Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 Biomarker disease HPO
Entrez Id: 2778
Gene Symbol: GNAS
GNAS
0.700 Biomarker disease MGD
Entrez Id: 8675
Gene Symbol: STX16
STX16
0.150 Biomarker disease HPO
Entrez Id: 5144
Gene Symbol: PDE4D
PDE4D
0.130 Biomarker disease HPO
Entrez Id: 5573
Gene Symbol: PRKAR1A
PRKAR1A
0.120 Biomarker disease HPO
Entrez Id: 149775
Gene Symbol: GNAS-AS1
GNAS-AS1
0.110 Biomarker disease HPO
Entrez Id: 54496
Gene Symbol: PRMT7
PRMT7
0.110 Biomarker disease HPO
Entrez Id: 80347
Gene Symbol: COASY
COASY
0.050 Biomarker disease BEFREE 1964), we argue that published accounts and our own cases provide evidence that the condition is related to pseudo-hypoparathyroidism (PHP) and, therefore, may be due to a defect in a guanine nucleotide binding protein. 1410084 1992
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE Pseudohypoparathyroidism (PHP), the first described example of a hormone resistance disorder, is characterized by renal resistance to parathyroid hormone (PTH) proximal to generation of the second messenger, cAMP. 10698594 1999
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE Pseudohypoparathyroidism 1b: exclusion of parathyroid hormone and its receptors as candidate disease genes. 10852457 2000
Entrez Id: 6658
Gene Symbol: SOX3
SOX3
0.070 GeneticVariation disease BEFREE Pseudohypoparathyroidism 1b (PHP 1b) is characterized by specific resistance of target tissues to PTH, but no mutations in the PTH/PTH-related peptide (PTHrP) receptor gene have been identified. 10852457 2000
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
0.070 GeneticVariation disease BEFREE Pseudohypoparathyroidism 1b (PHP 1b) is characterized by specific resistance of target tissues to PTH, but no mutations in the PTH/PTH-related peptide (PTHrP) receptor gene have been identified. 10852457 2000
Entrez Id: 29085
Gene Symbol: PHPT1
PHPT1
0.070 GeneticVariation disease BEFREE Pseudohypoparathyroidism 1b (PHP 1b) is characterized by specific resistance of target tissues to PTH, but no mutations in the PTH/PTH-related peptide (PTHrP) receptor gene have been identified. 10852457 2000
Entrez Id: 5744
Gene Symbol: PTHLH
PTHLH
0.030 GeneticVariation disease BEFREE Pseudohypoparathyroidism 1b (PHP 1b) is characterized by specific resistance of target tissues to PTH, but no mutations in the PTH/PTH-related peptide (PTHrP) receptor gene have been identified. 10852457 2000
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE Pseudohypoparathyroidism (PHP) refers to two major variants that generally coexist in the same family, PHP type Ia (PHP Ia), in which both PTH resistance and a constellation of physical features, termed Albright's hereditary osteodystrophy (AHO), are present, and pseudopseudohypoparathyroidism (PPHP), in which AHO occurs without PTH resistance. 11095461 2000
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE Pseudohypoparathyroidism Ia (PHP Ia) is characterized by resistance to PTH and many other stimuli because of deficiency of stimulatory G protein alpha-subunit. 11443172 2001
Entrez Id: 6658
Gene Symbol: SOX3
SOX3
0.070 Biomarker disease BEFREE Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, obesity, round face, brachydactyly, and subcutaneous ossification. 11450852 2001
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
0.070 Biomarker disease BEFREE Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, obesity, round face, brachydactyly, and subcutaneous ossification. 11450852 2001
Entrez Id: 29085
Gene Symbol: PHPT1
PHPT1
0.070 Biomarker disease BEFREE Pseudohypoparathyroidism Ia (PHP-Ia), is an inherited disease with clinical hypoparathyroidism caused by parathyroid hormone resistance (PTH), and shows the phenotype of Albright hereditary osteodystrophy (AHO), including short stature, obesity, round face, brachydactyly, and subcutaneous ossification. 11450852 2001
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 AlteredExpression disease BEFREE Pseudohypoparathyroidism (PHP) is characterized by biochemical hypoparathyroidism with elevated parathyroid hormone levels owing to reduced target tissue responsiveness to parathyroid hormone. 12619926 2003
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE Pseudohypoparathyroidism (PHP) is associated with biochemical hypoparathyroidism (i.e. hypocalcemia and hyperphosphatemia) due to parathyroid hormone (PTH) resistance rather than to PTH deficiency. 14671404 2003
Entrez Id: 5741
Gene Symbol: PTH
PTH
0.100 Biomarker disease BEFREE Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH). 15711092 2005
Entrez Id: 6658
Gene Symbol: SOX3
SOX3
0.070 Biomarker disease BEFREE Pseudohypoparathyroidism type la (PHP-1a) is an uncommon disorder that results from an inactivating mutation in the GNAS gene. 16995592 2006
Entrez Id: 427
Gene Symbol: ASAH1
ASAH1
0.070 Biomarker disease BEFREE Pseudohypoparathyroidism type la (PHP-1a) is an uncommon disorder that results from an inactivating mutation in the GNAS gene. 16995592 2006
Entrez Id: 29085
Gene Symbol: PHPT1
PHPT1
0.070 Biomarker disease BEFREE Pseudohypoparathyroidism type la (PHP-1a) is an uncommon disorder that results from an inactivating mutation in the GNAS gene. 16995592 2006