abnormal adrenal gland morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the medulla (Mammalian Phenotype Ontology, MP_0000639)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0000639
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83 gene mutations causing the abnormal adrenal gland morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
ACD adrenocortical dysplasia homolog (mouse)
ADAM19 ADAM metallopeptidase domain 19
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1
AIP aryl hydrocarbon receptor interacting protein
AIRE autoimmune regulator
ANXA1 annexin A1
APC adenomatous polyposis coli
APOE apolipoprotein E
ARID5B AT rich interactive domain 5B (MRF1-like)
ASIP agouti signaling protein
ATG5 autophagy related 5
AVPR1A arginine vasopressin receptor 1A
AVPR1B arginine vasopressin receptor 1B
B4GALT1 UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1
BRCA2 breast cancer 2, early onset
CCDC151 coiled-coil domain containing 151
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CENPJ centromere protein J
CHGB chromogranin B
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CRH corticotropin releasing hormone
CRHR1 corticotropin releasing hormone receptor 1
CXCR2 chemokine (C-X-C motif) receptor 2
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
DFNB31 deafness, autosomal recessive 31
DRD2 dopamine receptor D2
EGLN3 egl-9 family hypoxia-inducible factor 3
ERBB3 erb-b2 receptor tyrosine kinase 3
FGFR2 fibroblast growth factor receptor 2
FOXD1 forkhead box D1
GLI3 GLI family zinc finger 3
GLRB glycine receptor, beta
H6PD hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)
HMGA2 high mobility group AT-hook 2
HSD11B1 hydroxysteroid (11-beta) dehydrogenase 1
IGF2 insulin-like growth factor 2
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
LCAT lecithin-cholesterol acyltransferase
LDLR low density lipoprotein receptor
LEPR leptin receptor
LHCGR luteinizing hormone/choriogonadotropin receptor
LHX3 LIM homeobox 3
LIPA lipase A, lysosomal acid, cholesterol esterase
LY6E lymphocyte antigen 6 complex, locus E
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MEN1 multiple endocrine neoplasia I
NKX2-1 NK2 homeobox 1
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR5A1 nuclear receptor subfamily 5, group A, member 1
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
OSR1 odd-skipped related transciption factor 1
PBX1 pre-B-cell leukemia homeobox 1
PDPK1 3-phosphoinositide dependent protein kinase 1
PEX13 peroxisomal biogenesis factor 13
PEX2 peroxisomal biogenesis factor 2
PEX7 peroxisomal biogenesis factor 7
POMC proopiomelanocortin
RET ret proto-oncogene
SCG5 secretogranin V
SERP1 stress-associated endoplasmic reticulum protein 1
SLC23A2 solute carrier family 23 (ascorbic acid transporter), member 2
SOAT1 sterol O-acyltransferase 1
SOX10 SRY (sex determining region Y)-box 10
SPTBN1 spectrin, beta, non-erythrocytic 1
STAR steroidogenic acute regulatory protein
STX1B syntaxin 1B
TBX19 T-box 19
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TLR2 toll-like receptor 2
VAMP2 vesicle-associated membrane protein 2 (synaptobrevin 2)
VAV2 vav 2 guanine nucleotide exchange factor
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase