KIAA1549, KIAA1549, 57670

N. diseases: 64; N. variants: 0
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: C0268398
Disease: Familial lichen amyloidosis
Familial lichen amyloidosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 230 24 0.010 None 1.000 1 2019 2019
CUI: C1335114
Disease: Optic Nerve Astrocytoma
Optic Nerve Astrocytoma 		disease Neoplasms; Eye Diseases; Nervous System Diseases Neoplastic Process 3 0.010 None 1.000 1 2013 2013
CUI: C0017638
Disease: Glioma
Glioma 		disease Neoplasms Neoplastic Process 3097 353 0.010 None 1.000 1 2014 2014
CUI: C3280492
Disease: TUMOR PREDISPOSITION SYNDROME
TUMOR PREDISPOSITION SYNDROME 		disease Disease or Syndrome 16 62 0.010 None 1.000 1 2014 2014
CUI: C3899646
Disease: Childhood Pilomyxoid Astrocytoma
Childhood Pilomyxoid Astrocytoma 		disease Neoplastic Process 10 2 0.010 None < 0.001 1 2020 2020
CUI: C0334230
Disease: Malignant tumor, fusiform cell type
Malignant tumor, fusiform cell type 		disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2014 2014
CUI: C0021432
Disease: Infratentorial Neoplasms
Infratentorial Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 11 0.010 None 1.000 1 2013 2013
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Neoplastic Process 311 827 0.010 None 1.000 1 2014 2014
CUI: C2347979
Disease: Rosette-forming glioneuronal tumor of the fourth ventricle
Rosette-forming glioneuronal tumor of the fourth ventricle 		disease Neoplasms; Nervous System Diseases Neoplastic Process 2 0.010 None 1.000 1 2011 2011
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 1018 204 0.010 None 1.000 1 2019 2019
CUI: C0205768
Disease: Subependymal Giant Cell Astrocytoma
Subependymal Giant Cell Astrocytoma 		disease Neoplasms Neoplastic Process 44 2 0.300 None 1.000 1 2013 2013
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 546 541 0.300 None 1.000 1 2018 2018
CUI: C0085136
Disease: Central Nervous System Neoplasms
Central Nervous System Neoplasms 		group Neoplasms; Nervous System Diseases Neoplastic Process 180 72 0.010 None 1.000 1 2016 2016
CUI: C1704230
Disease: Grade I Astrocytoma
Grade I Astrocytoma 		disease Neoplasms Neoplastic Process 35 0.300 None 1.000 1 2013 2013
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C4024818
Disease: Progressive night blindness
Progressive night blindness 		phenotype Eye Diseases Finding 87 3 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C4021786
Disease: Atypical scarring of skin
Atypical scarring of skin 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 101 1 0.100 None 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		phenotype Finding 215 5 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0 		phenotype Finding 779 0.100 None 0
CUI: C0476397
Disease: Electroretinogram abnormal
Electroretinogram abnormal 		phenotype Finding 158 10 0.100 None 0
CUI: C0017601
Disease: Glaucoma
Glaucoma 		disease Eye Diseases Disease or Syndrome 770 198 0.100 None 0
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 291 5 0.100 None 0