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Results 1 - 10 of 32 for "X-linked" disease
  1. SH2D1A gene 
    ... gene mutations have been identified in people with X-linked lymphoproliferative disease (XLP). Some SH2D1A gene mutations impair SAP function. ... Yeo WC, Rothman J, Koretzky GA, Nichols KE. X-linked lymphoproliferative disease (XLP): a model of impaired anti-viral, anti- ...
    https://medlineplus.gov/genetics/gene/sh2d1a - Genetics
  2. XIAP gene 
    ... mutations have been identified in some people with X-linked lymphoproliferative disease (XLP). These mutations reduce or eliminate production of ... X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010 Aug 19;116(7):1079-82. ...
    https://medlineplus.gov/genetics/gene/xiap - Genetics
  3. GJB1 gene 
    ... Gene ClinVar Abrams CK, Freidin M. GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous ... Scherer SS. How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease? Brain Res. 2012 Dec 3;1487:198-205. ...
    https://medlineplus.gov/genetics/gene/gjb1 - Genetics
  4. IKBKG gene 
    ... for some cases of a condition known as X-linked susceptibility to mycobacterial disease. People with this condition have an increased risk ... life-threatening. The IKBKG gene variants associated with X-linked susceptibility to mycobacterial disease alter the structure of the IKBKG protein. The ...
    https://medlineplus.gov/genetics/gene/ikbkg - Genetics
  5. CACNA1F gene 
    ... that impair vision. These include Åland Island eye disease, X-linked cone-rod dystrophy, an X-linked retinal disorder ... DEPENDENT, ALPHA-1F SUBUNIT; CACNA1F CONE-ROD DYSTROPHY, X-LINKED, 3; CORDX3 ALAND ISLAND EYE DISEASE; AIED NCBI Gene ClinVar Bech-Hansen NT, Naylor ...
    https://medlineplus.gov/genetics/gene/cacna1f - Genetics
  6. L1CAM gene 
    ... S, Gartner J. Genetic and clinical aspects of X-linked hydrocephalus (L1 disease): Mutations in the L1CAM gene. Hum Mutat. 2001; ...
    https://medlineplus.gov/genetics/gene/l1cam - Genetics
  7. CYBB gene 
    ... CT, Wolach B, Gallin JI. Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol Dis. 2010 Oct ...
    https://medlineplus.gov/genetics/gene/cybb - Genetics
  8. TAF1 gene 
    ... related to the movement abnormalities characteristic of the disease.X-linked dystonia-parkinsonism may also be related to an ...
    https://medlineplus.gov/genetics/gene/taf1 - Genetics
  9. CLCN5 gene 
    ... human kidney chloride channel gene implicated in Dent disease (an X-linked hereditary nephrolithiasis). Genomics. 1995 Oct 10;29(3):598-606. doi: 10.1006/geno.1995.9960. Citation on PubMed ... for three inherited kidney stone diseases. Nature. 1996 Feb 1;379(6564):445-9. ...
    https://medlineplus.gov/genetics/gene/clcn5 - Genetics
  10. LAMP2 gene 
    ... S, Hirano M. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature. 2000 Aug 24;406(6798):906-10. ...
    https://medlineplus.gov/genetics/gene/lamp2 - Genetics
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