small for gestational age Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Smaller than normal size according to sex and gestational age related norms, defined as a weight below the 10th percentile for the gestational age. (Human Phenotype Ontology, HP_0001518)
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60 genes associated with the small for gestational age phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ACTB actin, beta
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
CCDC8 coiled-coil domain containing 8
CEP57 centrosomal protein 57kDa
CNTN1 contactin 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
CUL7 cullin 7
DNM2 dynamin 2
DOK7 docking protein 7
EMG1 EMG1 N1-specific pseudouridine methyltransferase
EPCAM epithelial cell adhesion molecule
ERCC2 excision repair cross-complementation group 2
ERCC3 excision repair cross-complementation group 3
ERCC6 excision repair cross-complementation group 6
FAM111A family with sequence similarity 111, member A
FANCA Fanconi anemia, complementation group A
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FBXL4 F-box and leucine-rich repeat protein 4
GCK glucokinase (hexokinase 4)
GK glycerol kinase
GTF2H5 general transcription factor IIH, polypeptide 5
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
IGHMBP2 immunoglobulin mu binding protein 2
INS insulin
INSR insulin receptor
KANSL1 KAT8 regulatory NSL complex subunit 1
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
MRPS16 mitochondrial ribosomal protein S16
MTO1 mitochondrial tRNA translation optimization 1
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
NPHS1 nephrosis 1, congenital, Finnish type (nephrin)
NSUN2 NOP2/Sun RNA methyltransferase family, member 2
ORC1 origin recognition complex, subunit 1
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
POC1A POC1 centriolar protein A
POR P450 (cytochrome) oxidoreductase
PTS 6-pyruvoyltetrahydropterin synthase
RAPSN receptor-associated protein of the synapse
RBBP8 retinoblastoma binding protein 8
SBDS Shwachman-Bodian-Diamond syndrome
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
STAMBP STAM binding protein
TGFB3 transforming growth factor, beta 3
THRB thyroid hormone receptor, beta
TMEM70 transmembrane protein 70
TSHR thyroid stimulating hormone receptor
TTC37 tetratricopeptide repeat domain 37
UBR1 ubiquitin protein ligase E3 component n-recognin 1
VPS13B vacuolar protein sorting 13 homolog B (yeast)
ZNF335 zinc finger protein 335