abnormality of facial soft tissue Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011799
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Genes

176 genes associated with the abnormality of facial soft tissue phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ABCD3 ATP-binding cassette, sub-family D (ALD), member 3
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACTA1 actin, alpha 1, skeletal muscle
ACTB actin, beta
ACTG1 actin gamma 1
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ADCY5 adenylate cyclase 5
AGRN agrin
AIP aryl hydrocarbon receptor interacting protein
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALS2 amyotrophic lateral sclerosis 2 (juvenile)
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANO5 anoctamin 5
ANTXR1 anthrax toxin receptor 1
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
ASXL1 additional sex combs like transcriptional regulator 1
ATP1A3 ATPase, Na+/K+ transporting, alpha 3 polypeptide
BAG3 BCL2-associated athanogene 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BIN1 bridging integrator 1
BMS1 BMS1 ribosome biogenesis factor
C12ORF65 chromosome 12 open reading frame 65
CAMTA1 calmodulin binding transcription activator 1
CAPN3 calpain 3, (p94)
CC2D1A coiled-coil and C2 domain containing 1A
CCBE1 collagen and calcium binding EGF domains 1
CECR1 cat eye syndrome chromosome region, candidate 1
CHD7 chromodomain helicase DNA binding protein 7
CHKB choline kinase beta
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CLCF1 cardiotrophin-like cytokine factor 1
CLCN7 chloride channel, voltage-sensitive 7
CLIP2 CAP-GLY domain containing linker protein 2
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
CRLF1 cytokine receptor-like factor 1
CTLA4 cytotoxic T-lymphocyte-associated protein 4
DCTN1 dynactin 1
DES desmin
DHCR7 7-dehydrocholesterol reductase
DMPK dystrophia myotonica-protein kinase
DNA2 DNA replication helicase/nuclease 2
DNM2 dynamin 2
DOK7 docking protein 7
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DUX4 double homeobox 4
ELN elastin
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FKRP fukutin related protein
FOXG1 forkhead box G1
FRG1 FSHD region gene 1
GAN gigaxonin
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GJA1 gap junction protein, alpha 1, 43kDa
GJC2 gap junction protein, gamma 2, 47kDa
GLI3 GLI family zinc finger 3
GMPPB GDP-mannose pyrophosphorylase B
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HOXB1 homeobox B1
HRAS Harvey rat sarcoma viral oncogene homolog
KCTD1 potassium channel tetramerization domain containing 1
KDM5C lysine (K)-specific demethylase 5C
KLLN killin, p53-regulated DNA replication inhibitor
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT17 keratin 17, type I
LARGE like-glycosyltransferase
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
MECP2 methyl CpG binding protein 2
MEGF10 multiple EGF-like-domains 10
MEN1 multiple endocrine neoplasia I
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGME1 mitochondrial genome maintenance exonuclease 1
MLH1 mutL homolog 1
MSH2 mutS homolog 2
MSH6 mutS homolog 6
MTM1 myotubularin 1
MTMR2 myotubularin related protein 2
MUSK muscle, skeletal, receptor tyrosine kinase
MYD88 myeloid differentiation primary response 88
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NEB nebulin
NEU1 sialidase 1 (lysosomal sialidase)
NF2 neurofibromin 2 (merlin)
NOD2 nucleotide-binding oligomerization domain containing 2
OFD1 oral-facial-digital syndrome 1
PABPN1 poly(A) binding protein, nuclear 1
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PLCD1 phospholipase C, delta 1
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PPP2R2B protein phosphatase 2, regulatory subunit B, beta
PRKCG protein kinase C, gamma
PRTN3 proteinase 3
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAPSN receptor-associated protein of the synapse
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RIN2 Ras and Rab interactor 2
RYR1 ryanodine receptor 1 (skeletal)
SALL4 spalt-like transcription factor 4
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
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEPN1 selenoprotein N, 1
SETBP1 SET binding protein 1
SH3TC2 SH3 domain and tetratricopeptide repeats 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIX1 SIX homeobox 1
SIX5 SIX homeobox 5
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SOST sclerostin
SOX18 SRY (sex determining region Y)-box 18
SPEG SPEG complex locus
SPTBN2 spectrin, beta, non-erythrocytic 2
STAC3 SH3 and cysteine rich domain 3
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SUMF1 sulfatase modifying factor 1
TAZ tafazzin
TBL2 transducin (beta)-like 2
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFB1 transforming growth factor, beta 1
TK2 thymidine kinase 2, mitochondrial
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
TTN titin
TUBB3 tubulin, beta 3 class III
UBA1 ubiquitin-like modifier activating enzyme 1
VCP valosin containing protein
VPS13B vacuolar protein sorting 13 homolog B (yeast)
ZC4H2 zinc finger, C4H2 domain containing
ZMPSTE24 zinc metallopeptidase STE24