Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4236
Gene Symbol: MFAP1
MFAP1
CUI: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism 		0.020 Biomarker BEFREE The abnormal cyclic AMP response to parathyroid hormone in pseudohypoparathyroidism can evolve during childhood. 8185370

1994
Entrez Id: 4236
Gene Symbol: MFAP1
MFAP1
CUI: C0033806
Disease: Pseudohypoparathyroidism
Pseudohypoparathyroidism 		0.020 Biomarker BEFREE AHO refers to the phenotype of the syndromes of pseudo-hypoparathyroidism (PHP) type Ia and pseudopseudohypoparathyroidism (PPHP), both considered genetically related variants with a defect of the alpha subunit of the stimulatory G protein of adenylate cyclase, necessary for the action of parathyroid and other hormones using cyclic AMP as an intracellular second messenger. 8453149

1993