high palate Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). (Human Phenotype Ontology, HP_0000218)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000218
Similar Terms
Downloads & Tools

Genes

191 genes associated with the high palate phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
ACTA1 actin, alpha 1, skeletal muscle
AGRN agrin
ALG3 ALG3, alpha-1,3- mannosyltransferase
AMER1 APC membrane recruitment protein 1
ANOS1 anosmin 1
AP4B1 adaptor-related protein complex 4, beta 1 subunit
ARL6 ADP-ribosylation factor-like 6
ARX aristaless related homeobox
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BIN1 bridging integrator 1
BMP4 bone morphogenetic protein 4
BRAF B-Raf proto-oncogene, serine/threonine kinase
CBS cystathionine-beta-synthase
CD96 CD96 molecule
CEP290 centrosomal protein 290kDa
CFL2 cofilin 2 (muscle)
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLCF1 cardiotrophin-like cytokine factor 1
CLP1 cleavage and polyadenylation factor I subunit 1
CNTN1 contactin 1
COL6A1 collagen, type VI, alpha 1
COL6A2 collagen, type VI, alpha 2
COL6A3 collagen, type VI, alpha 3
CPT2 carnitine palmitoyltransferase 2
CREBBP CREB binding protein
CRLF1 cytokine receptor-like factor 1
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DCHS1 dachsous cadherin-related 1
DDHD2 DDHD domain containing 2
DDR2 discoidin domain receptor tyrosine kinase 2
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DLG3 discs, large homolog 3 (Drosophila)
DOK7 docking protein 7
DPM1 dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit
DPM2 dolichyl-phosphate mannosyltransferase polypeptide 2, regulatory subunit
DSE dermatan sulfate epimerase
DST dystonin
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EIF2AK3 eukaryotic translation initiation factor 2-alpha kinase 3
EIF4A3 eukaryotic translation initiation factor 4A3
EP300 E1A binding protein p300
ERLIN2 ER lipid raft associated 2
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM20C family with sequence similarity 20, member C
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FH fumarate hydratase
FLNA filamin A, alpha
FOXL2 forkhead box L2
G6PC3 glucose 6 phosphatase, catalytic, 3
GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
GNPAT glyceronephosphate O-acyltransferase
GSC goosecoid homeobox
HDAC8 histone deacetylase 8
HPGD hydroxyprostaglandin dehydrogenase 15-(NAD)
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
IBA57 IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)
IFT122 intraflagellar transport 122
IFT27 intraflagellar transport 27
IGBP1 immunoglobulin (CD79A) binding protein 1
INSR insulin receptor
IRX5 iroquois homeobox 5
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNK9 potassium channel, two pore domain subfamily K, member 9
KDM5C lysine (K)-specific demethylase 5C
KDM6A lysine (K)-specific demethylase 6A
KIF7 kinesin family member 7
KLHL41 kelch-like family member 41
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LMBRD1 LMBR1 domain containing 1
LMNA lamin A/C
LRRC8A leucine rich repeat containing 8 family, member A
LTBP2 latent transforming growth factor beta binding protein 2
LZTFL1 leucine zipper transcription factor-like 1
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MEGF10 multiple EGF-like-domains 10
MEGF8 multiple EGF-like-domains 8
MID1 midline 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MOGS mannosyl-oligosaccharide glucosidase
MTM1 myotubularin 1
MUSK muscle, skeletal, receptor tyrosine kinase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NEB nebulin
NIPBL Nipped-B homolog (Drosophila)
NOTCH2 notch 2
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
OCLN occludin
OFD1 oral-facial-digital syndrome 1
ORC1 origin recognition complex, subunit 1
PAK3 p21 protein (Cdc42/Rac)-activated kinase 3
PDHX pyruvate dehydrogenase complex, component X
PEX1 peroxisomal biogenesis factor 1
PEX5 peroxisomal biogenesis factor 5
PGM3 phosphoglucomutase 3
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGN phosphatidylinositol glycan anchor biosynthesis, class N
PQBP1 polyglutamine binding protein 1
PTEN phosphatase and tensin homolog
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PTPN14 protein tyrosine phosphatase, non-receptor type 14
PUS1 pseudouridylate synthase 1
RAB23 RAB23, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAPSN receptor-associated protein of the synapse
RBM10 RNA binding motif protein 10
RECQL4 RecQ protein-like 4
RET ret proto-oncogene
RIN2 Ras and Rab interactor 2
RPS19 ribosomal protein S19
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SATB2 SATB homeobox 2
SC5D sterol-C5-desaturase
SCARF2 scavenger receptor class F, member 2
SEPN1 selenoprotein N, 1
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHOX short stature homeobox
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SLC17A5 solute carrier family 17 (acidic sugar transporter), member 5
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMAD3 SMAD family member 3
SMC3 structural maintenance of chromosomes 3
SMOC1 SPARC related modular calcium binding 1
SMS spermine synthase
SP7 Sp7 transcription factor
SPEG SPEG complex locus
SPRED1 sprouty-related, EVH1 domain containing 1
STAC3 SH3 and cysteine rich domain 3
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
TBC1D24 TBC1 domain family, member 24
TBX1 T-box 1
TBX4 T-box 4
TCTN3 tectonic family member 3
TGFB2 transforming growth factor, beta 2
TMCO1 transmembrane and coiled-coil domains 1
TMEM216 transmembrane protein 216
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TRIM32 tripartite motif containing 32
TTC8 tetratricopeptide repeat domain 8
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VTI1A vesicle transport through interaction with t-SNAREs 1A
WDPCP WD repeat containing planar cell polarity effector
WNT5A wingless-type MMTV integration site family, member 5A
WNT7A wingless-type MMTV integration site family, member 7A
ZBTB24 zinc finger and BTB domain containing 24
ZC4H2 zinc finger, C4H2 domain containing
ZDHHC15 zinc finger, DHHC-type containing 15
ZIC2 Zic family member 2