sacrococcygeal pilonidal abnormality Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description The presence of a cyst, fistula, or abscess in the sacrococcygeal region (gluteal crease) characteristically accompanied by hair and skin folds. (Human Phenotype Ontology, HP_0010767)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010767
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Genes

53 genes associated with the sacrococcygeal pilonidal abnormality 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
EYA1 EYA transcriptional coactivator and phosphatase 1
FAT4 FAT atypical cadherin 4
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HCCS holocytochrome c synthase
HIC1 hypermethylated in cancer 1
HOXA13 homeobox A13
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNK9 potassium channel, two pore domain subfamily K, member 9
KMT2A lysine (K)-specific methyltransferase 2A
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
NELFA negative elongation factor complex member A
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PAFAH1B1 platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)
PTCH1 patched 1
RAB23 RAB23, member RAS oncogene family
RFC2 replication factor C (activator 1) 2, 40kDa
RMRP RNA component of mitochondrial RNA processing endoribonuclease
ROR2 receptor tyrosine kinase-like orphan receptor 2
SHANK3 SH3 and multiple ankyrin repeat domains 3
SIX1 SIX homeobox 1
SOX9 SRY (sex determining region Y)-box 9
TBL2 transducin (beta)-like 2
TBX2 T-box 2
TBX4 T-box 4
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TMCO1 transmembrane and coiled-coil domains 1
TWIST2 twist family bHLH transcription factor 2
UBA1 ubiquitin-like modifier activating enzyme 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