pointed chin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A marked tapering of the lower face to the chin. (Human Phenotype Ontology, HP_0000307)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000307
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Genes

40 genes associated with the pointed chin phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ACTG1 actin gamma 1
ANKRD11 ankyrin repeat domain 11
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCR breakpoint cluster region
CAMTA1 calmodulin binding transcription activator 1
CCDC8 coiled-coil domain containing 8
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP2 CAP-GLY domain containing linker protein 2
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CUL7 cullin 7
DNM1L dynamin 1-like
ELN elastin
FGF3 fibroblast growth factor 3
FLNA filamin A, alpha
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HRAS Harvey rat sarcoma viral oncogene homolog
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KIF11 kinesin family member 11
KIF1BP KIF1 binding protein
LIMK1 LIM domain kinase 1
MAN1B1 mannosidase, alpha, class 1B, member 1
MAPK1 mitogen-activated protein kinase 1
MEIS2 Meis homeobox 2
NSD1 nuclear receptor binding SET domain protein 1
OBSL1 obscurin-like 1
POC1A POC1 centriolar protein A
PORCN porcupine homolog (Drosophila)
PRDM16 PR domain containing 16
RFC2 replication factor C (activator 1) 2, 40kDa
SHANK3 SH3 and multiple ankyrin repeat domains 3
SKI SKI proto-oncogene
TBC1D7 TBC1 domain family, member 7
TBL2 transducin (beta)-like 2
TUBGCP6 tubulin, gamma complex associated protein 6
ZEB2 zinc finger E-box binding homeobox 2