KIF1B, kinesin family member 1B, 23095

N. diseases: 213; N. variants: 16
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2a1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861678
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 		0.900 Biomarker disease GENOMICS_ENGLAND Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing. 25802885 2015
CUI: C1861678
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 		0.900 Biomarker disease MGD Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. 11389829 2001
CUI: C1861678
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 		0.900 GermlineCausalMutation disease ORPHANET Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. 11389829 2001
CUI: C1861678
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 		0.900 GeneticVariation disease UNIPROT Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta. 11389829 2001
CUI: C1861678
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 		0.900 CausalMutation disease CLINVAR
CUI: C1861678
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2a1
Charcot-Marie-Tooth Disease, Axonal, Type 2a1 		0.900 Biomarker disease CTD_human