abnormality of the seventh cranial nerve Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the seventh cranial nerve sometimes also referred to as the facial nerve. (Human Phenotype Ontology, HP_0010827)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010827
Similar Terms
Downloads & Tools

Genes

101 genes associated with the abnormality of the seventh cranial nerve 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
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACTA1 actin, alpha 1, skeletal muscle
AGRN agrin
AMER1 APC membrane recruitment protein 1
ANKH ANKH inorganic pyrophosphate transport regulator
ANO5 anoctamin 5
ASAH1 N-acylsphingosine amidohydrolase (acid ceramidase) 1
BAG3 BCL2-associated athanogene 3
BIN1 bridging integrator 1
BMS1 BMS1 ribosome biogenesis factor
C12ORF65 chromosome 12 open reading frame 65
CAPN3 calpain 3, (p94)
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
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
CRLF1 cytokine receptor-like factor 1
DCTN1 dynactin 1
DES desmin
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
EYA1 EYA transcriptional coactivator and phosphatase 1
FKRP fukutin related protein
GAN gigaxonin
GFPT1 glutamine--fructose-6-phosphate transaminase 1
GJA1 gap junction protein, alpha 1, 43kDa
GJC2 gap junction protein, gamma 2, 47kDa
GMPPB GDP-mannose pyrophosphorylase B
HOXB1 homeobox B1
LARGE like-glycosyltransferase
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
MEGF10 multiple EGF-like-domains 10
MGME1 mitochondrial genome maintenance exonuclease 1
MTM1 myotubularin 1
MTMR2 myotubularin related protein 2
MUSK muscle, skeletal, receptor tyrosine kinase
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NEB nebulin
NF2 neurofibromin 2 (merlin)
NOD2 nucleotide-binding oligomerization domain containing 2
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
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PTDSS1 phosphatidylserine synthase 1
RAPSN receptor-associated protein of the synapse
RYR1 ryanodine receptor 1 (skeletal)
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEPN1 selenoprotein N, 1
SH3TC2 SH3 domain and tetratricopeptide repeats 2
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
SPEG SPEG complex locus
STAC3 SH3 and cysteine rich domain 3
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
TAZ tafazzin
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TGFB1 transforming growth factor, beta 1
TK2 thymidine kinase 2, mitochondrial
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRIM32 tripartite motif containing 32
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTN titin
TUBB3 tubulin, beta 3 class III
UBA1 ubiquitin-like modifier activating enzyme 1
VCP valosin containing protein
ZC4H2 zinc finger, C4H2 domain containing