EC Number |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
---|
2.7.1.17 | Abetalipoproteinemia |
10891471 |
Expression of Kell blood group protein in nonerythroid tissues. |
causal interaction diagnostic usage unassigned |
1 3 0 |
2.7.1.17 | Abetalipoproteinemia |
12823753 |
McLeod phenotype associated with a XK missense mutation without hematologic, neuromuscular, or cerebral involvement. |
unassigned |
0 |
2.7.1.17 | Abetalipoproteinemia |
17189525 |
Expression profiles of mouse Kell, XK, and XPLAC mRNA. |
causal interaction unassigned |
3 0 |
2.7.1.17 | Abetalipoproteinemia |
17300882 |
Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases. |
causal interaction diagnostic usage unassigned |
4 3 0 |
2.7.1.17 | Abetalipoproteinemia |
24529944 |
Novel single base-pair deletion in exon 1 of XK gene leading to McLeod syndrome with chorea, muscle wasting, peripheral neuropathy, acanthocytosis and haemolysis. |
diagnostic usage ongoing research unassigned |
3 1 0 |
2.7.1.17 | Abetalipoproteinemia |
25934153 |
Neurodegeneration in the elderly - When the blood type matters: An overview of the McLeod syndrome with focus on hematological features. |
causal interaction diagnostic usage therapeutic application unassigned |
3 4 2 0 |
2.7.1.17 | Anencephaly |
2817005 |
XK aprosencephaly may be a new mutation or a dominant genetic defect. |
therapeutic application unassigned |
3 0 |
2.7.1.17 | Anencephaly |
3287923 |
XK aprosencephaly and anencephaly in sibs. |
causal interaction unassigned |
2 0 |
2.7.1.17 | Anencephaly |
7081301 |
A review and case report of aprosencephaly and the XK aprosencephaly syndrome. |
causal interaction unassigned |
2 0 |
2.7.1.17 | Anencephaly |
9571288 |
XK aprosencephaly. |
causal interaction unassigned |
3 0 |