Macroglossia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Increased length and width of the tongue. (Human Phenotype Ontology, HP_0000158)
External Link https://www.disgenet.org/browser/0/1/0/C0024421
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Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTB actin, beta
AGA aspartylglucosaminidase
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALG8 ALG8, alpha-1,3-glucosyltransferase
AMPD2 adenosine monophosphate deaminase 2
ARID1A AT rich interactive domain 1A (SWI-like)
ARSB arylsulfatase B
ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
ATRX alpha thalassemia/mental retardation syndrome X-linked
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CCDC47 coiled-coil domain containing 47
CDCA7 cell division cycle associated 7
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CLIP2 CAP-GLY domain containing linker protein 2
CTSC cathepsin C
CUL4B cullin 4B
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DUOX2 dual oxidase 2
DUOXA2 dual oxidase maturation factor 2
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ERLIN2 ER lipid raft associated 2
FDX2 ferredoxin 2
FIBP fibroblast growth factor (acidic) intracellular binding protein
FKRP fukutin related protein
FOXE1 forkhead box E1
FOXG1 forkhead box G1
FTO fat mass and obesity associated
FUCA1 fucosidase, alpha-L- 1, tissue
GAA glucosidase, alpha; acid
GATA1 GATA binding protein 1 (globin transcription factor 1)
GMPPB GDP-mannose pyrophosphorylase B
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GPC3 glypican 3
GPC4 glypican 4
GPR101 G protein-coupled receptor 101
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HELLS helicase, lymphoid-specific
HEXB hexosaminidase B (beta polypeptide)
HRAS Harvey rat sarcoma viral oncogene homolog
IDS iduronate 2-sulfatase
IDUA iduronidase, alpha-L-
IFT140 intraflagellar transport 140
IGF2 insulin-like growth factor 2
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
ISPD isoprenoid synthase domain containing
IYD iodotyrosine deiodinase
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KLLN killin, p53-regulated DNA replication inhibitor
LAMA2 laminin, alpha 2
LARGE like-glycosyltransferase
LIMK1 LIM domain kinase 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MED13L mediator complex subunit 13-like
NKX2-1 NK2 homeobox 1
NKX2-5 NK2 homeobox 5
NT5E 5'-nucleotidase, ecto (CD73)
PAX8 paired box 8
PEX1 peroxisomal biogenesis factor 1
PIGS phosphatidylinositol glycan anchor biosynthesis, class S
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLAGL1 pleiomorphic adenoma gene-like 1
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
POU1F1 POU class 1 homeobox 1
PQBP1 polyglutamine binding protein 1
PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
PTEN phosphatase and tensin homolog
RFC2 replication factor C (activator 1) 2, 40kDa
RNF125 ring finger protein 125, E3 ubiquitin protein ligase
ROR2 receptor tyrosine kinase-like orphan receptor 2
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEC23B Sec23 homolog B (S. cerevisiae)
SETBP1 SET binding protein 1
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SLC26A4 solute carrier family 26 (anion exchanger), member 4
SLC5A5 solute carrier family 5 (sodium/iodide cotransporter), member 5
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SNIP1 Smad nuclear interacting protein 1
SPRY2 sprouty homolog 2 (Drosophila)
TBL2 transducin (beta)-like 2
TG thyroglobulin
THRA thyroid hormone receptor, alpha
THRB thyroid hormone receptor, beta
TPO thyroid peroxidase
TRAF3IP2 TRAF3 interacting protein 2
TRHR thyrotropin-releasing hormone receptor
TRMU tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase
TSHB thyroid stimulating hormone, beta
TSHR thyroid stimulating hormone receptor
UBE3A ubiquitin protein ligase E3A
VPS33A vacuolar protein sorting 33 homolog A (S. cerevisiae)
WNT5A wingless-type MMTV integration site family, member 5A
ZBTB24 zinc finger and BTB domain containing 24