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.
Familial pulmonary arterial hypertension
disease Disease or Syndrome 12 1 0.300 None 1.000 5 2012 2014
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
phenotype Laboratory Procedure 681 1322 0.100 None 1.000 2 1 2016 2019
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure
phenotype Laboratory Procedure 139 296 0.100 None 1.000 1 1 2016 2016
CUI: C0278678
Disease: Metastatic Renal Cell Cancer
Metastatic Renal Cell Cancer
disease Neoplastic Process 145 9 0.010 None 1.000 1 2016 2016
CUI: C0750880
Disease: Monocyte count result
Monocyte count result
phenotype Laboratory or Test Result 139 296 0.100 None 1.000 1 1 2016 2016
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.010 None 1.000 1 2017 2017
2-oxo-hept-3-ene-1,7-dioate hydratase activity
phenotype Molecular Function 14 0.300 strong 1.000 1 2016 2016
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2013 2013
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis
disease Disease or Syndrome 297 3 0.010 None 1.000 1 2018 2018
CUI: C1658953
Disease: tumor vasculature
tumor vasculature
phenotype Neoplastic Process 200 0.010 None 1.000 1 2014 2014
CUI: C1855496
Disease: Contiguous gene syndrome
Contiguous gene syndrome
disease Disease or Syndrome 52 0.010 None 1.000 1 2019 2019
CUI: C2826323
Disease: Refractory Cytopenia of Childhood
Refractory Cytopenia of Childhood
disease Neoplastic Process 264 3 0.010 None 1.000 1 2019 2019
Tricuspid Valve Regurgitation Velocity
phenotype Sign or Symptom 9 0.010 None 1.000 1 2017 2017
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2018 2018
CUI: C4727069
Disease: Advanced Renal Cell Carcinoma
Advanced Renal Cell Carcinoma
disease Neoplastic Process 27 0.010 None 1.000 1 2019 2019
CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
disease Disease or Syndrome 4 15 0.010 None 1.000 1 2019 2019
CUI: C0149651
Disease: Clubbing
Clubbing
phenotype Sign or Symptom 32 1 0.100 None 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis
disease Disease or Syndrome 20 1 0.100 None 0
Right to left cardiovascular shunt (finding)
phenotype Finding 3 0.100 None 0
CUI: C0854242
Disease: Gastrointestinal angiodysplasia
Gastrointestinal angiodysplasia
disease Disease or Syndrome 4 0.100 None 0
CUI: C1619711
Disease: Gastrointestinal telangiectasia
Gastrointestinal telangiectasia
disease Disease or Syndrome 2 0.100 None 0
CUI: C1697453
Disease: Spontaneous hematomas
Spontaneous hematomas
disease Disease or Syndrome 33 0.100 None 0
CUI: C1857697
Disease: Lip telangiectasia
Lip telangiectasia
phenotype Finding 4 0.100 None 0
CUI: C1857699
Disease: Palate telangiectasia
Palate telangiectasia
phenotype Finding 2 1 0.100 None 0
CUI: C1861248
Disease: Fingerpad telangiectases
Fingerpad telangiectases
phenotype Finding 2 0.100 None 0