Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5626
Gene Symbol: PROP1
PROP1
0.130 GeneticVariation 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: 5626
Gene Symbol: PROP1
PROP1
0.130 GeneticVariation disease BEFREE Prolonged jaundice and hypothyroidism as the presenting symptoms in a neonate with a novel Prop1 gene mutation (Q83X). 15012608 2004
Entrez Id: 5626
Gene Symbol: PROP1
PROP1
0.130 GeneticVariation disease BEFREE The genetic abnormalities include mutations within: (1) Hesx1 (IGHD, SOD or CPHD); (2) Lhx3 (CPHD with preservation of cortisol secretion and a short stiff neck); (3) Lhx4 (GH, TSH and ACTH deficiency with cerebellar hypoplasia); (4) Prop1 (variable CPHD often associated with pituitary masses); (5) POU1F1 (GH, prolactin and TSH deficiency); (6) GHRHR (IGHD) and (7) GH1 (IGHD). 12914740 2003
Entrez Id: 5626
Gene Symbol: PROP1
PROP1
0.130 Biomarker disease HPO