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Allele/Variant

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Species

Drosophila melanogaster199

Mus musculus57

Caenorhabditis elegans9

Danio rerio1

Category

allele229

allele with one variant35

allele with multiple variants2

Variant Type

Molecular Consequence

missense variant11

5 prime UTR variant10

intron variant6

coding sequence variant4

splice donor variant4

Diseases

disease of mental health266

monogenic disease181

syndrome15

chromosomal disease4

central nervous system disease3

Genes

Construct Expressed Component

Construct Knockdown Component

Construct Regulatory Region

266 results

Page 1 of 6

Allele/Variant Diseases: intellectual disability

Hsap\MTSS2^R671W.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0385404

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: intellectual developmental disorder with ocular anomalies and distinctive facial features

Variant Name: Not Available

Disease (1)

Hsap\TMEM208^{F59fs13.UAS.Tag:HA}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0399614

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: syndromic intellectual disability

Variant Name: Not Available

Disease (1)

Cper\nagJ^{DM.UASz.Tag:HA,GFP}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0398955

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: non-syndromic X-linked intellectual disability 106

Variant Name: Not Available

Disease (1)

Hsap\U2AF2^R149W.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0398127

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: developmental delay, dysmorphic facies, and brain anomalies

Variant Name: Not Available

Disease (1)

Hsap\U2AF2^R150C.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0398128

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: developmental delay, dysmorphic facies, and brain anomalies

Variant Name: Not Available

Disease (1)

Iqsec2^em1Csbg

(Mus musculus)

Allele/Variant

Source: MGI:6392156

Genes: Iqsec2 (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: non-syndromic X-linked intellectual disability

Variant Name: Not Available

scu^HMS02305

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0279304

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: syndromic X-linked intellectual disability type 10

Variant Name: Not Available

Disease (1)

Bptf^tm1.1Cwu

(Mus musculus)

Allele/Variant

Source: MGI:3841297

Genes: Bptf (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Variant Name: Not Available

Hsap\PSMC1^I255T.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0384446

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss

Variant Name: Not Available

Disease (1)

ATP6AP2^GD2871

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0205872

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: congenital disorder of glycosylation, syndromic X-linked intellectual disability

Variant Name: Not Available

Disease (2)

drl^GD2537

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0209425

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: intellectual disability

Variant Name: Not Available

Disease (1)

Mbd5^{Gt(Ayu21-B205)Imeg}

(Mus musculus)

Allele/Variant

Source: MGI:3923358

Genes: Mbd5 (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal dominant intellectual developmental disorder

Variant Name: Not Available

sxc^GD6968

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0207873

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: non-syndromic X-linked intellectual disability 106

Variant Name: Not Available

Disease (1)

U2af50^HMC03810

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0294369

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: developmental delay, dysmorphic facies, and brain anomalies

Variant Name: Not Available

Disease (1)

BOD1^GD11677

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0204708

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: intellectual disability

Variant Name: Not Available

Disease (1)

Crbn^tm1.2Jjh

(Mus musculus)

Allele/Variant

Source: MGI:5302192

Genes: Crbn (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal recessive intellectual developmental disorder

Variant Name: Not Available

Rab39b^tm1Pdad

(Mus musculus)

Allele/Variant

Source: MGI:7547217

Genes: Rab39b (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: non-syndromic X-linked intellectual disability 72

Variant Name: Not Available

Hsap\DOT1L^{T100M.UAS.Tag:HA}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0397205

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: syndromic intellectual disability

Variant Name: Not Available

Disease (1)

Hsap\DOT1L^{K1025M.UAS.Tag:HA}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0397209

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: syndromic intellectual disability

Variant Name: Not Available

Disease (1)

U2af50^JF02693

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0242281

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: developmental delay, dysmorphic facies, and brain anomalies

Variant Name: Not Available

Disease (1)

Hsap\NONO^{P459A.UAS.Tag:MYC}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0387549

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: syndromic X-linked intellectual disability 34

Variant Name: Not Available

Disease (1)

Ube3a^C941A.UAS

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0244600

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: intellectual disability

Variant Name: Not Available

Disease (1)

Hsap\PPFIA3^{R415W.UAS.Tag:HA}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0398011

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal dominant intellectual developmental disorder

Variant Name: Not Available

Disease (1)

Slc9a6^tm1Dgen

(Mus musculus)

Allele/Variant

Source: MGI:3604561

Genes: Slc9a6 (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Christianson syndrome

Variant Name: Not Available

Sce^KO

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0268443

Genes: Sce (Dme)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Luo-Schoch-Yamamoto syndrome

Variant Name: Not Available

tm3004

(Caenorhabditis elegans)

Allele/Variant

Source: WB:WBVar00251793

Genes: pqbp-1.1 (Cel)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: Renpenning syndrome

Variant Name: Not Available

Zdhhc9^tm1Lex

(Mus musculus)

