Familial Aplasia Of The Vermis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0431399
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Genes

90 genes associated with the disease Familial Aplasia Of The Vermis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADGRG1 adhesion G protein-coupled receptor G1
AHI1 Abelson helper integration site 1
ALX4 ALX homeobox 4
ANPEP alanyl (membrane) aminopeptidase
ARL13A ADP-ribosylation factor-like 13A
ARL13B ADP-ribosylation factor-like 13B
ARL3 ADP-ribosylation factor-like 3
ARMC9 armadillo repeat containing 9
ATF4 activating transcription factor 4
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BARHL1 BarH-like homeobox 1
C2CD3 C2 calcium-dependent domain containing 3
C5ORF42 chromosome 5 open reading frame 42
CC2D2A coiled-coil and C2 domain containing 2A
CCND1 cyclin D1
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2
CEND1 cell cycle exit and neuronal differentiation 1
CEP104 centrosomal protein 104kDa
CEP120 centrosomal protein 120kDa
CEP290 centrosomal protein 290kDa
CEP41 centrosomal protein 41kDa
CHD7 chromodomain helicase DNA binding protein 7
CSF2 colony stimulating factor 2 (granulocyte-macrophage)
CSPP1 centrosome and spindle pole associated protein 1
DMXL2 Dmx-like 2
DVL1 dishevelled segment polarity protein 1
FAM149B1 family with sequence similarity 149, member B1
FGF8 fibroblast growth factor 8 (androgen-induced)
GYS2 glycogen synthase 2 (liver)
HAP1 huntingtin-associated protein 1
HYLS1 hydrolethalus syndrome 1
IFT172 intraflagellar transport 172
IFT38 intraflagellar transport 38
INPP5B inositol polyphosphate-5-phosphatase, 75kDa
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INVS inversin
ITFG1 integrin alpha FG-GAP repeat containing 1
ITPR1 inositol 1,4,5-trisphosphate receptor, type 1
KAT5 K(lysine) acetyltransferase 5
KIAA0556 KIAA0556
KIAA0586 KIAA0586
KIAA0753 KIAA0753
KIF7 kinesin family member 7
LAMC2 laminin, gamma 2
LCA5 Leber congenital amaurosis 5
LPO lactoperoxidase
LRRCC1 leucine rich repeat and coiled-coil centrosomal protein 1
MEF2C myocyte enhancer factor 2C
METTL8 methyltransferase like 8
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MVK mevalonate kinase
NPHP1 nephronophthisis 1 (juvenile)
NPHP4 nephronophthisis 4
NXPH1 neurexophilin 1
OFD1 oral-facial-digital syndrome 1
PDE6D phosphodiesterase 6D, cGMP-specific, rod, delta
PIBF1 progesterone immunomodulatory binding factor 1
POC1B POC1 centriolar protein B
PPP1R21 protein phosphatase 1, regulatory subunit 21
RAC2 ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)
RASA1 RAS p21 protein activator (GTPase activating protein) 1
RASGRF1 Ras protein-specific guanine nucleotide-releasing factor 1
RCOR1 REST corepressor 1
RGS6 regulator of G-protein signaling 6
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SMO smoothened, frizzled class receptor
SOS1 son of sevenless homolog 1 (Drosophila)
SUFU suppressor of fused homolog (Drosophila)
SYNJ1 synaptojanin 1
SYNJ2 synaptojanin 2
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TCTN3 tectonic family member 3
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TIMM8A translocase of inner mitochondrial membrane 8 homolog A (yeast)
TIPRL TOR signaling pathway regulator
TMEM107 transmembrane protein 107
TMEM138 transmembrane protein 138
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM237 transmembrane protein 237
TMEM67 transmembrane protein 67
TULP3 tubby like protein 3
WNT1 wingless-type MMTV integration site family, member 1
ZBTB35 zinc finger and BTB domain containing 35
ZIC1 Zic family member 1
ZNF423 zinc finger protein 423