abnormality of the chin Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the chin, i.e., of the inferior portion of the face lying inferior to the lower lip and including the central prominence of the lower jaw. (Human Phenotype Ontology, HP_0000306)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000306
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
ACAN aggrecan
ACTB actin, beta
ACTG1 actin gamma 1
AGA aspartylglucosaminidase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIP aryl hydrocarbon receptor interacting protein
ANKH ANKH inorganic pyrophosphate transport regulator
ANKRD11 ankyrin repeat domain 11
ANTXR1 anthrax toxin receptor 1
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
AP4M1 adaptor-related protein complex 4, mu 1 subunit
ATP10A ATPase, class V, type 10A
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCR breakpoint cluster region
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
CA2 carbonic anhydrase II
CAMTA1 calmodulin binding transcription activator 1
CAV1 caveolin 1, caveolae protein, 22kDa
CCDC8 coiled-coil domain containing 8
CDKL5 cyclin-dependent kinase-like 5
CHD7 chromodomain helicase DNA binding protein 7
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP2 CAP-GLY domain containing linker protein 2
COX7B cytochrome c oxidase subunit VIIb
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CUL7 cullin 7
CYFIP1 cytoplasmic FMR1 interacting protein 1
DEAF1 DEAF1 transcription factor
DNM1L dynamin 1-like
DST dystonin
DYM dymeclin
EDA ectodysplasin A
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ERF Ets2 repressor factor
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM20C family with sequence similarity 20, member C
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXG1 forkhead box G1
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GALNS galactosamine (N-acetyl)-6-sulfatase
GJA1 gap junction protein, alpha 1, 43kDa
GLB1 galactosidase, beta 1
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GORAB golgin, RAB6-interacting
GPC3 glypican 3
GPC4 glypican 4
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HDAC8 histone deacetylase 8
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HNF1B HNF1 homeobox B
HRAS Harvey rat sarcoma viral oncogene homolog
IDUA iduronidase, alpha-L-
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
INSR insulin receptor
ITCH itchy E3 ubiquitin protein ligase
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCTD1 potassium channel tetramerization domain containing 1
KDM5C lysine (K)-specific demethylase 5C
KIF11 kinesin family member 11
KIF1BP KIF1 binding protein
KPTN kaptin (actin binding protein)
LIMK1 LIM domain kinase 1
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
MAN1B1 mannosidase, alpha, class 1B, member 1
MAN2B1 mannosidase, alpha, class 2B, member 1
MAPK1 mitogen-activated protein kinase 1
MBD5 methyl-CpG binding domain protein 5
MECP2 methyl CpG binding protein 2
MEF2C myocyte enhancer factor 2C
MEIS2 Meis homeobox 2
MUSK muscle, skeletal, receptor tyrosine kinase
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH8 myosin, heavy chain 8, skeletal muscle, perinatal
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OBSL1 obscurin-like 1
OCA2 oculocutaneous albinism II
OCRL oculocerebrorenal syndrome of Lowe
OPHN1 oligophrenin 1
PAX3 paired box 3
PDE4D phosphodiesterase 4D, cAMP-specific
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
POC1A POC1 centriolar protein A
PORCN porcupine homolog (Drosophila)
PQBP1 polyglutamine binding protein 1
PRDM16 PR domain containing 16
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTCH2 patched 2
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTF1A pancreas specific transcription factor, 1a
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PYCR1 pyrroline-5-carboxylate reductase 1
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SH3PXD2B SH3 and PX domains 2B
SHANK3 SH3 and multiple ankyrin repeat domains 3
SKI SKI proto-oncogene
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SMAD4 SMAD family member 4
SMS spermine synthase
SNRPN small nuclear ribonucleoprotein polypeptide N
SNX3 sorting nexin 3
SOST sclerostin
SUFU suppressor of fused homolog (Drosophila)
TAZ tafazzin
TBC1D7 TBC1 domain family, member 7
TBL2 transducin (beta)-like 2
TBX22 T-box 22
TGFB1 transforming growth factor, beta 1
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
TRPS1 trichorhinophalangeal syndrome I
TUBGCP6 tubulin, gamma complex associated protein 6
TWIST1 twist family bHLH transcription factor 1
TWIST2 twist family bHLH transcription factor 2
UBE3A ubiquitin protein ligase E3A
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
ZBTB24 zinc finger and BTB domain containing 24
ZEB2 zinc finger E-box binding homeobox 2