abnormality of the autonomic nervous system Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the autonomic nervous system. (Human Phenotype Ontology, HP_0002270)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0002270
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Genes

129 genes associated with the abnormality of the autonomic nervous system phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ACTG2 actin, gamma 2, smooth muscle, enteric
AHI1 Abelson helper integration site 1
ARL13B ADP-ribosylation factor-like 13B
ARL6 ADP-ribosylation factor-like 6
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASCL1 achaete-scute family bHLH transcription factor 1
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATRX alpha thalassemia/mental retardation syndrome X-linked
ATXN3 ataxin 3
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B9D1 B9 protein domain 1
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BDNF brain-derived neurotrophic factor
BRAT1 BRCA1-associated ATM activator 1
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
C5ORF42 chromosome 5 open reading frame 42
CAV1 caveolin 1, caveolae protein, 22kDa
CC2D2A coiled-coil and C2 domain containing 2A
CCT5 chaperonin containing TCP1, subunit 5 (epsilon)
CDKL5 cyclin-dependent kinase-like 5
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CISD2 CDGSH iron sulfur domain 2
COMT catechol-O-methyltransferase
CREBBP CREB binding protein
CSPP1 centrosome and spindle pole associated protein 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DHCR7 7-dehydrocholesterol reductase
ECE1 endothelin converting enzyme 1
EDN3 endothelin 3
EDNRB endothelin receptor type B
ERCC4 excision repair cross-complementation group 4
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
FMR1 fragile X mental retardation 1
FOXF1 forkhead box F1
FOXG1 forkhead box G1
GATA1 GATA binding protein 1 (globin transcription factor 1)
GDNF glial cell derived neurotrophic factor
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GLA galactosidase, alpha
GLI3 GLI family zinc finger 3
GMPPA GDP-mannose pyrophosphorylase A
GP1BB glycoprotein Ib (platelet), beta polypeptide
HEXB hexosaminidase B (beta polypeptide)
HIRA histone cell cycle regulator
IFT27 intraflagellar transport 27
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
KIF1BP KIF1 binding protein
KIF7 kinesin family member 7
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
L1CAM L1 cell adhesion molecule
LIFR leukemia inhibitory factor receptor alpha
LMNB1 lamin B1
LZTFL1 leucine zipper transcription factor-like 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MECP2 methyl CpG binding protein 2
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NME1 NME/NM23 nucleoside diphosphate kinase 1
NPHP1 nephronophthisis 1 (juvenile)
NRTN neurturin
NTNG1 netrin G1
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OFD1 oral-facial-digital syndrome 1
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PHOX2B paired-like homeobox 2b
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PRNP prion protein
RAD51C RAD51 paralog C
RET ret proto-oncogene
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPGRIP1L RPGRIP1-like
SALL4 spalt-like transcription factor 4
SCN11A sodium channel, voltage gated, type XI alpha subunit
SF3B4 splicing factor 3b, subunit 4, 49kDa
SLC52A2 solute carrier family 52 (riboflavin transporter), member 2
SLC52A3 solute carrier family 52 (riboflavin transporter), member 3
SLC6A2 solute carrier family 6 (neurotransmitter transporter), member 2
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLX4 SLX4 structure-specific endonuclease subunit
SNAI2 snail family zinc finger 2
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOX10 SRY (sex determining region Y)-box 10
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
TRIM32 tripartite motif containing 32
TSPYL1 TSPY-like 1
TTC8 tetratricopeptide repeat domain 8
TTR transthyretin
UFD1L ubiquitin fusion degradation 1 like (yeast)
WDPCP WD repeat containing planar cell polarity effector
WDR45 WD repeat domain 45
WFS1 Wolfram syndrome 1 (wolframin)
ZEB2 zinc finger E-box binding homeobox 2
ZNF423 zinc finger protein 423