abnormality of the cranial nerves Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001291
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Genes

172 genes associated with the abnormality of the cranial nerves 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
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
C12ORF65 chromosome 12 open reading frame 65
C4A complement component 4A (Rodgers blood group)
CA2 carbonic anhydrase II
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
COCH cochlin
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
CTNS cystinosin, lysosomal cystine transporter
DCTN1 dynactin 1
DES desmin
DMPK dystrophia myotonica-protein kinase
DNA2 DNA replication helicase/nuclease 2
DNASE1L3 deoxyribonuclease I-like 3
DNM2 dynamin 2
DOK7 docking protein 7
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
EGR2 early growth response 2
ERCC4 excision repair cross-complementation group 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EXT1 exostosin glycosyltransferase 1
EXT2 exostosin glycosyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FGF3 fibroblast growth factor 3
FKRP fukutin related protein
GAN gigaxonin
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
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
GNAQ guanine nucleotide binding protein (G protein), q polypeptide
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HMBS hydroxymethylbilane synthase
HOXB1 homeobox B1
HRAS Harvey rat sarcoma viral oncogene homolog
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IL10 interleukin 10
IL12RB2 interleukin 12 receptor, beta 2
IL23R interleukin 23 receptor
KARS lysyl-tRNA synthetase
LARGE like-glycosyltransferase
LMNA lamin A/C
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LYST lysosomal trafficking regulator
MEFV Mediterranean fever
MEGF10 multiple EGF-like-domains 10
MEOX1 mesenchyme homeobox 1
MGME1 mitochondrial genome maintenance exonuclease 1
MPZ myelin protein zero
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
NF2 neurofibromin 2 (merlin)
NLRP3 NLR family, pyrin domain containing 3
NOD2 nucleotide-binding oligomerization domain containing 2
NOTCH3 notch 3
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSDHL NAD(P) dependent steroid dehydrogenase-like
OTX2 orthodenticle homeobox 2
PABPN1 poly(A) binding protein, nuclear 1
PALB2 partner and localizer of BRCA2
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
PMP22 peripheral myelin protein 22
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PRRX1 paired related homeobox 1
PRTN3 proteinase 3
PTDSS1 phosphatidylserine synthase 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN22 protein tyrosine phosphatase, non-receptor type 22 (lymphoid)
RAD51C RAD51 paralog C
RAPSN receptor-associated protein of the synapse
RYR1 ryanodine receptor 1 (skeletal)
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SDHAF2 succinate dehydrogenase complex assembly factor 2
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
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
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
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
SLX4 SLX4 structure-specific endonuclease subunit
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SNX10 sorting nexin 10
SOST sclerostin
SPEG SPEG complex locus
SQSTM1 sequestosome 1
STAC3 SH3 and cysteine rich domain 3
STAT4 signal transducer and activator of transcription 4
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
TLR4 toll-like receptor 4
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
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
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