Isolated Somatotropin Deficiency Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C3714796
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Genes

156 genes associated with the disease Isolated Somatotropin Deficiency in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ADAT3 adenosine deaminase, tRNA-specific 3
ADIPOQ adiponectin, C1Q and collagen domain containing
ADNP activity-dependent neuroprotector homeobox
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AIP aryl hydrocarbon receptor interacting protein
AKNA AT-hook transcription factor
AKT3 v-akt murine thymoma viral oncogene homolog 3
ALB albumin
ALMS1 Alstrom syndrome protein 1
AMN amnion associated transmembrane protein
APOE apolipoprotein E
AR androgen receptor
ARNT2 aryl-hydrocarbon receptor nuclear translocator 2
BMP2 bone morphogenetic protein 2
BPTF bromodomain PHD finger transcription factor
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
BTK Bruton agammaglobulinemia tyrosine kinase
CAV1 caveolin 1, caveolae protein, 22kDa
CAVIN1 caveolae associated protein 1
CD34 CD34 molecule
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CELSR2 cadherin, EGF LAG seven-pass G-type receptor 2
CGA glycoprotein hormones, alpha polypeptide
CGB chorionic gonadotropin, beta polypeptide
CGB5 chorionic gonadotropin, beta polypeptide 5
CGB8 chorionic gonadotropin, beta polypeptide 8
CHD7 chromodomain helicase DNA binding protein 7
CLCN5 chloride channel, voltage-sensitive 5
CLCNKB chloride channel, voltage-sensitive Kb
COG4 component of oligomeric golgi complex 4
CREB1 cAMP responsive element binding protein 1
CRP C-reactive protein, pentraxin-related
CYCS cytochrome c, somatic
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
DCAF17 DDB1 and CUL4 associated factor 17
EGFR epidermal growth factor receptor
EIF2S3 eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa
FANCI Fanconi anemia, complementation group I
FBRS fibrosin
FBXO8 F-box protein 8
FLNB filamin B, beta
FOS FBJ murine osteosarcoma viral oncogene homolog
FSD1 fibronectin type III and SPRY domain containing 1
FSD1L fibronectin type III and SPRY domain containing 1-like
GCG glucagon
GCH1 GTP cyclohydrolase 1
GH1 growth hormone 1
GHR growth hormone receptor
GHRH growth hormone releasing hormone
GHRHR growth hormone releasing hormone receptor
GHSR growth hormone secretagogue receptor
GLI2 GLI family zinc finger 2
GLI3 GLI family zinc finger 3
GMNN geminin, DNA replication inhibitor
GNAS GNAS complex locus
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GPR101 G protein-coupled receptor 101
GPR161 G protein-coupled receptor 161
HERC2 HECT and RLD domain containing E3 ubiquitin protein ligase 2
HESX1 HESX homeobox 1
HGH1 HGH1 homolog (S. cerevisiae)
HLCS holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)
HP haptoglobin
HRAS Harvey rat sarcoma viral oncogene homolog
IARS2 isoleucyl-tRNA synthetase 2, mitochondrial
IFT172 intraflagellar transport 172
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF2 insulin-like growth factor 2
IGFALS insulin-like growth factor binding protein, acid labile subunit
IGFBP3 insulin-like growth factor binding protein 3
IGSF1 immunoglobulin superfamily, member 1
IL1A interleukin 1, alpha
JAK2 Janus kinase 2
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KDM6A lysine (K)-specific demethylase 6A
KIAA0556 KIAA0556
KIAA0753 KIAA0753
KMT2A lysine (K)-specific methyltransferase 2A
KMT2D lysine (K)-specific methyltransferase 2D
LDLR low density lipoprotein receptor
LEP leptin
LEPR leptin receptor
LHX3 LIM homeobox 3
LHX4 LIM homeobox 4
LMNA lamin A/C
LPL lipoprotein lipase
MAGEL2 melanoma antigen family L2
MARS2 methionyl-tRNA synthetase 2, mitochondrial
MKRN3 makorin ring finger protein 3
MSTO1 misato 1, mitochondrial distribution and morphology regulator
NDN necdin, melanoma antigen (MAGE) family member
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NPAP1 nuclear pore associated protein 1
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
OTX2 orthodenticle homeobox 2
PAX6 paired box 6
PCSK1 proprotein convertase subtilisin/kexin type 1
PDE4D phosphodiesterase 4D, cAMP-specific
PHEX phosphate regulating endopeptidase homolog, X-linked
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PITX2 paired-like homeodomain 2
PNPLA6 patatin-like phospholipase domain containing 6
POLE polymerase (DNA directed), epsilon, catalytic subunit
POLG polymerase (DNA directed), gamma
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POMC proopiomelanocortin
POU1F1 POU class 1 homeobox 1
POU3F4 POU class 3 homeobox 4
PPARG peroxisome proliferator-activated receptor gamma
PPP1CB protein phosphatase 1, catalytic subunit, beta isozyme
PREPL prolyl endopeptidase-like
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PRL prolactin
PROKR2 prokineticin receptor 2
PROP1 PROP paired-like homeobox 1
PTH parathyroid hormone
PUF60 poly-U binding splicing factor 60KDa
RBM28 RNA binding motif protein 28
REN renin
RETN resistin
RFWD3 ring finger and WD repeat domain 3
RNPC3 RNA-binding region (RNP1, RRM) containing 3
SDS serine dehydratase
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SHH sonic hedgehog
SHOX short stature homeobox
SIN3A SIN3 transcription regulator family member A
SLC20A1 solute carrier family 20 (phosphate transporter), member 1
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC7A7 solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
SMC1A structural maintenance of chromosomes 1A
SNRPN small nuclear ribonucleoprotein polypeptide N
SOCS2 suppressor of cytokine signaling 2
SOD1 superoxide dismutase 1, soluble
SOX2 SRY (sex determining region Y)-box 2
SOX3 SRY (sex determining region Y)-box 3
SRD5A3 steroid 5 alpha-reductase 3
SST somatostatin
STAT5A signal transducer and activator of transcription 5A
STAT5B signal transducer and activator of transcription 5B
STX16 syntaxin 16
TBCE tubulin folding cofactor E
TBX2 T-box 2
TBX3 T-box 3
TBX5 T-box 5
TH tyrosine hydroxylase
THOC2 THO complex 2
TMEM67 transmembrane protein 67
TP63 tumor protein p63
TRPS1 trichorhinophalangeal syndrome I
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WASHC5 WASH complex subunit 5
XYLT1 xylosyltransferase I
ZNF711 zinc finger protein 711