Heterotaxy Syndrom Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1853444
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Genes

39 genes associated with the disease Heterotaxy Syndrom in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACVR2B activin A receptor, type IIB
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
AP1B1 adaptor-related protein complex 1, beta 1 subunit
ARMC4 armadillo repeat containing 4
BICC1 BicC family RNA binding protein 1
C1ORF127 chromosome 1 open reading frame 127
CC2D2A coiled-coil and C2 domain containing 2A
CCDC39 coiled-coil domain containing 39
CEP290 centrosomal protein 290kDa
CERS1 ceramide synthase 1
CFAP53 cilia and flagella associated protein 53
CFC1 cripto, FRL-1, cryptic family 1
CFC1B cripto, FRL-1, cryptic family 1B
CRELD1 cysteine-rich with EGF-like domains 1
DEMA1 DPM1 ER membrane anchor 1
DNAAF3 dynein, axonemal, assembly factor 3
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNAI1 dynein, axonemal, intermediate chain 1
DRC1 dynein regulatory complex subunit 1
EVC2 Ellis van Creveld syndrome 2
FOXH1 forkhead box H1
GDF1 growth differentiation factor 1
IFT74 intraflagellar transport 74
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1
LEFTY2 left-right determination factor 2
MEGF8 multiple EGF-like-domains 8
MMP21 matrix metallopeptidase 21
NODAL nodal growth differentiation factor
PCSK5 proprotein convertase subtilisin/kexin type 5
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RSG1 REM2 and RAB-like small GTPase 1
SHROOM3 shroom family member 3
SLIT2 slit homolog 2 (Drosophila)
TBC1D32 TBC1 domain family, member 32
TDGF1 teratocarcinoma-derived growth factor 1
TMEM67 transmembrane protein 67
WDR62 WD repeat domain 62
ZIC3 Zic family member 3