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: C4025878
Disease: Tongue telangiectasia
Tongue telangiectasia 		disease Anatomical Abnormality 2 0.100 None 0
CUI: C0002418
Disease: Amblyopia
Amblyopia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 85 29 0.100 None 0
CUI: C0010520
Disease: Cyanosis
Cyanosis 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 54 2 0.100 None 0
CUI: C0013404
Disease: Dyspnea
Dyspnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 222 26 0.100 None 0
CUI: C0018932
Disease: Hematochezia
Hematochezia 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 37 12 0.100 None 0
CUI: C0009080
Disease: Clubbed Fingers
Clubbed Fingers 		disease Musculoskeletal Diseases Anatomical Abnormality 88 1 0.100 None 0
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 122 78 0.100 None 0
CUI: C0025222
Disease: Melena
Melena 		phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Pathologic Function 15 1 0.100 None 0
CUI: C3275758
Disease: Choriocapillaris atrophy
Choriocapillaris atrophy 		phenotype Finding 5 0.100 None 0
CUI: C0014867
Disease: Esophageal Varices
Esophageal Varices 		disease Digestive System Diseases Disease or Syndrome 56 5 0.100 None 0
CUI: C0334121
Disease: Inflammatory Myofibroblastic Tumor
Inflammatory Myofibroblastic Tumor 		disease Pathological Conditions, Signs and Symptoms Neoplastic Process 92 2 0.090 None 1.000 9 2001 2018
CUI: C0152171
Disease: Idiopathic pulmonary hypertension
Idiopathic pulmonary hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 161 5 0.070 None 1.000 7 2001 2012
CUI: C1332942
Disease: Childhood Anaplastic Large Cell Lymphoma
Childhood Anaplastic Large Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 130 2 0.060 None 0.833 6 1997 2019
CUI: C1332182
Disease: Adult Anaplastic Large Cell Lymphoma
Adult Anaplastic Large Cell Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 128 2 0.060 None 0.833 6 1997 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.050 None 1.000 5 2003 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.040 None 1.000 4 2003 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.040 None 1.000 4 2002 2018
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.040 None 1.000 4 2013 2019
CUI: C0158570
Disease: Vascular anomaly
Vascular anomaly 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 47 5 0.040 None 1.000 4 2006 2019
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		disease Musculoskeletal Diseases Disease or Syndrome 1827 247 0.030 None 1.000 3 2009 2013
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.030 None 1.000 3 2010 2012
CUI: C0018801
Disease: Heart failure
Heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1499 201 0.030 None 1.000 3 2017 2018
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		group Cardiovascular Diseases Disease or Syndrome 688 40 0.030 None 1.000 3 1997 2013
CUI: C0024299
Disease: Lymphoma
Lymphoma 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.030 None 1.000 3 1999 2011
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process 48 138 0.030 None 1.000 3 2006 2013