small face Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A face that is short (HP:0011219) and narrow (HP:0000275). (Human Phenotype Ontology, HP_0000274)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000274
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Genes

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

Symbol Name
ACTA1 actin, alpha 1, skeletal muscle
AP4E1 adaptor-related protein complex 4, epsilon 1 subunit
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
B3GAT3 beta-1,3-glucuronyltransferase 3
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BLM Bloom syndrome, RecQ helicase-like
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CHD7 chromodomain helicase DNA binding protein 7
CLIP2 CAP-GLY domain containing linker protein 2
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
ELN elastin
EYA1 EYA transcriptional coactivator and phosphatase 1
FBN1 fibrillin 1
FBXL4 F-box and leucine-rich repeat protein 4
FGFR3 fibroblast growth factor receptor 3
FLNA filamin A, alpha
FMR1 fragile X mental retardation 1
GHR growth hormone receptor
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
INSR insulin receptor
LIG4 ligase IV, DNA, ATP-dependent
LIMK1 LIM domain kinase 1
LMNA lamin A/C
MED12 mediator complex subunit 12
MTM1 myotubularin 1
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NFIX nuclear factor I/X (CCAAT-binding transcription factor)
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NOG noggin
NSDHL NAD(P) dependent steroid dehydrogenase-like
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
PAX3 paired box 3
PCNT pericentrin
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PQBP1 polyglutamine binding protein 1
RBBP8 retinoblastoma binding protein 8
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
RUNX2 runt-related transcription factor 2
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SEPN1 selenoprotein N, 1
SLC16A2 solute carrier family 16, member 2 (thyroid hormone transporter)
SLC6A8 solute carrier family 6 (neurotransmitter transporter), member 8
SLC9A6 solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6
SOX9 SRY (sex determining region Y)-box 9
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TCOF1 Treacher Collins-Franceschetti syndrome 1
TNNI2 troponin I type 2 (skeletal, fast)
TNNT3 troponin T type 3 (skeletal, fast)
TPM2 tropomyosin 2 (beta)
TPM3 tropomyosin 3
TUBB4A tubulin, beta 4A class IVa
UBE3B ubiquitin protein ligase E3B
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
WRN Werner syndrome, RecQ helicase-like
ZDHHC9 zinc finger, DHHC-type containing 9
ZMPSTE24 zinc metallopeptidase STE24