Allele/Variant

Source: MGI:5007410

Genes: Zdhhc9 (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: syndromic X-linked intellectual disability Raymond type

Variant Name: Not Available

Trappc9^{tm1a(EUCOMM)Wtsi}

(Mus musculus)

Allele/Variant

Source: MGI:4461737

Genes: Trappc9 (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: intellectual disability

Variant Name: Not Available

oy42

(Caenorhabditis elegans)

Allele/Variant

Source: WB:WBVar00095039

Genes: alr-1 (Cel)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: non-syndromic X-linked intellectual disability 1

Variant Name: Not Available

Gprasp2^tm1.1Jpe

(Mus musculus)

Allele/Variant

Source: MGI:6287842

Genes: Gprasp2 (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autism spectrum disorder, intellectual disability

Variant Name: Not Available

Nab2^ex3

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0265606

Genes: Nab2 (Dme)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal recessive intellectual developmental disorder

Variant Name: Not Available

Hivep2^tm1Sis

(Mus musculus)

Allele/Variant

Source: MGI:2182914

Genes: Hivep2 (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: schizophrenia, intellectual disability

Variant Name: Not Available

Kdm5^R873W.Tag:HA

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0366861

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: syndromic X-linked intellectual disability Claes-Jensen type

Variant Name: Not Available

Disease (1)

simj^KK107461

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0234949

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: intellectual disability

Variant Name: Not Available

Disease (1)

Ufc1^KK107529

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0234993

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with spasticity and poor growth

Variant Name: Not Available

Disease (1)

oy56

(Caenorhabditis elegans)

Allele/Variant

Source: WB:WBVar00095043

Genes: alr-1 (Cel)

Synonyms: Not Available

Variant Type: point_mutation

Molecular Consequence: splice_donor_variant

Diseases: non-syndromic X-linked intellectual disability 1

Variant Name: Not Available

Nsun6^Δ44

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0393158

Genes: Nsun6 (Dme)

Synonyms: Not Available

Variant Type: deletion

Molecular Consequence: non_coding_transcript_exon_variant, inframe_deletion

Diseases: syndromic intellectual disability

Variant Name: Not Available

Mast1^em1Dak

(Mus musculus)

Allele/Variant

Source: MGI:6356292

Genes: Mast1 (Mmu)

Synonyms: Not Available

Variant Type: deletion

Molecular Consequence: inframe_deletion

Diseases: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations

Variant Name: Not Available

tm3713

(Caenorhabditis elegans)

Allele/Variant

Source: WB:WBVar00252326

Genes: jmjd-1.2 (Cel)

Synonyms: Not Available

Variant Type: deletion

Molecular Consequence: coding_sequence_variant, splice_donor_variant, splice_acceptor_variant, intron_variant

Diseases: syndromic X-linked intellectual disability

Variant Name: Not Available

Sms^e00382

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0185631

Genes: Sms (Dme)

Synonyms: Not Available

Variant Type: insertion

Molecular Consequence: intron_variant

Diseases: syndromic X-linked intellectual disability Snyder type

Variant Name: Not Available

Cper\nagJ^{UASz.Tag:HA,GFP}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0398954

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: non-syndromic X-linked intellectual disability 106

Variant Name: Not Available

Disease (1)

if^JF02695

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0242283

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: intellectual disability

Variant Name: Not Available

Disease (1)

Hsap\PPFIA3^{R39C.UAS.Tag:HA}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0398009

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: autosomal dominant intellectual developmental disorder

Variant Name: Not Available

Disease (1)

Hsap\DOT1L^{C45G.UAS.Tag:HA}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0397204

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: syndromic intellectual disability

Variant Name: Not Available

Disease (1)

Set1^HMS01837

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0278954

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with speech impairment and dysmorphic facies

Variant Name: Not Available

Disease (1)

Hnrnph2^em2Jpat

(Mus musculus)

Allele/Variant

Source: MGI:7539576

Genes: Hnrnph2 (Mmu)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: syndromic X-linked intellectual developmental disorder bain type

Variant Name: Not Available

sxc^R313P

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0375029

Genes: sxc (Dme)

Synonyms: Not Available

Variant Type: delins

Molecular Consequence: protein_altering_variant

Diseases: non-syndromic X-linked intellectual disability 106

Variant Name: Not Available

sif^{MI02376-TG4.2}

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0374526

Genes: sif (Dme)

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: neurodevelopmental disorder with language delay and seizures

Variant Name: Not Available

Ube3a^UAS.cWa

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0244599

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: intellectual disability

Variant Name: Not Available

Disease (1)

BOD1^HMS00720

(Drosophila melanogaster)

Allele/Variant

Source: FB:FBal0257403

Genes: Not Available

Synonyms: Not Available

Variant Type: unreported

Molecular Consequence: Not Available

Diseases: intellectual disability

Variant Name: Not Available

Disease (1)

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