Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 113179
Gene Symbol: ADAT3
ADAT3
0.100 Biomarker disease HPO
Entrez Id: 9370
Gene Symbol: ADIPOQ
ADIPOQ
0.010 Biomarker disease BEFREE Relationship between IGF-I Concentration and Metabolic Profile in Children with Growth Hormone Deficiency: The Influence of Children's Nutritional State as well as the Ghrelin, Leptin, Adiponectin, and Resistin Serum Concentrations. 28596789 2017
Entrez Id: 23394
Gene Symbol: ADNP
ADNP
0.100 GeneticVariation disease CLINVAR
Entrez Id: 10555
Gene Symbol: AGPAT2
AGPAT2
0.100 Biomarker disease HPO
Entrez Id: 9049
Gene Symbol: AIP
AIP
0.010 AlteredExpression disease BEFREE We aimed to investigate possible AIP and GH co-secretion, through studying serum AIP and GH levels at baseline and after GH stimulation or suppression, in GH deficiency (GHD) and in acromegaly patients. 30830858 2019
Entrez Id: 80709
Gene Symbol: AKNA
AKNA
0.010 Biomarker disease BEFREE We showed that AKNA regulated by PKA/CREB and NF-κB pathway is a novel downstream molecular target in T-2 toxin-mediated inflammation and GH deficiency. 29079362 2017
Entrez Id: 10000
Gene Symbol: AKT3
AKT3
0.010 GeneticVariation disease BEFREE A novel de novo germline mutation Glu40Lys in AKT3 causes megalencephaly with growth hormone deficiency. 28190287 2017
Entrez Id: 213
Gene Symbol: ALB
ALB
0.010 Biomarker disease BEFREE Adipokine profile and urinary albumin excretion in isolated growth hormone deficiency. 20016047 2010
Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
0.100 Biomarker disease HPO
Entrez Id: 81693
Gene Symbol: AMN
AMN
0.010 Biomarker disease BEFREE This patient expands the phenotype X-AMN by adding growth hormone deficiency and hypothyroidism. 24685009 2014
Entrez Id: 348
Gene Symbol: APOE
APOE
0.010 Biomarker disease BEFREE Children with a GH deficiency carrying apoE4 had higher baseline LDL-C concentrations and experienced a greater reduction in LDL-C after GH replacement therapy than those without apoE4. 26120788 2015
Entrez Id: 367
Gene Symbol: AR
AR
0.010 Biomarker disease BEFREE Baseline cranial MRI, AIS motor and sensory scale, quality of life (spinal cord impact measurement) and modified Ashworth spasticity scale, quantitative sensory testing and neurophysiological exploration were assessed at baseline, 1, 3 and 6 months following treatment.Results Thirteen had GH deficiency. 30352393 2018
Entrez Id: 9915
Gene Symbol: ARNT2
ARNT2
0.100 Biomarker disease HPO
Entrez Id: 650
Gene Symbol: BMP2
BMP2
0.010 Biomarker disease BEFREE A heterozygous microdeletion of 20p12.2-3 encompassing PROKR2 and BMP2 in a patient with congenital hypopituitarism and growth hormone deficiency. 28586151 2017
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
0.100 GeneticVariation disease CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966 2017
Entrez Id: 26580
Gene Symbol: BSCL2
BSCL2
0.100 Biomarker disease HPO
Entrez Id: 695
Gene Symbol: BTK
BTK
0.120 Biomarker disease HPO
Entrez Id: 695
Gene Symbol: BTK
BTK
0.120 GeneticVariation disease BEFREE X-linked hypogammaglobulinemia with isolated growth hormone deficiency is not caused by Bruton's tyrosine kinase mutations in the family described originally, but may be due to a mutation in myeloid elf-1-like factor. 16264330 2005
Entrez Id: 695
Gene Symbol: BTK
BTK
0.120 GeneticVariation disease BEFREE We have analyzed the btk gene of a patient with XLA and IGHD. 8013627 1994
Entrez Id: 857
Gene Symbol: CAV1
CAV1
0.100 Biomarker disease HPO
Entrez Id: 284119
Gene Symbol: CAVIN1
CAVIN1
0.100 Biomarker disease HPO
Entrez Id: 947
Gene Symbol: CD34
CD34
0.010 Biomarker disease BEFREE The Impact of Growth Hormone Therapy on the Apoptosis Assessment in CD34+ Hematopoietic Cells from Children with Growth Hormone Deficiency. 28067847 2017
Entrez Id: 1028
Gene Symbol: CDKN1C
CDKN1C
0.100 Biomarker disease HPO
Entrez Id: 1952
Gene Symbol: CELSR2
CELSR2
0.010 GeneticVariation disease BEFREE Here, we report bi-allelic mutations in CELSR2 in a Joubert patient with cortical heterotopia, microophthalmia, and growth hormone deficiency. 28052552 2017
Entrez Id: 1081
Gene Symbol: CGA
CGA
0.010 Biomarker disease BEFREE Abbreviations: GH: growth hormone; GHD: growth hormone deficiency; HCG: human chorionic gonadotropin; IVF: in vitro fertilization; IGF: insulin like growth factor. 29975109 2019