ACVRL1, activin A receptor like type 1, 94

N. diseases: 224; N. variants: 114
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: C0398635
Disease: Thromboxane synthetase deficiency
Thromboxane synthetase deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 2 2 0.010 None 1.000 1 1981 1981
CUI: C0026948
Disease: Mycosis Fungoides
Mycosis Fungoides 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 251 8 0.010 None < 0.001 1 1998 1998
CUI: C1302772
Disease: Primary cutaneous lymphoma
Primary cutaneous lymphoma 		disease Neoplasms; Skin and Connective Tissue Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 19 0.010 None 1.000 1 1998 1998
CUI: C1276146
Disease: Cutaneous lymphoma
Cutaneous lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 36 3 0.010 None 1.000 1 1998 1998
CUI: C3809715
Disease: Spontaneous, recurrent epistaxis
Spontaneous, recurrent epistaxis 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Sign or Symptom 11 1 0.110 None 1.000 1 1999 1999
CUI: C0265333
Disease: Tricho-dento-osseous syndrome (disorder)
Tricho-dento-osseous syndrome (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 8 5 0.010 None 1.000 1 1999 1999
CUI: C0079772
Disease: T-Cell Lymphoma
T-Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 485 24 0.010 None 1.000 1 2000 2000
CUI: C0340542
Disease: Sporadic primary pulmonary hypertension
Sporadic primary pulmonary hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 4 0.010 None < 0.001 1 2001 2001
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 517 12 0.010 None 1.000 1 2002 2002
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		disease Neoplasms; Nervous System Diseases Neoplastic Process 261 19 0.010 None 1.000 1 2002 2002
CUI: C0037579
Disease: Soft Tissue Neoplasms
Soft Tissue Neoplasms 		group Neoplasms Neoplastic Process 145 0.010 None 1.000 1 2002 2002
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 565 20 0.010 None 1.000 1 2002 2002
CUI: C0278607
Disease: Adult Leiomyosarcoma
Adult Leiomyosarcoma 		disease Neoplasms Neoplastic Process 141 1 0.010 None 1.000 1 2002 2002
CUI: C0278622
Disease: Adult Malignant Peripheral Nerve Sheath Tumor
Adult Malignant Peripheral Nerve Sheath Tumor 		disease Neoplasms; Nervous System Diseases Neoplastic Process 62 2 0.010 None 1.000 1 2002 2002
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma 		disease Neoplasms Neoplastic Process 509 12 0.010 None 1.000 1 2002 2002
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma 		disease Neoplasms Neoplastic Process 140 1 0.010 None 1.000 1 2002 2002
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
Malignant Fibrous Histiocytoma 		disease Neoplasms Neoplastic Process 150 3 0.010 None 1.000 1 2002 2002
CUI: C0279987
Disease: Childhood Malignant Peripheral Nerve Sheath Tumor
Childhood Malignant Peripheral Nerve Sheath Tumor 		disease Neoplasms; Nervous System Diseases Neoplastic Process 62 2 0.010 None 1.000 1 2002 2002
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		disease Neoplasms Neoplastic Process 213 5 0.010 None 1.000 1 2002 2002
CUI: C2919945
Disease: Cavernous Hemangioma of Brain
Cavernous Hemangioma of Brain 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality 127 43 0.010 None 1.000 1 2002 2002
CUI: C0155675
Disease: Pulmonary Arteriovenous Fistulas
Pulmonary Arteriovenous Fistulas 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 5 0.400 strong 1.000 1 2003 2003
CUI: C1857690
Disease: Pulmonary arteriovenous malformation
Pulmonary arteriovenous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 4 1 0.400 strong 1.000 1 2003 2003
CUI: C0014591
Disease: Epistaxis
Epistaxis 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function 82 4 0.400 strong 1.000 1 1 2003 2003
CUI: C0241790
Disease: Congenital pulmonary arteriovenous malformation
Congenital pulmonary arteriovenous malformation 		disease Respiratory Tract Diseases Congenital Abnormality 4 0.400 strong 1.000 1 2003 2003
CUI: C0520557
Disease: Arteriovenous malformation of liver
Arteriovenous malformation of liver 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 2 0.400 strong 1.000 1 2003 2003