FGFR1, fibroblast growth factor receptor 1, 2260

N. diseases: 816; N. variants: 119
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: C0521170
Disease: Osteoporotic Fractures
Osteoporotic Fractures 		group Wounds and Injuries Disease or Syndrome 108 40 0.010 None 1.000 1 2008 2008
CUI: C0033785
Disease: Pseudarthrosis
Pseudarthrosis 		phenotype Wounds and Injuries Pathologic Function 5 1 0.100 None 0
CUI: C0026636
Disease: Mouth Diseases
Mouth Diseases 		group Stomatognathic Diseases Disease or Syndrome 17 0.200 None 1.000 1 2004 2004
CUI: C0080233
Disease: Tooth Loss
Tooth Loss 		disease Stomatognathic Diseases Acquired Abnormality 49 8 0.010 None < 0.001 1 4 2006 2006
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		disease Stomatognathic Diseases Congenital Abnormality 181 19 0.110 None 1.000 1 1 2017 2017
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding 		phenotype Stomatognathic Diseases Finding 82 19 0.100 None 0
CUI: C0040458
Disease: Unerupted tooth
Unerupted tooth 		phenotype Stomatognathic Diseases Finding 5 1 0.100 None 0
CUI: C4025069
Disease: Multiple unerupted teeth
Multiple unerupted teeth 		phenotype Stomatognathic Diseases Finding 2 0.100 None 0
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 2723 2387 0.010 None 1.000 1 2003 2003
CUI: C0000889
Disease: Acanthosis Nigricans
Acanthosis Nigricans 		disease Skin and Connective Tissue Diseases Disease or Syndrome 64 11 0.010 None 1.000 1 2003 2003
CUI: C0263662
Disease: Disseminated eosinophilic collagen disease
Disseminated eosinophilic collagen disease 		disease Skin and Connective Tissue Diseases Disease or Syndrome 14 2 0.010 None < 0.001 1 2009 2009
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 382 6 0.010 None 1.000 1 2020 2020
CUI: C0018418
Disease: Gynecomastia
Gynecomastia 		disease Skin and Connective Tissue Diseases Disease or Syndrome 121 8 0.100 None 0
CUI: C0020620
Disease: Hypohidrosis
Hypohidrosis 		disease Skin and Connective Tissue Diseases Disease or Syndrome 69 1 0.100 None 0
CUI: C0151908
Disease: Dry skin
Dry skin 		phenotype Skin and Connective Tissue Diseases Sign or Symptom 159 12 0.100 None 0
CUI: C0584837
Disease: Choanal stenosis
Choanal stenosis 		phenotype Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Finding 14 2 0.100 None 0
CUI: C0023051
Disease: Laryngeal Diseases
Laryngeal Diseases 		group Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 159 7 0.010 None 1.000 1 2018 2018
CUI: C0027429
Disease: Nasal obstruction present finding
Nasal obstruction present finding 		phenotype Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding 7 0.100 None 0
CUI: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.100 None 0
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		disease Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome 413 70 0.100 None 0
CUI: C0020542
Disease: Pulmonary Hypertension
Pulmonary Hypertension 		phenotype Respiratory Tract Diseases Pathologic Function 156 0.200 None 1.000 1 2009 2009
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		disease Respiratory Tract Diseases Disease or Syndrome 1428 852 0.010 None 1.000 1 2018 2018
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		disease Respiratory Tract Diseases Disease or Syndrome 352 64 0.010 None 1.000 1 2019 2019
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.110 None 1.000 1 2013 2013
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency 		phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0