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: C0340828
Disease: Capillary-venous malformation
Capillary-venous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 1 0.020 None 1.000 2 2000 2013
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: C1140710
Disease: Cerebral Cavernous Hemangioma
Cerebral Cavernous Hemangioma 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 2 0.310 None 1.000 1 2006 2006
CUI: C1302793
Disease: Cutaneous vascular malformation
Cutaneous vascular malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 2 1 0.010 None 1.000 1 2009 2009
CUI: C0752160
Disease: Hemangioma, Cavernous, Central Nervous System
Hemangioma, Cavernous, Central Nervous System 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 2 0.300 None 0
CUI: C0752161
Disease: Cavernous Hemangioma, Extracerebral
Cavernous Hemangioma, Extracerebral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 2 0.300 None 0
CUI: C0752164
Disease: Cavernous Hemangioma, Intracerebral
Cavernous Hemangioma, Intracerebral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Congenital Abnormality 2 0.300 None 0
CUI: C1956260
Disease: Cavernous Angioma, Central Nervous System
Cavernous Angioma, Central Nervous System 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 2 0.300 None 0
CUI: C0730304
Disease: Cavernous hemangioma of retina
Cavernous hemangioma of retina 		disease Neoplasms; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 3 0.120 None 1.000 2 2006 2010
CUI: C0346072
Disease: Blue rubber bleb nevus syndrome
Blue rubber bleb nevus syndrome 		disease Digestive System Diseases; Neoplasms; Skin and Connective Tissue Diseases Congenital Abnormality 3 1 0.010 None 1.000 1 2002 2002
CUI: C4022747
Disease: Focal T2 hypointense brainstem lesion
Focal T2 hypointense brainstem lesion 		phenotype Finding 3 0.100 None 0
CUI: C2931263
Disease: Familial cerebral cavernous malformation
Familial cerebral cavernous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Neoplastic Process 4 1 0.060 strong 1.000 6 1 2004 2019
CUI: C1864041
Disease: CEREBRAL CAVERNOUS MALFORMATIONS 2
CEREBRAL CAVERNOUS MALFORMATIONS 2 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome 4 16 0.050 None 1.000 5 2006 2019
CUI: C0346390
Disease: Hemangioma of choroid
Hemangioma of choroid 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 4 2 0.100 None 0
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: C1708957
Disease: Mediastinal Paraganglioma
Mediastinal Paraganglioma 		disease Neoplastic Process 5 2 0.010 None 1.000 1 2019 2019
CUI: C3203503
Disease: Mixed delirium
Mixed delirium 		disease Mental or Behavioral Dysfunction 5 0.010 None 1.000 1 2017 2017
CUI: C0432593
Disease: Varus angulation
Varus angulation 		disease Musculoskeletal Diseases Anatomical Abnormality 6 0.010 None 1.000 1 2017 2017
CUI: C4524517
Disease: cutaneous squamous cell carcinoma of the head and neck
cutaneous squamous cell carcinoma of the head and neck 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6 0.010 None 1.000 1 2009 2009
CUI: C0678255
Disease: polydrug use
polydrug use 		disease Mental or Behavioral Dysfunction 7 0.010 None 1.000 1 2020 2020
CUI: C3203501
Disease: Hypoactive delirium
Hypoactive delirium 		disease Mental or Behavioral Dysfunction 7 0.010 None 1.000 1 2017 2017
CUI: C4048549
Disease: Malignant germ cell neoplasm
Malignant germ cell neoplasm 		disease Neoplasms Neoplastic Process 7 0.010 None 1.000 1 2017 2017
CUI: C0241224
Disease: Spinal cord lesion
Spinal cord lesion 		phenotype Nervous System Diseases Finding 7 0.100 None 0
CUI: C1334411
Disease: Locally Metastatic Malignant Neoplasm
Locally Metastatic Malignant Neoplasm 		disease Neoplastic Process 8 0.010 None 1.000 1 2019 2019