Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019045 (hemoglobinopathies)
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Human Gene/Protein
ARHGDIG 12.5
alpha-1 globin 12.2
OR51V1 11.9
ITFG3 11.9
HBG1 11.3
alpha-2 globin 11.2
ZNF410 11.2
FREM3 11.2
SSFA2 10.9
BCL11A 10.8
EIF2AK1 10.8
delta-globin chain 10.7
HBG2 10.6
USP38 10.5
HBA2 10.5
mutant beta-globin 10.4
LUC7L 10.4
HBB 10.3
beta globin chain 10.1
HBA1 10.1
KLF1 10.0
HBS1L 10.0
PDIA2 9.9
ZBTB7A 9.9
Beta-globin 9.9
gamma globin 9.9
NF-E4 9.8
SOX-6 9.7
dedicator of cytokinesis 2 9.7
gamma-globin chain 9.7
gamma-globin 9.7
Deoxyribonuclease II 9.6
FAM3D 9.6
HLRCC 9.4
Speckle-type POZ protein 9.4
delta-globin 9.3
heme-regulated inhibitor 9.3
HBE1 9.2
alpha globin 9.2
epsilon globin 9.2
T-cell acute lymphocytic leukemia 1 9.1
AMAC 9.1
EKLF 8.9
theta-1 8.8
beta-globin 8.7
SOX6 8.7
LDB1 8.7
beta globin 8.7
BPGM 8.6
hemoglobin beta 8.6
methemoglobin 8.5
transcription factor Nrf1 8.5
HBD 8.5
LRF 8.3
CSNK2A1 8.3
PDE7B 8.3
IL1RAP 8.3
delta globin 8.3
aaa 8.1
H14 8.0
rhesus D 8.0
HS2 8.0
SP8 7.9
SLC4A1 7.9
MAP3K5 7.9
KLF3 7.8
integrin alpha 2 7.8
PAX1 7.8
ZF2 7.7
RGS11 7.7
pseudoxanthoma elasticum 7.7
HS3 7.6
CHD4 7.6
LVV-hemorphin-7 7.6
hemoglobin 7.6
CHRFAM7A 7.6
FAC 7.6
mitochondrial intermediate peptidase 7.5
ccr5 7.5
PRES 7.4
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Disease
Hemoglobin SE disease 13.5
Alpha thalassemia minor 13.5
Acquired hemoglobinopathy 13.5
Other hemoglobinopathies 13.5
hemoglobinopathies 13.5
Heterozygous hemoglobinopathy 13.5
Sickle cell retinopathy 12.7
Alpha thalassemia trait 12.5
Hb-C disease 12.5
Homozygous hemoglobin E 12.5
Sickle cell thalassemia 12.2
Hb SC disease 11.6
Hemoglobin C trait 11.5
Hemoglobin E trait 11.5
Salmonella osteomyelitis 11.4
sickle thalassemia 11.4
substitution disorder 11.2
Peripheral retinal neovascularization 11.2
Dialysis-associated amyloidosis 10.9
thalassemia trait 10.8
Functional asplenia 10.8
Neonatal anemia 10.7
Alpha thalassemia major 10.7
hereditary persistence of fetal hemoglobin 10.5
ATMDS 10.4
thalassemia minor 10.3
HBB 10.3
HBB 10.3
HBB 10.3
beta thalassemia 10.3
alpha thalassemia 10.3
Bellini duct carcinoma 10.2
Splenic atrophy 10.2
Sickle cell trait 10.1
HPFH 10.1
thalassemia 10.1
Nutritional anemia 9.9
Acquired methemoglobinemia 9.9
Familial erythrocytosis 9.8
Anemia during pregnancy 9.8
Hemorrhagic disease of the newborn 9.7
Sickle cell nephropathy 9.7
Blackwater fever 9.7
Thalassemia intermedia 9.7
sickle cell disease 9.7
Microcytic hypochromic anemia 9.5
Free plasma hemoglobin 9.5
epiphysitis 9.4
thalassemia major 9.3
acute chest syndrome 9.2
hereditary anemia 9.1
congenital hemolytic anemia 9.1
microcytic anemia 9.0
Plasmodium malariae infection 8.9
pyruvate kinase deficiency 8.9
Mycobacterium fortuitum infection 8.9
