Version: 8.0.0Date: Tue Jan 28 2025
Allele/Variant Diseases: autosomal genetic disease
Hsap\GFAPR79H.QUAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0319668
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Alexander disease
Variant Name: Not Available
Orc6Y225S.Orc6.UAS.GFP
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0319523
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Meier-Gorlin syndrome 3
Variant Name: Not Available
Pink1UAS.cUa
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0319548
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Parkinson's disease 6
Variant Name: Not Available
m299
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-980203-424
Genes: sec23a (Dre)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: craniolenticulosutural dysplasia
Variant Name: Not Available
Tg(PSEN1dE9)S9Dbo
(Mus musculus)Allele/Variant
Source: MGI:3618599
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Alzheimer's disease, Alzheimer's disease 3
Variant Name: Not Available
zh7
(Danio rerio)Allele/Variant
Source: ZFIN:ZDB-ALT-230821-6
Genes: slc1a2b (Dre)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 41
Variant Name: Not Available
Tg(Ckmm-Cav3)1Ysu
(Mus musculus)Allele/Variant
Source: MGI:2180562
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: rippling muscle disease 2, hypertrophic cardiomyopathy
Variant Name: Not Available
Smoc1Tn(sb-lacZ,GFP)IR3.PV384Jtak
(Mus musculus)Allele/Variant
Source: MGI:4941776
Genes: Smoc1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: microphthalmia with limb anomalies
Variant Name: Not Available
Tg(Gfap-GFAP*R239H)60TMIke
(Mus musculus)Allele/Variant
Source: MGI:3809243
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Alexander disease
Variant Name: Not Available
Frmd7tm1b(KOMP)Wtsi
(Mus musculus)Allele/Variant
Source: MGI:6489960
Genes: Frmd7 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: congenital nystagmus 1
Variant Name: Not Available
SeipinGD3208
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0206404
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: congenital generalized lipodystrophy
Variant Name: Not Available
Fancatm1.1Wong
(Mus musculus)Allele/Variant
Source: MGI:2674095
Genes: Fanca (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Fanconi anemia complementation group A
Variant Name: Not Available
spartin1
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0284233
Genes: spartin (Dme)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Troyer syndrome
Variant Name: Not Available
Hsap\SLC6A3V158F.UAS.YFP
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0337870
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: classic dopamine transporter deficiency syndrome
Variant Name: Not Available
Ras85DN17.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0048924
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Noonan syndrome 3
Variant Name: Not Available
Zzzz\UGGAAW.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0327167
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: spinocerebellar ataxia type 31
Variant Name: Not Available
Dspptm1Kul
(Mus musculus)Allele/Variant
Source: MGI:2653208
Genes: Dspp (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: dentinogenesis imperfecta, periodontal disease
Variant Name: Not Available
Hsap\HSPB3Y118H.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0397212
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: autosomal dominant distal hereditary motor neuronopathy 4
Variant Name: Not Available
Pex161
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0265692
Genes: Pex16 (Dme)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: peroxisome biogenesis disorder 8A, Zellweger syndrome
Variant Name: Not Available
Hsap\ATXN380Q-CAGCAA.UAS.cBa.Tag:HA
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0397476
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Machado-Joseph disease
Variant Name: Not Available
Pkd2tm2Som
(Mus musculus)Allele/Variant
Source: MGI:1860866
Genes: Pkd2 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: polycystic kidney disease 2
Variant Name: Not Available
Lmod3em1Eno
(Mus musculus)Allele/Variant
Source: MGI:5701345
Genes: Lmod3 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: nemaline myopathy 10
Variant Name: Not Available
Sall4tm1Brd
(Mus musculus)Allele/Variant
Source: MGI:3698290
Genes: Sall4 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: otitis media, Duane-radial ray syndrome
Variant Name: Not Available
daR566W.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0318117
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Pitt-Hopkins syndrome
Variant Name: Not Available
Juptm1Ruiz
(Mus musculus)Allele/Variant
Source: MGI:1861958
Genes: Jup (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: arrhythmogenic right ventricular dysplasia 12
Variant Name: Not Available
Uba5KO
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0397842
Genes: Uba5 (Dme)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 44
Variant Name: Not Available
Hsap\KIF5AΔ27.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0397473
