abnormality of the adrenal glands Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the adrenal glands, i.e., of the endocrine glands located at the top of the kindneys. (Human Phenotype Ontology, HP_0000834)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000834
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Genes

126 genes associated with the abnormality of the adrenal glands 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
ANTXR2 anthrax toxin receptor 2
APC adenomatous polyposis coli
ARMC5 armadillo repeat containing 5
BMP4 bone morphogenetic protein 4
BSND barttin CLCNK-type chloride channel accessory beta subunit
CCDC22 coiled-coil domain containing 22
CDKN1A cyclin-dependent kinase inhibitor 1A (p21, Cip1)
CDKN1B cyclin-dependent kinase inhibitor 1B (p27, Kip1)
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CDKN2B cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)
CDKN2C cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)
CHD7 chromodomain helicase DNA binding protein 7
CHEK2 checkpoint kinase 2
CLCNKA chloride channel, voltage-sensitive Ka
CLCNKB chloride channel, voltage-sensitive Kb
COX1
COX2
COX3
CRH corticotropin releasing hormone
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
GATA4 GATA binding protein 4
GIP gastric inhibitory polypeptide
GK glycerol kinase
GLI3 GLI family zinc finger 3
GMPPA GDP-mannose pyrophosphorylase A
GNAS GNAS complex locus
H19 H19, imprinted maternally expressed transcript (non-protein coding)
HBB hemoglobin, beta
HESX1 HESX homeobox 1
HSD11B2 hydroxysteroid (11-beta) dehydrogenase 2
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
HYLS1 hydrolethalus syndrome 1
ICK intestinal cell (MAK-like) kinase
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1
KCNJ10 potassium channel, inwardly rectifying subfamily J, member 10
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KIAA0196 KIAA0196
LHX4 LIM homeobox 4
LIPA lipase A, lysosomal acid, cholesterol esterase
LMNA lamin A/C
MAP3K1 mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase
MCM4 minichromosome maintenance complex component 4
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEN1 multiple endocrine neoplasia I
MKS1 Meckel syndrome, type 1
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
NDE1 nudE neurodevelopment protein 1
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
NR3C2 nuclear receptor subfamily 3, group C, member 2
NR5A1 nuclear receptor subfamily 5, group A, member 1
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
OCRL oculocerebrorenal syndrome of Lowe
PCSK1 proprotein convertase subtilisin/kexin type 1
PDE11A phosphodiesterase 11A
PDE8B phosphodiesterase 8B
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
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
POR P450 (cytochrome) oxidoreductase
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PROP1 PROP paired-like homeobox 1
PTEN phosphatase and tensin homolog
RBM28 RNA binding motif protein 28
RET ret proto-oncogene
SCNN1A sodium channel, non voltage gated 1 alpha subunit
SCNN1B sodium channel, non voltage gated 1 beta subunit
SCNN1G sodium channel, non voltage gated 1 gamma subunit
SDHB succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
SDHC succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SIX3 SIX homeobox 3
SIX6 SIX homeobox 6
SLC12A1 solute carrier family 12 (sodium/potassium/chloride transporter), member 1
SLC26A3 solute carrier family 26 (anion exchanger), member 3
SNRPN small nuclear ribonucleoprotein polypeptide N
SRY sex determining region Y
TBC1D7 TBC1 domain family, member 7
TBX19 T-box 19
TCOF1 Treacher Collins-Franceschetti syndrome 1
TCTN3 tectonic family member 3
TNXB tenascin XB
TP53 tumor protein p53
VAMP7 vesicle-associated membrane protein 7
VANGL2 VANGL planar cell polarity protein 2
WNT3 wingless-type MMTV integration site family, member 3
WNT4 wingless-type MMTV integration site family, member 4
WT1 Wilms tumor 1
WWOX WW domain containing oxidoreductase
ZMPSTE24 zinc metallopeptidase STE24