sickle cell crisis 8.8
hypochromic anemia 8.8
angioid streaks 8.8
Hereditary Leiomyomatosis and Renal Cell Cancer 8.7
hereditary nonspherocytic hemolytic anemia 8.6
Uric acid nephrolithiasis 8.6
hyposplenism 8.5
HBD 8.5
sulfhemoglobinemia 8.4
splenic infarction 8.3
G6PD deficiency 8.3
blood disorder 8.3
carboxyhemoglobinemia 8.2
renal papillary necrosis 8.2
Eales' disease 8.1
HS3 8.1
AD4 8.1
Bury 8.1
fibroblastic osteosarcoma 8.1
dyserythropoietic anemia 8.0
Chronic anemia 8.0
hematological abnormality 8.0
bejel 8.0
Hydrops fetalis 8.0
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Symptom
Neonatal cyanosis 10.9
Penile pain 10.2
Reticulocytosis 8.9
Roth spots 8.3
peau d'orange 7.0
left upper quadrant pain 6.5
cyanosis 5.8
splenomegaly 5.8
periorbital edema 5.5
lassitude 5.4
Tenderness 5.0
hepatosplenomegaly 4.9
flank pain 4.7
pallor 4.5
lightheadedness 4.5
ankle pain 4.5
clumsiness 4.4
atypical chest pain 4.2
limb pain 4.1
chronic back pain 4.0
renal colic 3.9
clubbing 3.7
acute abdominal pain 3.6
bone pain 3.5
dental pain 3.3
muscle stiffness 3.3
shortness of breath 3.2
tonic-clonic seizure 3.2
acute pain 3.2
knee pain 3.1
bitter taste 3.1
exertional dyspnea 2.8
abdominal discomfort 2.8
hip pain 2.7
oliguria 2.7
fever of unknown origin 2.5
chorea 2.5
chills 2.5
facial pain 2.3
dysuria 2.3
chest pain 2.3
tachypnea 2.2
abdominal pain 2.2
hypercapnia 2.2
hepatomegaly 2.0
back pain 2.0
acute abdomen 1.9
ophthalmoplegia 1.8
epigastric pain 1.8
arthralgia 1.7
dysarthria 1.6
pain 1.6
hemiplegia 1.6
pelvic pain 1.5
collapse 1.5
weakness 1.5
hypothermia 1.4
erythema 1.4
dyspnea 1.3
dizziness 1.3
paresthesia 1.2
low back pain 1.2
ataxia 1.2
thinning 1.1
cough 1.0
hemoptysis 0.9
headache 0.9
myalgia 0.8
exhaustion 0.8
anesthesia 0.8
analgesia 0.7
spasm 0.7
regurgitation 0.5
fatigue 0.4
overweight 0.4
syncope 0.3
nausea and vomiting 0.3
constipation 0.2
Ill 0.1
seizures 0.0
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Drug
Dacogen 9.1
Benserazide 8.8
Sodium phenylbutyrate 8.7
Sodium propionate 8.6
Deferasirox 8.2
Azacytidine 8.0
Cellulose acetate 7.5
Fosamax 7.4
Isopaque 6.2
Tenofovir disoproxil fumarate 6.1
Vorinostat 6.1
Maraviroc 6.0
VCR 5.9
Ranibizumab 5.9
Fansidar 5.6
Fansidar 5.6
Desferal 5.5
Desferal 5.4
ID2 5.4
Epoetin alfa 5.3
Colombo 5.2
SMP 4.9
TAT 4.9
Dakar 4.8
Fludarabine 4.7
Prednisone 4.5
Bayer 4.5
Fluorescein 4.4
Viagra 4.3
Lenalidomide 4.2
MDS 4.0
Fluorescein 4.0
Campath 4.0
Campath 4.0
Heme 3.9
PMPA 3.9
AGG 3.9
Methylprednisolone 3.7
DDAVP 3.6
DDAVP 3.6
Salbutamol 3.5
Asn 3.5
Methylene blue 3.2
Lovastatin 3.1
TAC 2.9
Activin 2.8
PTC 2.8
G-CSF 2.7
FAD 2.7
TTC 2.7
EPI 2.5
NAG 2.4
ACT 2.4
G418 2.4
AZT 2.1
AZT 2.0
Kenyan 1.8
Leaf 1.7
ascorbate 1.6
Nephron 1.6
Portal 1.5
ROS 1.3
CTX 1.1
CTX 1.0
CAM 1.0
ROC 0.6
