ALPK1, alpha kinase 1, 80216

N. diseases: 54; N. variants: 10
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: C0858613
Disease: Optic nerve oedema
Optic nerve oedema 		disease Disease or Syndrome 1 1 0.100 None 1.000 1 1 2019 2019
CUI: C4225670
Disease: ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS
ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS 		disease Disease or Syndrome 1 1 0.100 None 1.000 1 1 2019 2019
CUI: C1266063
Disease: Malignant eccrine spiradenoma
Malignant eccrine spiradenoma 		disease Neoplastic Process 7 0.010 None 1.000 1 2019 2019
CUI: C0001416
Disease: Adenitis
Adenitis 		phenotype Hemic and Lymphatic Diseases Sign or Symptom 9 1 0.010 None 1.000 1 2019 2019
CUI: C0015974
Disease: Periodic fever
Periodic fever 		disease Disease or Syndrome 19 5 0.010 None 1.000 1 1 2019 2019
CUI: C0334347
Disease: Eccrine spiradenoma
Eccrine spiradenoma 		disease Neoplasms Neoplastic Process 20 0.010 None 1.000 1 2019 2019
CUI: C2242712
Disease: Hyper LDL cholesterolaemia
Hyper LDL cholesterolaemia 		disease Disease or Syndrome 20 19 0.010 None 1.000 1 2 2015 2015
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		phenotype Finding 20 19 0.100 None 1.000 1 1 2019 2019
CUI: C0027719
Disease: Nephrosclerosis
Nephrosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 41 1 0.300 None 1.000 1 2016 2016
CUI: C1335167
Disease: Ovarian Mucinous Adenocarcinoma
Ovarian Mucinous Adenocarcinoma 		disease Neoplasms Neoplastic Process 45 24 0.300 None 0
CUI: C0024205
Disease: Lymphadenitis
Lymphadenitis 		disease Hemic and Lymphatic Diseases Disease or Syndrome 55 2 0.010 None 1.000 1 2019 2019
CUI: C0017667
Disease: Nodular glomerulosclerosis
Nodular glomerulosclerosis 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 59 0.300 None 1.000 1 2016 2016
CUI: C0740277
Disease: Bile duct carcinoma
Bile duct carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 91 10 0.010 None 1.000 1 2002 2002
CUI: C0018099
Disease: Gout
Gout 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 205 2354 0.300 None 1.000 1 2016 2016
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group Eye Diseases Disease or Syndrome 219 227 0.100 None 1.000 1 1 2019 2019
CUI: C1262477
Disease: Weight decreased
Weight decreased 		phenotype Pathological Conditions, Signs and Symptoms Finding 271 3 0.300 None 1.000 1 2016 2016
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		phenotype Nutritional and Metabolic Diseases Disease or Syndrome 340 169 0.010 None 1.000 1 2 2015 2015
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		phenotype Pathological Conditions, Signs and Symptoms Finding 345 19 0.100 None 1.000 1 1 2019 2019
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		disease Neoplasms Neoplastic Process 387 9 0.010 None 1.000 1 2000 2000
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		disease Neoplasms Neoplastic Process 413 9 0.010 None 1.000 1 2000 2000
CUI: C0374997
Disease: Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site
Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site 		disease Disease or Syndrome 593 24 0.010 None 1.000 1 2017 2017
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 2018 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.100 None 1.000 1 1 2018 2018
CUI: C1305855
Disease: Body mass index
Body mass index 		phenotype Clinical Attribute 1014 2689 0.100 None 1.000 4 3 2015 2019
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.030 None 1.000 3 4 2013 2019