KRIT1, KRIT1 ankyrin repeat containing, 889

N. diseases: 201; N. variants: 43
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: C1366911
Disease: Cerebral Cavernous Malformations 1
Cerebral Cavernous Malformations 1
disease Disease or Syndrome 5 7 0.190 strong 1.000 9 4 2002 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.070 None 1.000 7 2000 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.050 None 1.000 5 1997 2012
CUI: C0221505
Disease: Lesion of brain
Lesion of brain
group Disease or Syndrome 188 9 0.040 None 1.000 4 2002 2016
CUI: C1402315
Disease: Vascular lesions
Vascular lesions
disease Disease or Syndrome 111 9 0.030 None 1.000 3 2009 2017
CUI: C0856169
Disease: Endothelial dysfunction
Endothelial dysfunction
phenotype Disease or Syndrome 716 25 0.020 None 1.000 2 2018 2019
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
phenotype Laboratory Procedure 563 1418 0.100 None 1.000 1 1 2012 2012
CUI: C0678255
Disease: polydrug use
polydrug use
disease Mental or Behavioral Dysfunction 7 0.010 None 1.000 1 2020 2020
Locally Metastatic Malignant Neoplasm
disease Neoplastic Process 8 0.010 None 1.000 1 2019 2019
CUI: C1608408
Disease: Malignant transformation
Malignant transformation
phenotype Neoplastic Process 1027 20 0.010 None 1.000 1 1994 1994
CUI: C1708957
Disease: Mediastinal Paraganglioma
Mediastinal Paraganglioma
disease Neoplastic Process 5 2 0.010 None 1.000 1 2019 2019
CUI: C1855263
Disease: Disorganized thinking
Disorganized thinking
disease Mental or Behavioral Dysfunction 8 0.010 None 1.000 1 2018 2018
Adult onset autosomal dominant leukodystrophy
disease Disease or Syndrome 9 0.010 None 1.000 1 2010 2010
CUI: C3203501
Disease: Hypoactive delirium
Hypoactive delirium
disease Mental or Behavioral Dysfunction 7 0.010 None 1.000 1 2017 2017
CUI: C3203503
Disease: Mixed delirium
Mixed delirium
disease Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2017 2017
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 2019 2019
CUI: C4525297
Disease: Stage 0 Gallbladder Cancer AJCC v8
Stage 0 Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2012 2012
Stage IIA Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2012 2012
Stage IIB Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2012 2012
Stage III Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2012 2012
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8
disease Neoplastic Process 367 56 0.010 None 1.000 1 2012 2012
CUI: C1861790
Disease: Hepatic vascular malformations
Hepatic vascular malformations
phenotype Finding 1 0.100 None 0
CUI: C1861791
Disease: Retinal vascular malformation
Retinal vascular malformation
phenotype Finding 1 0.100 None 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature
phenotype Anatomical Abnormality 24 0.100 None 0
Focal T2 hypointense brainstem lesion
phenotype Finding 3 0.100 None 0