BICD2, BICD cargo adaptor 2, 23299

N. diseases: 97; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021642
Disease: Abnormality of the Achilles tendon
Abnormality of the Achilles tendon 		0.100 Biomarker disease HPO
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0857379
Disease: Abnormality of the pinna
Abnormality of the pinna 		0.100 Biomarker phenotype HPO
CUI: C0234146
Disease: Absent reflex
Absent reflex 		0.100 Biomarker phenotype HPO
CUI: C1854882
Disease: Absent speech
Absent speech 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation disease BEFREE Interestingly, the BICD2-N transgene increased lifespan in 'low copy' SOD1-G93A ALS transgenic mice. 18579581 2008
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.430 Biomarker disease GENOMICS_ENGLAND Missense mutations in <i>BICD2</i> cause autosomal dominant spinal muscular atrophy, lower-extremity predominant 2 (SMALED2), a disease characterized by muscle weakness and arthrogryposis of early onset and slow progression. 30054298 2018
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.430 GeneticVariation disease CLINVAR
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.430 GeneticVariation disease BEFREE Here we report unusual extremes of BICD2-related diseases: A severe form of congenital muscular atrophy with arthrogryposis multiplex, respiratory insufficiency and lethality within four months. 28635954 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.430 GeneticVariation disease BEFREE Our results broaden the phenotypes associated with BICD2 mutations to include AMC and cortical malformations and therefore to a similar phenotypic spectrum to that associated with its binding partner DYNC1H1. 27751653 2016
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.430 GeneticVariation disease BEFREE Another stillborn infant with pterygia and arthrogryposis had a heterozygous de novo likely pathogenic variant in BICD2. 29274205 2018
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.430 Biomarker disease HPO
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		0.100 Biomarker phenotype HPO
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		0.100 Biomarker disease HPO
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 GeneticVariation disease CLINVAR
CUI: C4551583
Disease: Cerebral cortical atrophy
Cerebral cortical atrophy 		0.100 Biomarker disease HPO
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly 		0.100 Biomarker phenotype HPO
CUI: C4524092
Disease: Chronic rhinosinusitis with nasal polyps
Chronic rhinosinusitis with nasal polyps 		0.010 Biomarker disease BEFREE Our study indicates that HLCS, HLA-DRA, BICD2, VSIR and SLC5A1 could be involved in the pathogenesis of chronic rhinosinusitis with nasal polyps. 29253858 2017
CUI: C0431375
Disease: Classical Lissencephaly
Classical Lissencephaly 		0.010 Biomarker disease BEFREE BicD2 and Lis1 together control the overall efficiency of motility initiation. 29038173 2017
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Our results broaden the phenotypes associated with BICD2 mutations to include AMC and cortical malformations and therefore to a similar phenotypic spectrum to that associated with its binding partner DYNC1H1. 27751653 2016
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 GeneticVariation group BEFREE Rescue experiments with wildtype and disease-related mutant BICD2 constructs revealed that a point-mutation in the RAB6/RANBP2-binding-domain, associated with cortical malformation in patients, fails to restore proper cortical neuron migration. 31655624 2019
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		0.100 Biomarker disease HPO
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		0.100 Biomarker disease HPO