abnormal pituitary gland morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the compound gland suspended from the base of the hypothalamus, which secretes somatotropins, prolactin, TSH (thyroid-stimulating hormone), gonadotropins, adrenal corticotropin from the anterior lobe; melanocyte stimulating hormone from the intermediate lobe and hormones involved in blood pressure regulation from the posterior lobe (Mammalian Phenotype Ontology, MP_0000633)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000633
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88 gene mutations causing the abnormal pituitary gland morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AES amino-terminal enhancer of split
ANXA1 annexin A1
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
ATCAY ataxia, cerebellar, Cayman type
ATG5 autophagy related 5
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BMP4 bone morphogenetic protein 4
CACNA2D2 calcium channel, voltage-dependent, alpha 2/delta subunit 2
CACNB4 calcium channel, voltage-dependent, beta 4 subunit
CDK4 cyclin-dependent kinase 4
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CGA glycoprotein hormones, alpha polypeptide
CHD7 chromodomain helicase DNA binding protein 7
CSHL1 chorionic somatomammotropin hormone-like 1
CYCS cytochrome c, somatic
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
DDR2 discoidin domain receptor tyrosine kinase 2
DISP1 dispatched homolog 1 (Drosophila)
DMD dystrophin
DRD2 dopamine receptor D2
DUOX2 dual oxidase 2
EGR1 early growth response 1
ESR1 estrogen receptor 1
FGF10 fibroblast growth factor 10
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR2 fibroblast growth factor receptor 2
FOXC1 forkhead box C1
FSHR follicle stimulating hormone receptor
FUZ fuzzy planar cell polarity protein
GAL galanin/GMAP prepropeptide
GHR growth hormone receptor
GHRH growth hormone releasing hormone
GHRHR growth hormone releasing hormone receptor
GSX1 GS homeobox 1
HES1 hes family bHLH transcription factor 1
HESX1 HESX homeobox 1
HHEX hematopoietically expressed homeobox
HMX2 H6 family homeobox 2
HMX3 H6 family homeobox 3
INSM1 insulinoma-associated 1
IRS2 insulin receptor substrate 2
ISL1 ISL LIM homeobox 1
KL klotho
LATS1 large tumor suppressor kinase 1
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
MARK2 MAP/microtubule affinity-regulating kinase 2
MBD5 methyl-CpG binding domain protein 5
MEN1 multiple endocrine neoplasia I
NBEA neurobeachin
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NKX2-1 NK2 homeobox 1
NOG noggin
NPC1 Niemann-Pick disease, type C1
NR5A1 nuclear receptor subfamily 5, group A, member 1
OTP orthopedia homeobox
OTX2 orthodenticle homeobox 2
PAX8 paired box 8
PGAP1 post-GPI attachment to proteins 1
PITX1 paired-like homeodomain 1
PITX2 paired-like homeodomain 2
POU1F1 POU class 1 homeobox 1
POU3F2 POU class 3 homeobox 2
PRL prolactin
PROP1 PROP paired-like homeobox 1
PTPRS protein tyrosine phosphatase, receptor type, S
SCG5 secretogranin V
SERP1 stress-associated endoplasmic reticulum protein 1
SIM1 single-minded family bHLH transcription factor 1
SIX1 SIX homeobox 1
SIX6 SIX homeobox 6
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SMPD3 sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SYTL4 synaptotagmin-like 4
TBX19 T-box 19
TCF7L2 transcription factor 7-like 2 (T-cell specific, HMG-box)
TCOF1 Treacher Collins-Franceschetti syndrome 1
THRB thyroid hormone receptor, beta
TPST2 tyrosylprotein sulfotransferase 2
TPX2 TPX2, microtubule-associated
TRH thyrotropin-releasing hormone
TSHR thyroid stimulating hormone receptor
WNT4 wingless-type MMTV integration site family, member 4
WWOX WW domain containing oxidoreductase