Results 1 -
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118
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Autosomal dominant
- ... 1 actin-like protein cytoskeletal gamma-actin deafness, autosomal dominant 20 deafness, autosomal dominant 26 DFNA20 DFNA26 gamma-actin Tests of ACTG1 ...
- The DYRK1A gene provides instructions for making an enzyme that is important in the development of the nervous system. The DYRK1A enzyme is a kinase, which ...
- ... responsible for about 85 percent of cases of autosomal dominant polycystic kidney disease (ADPKD), which is the most ... 1 PC1 PKD1_HUMAN polycystic kidney disease 1 (autosomal dominant) polycystin-1 TRPP1 Tests of PKD1 PubMed POLYCYSTIN ...
- ... for about 15 percent of all cases of autosomal dominant polycystic kidney disease (ADPKD), which is the most ... PC2 PKD2_HUMAN PKD4 polycystic kidney disease 2 (autosomal dominant) polycystin-2 TRPP2 Tests of PKD2 PubMed POLYCYSTIN ...
- ... and DFNB21.DFNA8/12 is inherited in an autosomal dominant pattern, which means one mutated copy of the ... mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss. Hum Mutat. 2011 Jul;32(7): ...
- ... Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families. Hum Mol Genet. ... CR, Yamoah EN. Cellular and molecular mechanisms of autosomal dominant form of progressive hearing loss, DFNA2. J Biol ...
- ... SPAST gene account for approximately 40 percent of autosomal dominant hereditary spastic paraplegias. More About This Health Condition ADPSP FSP2 KIAA1083 SPAST_HUMAN spastic paraplegia 4 (autosomal dominant; spastin) SPG4 Tests of SPAST PubMed SPASTIN; SPAST ...
- ... encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998 Dec;20(4): ...
- ... III, alpha 1 (Ehlers-Danlos syndrome type IV, autosomal dominant) EDS4A Tests of COL3A1 PubMed COLLAGEN, TYPE III, ...
- ... TUBB4A gene mutations. beta-5 dystonia 4, torsion (autosomal dominant) DYT4 TUBB4 tubulin beta-4 chain tubulin beta- ...
