HAMP, hepcidin antimicrobial peptide, 57817

N. diseases: 377; N. variants: 15
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0022408
Disease: Arthropathy
Arthropathy 		group Musculoskeletal Diseases Disease or Syndrome 187 10 0.100 None 0
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Finding 523 30 0.100 None 0
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 512 509 0.100 None 0
CUI: C0009714
Disease: Hepatic Fibrosis, Congenital
Hepatic Fibrosis, Congenital 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 63 2 0.100 None 0
CUI: C4023047
Disease: Abnormality of endocrine pancreas physiology
Abnormality of endocrine pancreas physiology 		phenotype Pathologic Function 4 0.100 None 0
CUI: C0023380
Disease: Lethargy
Lethargy 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 160 6 0.100 None 0
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		disease Male Urogenital Diseases; Mental Disorders Disease or Syndrome 256 44 0.100 None 0
CUI: C4023583
Disease: Abnormality of iron homeostasis
Abnormality of iron homeostasis 		phenotype Finding 5 1 0.100 None 0
CUI: C0241013
Disease: Increased serum ferritin
Increased serum ferritin 		phenotype Finding 23 1 0.100 None 0
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 0
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 0
CUI: C4022892
Disease: Elevated transferrin saturation
Elevated transferrin saturation 		phenotype Finding 3 0.100 None 0
CUI: C0151900
Disease: Serum iron raised
Serum iron raised 		phenotype Nutritional and Metabolic Diseases Finding 10 0.100 None 0
CUI: C4024878
Disease: Generalized hyperpigmentation
Generalized hyperpigmentation 		phenotype Skin and Connective Tissue Diseases Finding 42 0.100 None 0
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0
CUI: C0282193
Disease: Iron Overload
Iron Overload 		disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.600 None 0.973 186 2 2002 2020
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.700 None 0.966 147 2002 2020
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 93 45 0.400 None 0.966 87 2002 2019
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 254 56 0.400 None 0.958 71 2 2002 2019
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 83 62 0.200 None 0.970 66 1 2002 2019
CUI: C0002873
Disease: Anemia of chronic disease
Anemia of chronic disease 		phenotype Hemic and Lymphatic Diseases Disease or Syndrome 100 1 0.100 None 1.000 28 2002 2019
CUI: C0001430
Disease: Adenoma
Adenoma 		group Neoplasms Neoplastic Process 1183 103 0.020 None 1.000 2 2002 2019
CUI: C2981142
Disease: Refractory anemia, without ringed sideroblasts, without excess blasts
Refractory anemia, without ringed sideroblasts, without excess blasts 		disease Hemic and Lymphatic Diseases Disease or Syndrome 38 2 0.010 None 1.000 1 2002 2002
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		disease Hemic and Lymphatic Diseases Disease or Syndrome 340 11 0.010 None 1.000 1 2002 2002
CUI: C0268060
Disease: Juvenile hemochromatosis
Juvenile hemochromatosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 18 8 0.100 None 1.000 24 2 2003 2015