CA1, carbonic anhydrase 1, 759

N. diseases: 66; N. variants: 7
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: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease
disease Digestive System Diseases Disease or Syndrome 446 52 0.040 None 0.750 4 2017 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.040 None 1.000 4 2016 2019
CUI: C0018834
Disease: Heartburn
Heartburn
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 139 5 0.020 None 0.500 2 2018 2019
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer
disease Digestive System Diseases; Neoplasms Neoplastic Process 312 119 0.300 None 1.000 2 2004 2009
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms
group Digestive System Diseases; Neoplasms Neoplastic Process 820 55 0.300 None 1.000 2 2004 2009
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
disease Digestive System Diseases; Neoplasms Neoplastic Process 3806 615 0.300 None 1.000 2 2004 2009
CUI: C0155550
Disease: Neural hearing loss
Neural hearing loss
disease Otorhinolaryngologic Diseases Disease or Syndrome 6 0.010 None 1.000 1 1974 1974
CUI: C0275518
Disease: Acute infectious disease
Acute infectious disease
group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 198 5 0.010 None 1.000 1 2019 2019
CUI: C0267055
Disease: Erosive esophagitis
Erosive esophagitis
disease Digestive System Diseases Disease or Syndrome 16 0.010 None 1.000 1 2019 2019
Metastatic malignant neoplasm to brain
disease Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases Neoplastic Process 392 28 0.010 None 1.000 1 1990 1990
CUI: C0205645
Disease: Adenocarcinoma, Tubular
Adenocarcinoma, Tubular
disease Neoplasms Neoplastic Process 133 3 0.300 None 1.000 1 2004 2004
CUI: C0205644
Disease: Carcinoma, Granular Cell
Carcinoma, Granular Cell
disease Neoplasms Neoplastic Process 116 0.300 None 1.000 1 2004 2004
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 972 125 0.010 None 1.000 1 2011 2011
CUI: C0205643
Disease: Carcinoma, Cribriform
Carcinoma, Cribriform
disease Neoplasms Neoplastic Process 117 0.300 None 1.000 1 2004 2004
CUI: C0205642
Disease: Adenocarcinoma, Oxyphilic
Adenocarcinoma, Oxyphilic
disease Neoplasms Neoplastic Process 135 0.300 None 1.000 1 2004 2004
CUI: C0205641
Disease: Adenocarcinoma, Basal Cell
Adenocarcinoma, Basal Cell
disease Neoplasms Neoplastic Process 123 0.300 None 1.000 1 2004 2004
CUI: C0162316
Disease: Iron deficiency anemia
Iron deficiency anemia
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 83 21 0.010 None 1.000 1 2015 2015
CUI: C4552766
Disease: Miscarriage
Miscarriage
disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 426 56 0.010 None 1.000 1 2020 2020
CUI: C0275544
Disease: Congenital infectious disease
Congenital infectious disease
group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections Disease or Syndrome 29 7 0.010 None 1.000 1 2017 2017
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma
disease Neoplasms Neoplastic Process 2420 231 0.010 None 1.000 1 2019 2019
CUI: C3714948
Disease: PACHYONYCHIA CONGENITA 3
PACHYONYCHIA CONGENITA 3
disease Disease or Syndrome 209 20 0.010 None 1.000 1 2019 2019
Idiopathic pulmonary arterial hypertension
disease Respiratory Tract Diseases Disease or Syndrome 776 24 0.010 None 1.000 1 2019 2019
CUI: C2242528
Disease: Non-erosive reflux disease
Non-erosive reflux disease
disease Disease or Syndrome 17 0.010 None 1.000 1 2018 2018
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome
disease Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases Disease or Syndrome 481 47 0.010 None 1.000 1 2001 2001
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
phenotype Sign or Symptom 69 23 0.010 None 1.000 1 2017 2017