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: C4747715
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT 		0.600 Biomarker disease GENOMICS_ENGLAND In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. 30054298 2018
CUI: C4749003
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT 		0.600 Biomarker disease GENOMICS_ENGLAND In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. 30054298 2018
CUI: C4749003
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. 30054298 2018
CUI: C4747715
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. 28635954 2017
CUI: C4749003
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT Phenotypic extremes of BICD2-opathies: from lethal, congenital muscular atrophy with arthrogryposis to asymptomatic with subclinical features. 28635954 2017
CUI: C4749003
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT Recurrent de novo BICD2 mutation associated with arthrogryposis multiplex congenita and bilateral perisylvian polymicrogyria. 27751653 2016
CUI: C4747715
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT 		0.600 GermlineCausalMutation disease ORPHANET Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. 23664119 2013
CUI: C4747715
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. 23664120 2013
CUI: C4747715
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT 		0.600 Biomarker disease GENOMICS_ENGLAND Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. 23664116 2013
CUI: C4747715
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. 23664119 2013
CUI: C4747715
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT 		0.600 GeneticVariation disease UNIPROT Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy. 23664116 2013
CUI: C4747715
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2A, CHILDHOOD ONSET, AUTOSOMAL DOMINANT 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C4749003
Disease: SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT
SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY-PREDOMINANT, 2B, PRENATAL ONSET, AUTOSOMAL DOMINANT 		0.600 CausalMutation disease CLINVAR
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 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 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 CLINVAR
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.430 Biomarker disease HPO
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.400 Biomarker phenotype GENOMICS_ENGLAND In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. 30054298 2018
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.400 GeneticVariation phenotype CLINVAR
CUI: C0235659
Disease: Reduced fetal movement
Reduced fetal movement 		0.400 Biomarker phenotype HPO
CUI: C0033999
Disease: Pterygium
Pterygium 		0.310 GeneticVariation disease BEFREE Another stillborn infant with pterygia and arthrogryposis had a heterozygous de novo likely pathogenic variant in BICD2. 29274205 2018
CUI: C0033999
Disease: Pterygium
Pterygium 		0.310 Biomarker disease GENOMICS_ENGLAND In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. 30054298 2018
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.300 Biomarker disease GENOMICS_ENGLAND In-frame de novo mutation in BICD2 in two patients with muscular atrophy and arthrogryposis. 30054298 2018