DYNC2H1, dynein cytoplasmic 2 heavy chain 1, 79659

N. diseases: 136; N. variants: 159
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.350 GeneticVariation disease BEFREE Intriguingly, IFT gene mutations also cause eye, kidney and brain ciliopathies often linked to defects in the transition zone (TZ), a ciliary gate implicated in Hedgehog signalling.Here, we identify a <i>C. elegans</i> temperature-sensitive (<i>ts</i>) IFT-dynein mutant (<i>che-3</i>; human DYNC2H1) and use it to show a role for retrograde IFT in anterograde transport and ciliary maintenance. 30429209 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.350 GeneticVariation disease BEFREE DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy. 28257607 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.350 Biomarker disease BEFREE All six IFT-A components and their motor protein, DYNC2H1, have been linked to human skeletal ciliopathies, including asphyxiating thoracic dystrophy (ATD; also known as Jeune syndrome), Sensenbrenner syndrome, and Mainzer-Saldino syndrome (MZSDS). 24140113 2013
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.350 Biomarker disease BEFREE Deficiency of IFT proteins, including DYNC2H1, underlies a spectrum of skeletal ciliopathies. 24183451 2013
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.350 GeneticVariation disease BEFREE We further substantiate a proposed digenic diallelic inheritance of ciliopathies by the identification of heterozygous mutations in NEK1 and DYNC2H1 in an additional family. 21211617 2011
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
0.350 Biomarker disease GENOMICS_ENGLAND