adrenal insufficiency Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Insufficient production of steroid hormones (primarily cortisol) by the adrenal glands as a result of a primary defect in the glands themselves. (Human Phenotype Ontology, HP_0000846)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000846
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Genes

64 genes associated with the adrenal insufficiency phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
AAAS achalasia, adrenocortical insufficiency, alacrimia
ABCD1 ATP-binding cassette, sub-family D (ALD), member 1
AIRE autoimmune regulator
BMP4 bone morphogenetic protein 4
CCDC22 coiled-coil domain containing 22
COX1
COX2
COX3
CRH corticotropin releasing hormone
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
GATA4 GATA binding protein 4
GK glycerol kinase
GLI3 GLI family zinc finger 3
GMPPA GDP-mannose pyrophosphorylase A
HBB hemoglobin, beta
HESX1 HESX homeobox 1
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
KIAA0196 KIAA0196
LHX4 LIM homeobox 4
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MCM4 minichromosome maintenance complex component 4
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
ND1
NDN necdin, melanoma antigen (MAGE) family member
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NR0B1 nuclear receptor subfamily 0, group B, member 1
NR5A1 nuclear receptor subfamily 5, group A, member 1
PCSK1 proprotein convertase subtilisin/kexin type 1
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PROP1 PROP paired-like homeobox 1
RBM28 RNA binding motif protein 28
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SIX6 SIX homeobox 6
SNRPN small nuclear ribonucleoprotein polypeptide N
SRY sex determining region Y
TCTN3 tectonic family member 3
VAMP7 vesicle-associated membrane protein 7
VANGL2 VANGL planar cell polarity protein 2
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase