triangular face Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. (Human Phenotype Ontology, HP_0000325)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000325
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Genes

66 genes associated with the triangular face phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
A2ML1 alpha-2-macroglobulin-like 1
ANKRD11 ankyrin repeat domain 11
ARID1B AT rich interactive domain 1B (SWI1-like)
ARX aristaless related homeobox
BMP1 bone morphogenetic protein 1
BRAF B-Raf proto-oncogene, serine/threonine kinase
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCDC8 coiled-coil domain containing 8
CDC6 cell division cycle 6
CEP57 centrosomal protein 57kDa
CHL1 cell adhesion molecule L1-like
CNTN4 contactin 4
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
CRBN cereblon
CUL7 cullin 7
DCAF17 DDB1 and CUL4 associated factor 17
FKBP10 FK506 binding protein 10, 65 kDa
GBA glucosidase, beta, acid
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HMGA2 high mobility group AT-hook 2
JAG1 jagged 1
KAT6B K(lysine) acetyltransferase 6B
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KRAS Kirsten rat sarcoma viral oncogene homolog
LEMD3 LEM domain containing 3
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MVK mevalonate kinase
MYCN v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NALCN sodium leak channel, non selective
NOTCH2 notch 2
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
OBSL1 obscurin-like 1
ORC6 origin recognition complex, subunit 6
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX19 peroxisomal biogenesis factor 19
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
POC1A POC1 centriolar protein A
PQBP1 polyglutamine binding protein 1
PTF1A pancreas specific transcription factor, 1a
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PYCR1 pyrroline-5-carboxylate reductase 1
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RAI1 retinoic acid induced 1
RIT1 Ras-like without CAAX 1
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
SOS1 son of sevenless homolog 1 (Drosophila)
SPRED1 sprouty-related, EVH1 domain containing 1
SRCAP Snf2-related CREBBP activator protein
SULF1 sulfatase 1
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
TRIM37 tripartite motif containing 37
TRPS1 trichorhinophalangeal syndrome I