
AMELY amelogenin, Y-linked
AMTN amelotin
ARHGAP6 Rho GTPase activating protein 6
BMP4 bone morphogenetic protein 4
C4ORF26 chromosome 4 open reading frame 26
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNA2D1 calcium channel, voltage-dependent, alpha 2/delta subunit 1
CACNB2 calcium channel, voltage-dependent, beta 2 subunit
CKAP4 cytoskeleton-associated protein 4
CLDN16 claudin 16
CLDN19 claudin 19
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
COL17A1 collagen, type XVII, alpha 1
COL1A2 collagen, type I, alpha 2
CRX cone-rod homeobox
CSNK1D casein kinase 1, delta
CSNK1G2 casein kinase 1, gamma 2
CSNK1G3 casein kinase 1, gamma 3
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CYP2D6 cytochrome P450, family 2, subfamily D, polypeptide 6
CYP2D7 cytochrome P450, family 2, subfamily D, polypeptide 7 (gene/pseudogene)
DDIT3 DNA-damage-inducible transcript 3
DLX3 distal-less homeobox 3
DNAJC21 DnaJ (Hsp40) homolog, subfamily C, member 21
DPP6 dipeptidyl-peptidase 6
DSP desmoplakin
DSPP dentin sialophosphoprotein
EGFR epidermal growth factor receptor
ENAM enamelin
FAM20A family with sequence similarity 20, member A
FAM20C family with sequence similarity 20, member C
GH1 growth hormone 1
GPR68 G protein-coupled receptor 68
HEXIM1 hexamethylene bis-acetamide inducible 1
HPX hemopexin
HTN1 histatin 1
IFNG interferon, gamma
IL2 interleukin 2
ITGB4 integrin, beta 4
ITGB6 integrin, beta 6
KCND3 potassium channel, voltage gated Shal related subfamily D, member 3
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KLK4 kallikrein-related peptidase 4
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LTBP3 latent transforming growth factor beta binding protein 3
MMP20 matrix metallopeptidase 20
MMP25 matrix metallopeptidase 25
MSX2 msh homeobox 2
MYD88 myeloid differentiation primary response 88
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NMT1 N-myristoyltransferase 1
ORAI1 ORAI calcium release-activated calcium modulator 1
PEX1 peroxisomal biogenesis factor 1
PEX26 peroxisomal biogenesis factor 26
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRKCE protein kinase C, epsilon
RELT RELT tumor necrosis factor receptor
ROGDI rogdi homolog (Drosophila)
RPE65 retinal pigment epithelium-specific protein 65kDa
RPGR retinitis pigmentosa GTPase regulator
SACK1H scaffolding CK1 anchoring protein H
SCN1B sodium channel, voltage gated, type I beta subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SLC10A7 solute carrier family 10, member 7
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC24A3 solute carrier family 24 (sodium/potassium/calcium exchanger), member 3
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
STIM1 stromal interaction molecule 1
T T, brachyury homolog (mouse)
TBX21 T-box 21
TLR4 toll-like receptor 4
TMEM165 transmembrane protein 165
TP63 tumor protein p63
TUFT1 tuftelin 1
UVRAG UV radiation resistance associated
WDR72 WD repeat domain 72
YY1 YY1 transcription factor