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127 Possible Causes for DENND5A, gene

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  • Autosomal Recessive Stickler Syndrome

    […] associated with mutations of COL9A1 (OMIM 120210) and COL9A2 (OMIM 120260) genes.[ncbi.nlm.nih.gov] SLC2A1, SLC9A6, SPTAN1, STXBP1, TBCE, TCF4, TREX1, UBE3A, ZEB2)Pan42Encefalopatia epilettica infantile precoce (AARS, ALG13, AP3B2, ARHGEF9, ARV1, ARX, CACNA1A, CAD, CDKL5, DENND5A[bredagenetics.com] Together the data from the present study and the previous studies suggest that loss-of-function mutations in any of the collagen IX genes can cause autosomal recessive Stickler[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy Type 1

    (sequence analysis of CDKL5 gene)[cgcgenetics.com] COX8A , CPS1 , CPT1A , CPT2 , CRADD , CSF1R , CSTB , CTC1 , CTNS , CTSA , CTSD , CTSF , CUL4B , CYP27A1 , D2HGDH , DAG1 , DARS , DARS2 , DBT , DCHS1 , DCX , DDOST , DDX3X , DENND5A[humangenetik-tuebingen.de] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Familial Cerebral Cavernous Malformation

    Distribution and function of mutations in the CCM2 gene.[journal.frontiersin.org] SLC2A1, SLC9A6, SPTAN1, STXBP1, TBCE, TCF4, TREX1, UBE3A, ZEB2)Pan42Encefalopatia epilettica infantile precoce (AARS, ALG13, AP3B2, ARHGEF9, ARV1, ARX, CACNA1A, CAD, CDKL5, DENND5A[bredagenetics.com] Our findings provided new CCM1 gene mutation profiles, which help to elucidate the pathogenesis of FCCM and will be of great significance in genetic counseling.[ncbi.nlm.nih.gov]

  • Deafness, Autosomal Dominant 23

    الصفحة 108 - Mutation in mitochondrial tRNAIeu (UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness. Nat. Genet. ‏[books.google.com] Dyskinesia, seizures, and intellectual developmental disorder 617171 602635 Autosomal recessive DENND5A 11p15.4 Epileptic encephalopathy, early infantile, 49 617281 617278[mnglabs.com] These children have one working copy of the gene and one copy of the gene that does not work correctly.[genesinlife.org]

  • Early Infantile Epileptic Encephalopathy 28

    Order single gene WWOX Order this gene as a single gene test.[invitae.com] They found that mutations in DENND5A lead to a lack of the DENND5A protein, resulting in underdevelopment of the central nervous system.[medicalxpress.com] Order single gene KCNT1 Order this gene as a single gene test.[invitae.com]

  • Autosomal Recessive Spastic Paraplegia Type 20

    Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] Dyskinesia, seizures, and intellectual developmental disorder 617171 602635 Autosomal recessive DENND5A 11p15.4 Epileptic encephalopathy, early infantile, 49 617281 617278[mnglabs.com] Mutations associated with this gene cause autosomal recessive spastic paraplegia 20 (Troyer syndrome). [provided by RefSeq, Nov 2008][targetexplorer.ingenuity.com]

  • Wiedemann-Steiner Syndrome

    Home / Genetic Testing / Test Catalogue / By Medical Specialty / Wiedemann-Steiner syndrome (sequence analysis of KMT2A gene) Back to results Wiedemann-Steiner syndrome (sequence[cgcgenetics.com] GABBR2, GABRB1, PIGQ, PPP2R1A, PIGP, RYR3, KCND2, YWHAG, FASN, AP3B2, JMJD1C, PIK3AP1, PPP3CA, ARHGEF15, SNX27, CNTN2, ITPA, NUS1, RAB11A, STRADA, KPNA7, GUF1, HECW2, RBFOX3, DENND5A[mendelian.co] Libby Woolford by Jennifer Rose Springsteen ... funds.gfmcdn.com The National Wiedemann Steiner Syndrome Society HD - YouTube i.ytimg.com De Novo variants in the KMT2A (MLL) gene[hccoder.info]

  • Early Infantile Epileptic Encephalopathy

    […] catalytic domain of the gene.[ncbi.nlm.nih.gov] GABRB1 [HSA: 2560 ] [KO: K05181 ] (EIEE46) GRIN2D [HSA: 2906 ] [KO: K05212 ] (EIEE47) FGF12 [HSA: 2257 ] [KO: K22413 ] (EIEE48) AP3B2 [HSA: 8120 ] [KO: K12397 ] (EIEE49) DENND5A[genome.jp] COX8A , CPS1 , CPT1A , CPT2 , CRADD , CSF1R , CSTB , CTC1 , CTNS , CTSA , CTSD , CTSF , CUL4B , CYP27A1 , D2HGDH , DAG1 , DARS , DARS2 , DBT , DCHS1 , DCX , DDOST , DDX3X , DENND5A[humangenetik-tuebingen.de]

  • Early Infantile Epileptic Encephalopathy 13

    No mutations in this gene were found in a larger gene panel study , indicating that epilepsy-causing variation in this gene, if present at all, is very rare.[euroepinomics.wordpress.com] GABRB1 [HSA: 2560 ] [KO: K05181 ] (EIEE46) GRIN2D [HSA: 2906 ] [KO: K05212 ] (EIEE47) FGF12 [HSA: 2257 ] [KO: K22413 ] (EIEE48) AP3B2 [HSA: 8120 ] [KO: K12397 ] (EIEE49) DENND5A[genome.jp] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Autosomal Recessive Spastic Paraplegia 5B

    Genes and mapped phenotypes Gene ID: 6685, updated on 8-Apr-2017 Summary Official Symbol SPG5B provided by HGNC Official Full Name spastic paraplegia 5B (autosomal recessive[ncbi.nlm.nih.gov] (incluye Encefalopatia Epilepticas) (97 genes, EPI02) AARS, ALDH7A1, ALG13, AMT, AP3B2, ARHGEF9, ARV1, ARX, BRAT1, CACNA1A, CAD, CASK, CDKL5, CHD2, CLCN4, CNNM2, DDX3X, DENND5A[web.gencellpharma.com] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

Further symptoms