abnormal birth body size Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in average body size at birth compared to controls (Mammalian Phenotype Ontology, MP_0009701)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009701
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Genes

166 gene mutations causing the abnormal birth body size phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA12 ATP-binding cassette, sub-family A (ABC1), member 12
ABHD5 abhydrolase domain containing 5
ADRA2B adrenoceptor alpha 2B
ADRM1 adhesion regulating molecule 1
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ANK1 ankyrin 1, erythrocytic
APEX2 APEX nuclease (apurinic/apyrimidinic endonuclease) 2
AZIN1 antizyme inhibitor 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BMP7 bone morphogenetic protein 7
BNC2 basonuclin 2
BRCA2 breast cancer 2, early onset
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
CASP9 caspase 9, apoptosis-related cysteine peptidase
CDO1 cysteine dioxygenase type 1
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CHD2 chromodomain helicase DNA binding protein 2
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CITED1 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1
CLIC4 chloride intracellular channel 4
CLP1 cleavage and polyadenylation factor I subunit 1
CNOT3 CCR4-NOT transcription complex, subunit 3
CYLD cylindromatosis (turban tumor syndrome)
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DACT1 dishevelled-binding antagonist of beta-catenin 1
DGAT2 diacylglycerol O-acyltransferase 2
DGKD diacylglycerol kinase, delta 130kDa
DHCR7 7-dehydrocholesterol reductase
DHRS3 dehydrogenase/reductase (SDR family) member 3
DMTF1 cyclin D binding myb-like transcription factor 1
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DNM2 dynamin 2
DNMT3B DNA (cytosine-5-)-methyltransferase 3 beta
DOCK1 dedicator of cytokinesis 1
DSE dermatan sulfate epimerase
DSG4 desmoglein 4
DUSP16 dual specificity phosphatase 16
DYM dymeclin
EIF4E2 eukaryotic translation initiation factor 4E family member 2
ELOVL1 ELOVL fatty acid elongase 1
EPAS1 endothelial PAS domain protein 1
ERBB3 erb-b2 receptor tyrosine kinase 3
ERCC1 excision repair cross-complementation group 1
ERRFI1 ERBB receptor feedback inhibitor 1
ESR1 estrogen receptor 1
ESRRG estrogen-related receptor gamma
FAT4 FAT atypical cadherin 4
FGF18 fibroblast growth factor 18
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
FKRP fukutin related protein
FOXJ1 forkhead box J1
FREM2 FRAS1 related extracellular matrix protein 2
GBA glucosidase, beta, acid
GDF5 growth differentiation factor 5
GGA1 golgi-associated, gamma adaptin ear containing, ARF binding protein 1
GGA2 golgi-associated, gamma adaptin ear containing, ARF binding protein 2
GGA3 golgi-associated, gamma adaptin ear containing, ARF binding protein 3
GHR growth hormone receptor
GLG1 golgi glycoprotein 1
GLIS3 GLIS family zinc finger 3
GNAS GNAS complex locus
GRB10 growth factor receptor-bound protein 10
GRID2 glutamate receptor, ionotropic, delta 2
GSC goosecoid homeobox
HAT1 histone acetyltransferase 1
HDAC2 histone deacetylase 2
HELLS helicase, lymphoid-specific
HIPK2 homeodomain interacting protein kinase 2
HMGA2 high mobility group AT-hook 2
HNRNPD heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HSPB11 heat shock protein family B (small), member 11
IFT80 intraflagellar transport 80
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGF2BP1 insulin-like growth factor 2 mRNA binding protein 1
IGF2R insulin-like growth factor 2 receptor
IGFBP4 insulin-like growth factor binding protein 4
ILF3 interleukin enhancer binding factor 3, 90kDa
ILK integrin-linked kinase
IRS1 insulin receptor substrate 1
IRS2 insulin receptor substrate 2
JAK1 Janus kinase 1
KDM6A lysine (K)-specific demethylase 6A
KIF1A kinesin family member 1A
KMT2A lysine (K)-specific methyltransferase 2A
KRT16 keratin 16, type I
LIN28A lin-28 homolog A (C. elegans)
LLGL2 lethal giant larvae homolog 2 (Drosophila)
LRP6 low density lipoprotein receptor-related protein 6
MAD2L2 MAD2 mitotic arrest deficient-like 2 (yeast)
MAPK6 mitogen-activated protein kinase 6
MNT MAX network transcriptional repressor
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYCBP2 MYC binding protein 2, E3 ubiquitin protein ligase
NABP2 nucleic acid binding protein 2
NCOA6 nuclear receptor coactivator 6
NEK1 NIMA-related kinase 1
NEK7 NIMA-related kinase 7
NES nestin
NIPBL Nipped-B homolog (Drosophila)
NRD1 nardilysin (N-arginine dibasic convertase)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PAPPA pregnancy-associated plasma protein A, pappalysin 1
PAPPA2 pappalysin 2
PAX6 paired box 6
PAX7 paired box 7
PDPK1 3-phosphoinositide dependent protein kinase 1
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PEX7 peroxisomal biogenesis factor 7
PFDN1 prefoldin subunit 1
PGF placental growth factor
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIKFYVE phosphoinositide kinase, FYVE finger containing
PKDCC protein kinase domain containing, cytoplasmic
PKNOX1 PBX/knotted 1 homeobox 1
PLAGL1 pleiomorphic adenoma gene-like 1
POLB polymerase (DNA directed), beta
PPP1R15B protein phosphatase 1, regulatory subunit 15B
PTP4A2 protein tyrosine phosphatase type IVA, member 2
PYGO2 pygopus family PHD finger 2
RAD23B RAD23 homolog B (S. cerevisiae)
RASA3 RAS p21 protein activator 3
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RND3 Rho family GTPase 3
ROR2 receptor tyrosine kinase-like orphan receptor 2
RRAGA Ras-related GTP binding A
RUNX2 runt-related transcription factor 2
RYR1 ryanodine receptor 1 (skeletal)
SC5D sterol-C5-desaturase
SEC23B Sec23 homolog B (S. cerevisiae)
SHOX2 short stature homeobox 2
SLC17A6 solute carrier family 17 (vesicular glutamate transporter), member 6
SLC18A2 solute carrier family 18 (vesicular monoamine transporter), member 2
SLC34A1 solute carrier family 34 (type II sodium/phosphate cotransporter), member 1
SLC4A2 solute carrier family 4 (anion exchanger), member 2
SLC4A4 solute carrier family 4 (sodium bicarbonate cotransporter), member 4
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SMAD7 SMAD family member 7
SMARCAD1 SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1
SNRPN small nuclear ribonucleoprotein polypeptide N
SOX11 SRY (sex determining region Y)-box 11
SP3 Sp3 transcription factor
STIM1 stromal interaction molecule 1
STXBP3 syntaxin binding protein 3
SYNE1 spectrin repeat containing, nuclear envelope 1
TBX18 T-box 18
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TET1 tet methylcytosine dioxygenase 1
TSN translin
UBR4 ubiquitin protein ligase E3 component n-recognin 4
UROS uroporphyrinogen III synthase
USF2 upstream transcription factor 2, c-fos interacting
UTF1 undifferentiated embryonic cell transcription factor 1
WDR48 WD repeat domain 48
XIRP2 xin actin binding repeat containing 2
XPNPEP1 X-prolyl aminopeptidase (aminopeptidase P) 1, soluble
YY1 YY1 transcription factor