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27 Possible Causes for YWHAH, gene

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  • Amegakaryocytic Thrombocytopenia

    Because the c-mpl gene was considered as one of the candidate genes for this disorder, we analyzed the genomic sequence of the c-mpl gene of a 10-year-old Japanese girl with[ncbi.nlm.nih.gov] TLX3, UBE2D3, TNKS, TPTE2, ZCCHC7, ZC3H12A, YWHAQ, WNT8A, TLR6, YWHAZ, ZNF639, WNT3A, ZBTB5, TLK1, ZNF521, TIE1, ZNF217, ZBTB7B, ZNF704, YY1, YES1, XPO1, XIRP2, ZBTB33, YWHAH[mendelian.co] In this report, we describe the mutations in the c-mpl gene that caused CAMT.[doi.org]

  • 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] TLX3, UBE2D3, TNKS, TPTE2, ZCCHC7, ZC3H12A, YWHAQ, WNT8A, TLR6, YWHAZ, ZNF639, WNT3A, ZBTB5, TLK1, ZNF521, TIE1, ZNF217, ZBTB7B, ZNF704, YY1, YES1, XPO1, XIRP2, ZBTB33, YWHAH[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]

  • Multiple Self-Healing Squamous Epithelioma

    Although no mutation has been detected in MSSE families, PTCH has not been excluded as the MSSE gene.[ncbi.nlm.nih.gov] TLX3, UBE2D3, TNKS, TPTE2, ZCCHC7, ZC3H12A, YWHAQ, WNT8A, TLR6, YWHAZ, ZNF639, WNT3A, ZBTB5, TLK1, ZNF521, TIE1, ZNF217, ZBTB7B, ZNF704, YY1, YES1, XPO1, XIRP2, ZBTB33, YWHAH[mendelian.co] Squamous cell carcinomata also develop as one of the complications of xeroderma pigmentosum , and one of the xeroderma pigmentosum genes (XPA) maps within the MSSE interval[curehunter.com]

  • Pseudohypoparathyroidism

    CONCLUSION: This report demonstrates the first evidence for a pathogenic mutation in exon 3 of the GNAS gene.[ncbi.nlm.nih.gov] TLX3, UBE2D3, TNKS, TPTE2, ZCCHC7, ZC3H12A, YWHAQ, WNT8A, TLR6, YWHAZ, ZNF639, WNT3A, ZBTB5, TLK1, ZNF521, TIE1, ZNF217, ZBTB7B, ZNF704, YY1, YES1, XPO1, XIRP2, ZBTB33, YWHAH[mendelian.co] It is caused by heterozygous mutations in GNAS gene.[ncbi.nlm.nih.gov]

  • X-Linked Intellectual Disability due to GRIA3 Anomalies

    From NCBI Gene : Glutamate receptors are the predominant excitatory neurotransmitter receptors in the mammalian brain and are activated in a variety of normal neurophysiologic[ghr.nlm.nih.gov] PI3K-Akt signaling pathway 1.13   10 3 4.19   10 3 AKT1, ATF6B, EGF, EGFR, FGF1, FGF14, FGF18, FGFR1, FN1, GNB3, GSK3B, IL2, IL3, IL3RA, IL4, PPP2R2B, RELN, TNXB, TP53, YWHAE, YWHAH[nature.com] Gene view The gene view histogram is a graphical view of mutations across GRIA3.[cancer.sanger.ac.uk]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    The gene symbol is from the HUGO Gene Nomenclature Committee (HGNC) database.[dna.universeofatoms.com] YWHAH G:113508 . . YWHAQ G:609009 . . YWHAZ G:601288 . . YY1 G:600013 . . YY1AP1 G:607860 . . YY2 G:300570 . . ZACN G:610935 . . ZAN G:602372 . . ZAP70 GP:176947 . .[usegalaxy.org] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Combined Oxidative Phosphorylation Deficiency Type 24

    Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] YWHAH G:113508 . . YWHAQ G:609009 . . YWHAZ G:601288 . . YY1 G:600013 . . YY1AP1 G:607860 . . YY2 G:300570 . . ZACN G:610935 . . ZAN G:602372 . . ZAP70 GP:176947 . .[usegalaxy.org] A-B: Genetic Testing by Individual Gene Gene Protein Associated Disease(s) AARS2 Alanyl-tRNA Synthetase 2, Mitochondrial Familial Hypertrophic Cardiomyopathy (HCM) ABCA1 ATP-Binding[bcm.edu]

  • Early Infantile Epileptic Encephalopathy 26

    This gene encodes a member of the potassium channel, voltage-gated, shab-related subfamily.[ghr.nlm.nih.gov] […] phenotypes (RAF1, YWHAQ) 3.228 4.12e-7 5.22e-6 All phenotypes (RAF1, YWHAE) 3.177 5.39e-7 5.22e-6 All phenotypes (RAF1, YWHAB) 3.081 8.97e-7 5.22e-6 All phenotypes (RAF1, YWHAH[dsysmap.irbbarcelona.org] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Glycogen Storage Disease due to Phosphoglycerate Kinase 1 Deficiency

    Below are the genes sequenced in this screen and the targeted disease(s) associated with each of these genes.[genepeeks.com] PROGRESSIVE, DUCHENNE AND BECKER TYPES; DMD *142370 HEMOPOIETIC CELL KINASE; HCK *113508 TYROSINE 3-MONOOXYGENASE/TRYPTOPHAN 5-MONOOXYGENASE ACTIVATION PROTEIN, ETA POLYPEPTIDE; YWHAH[www0.nih.go.jp] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org]

  • Pseudopseudohypoparathyroidism

    Abstract We determined the chromosomal location of the mouse gene Stk25, encoding a member of the Ste20/PAK family of serine/threonine kinases, by interspecific backcross[ncbi.nlm.nih.gov] TLX3, UBE2D3, TNKS, TPTE2, ZCCHC7, ZC3H12A, YWHAQ, WNT8A, TLR6, YWHAZ, ZNF639, WNT3A, ZBTB5, TLK1, ZNF521, TIE1, ZNF217, ZBTB7B, ZNF704, YY1, YES1, XPO1, XIRP2, ZBTB33, YWHAH[mendelian.co] Hayward B et al (2001) Imprinting of the G(s)alpha gene GNAS1 in the pathogenesis of acromegaly.[doi.org]

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