MAP 0.6
DNase I 0.5
ampicillin 0.5
lysine 0.5
vitamin E 0.4
Nephron 0.4
CTX 0.2
Asthma -0.1
IFN-gamma -0.3
Gel -0.3
NADH -0.9
Dial -1.4
CSF -1.4
Monit -1.6
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Enzyme
biotinidase 6.9
phosphoglyceromutase 5.9
GCA 5.7
PRPP synthetase 5.6
SOR 5.5
SNO 4.9
TAT 4.9
HCS 4.8
argininosuccinate lyase 4.8
glucose-6-phosphate dehydrogenase 4.8
PHD 4.8
prolidase 4.6
CDH 4.4
HDR 4.3
factor C 4.2
SMP 4.1
argininosuccinate synthetase 4.1
type III procollagen 4.1
methylenetetrahydrofolate reductase 4.1
methylenetetrahydrofolate reductase 4.0
acyl-CoA dehydrogenase 4.0
SOR 4.0
ornithine aminotransferase 4.0
arginase 3.7
histone demethylase 3.6
cytidine deaminase 3.6
ALA synthase 3.5
pyruvate kinase 3.5
phosphoglycerate kinase 3.4
fumarase 3.4
BMT 3.1
PGM 3.1
deoxyribonuclease 3.0
Mg2+-ATPase 3.0
deoxyribonuclease 2.9
aldehyde dehydrogenase 2.9
DNA methyltransferase 2.8
ceruloplasmin 2.8
adenosine deaminase 2.8
ornithine transcarbamylase 2.8
adenosine deaminase 2.8
AOR 2.7
endonuclease 2.3
CDR 2.2
PKG 2.2
peroxiredoxin 2.2
MDP 2.1
APC 1.8
DNase 1.6
phosphofructokinase 1.6
ERK 1.5
lactate dehydrogenase 1.5
xanthine oxidase 1.5
heme oxygenase 1.5
aspartate aminotransferase 1.4
aldehyde dehydrogenase 1.4
aldehyde dehydrogenase 1.4
aldehyde dehydrogenase 1.4
citrate synthase 1.4
transglutaminase 1.3
aldehyde dehydrogenase 1.2
hexokinase 1.2
NADPH oxidase 1.1
RNase 1.0
AST 1.0
NQO1 0.9
thromboplastin 0.8
carbonic anhydrase 0.7
succinate dehydrogenase 0.5
RNase 0.5
cdc2 0.5
thrombin 0.5
RNA polymerase 0.4
cytochrome oxidase 0.4
ACE 0.4
creatine kinase 0.3
glutathione reductase 0.3
proteasome 0.3
NADPH oxidase 0.2
trypsin 0.2
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Compound
S 35 10.5
HBB 10.3
Bistris 9.4
Bistris 9.4
Hemoglobin 9.2
BTT 8.9
Tributyrin 8.9
AMAC 8.8
Hydroxyurea 7.7
4-phenylbutanoic acid 7.4
Acetyl phosphate 7.4
MCH 7.2
Rofecoxib 7.0
LCR 6.9
CAA 6.7
Zinc protoporphyrin 6.6
Ferrous sulfate 6.5
DCIP 6.5
Benzidine 6.3
Benin 6.3
1,5-AG 6.1
Busulfan 6.1
Glucose 6-phosphate 6.0
Isopaque 6.0
IDA 5.9
Bantu 5.9
2-butoxyethanol 5.8
Hemin 5.8
Hemin 5.8
Hemin 5.8
Hemin 5.8
AAT 5.8
Lawson 5.8
2,3-diphosphoglycerate 5.7
TIF 5.7
Hemin 5.6
EBT 5.6
G11 5.6
DPG 5.6
Desferal 5.5
DAC 5.4
salicylamide 5.2
DFO 5.2
TDT 5.2
DHB 5.0
DPG 5.0
Carvacrol 5.0
DDC 4.8
DDC 4.8
Selectin 4.7
Hydroxychloroquine 4.6
pentanoic acid 4.6
pentanoic acid 4.6
Protoporphyrin IX 4.5
Sildenafil 4.5
Coenzyme A 4.5
butyric acid 4.5
Quinine 4.4
TAA 4.4
carbamyl phosphate 4.4
ACI 4.3
Alendronate 4.3
Belt 4.3
5-Aza-2'-deoxycytidine 4.3
OHB 4.3
pentanoic acid 4.3
CDH 4.2
GGG 4.2
NBS 4.1
HBA 4.1
Cap 4.1
iron 4.0
DCA 4.0
DCA 3.9
SSD 3.9
ISDN 3.9
Lea 3.9
butyric acid 3.9
Prednisone 3.9
CPB 3.8
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