MKS1, MKS transition zone complex subunit 1, 54903

N. diseases: 231; N. variants: 57
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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.100 None 1.000 16 2005 2020
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.100 None 1.000 15 2005 2020
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.100 None 1.000 15 2005 2020
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3926 712 0.100 None 1.000 11 1991 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.090 None 1.000 9 2015 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
group Neoplasms Neoplastic Process 10161 1644 0.060 None 1.000 6 2005 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.040 None 1.000 4 2015 2018
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
group Neoplasms Neoplastic Process 8221 1374 0.040 None 1.000 4 2015 2018
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.140 None 1.000 4 2017 2018
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.340 None 1.000 4 2007 2016
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.030 None 1.000 3 2017 2018
CUI: C0338113
Disease: Uterine Corpus Sarcoma
Uterine Corpus Sarcoma
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 30 0.030 None 1.000 3 1983 2018
CUI: C0015625
Disease: Fanconi Anemia
Fanconi Anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 394 173 0.020 None 1.000 2 2015 2017
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 96 103 0.020 None 1.000 2 2011 2016
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
disease Neoplasms Neoplastic Process 3177 281 0.020 None 1.000 2 2011 2019
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
disease Neoplasms Neoplastic Process 3197 186 0.020 None 1.000 2 2011 2018
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.020 None 0.500 2 1995 2017
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 274 83 0.210 None 1.000 2 2004 2010
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 360 194 0.020 None 1.000 2 2015 2017
CUI: C0151650
Disease: Renal fibrosis
Renal fibrosis
disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 570 1 0.300 None 1.000 1 2006 2006
CUI: C0948368
Disease: Kaufman-McKusick syndrome
Kaufman-McKusick syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome 10 6 0.010 None 1.000 1 2004 2004
MRSA - Methicillin resistant Staphylococcus aureus infection
disease Infections Disease or Syndrome 222 1 0.010 None 1.000 1 2012 2012
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections
group Infections; Respiratory Tract Diseases Disease or Syndrome 187 10 0.010 None 1.000 1 2017 2017
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None < 0.001 1 2017 2017
CUI: C0278134
Disease: Absence of sensation
Absence of sensation
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 111 5 0.010 None 1.000 1 2017 2017