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68 Possible Causes for RRAS2, 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] SHOC2, SOS1, SPRED1) Pan140 Sindrome di Noonan, LEOPARD, Costello e CFC, esteso (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2[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]

  • Familial Cerebral Cavernous Malformation

    Distribution and function of mutations in the CCM2 gene.[journal.frontiersin.org] SHOC2, SOS1, SPRED1) Pan140 Sindrome di Noonan, LEOPARD, Costello e CFC, esteso (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2[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]

  • Hirschsprung's Disease

    Of the upregulated genes, 118 were involved in classic signaling pathways, compared with 11 of the downregulated genes (P 2‑fold).[ncbi.nlm.nih.gov] SHOC2, SOS1, SPRED1) Pan140 Sindrome di Noonan, LEOPARD, Costello e CFC, esteso (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2[bredagenetics.com] […] syndrome involving developmental genes necessary for the normal growth of the neural crest derivatives of the eye, inner ear, and colon.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Progressive External Ophthalmoplegia

    In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes.[books.google.de] SHOC2, SOS1, SPRED1) Pan140 Sindrome di Noonan, LEOPARD, Costello e CFC, esteso (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2[bredagenetics.com] Two novel RRM2B gene mutations in a patient with autosomal recessive progressive external ophthalmoplegia, encephalopathy and cytochrome c oxidase deficiency. N. S.[ashg.org]

  • Autosomal Dominant Spastic Paraplegia 33

    An alternative explanation for the negative finding of our study may consider the SLC33A1 gene to not be the true disease gene for the SPG42 HSP subtype.[nature.com] SHOC2, SOS1, SPRED1) Pan140 Sindrome di Noonan, LEOPARD, Costello e CFC, esteso (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2[bredagenetics.com] A mutation in the gene for an acetyl-CoA transporter (SLC33A1) has recently been reported in one Chinese family to cause ADHSP-type SPG42.[ncbi.nlm.nih.gov]

  • Juvenile Myelomonocytic Leukemia

    In contrast, the differential gene expression of hematopoiesis-related genes could not be supported by functional data.[ncbi.nlm.nih.gov] Several congenital syndromes predispose to JMML, including neurofibromatosis type 1 (NF1) and CBL syndrome. 1 Genetic mutations in NF1 , NRAS , KRAS , RRAS , RRAS2 , PTPN11[hematology.org] Hyperactivation of the Ras pathway from gene mutations is known to be the key culprit in the development of JMML.[ncbi.nlm.nih.gov]

  • TK2-Related Myopathic Mitochondrial DNA Depletion Syndrome

    Test Description Order Options: Sequencing Del/Dup Rush / STAT Exclude VUS MCC Duo/Trio Turnaround Time: 3 - 5 weeks Cost: Call for details Genes: TK2 ( 1 gene ) Coverage:[fulgentgenetics.com] SHOC2, SOS1, SPRED1) Pan140 Sindrome di Noonan, LEOPARD, Costello e CFC, esteso (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2[bredagenetics.com] In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes.[books.google.com]

  • Autosomal Recessive Spastic Paraplegia Type 46

    4 58 Cytochrome P450 2U1 3 P450TEC 3 SPG49 3 SPG56 3 External Ids for CYP2U1 Gene Previous GeneCards Identifiers for CYP2U1 Gene GC04P109309 GC04P109210 GC04P109072 GC04P108852[genecards.org] SHOC2, SOS1, SPRED1) Pan140 Sindrome di Noonan, LEOPARD, Costello e CFC, esteso (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2[bredagenetics.com] 3, yeast)-like 2 AFG3 ATPase family gene 3-like 2 (S. cerevisiae) AFG3 ATPase family gene 3-like 2 (yeast) AFG3 ATPase family member 3-like 2 (S. cerevisiae) AFG3-like AAA[ukgtn.nhs.uk]

  • Autosomal Recessive Spastic Paraplegia Type 26

    ENSEMBL: Gene Tree for ZFYVE26 (if available) TreeFam: Gene Tree for ZFYVE26 (if available) Paralogs for ZFYVE26 Gene SNP ID Clin Chr 14 pos Sequence Context AA Info Type[genecards.org] SHOC2, SOS1, SPRED1) Pan140 Sindrome di Noonan, LEOPARD, Costello e CFC, esteso (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2[bredagenetics.com] […] atlastin GTPase 1 alastin-1 atlastin spastic paraplegia 3a (autosomal dominant) spg3a gene ATL1 AD-FSP ATL-1 FSP1 SPG3 606439 11231 BSCL2, seipin lipid droplet biogenesis[ukgtn.nhs.uk]

  • Autosomal Recessive Spastic Paraplegia Type 56

    4 58 Cytochrome P450 2U1 3 P450TEC 3 SPG49 3 SPG56 3 External Ids for CYP2U1 Gene Previous GeneCards Identifiers for CYP2U1 Gene GC04P109309 GC04P109210 GC04P109072 GC04P108852[genecards.org] SHOC2, SOS1, SPRED1) Pan140 Sindrome di Noonan, LEOPARD, Costello e CFC, esteso (A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS2[bredagenetics.com] This is surprising as none of the other 72 genes for HSP are ion channel genes.[epilepsygenetics.net]

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