Meckel Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An autosomal recessive disease that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia caused by dysfunction of primary cilia (ciliopathy) during early embryogenesis. (Human Disease Ontology, DOID_0050778)
External Link https://www.disgenet.org/browser/0/1/0/C1846357
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Genes

50 genes associated with the disease Meckel Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AFP alpha-fetoprotein
ALDH1A3 aldehyde dehydrogenase 1 family, member A3
ARL13A ADP-ribosylation factor-like 13A
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BBS4 Bardet-Biedl syndrome 4
CC2D2A coiled-coil and C2 domain containing 2A
CCL2 chemokine (C-C motif) ligand 2
CCL4 chemokine (C-C motif) ligand 4
CCL4L1 chemokine (C-C motif) ligand 4-like 1
CCL4L2 chemokine (C-C motif) ligand 4-like 2
CCL5 chemokine (C-C motif) ligand 5
CEP120 centrosomal protein 120kDa
CEP290 centrosomal protein 290kDa
CSPP1 centrosome and spindle pole associated protein 1
DVL1 dishevelled segment polarity protein 1
FLNA filamin A, alpha
HDAC1 histone deacetylase 1
HYLS1 hydrolethalus syndrome 1
IFT140 intraflagellar transport 140
IGF1 insulin-like growth factor 1 (somatomedin C)
IL1RN interleukin 1 receptor antagonist
IL6 interleukin 6
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
INVS inversin
KIF14 kinesin family member 14
LPO lactoperoxidase
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MTOR mechanistic target of rapamycin (serine/threonine kinase)
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NPHP1 nephronophthisis 1 (juvenile)
NPHP3 nephronophthisis 3 (adolescent)
PGD phosphogluconate dehydrogenase
PTGDS prostaglandin D2 synthase 21kDa (brain)
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
RPGRIP1L RPGRIP1-like
SEPT4 septin 4
TBX1 T-box 1
TCTN1 tectonic family member 1
TCTN2 tectonic family member 2
TGM2 transglutaminase 2
TMEM107 transmembrane protein 107
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TRIM37 tripartite motif containing 37
TXNDC15 thioredoxin domain containing 15
VEGFA vascular endothelial growth factor A
WDPCP WD repeat containing planar cell polarity effector