spinal dysraphism Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_1089)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010301
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Genes

107 genes associated with the spinal dysraphism 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)
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GALTL beta 1,3-galactosyltransferase-like
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BMPER BMP binding endothelial regulator
BMS1 BMS1 ribosome biogenesis factor
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
CCBE1 collagen and calcium binding EGF domains 1
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CLIP2 CAP-GLY domain containing linker protein 2
COMT catechol-O-methyltransferase
CREBBP CREB binding protein
CUL7 cullin 7
DACT1 dishevelled-binding antagonist of beta-catenin 1
DLL3 delta-like 3 (Drosophila)
ELN elastin
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
FKRP fukutin related protein
FKTN fukutin
FLNA filamin A, alpha
FLNB filamin B, beta
FRAS1 Fraser extracellular matrix complex subunit 1
FREM2 FRAS1 related extracellular matrix protein 2
FUZ fuzzy planar cell polarity protein
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GMPPB GDP-mannose pyrophosphorylase B
GP1BB glycoprotein Ib (platelet), beta polypeptide
GRIP1 glutamate receptor interacting protein 1
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HES7 hes family bHLH transcription factor 7
HIRA histone cell cycle regulator
HOXD13 homeobox D13
IGF2 insulin-like growth factor 2
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
INPP5E inositol polyphosphate-5-phosphatase, 72 kDa
IRF6 interferon regulatory factor 6
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIF22 kinesin family member 22
LARGE like-glycosyltransferase
LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMX1B LIM homeobox transcription factor 1, beta
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)
MEOX1 mesenchyme homeobox 1
MESP2 mesoderm posterior basic helix-loop-helix transcription factor 2
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NF1 neurofibromin 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OFD1 oral-facial-digital syndrome 1
PALB2 partner and localizer of BRCA2
PAX3 paired box 3
PHGDH phosphoglycerate dehydrogenase
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PSAT1 phosphoserine aminotransferase 1
PTCH1 patched 1
PTCH2 patched 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB23 RAB23, member RAS oncogene family
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBM8A RNA binding motif protein 8A
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
SALL4 spalt-like transcription factor 4
SC5D sterol-C5-desaturase
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLX4 SLX4 structure-specific endonuclease subunit
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
SUFU suppressor of fused homolog (Drosophila)
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX6 T-box 6
TMEM216 transmembrane protein 216
TNXB tenascin XB
UFD1L ubiquitin fusion degradation 1 like (yeast)
VANGL1 VANGL planar cell polarity protein 1
VANGL2 VANGL planar cell polarity protein 2
WNT7A wingless-type MMTV integration site family, member 7A
ZSWIM6 zinc finger, SWIM-type containing 6