Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant
Species
Category
Variant Type
Molecular Consequence
Diseases
Genes
Construct Expressed Component
Construct Knockdown Component
Construct Regulatory Region
Allele/Variant Diseases: Emery-Dreifuss muscular dystrophy
Zmpste24tm1Otin
(Mus musculus)Allele/Variant
Source: MGI:2180033
Genes: Zmpste24 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: progeria, Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy
Variant Name: Not Available
LamCK521Q.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0385556
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: autosomal recessive Emery-Dreifuss muscular dystrophy 3
Variant Name: Not Available
gk119
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00145526
Genes: emr-1 (Cel)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Emery-Dreifuss muscular dystrophy
Variant Name: Not Available
Syne1tm1.1Mcn
(Mus musculus)Allele/Variant
Source: MGI:3834378
Genes: Syne1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Emery-Dreifuss muscular dystrophy
Variant Name: Not Available
Msp3003prime
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0218044
Genes: Msp300 (Dme)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Emery-Dreifuss muscular dystrophy
Variant Name: Not Available
tm1582
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00250567
Genes: lem-2 (Cel)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Emery-Dreifuss muscular dystrophy
Variant Name: Not Available
LamCR564P.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0385557
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: autosomal dominant Emery-Dreifuss muscular dystrophy 2
Variant Name: Not Available
Msp300HMS00632
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0257316
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Emery-Dreifuss muscular dystrophy
Variant Name: Not Available
LamCΔN.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0189784
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: autosomal dominant Emery-Dreifuss muscular dystrophy 2
Variant Name: Not Available
LamCΔK47.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0385553
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: autosomal dominant Emery-Dreifuss muscular dystrophy 2
Variant Name: Not Available
Lmnatm1Stw
(Mus musculus)Allele/Variant
Source: MGI:2177930
Genes: Lmna (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Emery-Dreifuss muscular dystrophy, Charcot-Marie-Tooth disease type 2B1, dilated cardiomyopathy 1A
Variant Name: Not Available
Msp300HMS00368
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0248133
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Emery-Dreifuss muscular dystrophy
Variant Name: Not Available
LamCR401K.hs
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0189729
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: autosomal dominant Emery-Dreifuss muscular dystrophy 2
Variant Name: Not Available
Lmnatm1Gbon
(Mus musculus)Allele/Variant
Source: MGI:3527206
Genes: Lmna (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy 1A
Variant Name: Not Available
tm1502
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00250494
Genes: lmn-1 (Cel)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: 5_prime_UTR_variant, coding_sequence_variant, splice_donor_variant, splice_acceptor_variant, intron_variant
Diseases: progeria, Emery-Dreifuss muscular dystrophy
Variant Name: Not Available
Msp300ΔKASH
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0218007
Genes: Msp300 (Dme)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: coding_sequence_variant, 3_prime_UTR_variant, splice_donor_variant, splice_acceptor_variant, intron_variant
Diseases: Emery-Dreifuss muscular dystrophy
Variant Name: Not Available
klarΔ1-18
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0277658
Genes: klar (Dme)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: non_coding_transcript_exon_variant, transcript_ablation
Diseases: Emery-Dreifuss muscular dystrophy
Variant Name: Not Available