Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Dysarthria
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Microcephaly
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Babinski Reflex
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Cogwheel Rigidity
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Spastic gait
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Short stature
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Delayed speech and language development
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Clumsiness - motor delay
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Weight decreased
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Motor delay
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Short Stature, CTCAE
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Malignant Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
Since there is no other available probe in this region, pCN2 should prove very useful in studying abnormalities of chromosome 9p in human malignancies.
|
1879830 |
1991 |
Long QT Syndrome
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
KVLQT1, the gene encoding the alpha-subunit of a cardiac potassium channel, is the most common cause of the dominant form of long-QT syndrome (LQT1-type), the Romano-Ward syndrome (RWS).
|
9386136 |
1997 |
Long QT Syndrome 1
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
KVLQT1, the gene encoding the alpha-subunit of a cardiac potassium channel, is the most common cause of the dominant form of long-QT syndrome (LQT1-type), the Romano-Ward syndrome (RWS).
|
9386136 |
1997 |
Long QT Syndrome 1
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the KVLQT1 gene, a cardiac potassium channel, generate two allelic diseases: the Romano-Ward syndrome, inherited as a dominant trait, and the Jervell and Lange-Nielsen syndrome, inherited as an autosomal recessive trait.
|
9641694 |
1998 |
Romano-Ward Syndrome
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the KVLQT1 gene, a cardiac potassium channel, generate two allelic diseases: the Romano-Ward syndrome, inherited as a dominant trait, and the Jervell and Lange-Nielsen syndrome, inherited as an autosomal recessive trait.
|
9641694 |
1998 |
Long QT Syndrome
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
An exercise stress test was performed in 23 patients with a pore region mutation and in 22 patients with a C-terminal end mutation of the cardiac potassium channel gene causing LQT1 type of long QT syndrome (KVLQT1 gene), as well as in 20 patients with mutations of the cardiac potassium channel gene causing LQT2 type of long QT syndrome (HERG gene) and in 33 healthy relatives.
|
10483966 |
1999 |
Long QT Syndrome
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
KCNE2 encodes MinK-related peptide 1 (MiRP1), a subunit of the cardiac potassium channel I(Kr) that has been associated previously with inherited LQTS.
|
10984545 |
2000 |
Long QT Syndrome
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the cardiac potassium channel HERG (KCNH2) cause chromosome 7-linked long QT syndrome (LQT2) characterized by a prolonged QT interval, recurrent syncope and sudden cardiac death.
|
11113008 |
2000 |
Congenital long QT syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.
|
14661677 |
2003 |
Torsades de Pointes
|
0.020 |
Biomarker
|
disease |
BEFREE |
Rare mutations in KCNH2 provide the pathogenic substrate for type 2 congenital long QT syndrome (LQTS), thus placing this cardiac potassium channel squarely in the intersection between congenital LQTS (the "Rosetta stone" of the heritable channelopathies) and acquired LQTS (drug-induced TdP).
|
16253929 |
2005 |
Congenital long QT syndrome
|
0.020 |
Biomarker
|
disease |
BEFREE |
Rare mutations in KCNH2 provide the pathogenic substrate for type 2 congenital long QT syndrome (LQTS), thus placing this cardiac potassium channel squarely in the intersection between congenital LQTS (the "Rosetta stone" of the heritable channelopathies) and acquired LQTS (drug-induced TdP).
|
16253929 |
2005 |
Channelopathies
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Rare mutations in KCNH2 provide the pathogenic substrate for type 2 congenital long QT syndrome (LQTS), thus placing this cardiac potassium channel squarely in the intersection between congenital LQTS (the "Rosetta stone" of the heritable channelopathies) and acquired LQTS (drug-induced TdP).
|
16253929 |
2005 |
Long QT Syndrome
|
0.050 |
GeneticVariation
|
disease |
BEFREE |
Type-1 long-QT syndrome (LQTS) is caused by loss-of-function mutations in the KCNQ1-encoded I(Ks) cardiac potassium channel.
|
17470695 |
2007 |