F2R, coagulation factor II thrombin receptor, 2149

N. diseases: 347; N. variants: 10
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: C2937288
Disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT 		disease Endocrine System Diseases Disease or Syndrome 4 40 0.010 None 1.000 1 1993 1993
CUI: C3489796
Disease: Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Thyroid Hormone Resistance, Generalized, Autosomal Recessive 		disease Endocrine System Diseases Disease or Syndrome 4 3 0.010 None 1.000 1 1993 1993
CUI: C4048158
Disease: Convulsions
Convulsions 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 174 4 0.010 None 1.000 1 1996 1996
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 0.020 None 1.000 2 1996 1997
CUI: C1802398
Disease: Chromosome 5, trisomy 5q
Chromosome 5, trisomy 5q 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 42 1 0.020 None 1.000 2 1996 1997
CUI: C0740302
Disease: 5q-syndrome
5q-syndrome 		disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 45 1 0.020 None 1.000 2 1996 1997
CUI: C1292779
Disease: Myelodysplastic Syndrome with Isolated del(5q)
Myelodysplastic Syndrome with Isolated del(5q) 		disease Hemic and Lymphatic Diseases Neoplastic Process 41 1 0.020 None 1.000 2 1996 1997
CUI: C0002893
Disease: Refractory anemias
Refractory anemias 		disease Hemic and Lymphatic Diseases Disease or Syndrome 340 11 0.020 None 1.000 2 1996 1997
CUI: C0007140
Disease: Carcinosarcoma
Carcinosarcoma 		disease Neoplasms Neoplastic Process 94 6 0.010 None 1.000 1 1997 1997
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		disease Nutritional and Metabolic Diseases Disease or Syndrome 420 42 0.010 None 1.000 1 1998 1998
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy 		disease Disease or Syndrome 138 21 0.010 None 1.000 1 2000 2000
CUI: C0345964
Disease: Adenoma of lung
Adenoma of lung 		disease Neoplasms Neoplastic Process 30 3 0.010 None 1.000 1 2000 2000
CUI: C0403416
Disease: Idiopathic crescentic glomerulonephritis
Idiopathic crescentic glomerulonephritis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 80 0.010 None 1.000 1 2000 2000
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 185 8 0.040 None 0.750 4 1996 2001
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 2001 2001
CUI: C0027121
Disease: Myositis
Myositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 254 43 0.010 None 1.000 1 2001 2001
CUI: C0010072
Disease: Coronary Thrombosis
Coronary Thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 35 2 0.010 None 1.000 1 2001 2001
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		disease Skin and Connective Tissue Diseases Disease or Syndrome 979 287 0.010 None 1.000 1 2001 2001
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 70 59 0.010 None 1.000 1 2002 2002
CUI: C0432475
Disease: XX males
XX males 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 32 0.010 None 1.000 1 2003 2003
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		group Digestive System Diseases; Neoplasms Neoplastic Process 947 45 0.010 None 1.000 1 2003 2003
CUI: C1519670
Disease: Tumor Angiogenesis
Tumor Angiogenesis 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 822 5 0.010 None 1.000 1 2003 2003
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 17 33 0.010 None 1.000 1 2003 2003
CUI: C0014038
Disease: Encephalitis
Encephalitis 		disease Nervous System Diseases Disease or Syndrome 324 18 0.010 None 1.000 1 2003 2003
CUI: C0206698
Disease: Cholangiocarcinoma
Cholangiocarcinoma 		disease Neoplasms Neoplastic Process 877 43 0.010 None < 0.001 1 2003 2003