All diseases

11 entries on 1 page. Showing entries 1 - 11.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01043 - bleeding time, prolonged, brachydactyly and mental retardation - - - - GNAS - -
00228 AIMAH1 hyperplasia, adrenal, ACTH-independent, macronodular, type 1 (AIMAH-1) 219080 SMu - - GNAS - -
00139 ID intellectual disability (ID) - - 2714 2396 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 554 more - -
00227 MAS;POFD McCune-Albright syndrome (MAS, polyostotic fibrous dysplasia (POFD)) 174800 - 11 9 GNAS - -
01044 PAGH1 pituitary adenoma, type 1, multiple types (PITA1) 102200 AD;SMu - - AIP, GNAS, SSTR5 - -
00223 PHP1A pseudohypoparathyroidism, type Ia (PHP-1A, Albright hereditary osteodystrophy (AHO)) 103580 AD;IC 249 333 GNAS - round face, full cheeks, depressed nasal bridge; seizure (HP:0001250)no hypotonia (-HP:0001252); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); multiple hormone resistance, subcutaneous calcification
00222 PHP1B pseudohypoparathyroidism, type Ib (PHP-1B) 603233 AD 7 3 GNAS, GNAS-AS1, STX16 - -
00224 PHP1C pseudohypoparathyroidism, type Ic (PHP-1C) 612462 PI 6 6 GNAS - round face, full cheeks, depressed nasal bridge; seizure (HP:0001250)no hypotonia (-HP:0001252); no hypotonia (-HP:0001252); short stature (HP:0004322); obesity (HP:0001513); digital abnormalities (HP_0011297); multiple hormone resistance, subcutaneous calcification
06512 PITA3 Pituitary adenoma 3, multiple types, somatic 617686 - - - GNAS - -
00226 POH heteroplasia, osseous, progressive (POH) 166350 AD 27 15 GNAS - -
00225 PPHP pseudopseudohypoparathyroidism (PPHP) 612463 AD 29 21 GNAS - -
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