Disease Information |
Disease Name |
Gene Name |
Type |
UMLS |
Association Type |
Score |
Source |
Autosomal dominant or sporadic congenital neutropenia |
HAX1 |
disease |
C0340970 |
Biomarker |
0.6 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
HAX1 |
disease |
C0340970 |
GeneticVariation |
0.6 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
VPS45 |
disease |
C0340970 |
Biomarker |
0.54 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
VPS45 |
disease |
C0340970 |
GeneticVariation |
0.54 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
ELANE |
disease |
C0340970 |
GeneticVariation |
0.5 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
ELANE |
disease |
C0340970 |
AlteredExpression |
0.5 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
ELANE |
disease |
C0340970 |
Biomarker |
0.5 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
G6PC3 |
disease |
C0340970 |
Biomarker |
0.4 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
G6PC3 |
disease |
C0340970 |
GeneticVariation |
0.4 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CSF3R |
disease |
C0340970 |
GeneticVariation |
0.4 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CSF3R |
disease |
C0340970 |
AlteredExpression |
0.4 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CSF3R |
disease |
C0340970 |
Biomarker |
0.4 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
GFI1 |
disease |
C0340970 |
Biomarker |
0.37 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
GFI1 |
disease |
C0340970 |
GeneticVariation |
0.37 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
JAGN1 |
disease |
C0340970 |
GeneticVariation |
0.35 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
JAGN1 |
disease |
C0340970 |
Biomarker |
0.35 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
GATA2 |
disease |
C0340970 |
GeneticVariation |
0.33 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
GATA2 |
disease |
C0340970 |
Biomarker |
0.33 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
WAS |
disease |
C0340970 |
GeneticVariation |
0.32 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
LAMTOR2 |
disease |
C0340970 |
GeneticVariation |
0.32 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
LAMTOR2 |
disease |
C0340970 |
Biomarker |
0.32 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
WAS |
disease |
C0340970 |
Biomarker |
0.32 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
WAS |
disease |
C0340970 |
AlteredExpression |
0.32 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CXCR4 |
disease |
C0340970 |
Biomarker |
0.3 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
RMRP |
disease |
C0340970 |
Biomarker |
0.3 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
TCIRG1 |
disease |
C0340970 |
CausalMutation |
0.12 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
TCIRG1 |
disease |
C0340970 |
GeneticVariation |
0.12 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
TCIRG1 |
disease |
C0340970 |
Biomarker |
0.12 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CSF3 |
disease |
C0340970 |
GeneticVariation |
0.1 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CSF3 |
disease |
C0340970 |
AlteredExpression |
0.1 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CSF3 |
disease |
C0340970 |
Biomarker |
0.1 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
AK2 |
disease |
C0340970 |
Biomarker |
0.1 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CD34 |
disease |
C0340970 |
Biomarker |
0.06 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
LEF1 |
disease |
C0340970 |
AlteredExpression |
0.05 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
LEF1 |
disease |
C0340970 |
Biomarker |
0.05 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
LEF1 |
disease |
C0340970 |
GeneticVariation |
0.05 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
G6PC |
disease |
C0340970 |
Biomarker |
0.04 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
G6PC |
disease |
C0340970 |
AlteredExpression |
0.04 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
G6PC |
disease |
C0340970 |
GeneticVariation |
0.04 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
STAT5B |
disease |
C0340970 |
AlteredExpression |
0.03 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CSF1R |
disease |
C0340970 |
GeneticVariation |
0.03 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
STAT5B |
disease |
C0340970 |
Biomarker |
0.03 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CSF1R |
disease |
C0340970 |
Biomarker |
0.03 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
STAT5A |
disease |
C0340970 |
AlteredExpression |
0.03 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CSF1R |
disease |
C0340970 |
AlteredExpression |
0.03 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
STAT5A |
disease |
C0340970 |
Biomarker |
0.03 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
AKT1 |
disease |
C0340970 |
Biomarker |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CAMP |
disease |
C0340970 |
Biomarker |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
RPP14 |
disease |
C0340970 |
GeneticVariation |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
S100A9 |
disease |
C0340970 |
Biomarker |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
RPP14 |
disease |
C0340970 |
Biomarker |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
H3P8 |
disease |
C0340970 |
GeneticVariation |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
SF3B6 |
disease |
C0340970 |
Biomarker |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
S100A9 |
disease |
C0340970 |
GeneticVariation |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CAMP |
disease |
C0340970 |
AlteredExpression |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
SRI |
disease |
C0340970 |
Biomarker |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
SF3B6 |
disease |
C0340970 |
GeneticVariation |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CDKN2A |
disease |
C0340970 |
GeneticVariation |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
AKT1 |
disease |
C0340970 |
AlteredExpression |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
SUB1 |
disease |
C0340970 |
GeneticVariation |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CDKN2A |
disease |
C0340970 |
Biomarker |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
RPS19 |
disease |
C0340970 |
Biomarker |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
H3P8 |
disease |
C0340970 |
Biomarker |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CSF2 |
disease |
C0340970 |
GeneticVariation |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
SUB1 |
disease |
C0340970 |
Biomarker |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CSF2 |
disease |
C0340970 |
AlteredExpression |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CDK2AP2 |
disease |
C0340970 |
GeneticVariation |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CDK2AP2 |
disease |
C0340970 |
Biomarker |
0.02 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
LTF |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
IL1A |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
HUWE1 |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
LCN2 |
disease |
C0340970 |
AlteredExpression |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
HCLS1 |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
RUNX1T1 |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
BCL2 |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
KIT |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
KAT6A |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CXCR2 |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
RUNX1 |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
IL1B |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
PTPN11 |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
SLPI |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
TP53 |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
RAC2 |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CTNNB1 |
disease |
C0340970 |
AlteredExpression |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
ARHGDIB |
disease |
C0340970 |
PosttranslationalModification |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
ATP2A2 |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
IL3 |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
ARHGDIA |
disease |
C0340970 |
PosttranslationalModification |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CLPB |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
SLC37A4 |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
HOXB8 |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CD33 |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CHD2 |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
PTPN6 |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CEBPB |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
NAMPT |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
DECR1 |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
NR0B2 |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
SCN1A |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
WNT3A |
disease |
C0340970 |
AlteredExpression |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
VPS13B |
disease |
C0340970 |
Biomarker |
0.01 |
disgenet |
Autosomal dominant or sporadic congenital neutropenia |
CD40LG |
disease |
C0340970 |
GeneticVariation |
0.01 |
disgenet |
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