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: C0241224
Disease: Spinal cord lesion
Spinal cord lesion 		phenotype Nervous System Diseases Finding 7 0.100 None 0
CUI: C0346390
Disease: Hemangioma of choroid
Hemangioma of choroid 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 4 2 0.100 None 0
CUI: C4022748
Disease: Focal T2 hyperintense brainstem lesion
Focal T2 hyperintense brainstem lesion 		phenotype Finding 33 2 0.100 None 0
CUI: C4022747
Disease: Focal T2 hypointense brainstem lesion
Focal T2 hypointense brainstem lesion 		phenotype Finding 3 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C4021745
Disease: Abnormality of the musculature
Abnormality of the musculature 		phenotype Anatomical Abnormality 24 0.100 None 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		phenotype Nutritional and Metabolic Diseases; Nervous System Diseases Finding 103 8 0.100 None 0
CUI: C0265950
Disease: Venous malformation
Venous malformation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 38 3 0.100 None 0
CUI: C0037268
Disease: Skin Abnormalities
Skin Abnormalities 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 106 16 0.100 None 0
CUI: C1838993
Disease: Episodic vomiting
Episodic vomiting 		phenotype Pathological Conditions, Signs and Symptoms Finding 43 10 0.100 None 0
CUI: C0027858
Disease: Neuroma
Neuroma 		disease Neoplasms Neoplastic Process 15 0.100 None 0
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: C2937220
Disease: Congenital abnormality of vein
Congenital abnormality of vein 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 39 7 0.100 None 0
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 122 78 0.100 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: 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: 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: C0162819
Disease: Skin Diseases, Vascular
Skin Diseases, Vascular 		group Skin and Connective Tissue Diseases Disease or Syndrome 11 2 0.100 None 0
CUI: C0151699
Disease: Intracranial Hemorrhage
Intracranial Hemorrhage 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 40 2 0.100 None 0
CUI: C0151740
Disease: Intracranial Hypertension
Intracranial Hypertension 		disease Nervous System Diseases Finding 72 1 0.100 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: C0020676
Disease: Hypothyroidism
Hypothyroidism 		disease Endocrine System Diseases Disease or Syndrome 613 283 0.010 None 1.000 1 1987 1987
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		disease Neoplasms Neoplastic Process 2420 231 0.040 None 1.000 4 1989 2016