abnormality of upper lip vermillion Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the vermilion border, the sharp demarcation between the lip (red colored) and the adjacent normal skin. (Human Phenotype Ontology, HP_0011339)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011339
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Genes

74 genes associated with the abnormality of upper lip vermillion phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
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
COL11A1 collagen, type XI, alpha 1
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DIS3L2 DIS3 like 3'-5' exoribonuclease 2
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EHMT1 euchromatic histone-lysine N-methyltransferase 1
FAM111A family with sequence similarity 111, member A
FAM20C family with sequence similarity 20, member C
FBN1 fibrillin 1
FLII flightless I homolog (Drosophila)
FOXG1 forkhead box G1
GBA glucosidase, beta, acid
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
IGF1R insulin-like growth factor 1 receptor
IL1RAPL1 interleukin 1 receptor accessory protein-like 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM5C lysine (K)-specific demethylase 5C
KIAA2022 KIAA2022
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
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MID1 midline 1
MPC1 mitochondrial pyruvate carrier 1
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
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
PAX3 paired box 3
PGAP3 post-GPI attachment to proteins 3
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
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)
RAI1 retinoic acid induced 1
RNF135 ring finger protein 135
ROR2 receptor tyrosine kinase-like orphan receptor 2
SC5D sterol-C5-desaturase
SEC23A Sec23 homolog A (S. cerevisiae)
SETD5 SET domain containing 5
SHH sonic hedgehog
SMAD4 SMAD family member 4
SNRPN small nuclear ribonucleoprotein polypeptide N
STRADA STE20-related kinase adaptor alpha
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
ZC4H2 zinc finger, C4H2 domain containing
ZSWIM6 zinc finger, SWIM-type containing 6