short philtrum Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border. (Human Phenotype Ontology, HP_0000322)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000322
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Genes

64 genes associated with the short philtrum phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AP1S2 adaptor-related protein complex 1, sigma 2 subunit
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
ARID1A AT rich interactive domain 1A (SWI-like)
ARID1B AT rich interactive domain 1B (SWI1-like)
CCBE1 collagen and calcium binding EGF domains 1
DOCK7 dedicator of cytokinesis 7
ERCC1 excision repair cross-complementation group 1
FAM111A family with sequence similarity 111, member A
FAT4 FAT atypical cadherin 4
FIG4 FIG4 phosphoinositide 5-phosphatase
FLII flightless I homolog (Drosophila)
FREM1 FRAS1 related extracellular matrix 1
GLI2 GLI family zinc finger 2
HDAC6 histone deacetylase 6
KCNK9 potassium channel, two pore domain subfamily K, member 9
KIAA2022 KIAA2022
KIF1BP KIF1 binding protein
KIF7 kinesin family member 7
LARP7 La ribonucleoprotein domain family, member 7
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LRP4 low density lipoprotein receptor-related protein 4
MAN1B1 mannosidase, alpha, class 1B, member 1
MED12 mediator complex subunit 12
MEF2C myocyte enhancer factor 2C
MEIS2 Meis homeobox 2
NELFA negative elongation factor complex member A
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NOG noggin
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
OPHN1 oligophrenin 1
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PITX2 paired-like homeodomain 2
PQBP1 polyglutamine binding protein 1
RAB18 RAB18, member RAS oncogene family
RAB3GAP1 RAB3 GTPase activating protein subunit 1 (catalytic)
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAI1 retinoic acid induced 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RUNX2 runt-related transcription factor 2
SH3PXD2B SH3 and PX domains 2B
SHH sonic hedgehog
SMAD4 SMAD family member 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
SMS spermine synthase
SOX11 SRY (sex determining region Y)-box 11
SRCAP Snf2-related CREBBP activator protein
TBC1D20 TBC1 domain family, member 20
TBX1 T-box 1
TCF4 transcription factor 4
TCTN3 tectonic family member 3
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TMEM237 transmembrane protein 237
TMEM70 transmembrane protein 70
TRAPPC9 trafficking protein particle complex 9
TWIST2 twist family bHLH transcription factor 2
UBE3B ubiquitin protein ligase E3B
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WHSC1 Wolf-Hirschhorn syndrome candidate 1
WNT5A wingless-type MMTV integration site family, member 5A
ZDHHC9 zinc finger, DHHC-type containing 9