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: amyotrophic lateral sclerosis type 25
Variant Name: Not Available
Nf1tm1c(KOMP)Wtsi
(Mus musculus)Allele/Variant
Source: MGI:6153138
Genes: Nf1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: neurofibromatosis 1
Variant Name: Not Available
Hsap\SPTBN2GM.UASp.Tag:MYC
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0265236
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: spinocerebellar ataxia type 5
Variant Name: Not Available
Ppil1em3Jgg
(Mus musculus)Allele/Variant
Source: MGI:6509459
Genes: Ppil1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: microcephaly, pontocerebellar hypoplasia type 14
Variant Name: Not Available
Hsap\ROBO1S1522L.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0386003
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: autosomal recessive congenital nystagmus
Variant Name: Not Available
Ift80Gt(AN0245)Wtsi
(Mus musculus)Allele/Variant
Source: MGI:3856827
Genes: Ift80 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: asphyxiating thoracic dystrophy 2, asphyxiating thoracic dystrophy 3
Variant Name: Not Available
NazoRNAi.UAS.cSa
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0399914
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: neurodegeneration with brain iron accumulation 4
Variant Name: Not Available
ok2335
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00093488
Genes: csb-1 (Cel)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: stop_lost, inframe_deletion, splice_donor_variant, splice_acceptor_variant, intron_variant
Diseases: Cockayne syndrome
Variant Name: Not Available
tm1892
(Caenorhabditis elegans)Allele/Variant
Source: WB:WBVar00250855
Genes: snpn-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: Hermansky-Pudlak syndrome
Variant Name: Not Available
Dhtkd1tm1Mmgu
(Mus musculus)Allele/Variant
Source: MGI:6441735
Genes: Dhtkd1 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: stop_gained
Diseases: Charcot-Marie-Tooth disease axonal type 2Q
Variant Name: Not Available
Pex32
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0298367
Genes: Pex3 (Dme)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: 5_prime_UTR_variant, coding_sequence_variant, splice_donor_variant, splice_acceptor_variant, intron_variant
Diseases: Zellweger syndrome
Variant Name: Not Available
Gata4tm1Grg
(Mus musculus)Allele/Variant
Source: MGI:5427934
Genes: Gata4 (Mmu)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: atrial heart septal defect 2
Variant Name: Not Available
sax1
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0015142
Genes: sax (Dme)
Synonyms: Not Available
Variant Type: point_mutation
Molecular Consequence: missense_variant
Diseases: fibrodysplasia ossificans progressiva
Variant Name: Not Available
Npr2pwe
(Mus musculus)Allele/Variant
Source: MGI:4358115
Genes: Npr2 (Mmu)
Synonyms: Not Available
Variant Type: deletion
Molecular Consequence: frameshift_variant
Diseases: acromesomelic dysplasia, Maroteaux type
Variant Name: Not Available
Prlrtm1Cnp
(Mus musculus)Allele/Variant
Source: MGI:1888377
Genes: Prlr (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: familial medullary thyroid carcinoma
Variant Name: Not Available
Tgfb2tm1Doe
(Mus musculus)Allele/Variant
Source: MGI:1888389
Genes: Tgfb2 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Loeys-Dietz syndrome
Variant Name: Not Available
Aicdaem1Jaych
(Mus musculus)Allele/Variant
Source: MGI:7511620
Genes: Aicda (Mmu)
Synonyms: Not Available
Variant Type: MNV
Molecular Consequence: missense_variant
Diseases: immunodeficiency with hyper-IgM type 2
Variant Name: Not Available
Col7a1em#Jtol
(Mus musculus)Allele/Variant
Source: MGI:6390909
Genes: Col7a1 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: recessive dystrophic epidermolysis bullosa
Variant Name: Not Available
Sgcatm1Eeng
(Mus musculus)Allele/Variant
Source: MGI:2656910
Genes: Sgca (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: autosomal recessive limb-girdle muscular dystrophy type 2D
Variant Name: Not Available
Hsap\KCNT1G288S.UAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0399595
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: developmental and epileptic encephalopathy 14, autosomal dominant nocturnal frontal lobe epilepsy 5
Variant Name: Not Available
Hsap\SNCAA53T.QUAS
(Drosophila melanogaster)Allele/Variant
Source: FB:FBal0399652
Genes: Not Available
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Parkinson's disease 1
Variant Name: Not Available
Elovl4tm1Wked
(Mus musculus)Allele/Variant
Source: MGI:3711216
Genes: Elovl4 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: Stargardt disease
Variant Name: Not Available
Krt5tm1Tmm
(Mus musculus)Allele/Variant
Source: MGI:2182612
Genes: Krt5 (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: epidermolysis bullosa simplex Dowling-Meara type
Variant Name: Not Available
Mefvtm3.1(MEFV)Chae
(Mus musculus)Allele/Variant
Source: MGI:5007912
Genes: Mefv (Mmu)
Synonyms: Not Available
Variant Type: unreported
Molecular Consequence: Not Available
Diseases: familial Mediterranean fever
Variant Name: Not Available