spina bifida occulta Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. (Human Phenotype Ontology, HP_0003298)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0003298
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Genes

44 genes associated with the spina bifida occulta phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AMER1 APC membrane recruitment protein 1
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
B3GALTL beta 1,3-galactosyltransferase-like
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BRAF B-Raf proto-oncogene, serine/threonine kinase
CCBE1 collagen and calcium binding EGF domains 1
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP2 CAP-GLY domain containing linker protein 2
CREBBP CREB binding protein
CUL7 cullin 7
DLL3 delta-like 3 (Drosophila)
ELN elastin
FLNB filamin B, beta
FUZ fuzzy planar cell polarity protein
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HES7 hes family bHLH transcription factor 7
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IRF6 interferon regulatory factor 6
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PORCN porcupine homolog (Drosophila)
PTCH1 patched 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB23 RAB23, member RAS oncogene family
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
SALL4 spalt-like transcription factor 4
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
SOX11 SRY (sex determining region Y)-box 11
TBL2 transducin (beta)-like 2
TBX6 T-box 6
TNXB tenascin XB
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2