large face Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0100729
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Genes

109 genes associated with the large face phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
AGA aspartylglucosaminidase
AHI1 Abelson helper integration site 1
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANKRD11 ankyrin repeat domain 11
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
ARL13B ADP-ribosylation factor-like 13B
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ASXL1 additional sex combs like transcriptional regulator 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
B9D1 B9 protein domain 1
BCOR BCL6 corepressor
BCR breakpoint cluster region
BIN1 bridging integrator 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRWD3 bromodomain and WD repeat domain containing 3
C12ORF57 chromosome 12 open reading frame 57
C5ORF42 chromosome 5 open reading frame 42
CAMTA1 calmodulin binding transcription activator 1
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CEP57 centrosomal protein 57kDa
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLCF1 cardiotrophin-like cytokine factor 1
COMT catechol-O-methyltransferase
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CRLF1 cytokine receptor-like factor 1
CSPP1 centrosome and spindle pole associated protein 1
CTDP1 CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FBN1 fibrillin 1
FGF3 fibroblast growth factor 3
FLII flightless I homolog (Drosophila)
FLNA filamin A, alpha
FLNB filamin B, beta
FMR1 fragile X mental retardation 1
GP1BB glycoprotein Ib (platelet), beta polypeptide
HDAC4 histone deacetylase 4
HIRA histone cell cycle regulator
HRAS Harvey rat sarcoma viral oncogene homolog
IDUA iduronidase, alpha-L-
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KANSL1 KAT8 regulatory NSL complex subunit 1
KIF7 kinesin family member 7
KRAS Kirsten rat sarcoma viral oncogene homolog
MAN1B1 mannosidase, alpha, class 1B, member 1
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MAPK1 mitogen-activated protein kinase 1
MED12 mediator complex subunit 12
MEIS2 Meis homeobox 2
MGP matrix Gla protein
MID2 midline 2
MKS1 Meckel syndrome, type 1
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria
MOCS1 molybdenum cofactor synthesis 1
MOCS2 molybdenum cofactor synthesis 2
MTM1 myotubularin 1
MUSK muscle, skeletal, receptor tyrosine kinase
NBAS neuroblastoma amplified sequence
NF1 neurofibromin 1
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NPHP1 nephronophthisis 1 (juvenile)
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PEX13 peroxisomal biogenesis factor 13
PHF8 PHD finger protein 8
POC1A POC1 centriolar protein A
PQBP1 polyglutamine binding protein 1
PTCH1 patched 1
PTEN phosphatase and tensin homolog
RAB39B RAB39B, member RAS oncogene family
RAI1 retinoic acid induced 1
RAPSN receptor-associated protein of the synapse
RECQL4 RecQ protein-like 4
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPGRIP1L RPGRIP1-like
SATB2 SATB homeobox 2
SEPN1 selenoprotein N, 1
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SNAP29 synaptosomal-associated protein, 29kDa
STRADA STE20-related kinase adaptor alpha
TBX1 T-box 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TPM3 tropomyosin 3
UBE2A ubiquitin-conjugating enzyme E2A
UBE3B ubiquitin protein ligase E3B
UFD1L ubiquitin fusion degradation 1 like (yeast)
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
WNT7A wingless-type MMTV integration site family, member 7A
ZNF423 zinc finger protein 423