Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE We also found combinations of de novo (SLC20A1/SLC15A4) and transmitted variants (GLI2/LHX3) in the same individuals, leading to the full-blown CPHD phenotype. 29261175 2018
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE To test the role of wtPIT-1 (PITWT) or PIT-1 (R271W) (PIT271) in somatolactotroph cells, we established, using inducible lentiviral vectors, sublines of GH4C1 somatotroph cells that allow the blockade of the expression of endogenous PIT-1 and/or the expression of PITWT or PIT271, a dominant negative mutant of PIT-1 responsible for Combined Pituitary Hormone Deficiency in patients. 25822178 2015
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 Biomarker disease BEFREE Anti-PIT-1 (pituitary-specific transcription factor 1) antibody syndrome is a novel clinical entity that presents an acquired combined pituitary hormone deficiency characterized by a specific defect in growth hormone, prolactin, and thyroid-stimulating hormone. 25962206 2015
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE The genetic form of CPHD may originate from mutations in pituitary transcription factor (PTF) genes and the pituitary image in these cases may give a clue of what PTF is most probably mutated: defects in LHX4 are usually associated with ectopic posterior pituitary (EPP); defects in LHX3, PIT1, and PROP1, with normally placed posterior pituitary (NPPP); HESX1 mutations are associated with both. 18157385 2007
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 Biomarker disease BEFREE PROP1 and POU1F: Recessive mutations within the pituitary-specific transcription factor Prophet of Pit1, or PROP1, are associated with CPHD (GH, prolactin [PRL] and TSH deficiency with additional LH and FSH deficiency). 18174732 2007
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE It was found to be a major developmental regulator, because natural Pit-1 gene mutations cause a dwarf phenotype in mice and cause combined pituitary hormone deficiency associated with pituitary hypoplasia in humans. 16901973 2006
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE Long-term follow-up of combined pituitary hormone deficiency in two siblings with a Prophet of Pit-1 gene mutation. 17162714 2006
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 Biomarker disease BEFREE From these studies, we suggest that CBP/p300 recruitment and Pit-1 dimerization are necessary for Pit-1 target gene activation and are important in the pathogenesis of CPHD. 16263824 2006
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 Biomarker disease BEFREE Mutations in the genes encoding the transcription factors PROP1 and POUF-1 (Pit-1) have been reported as common causes of combined pituitary hormone deficiency (CPHD), and HESX1 mutations have been identified in children with septo-optic dysplasia (SOD).There are few data on UK children. 15670191 2005
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 Biomarker disease BEFREE MR evidence of normal or small anterior pituitary gland, enlarged empty sella, pituitary hyperplasia and/or intrasellar or suprasellar mass when associated with combined pituitary hormone deficiency call for molecular analysis of Pit-1, Prop-1, Hesx-1, or Lhx-3. 15279086 2004
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 Biomarker disease BEFREE A number of developmental genes known to be important for organ commitment and cell differentiation and proliferation (HESX1, LHX3, LHX4, PROP1 and PIT1) have been implicated in CPHD with or without other syndromic features. 15539793 2004
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE Pit-1 gene and Prop-1 gene mutations and deletions have been reported being responsible for CPHD. 15192287 2004
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE Mutations in the human PIT-1 gene lead to a combined pituitary hormone deficiency characterized by lack of GH, PRL and TSH. 12717343 2003
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE Familial combined pituitary hormone deficiency due to a novel mutation R99Q in the hot spot region of Prophet of Pit-1 presenting as constitutional growth delay. 12519826 2003
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE We describe a newborn with clinical signs of severe hypothyroidism and combined pituitary hormone deficiency due to a new mutation in the PIT-1 gene. 11847467 2001
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE Mutations of the PIT-1 and PROP-1 transcription factors are responsible for CPHD in some patients with normally positioned posterior pituitaries. 10946868 2000
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE Combined pituitary hormone deficiency and pituitary hypoplasia due to a mutation of the Pit-1 gene. 10792348 2000
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE The pituitary transcription factor Pit-1 is expressed during the later differentiation stages of anterior pituitary development and Pit-1 mutations have been identified as the cause of a combined pituitary hormone deficiency (CPHD) for GH, prolactin and TSH. 10698595 1999
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE In the present report, we provide in vivo evidence that retinoic acid induction of the Pit-1 gene can be impaired by a Pit-1 gene mutation, suggesting a new molecular mechanism for combined pituitary hormone deficiency in man. 10077004 1999
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE Pit-1 gene mutations result in complete growth hormone (GH) and PRL deficiencies and variable degrees of TSH deficiency, producing the clinical syndrome of combined pituitary hormone deficiency (CPHD). 9588494 1998
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE My laboratory and others have recently described several patients with combined pituitary hormone deficiency (CPHD) due to point mutations in the pit-1 gene. 9554467 1998
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE This case is the first demonstration of CPHD due to compound heterozygous Pit-1 point mutations, as most reported cases of the CPHD phenotype involve either the dominant negative R271W allele or homozygosity for recessive Pit-1 mutations. 9485179 1998
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 Biomarker disease BEFREE Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency. 9632165 1998
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE More than half of the families with a combined pituitary hormone deficiency have not disclosed any Pit-1 abnormalities. 9439906 1997
Entrez Id: 6574
Gene Symbol: SLC20A1
SLC20A1
0.100 GeneticVariation disease BEFREE Mutations in the Pit-1 gene result in insufficient expression of this factor, accounting for a form of combined pituitary hormone deficiency for growth hormone (GH), prolactin, and thyroid-stimulating hormone. 8805025 1996