abnormal autonomic nervous system morphology Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A structural abnormality of the autonomic nervous system. (Human Phenotype Ontology, HP_0012331)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0012331
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Genes

97 genes associated with the abnormal autonomic nervous system morphology phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
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
ATRX alpha thalassemia/mental retardation syndrome X-linked
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
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
COMT catechol-O-methyltransferase
CREBBP CREB binding protein
CSPP1 centrosome and spindle pole associated protein 1
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
FOXF1 forkhead box F1
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
GLI3 GLI family zinc finger 3
GP1BB glycoprotein Ib (platelet), beta polypeptide
HIRA histone cell cycle regulator
IFT27 intraflagellar transport 27
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
LZTFL1 leucine zipper transcription factor-like 1
MBTPS2 membrane-bound transcription factor peptidase, site 2
MITF microphthalmia-associated transcription factor
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NPHP1 nephronophthisis 1 (juvenile)
NRTN neurturin
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
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
SF3B4 splicing factor 3b, subunit 4, 49kDa
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLX4 SLX4 structure-specific endonuclease subunit
SNAI2 snail family zinc finger 2
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
TTC8 tetratricopeptide repeat domain 8
UFD1L ubiquitin fusion degradation 1 like (yeast)
WDPCP WD repeat containing planar cell polarity effector
ZEB2 zinc finger E-box binding homeobox 2
ZNF423 zinc finger protein 423