abnormality of the sacrum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the sacral bone. (Human Phenotype Ontology, HP_0005107)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0005107
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Genes

84 genes associated with the abnormality of the sacrum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ANK1 ankyrin 1, erythrocytic
ASXL1 additional sex combs like transcriptional regulator 1
B3GALTL beta 1,3-galactosyltransferase-like
B9D2 B9 protein domain 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BLM Bloom syndrome, RecQ helicase-like
CD96 CD96 molecule
CHL1 cell adhesion molecule L1-like
CLIP2 CAP-GLY domain containing linker protein 2
CNTN4 contactin 4
COX7B cytochrome c oxidase subunit VIIb
CRBN cereblon
DCHS1 dachsous cadherin-related 1
DEAF1 DEAF1 transcription factor
ELN elastin
ERF Ets2 repressor factor
EYA1 EYA transcriptional coactivator and phosphatase 1
FANCB Fanconi anemia, complementation group B
FAT4 FAT atypical cadherin 4
FGF20 fibroblast growth factor 20
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
FUCA1 fucosidase, alpha-L- 1, tissue
FUZ fuzzy planar cell polarity protein
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GPC3 glypican 3
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HCCS holocytochrome c synthase
HIC1 hypermethylated in cancer 1
HOXA13 homeobox A13
HOXD13 homeobox D13
ITGA8 integrin, alpha 8
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNK9 potassium channel, two pore domain subfamily K, member 9
KIF22 kinesin family member 22
KMT2A lysine (K)-specific methyltransferase 2A
LBR lamin B receptor
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIFR leukemia inhibitory factor receptor alpha
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)
MED12 mediator complex subunit 12
MEOX1 mesenchyme homeobox 1
MNX1 motor neuron and pancreas homeobox 1
NELFA negative elongation factor complex member A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NOTCH3 notch 3
NSD1 nuclear receptor binding SET domain protein 1
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PDGFRB platelet-derived growth factor receptor, beta polypeptide
POC1A POC1 centriolar protein A
PTCH1 patched 1
RAB23 RAB23, member RAS oncogene family
RET ret proto-oncogene
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS19 ribosomal protein S19
RUNX2 runt-related transcription factor 2
SBDS Shwachman-Bodian-Diamond syndrome
SETBP1 SET binding protein 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIX1 SIX homeobox 1
SLC26A2 solute carrier family 26 (anion exchanger), member 2
SOX9 SRY (sex determining region Y)-box 9
TBL2 transducin (beta)-like 2
TBX2 T-box 2
TBX4 T-box 4
TBX6 T-box 6
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMCO1 transmembrane and coiled-coil domains 1
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TWIST2 twist family bHLH transcription factor 2
UBA1 ubiquitin-like modifier activating enzyme 1
VANGL1 VANGL planar cell polarity protein 1
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon