thin upper lip vermilion Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Height of the vermilion of the upper lip in the midline more than 2 SD below the mean. Alternatively, an apparently reduced height of the vermilion of the upper lip in the frontal view (subjective). (Human Phenotype Ontology, HP_0000219)
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51 genes associated with the thin upper lip vermilion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ADNP activity-dependent neuroprotector homeobox
ADSL adenylosuccinate lyase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AP3B1 adaptor-related protein complex 3, beta 1 subunit
ARID1B AT rich interactive domain 1B (SWI1-like)
ARX aristaless related homeobox
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALTL beta 1,3-galactosyltransferase-like
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CLP1 cleavage and polyadenylation factor I subunit 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
FBN1 fibrillin 1
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
IGF1R insulin-like growth factor 1 receptor
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM5C lysine (K)-specific demethylase 5C
KIF11 kinesin family member 11
KMT2A lysine (K)-specific methyltransferase 2A
LMBRD1 LMBR1 domain containing 1
MAN1B1 mannosidase, alpha, class 1B, member 1
MBD5 methyl-CpG binding domain protein 5
MED12 mediator complex subunit 12
MID1 midline 1
MPC1 mitochondrial pyruvate carrier 1
NALCN sodium leak channel, non selective
NDN necdin, melanoma antigen (MAGE) family member
NIPBL Nipped-B homolog (Drosophila)
NOG noggin
OFD1 oral-facial-digital syndrome 1
OPHN1 oligophrenin 1
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PGAP3 post-GPI attachment to proteins 3
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PITX2 paired-like homeodomain 2
PMM2 phosphomannomutase 2
PQBP1 polyglutamine binding protein 1
PUF60 poly-U binding splicing factor 60KDa
RAD21 RAD21 homolog (S. pombe)
RNF135 ring finger protein 135
ROR2 receptor tyrosine kinase-like orphan receptor 2
SEC23A Sec23 homolog A (S. cerevisiae)
SETD5 SET domain containing 5
SMAD4 SMAD family member 4
SNRPN small nuclear ribonucleoprotein polypeptide N
TRPS1 trichorhinophalangeal syndrome I
WDR19 WD repeat domain 19
WNT5A wingless-type MMTV integration site family, member 5A
ZBTB18 zinc finger and BTB domain containing 18