rs864309505, TPP1

N. diseases: 10
Source: CURATED ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cerebellar atrophy
CUI: C0740279
Disease: Cerebellar atrophy
46 0.807 0.200 11 6615220 missense variant T/G snv 0.700 0
Cerebellar cortical atrophy
CUI: C4024710
Disease: Cerebellar cortical atrophy
7 0.807 0.200 11 6615220 missense variant T/G snv 0.700 0
Cerebral atrophy
CUI: C0235946
Disease: Cerebral atrophy
21 0.807 0.200 11 6615220 missense variant T/G snv 0.700 0
CEROID LIPOFUSCINOSIS, NEURONAL, 2
CUI: C1876161
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 2
66 0.807 0.200 11 6615220 missense variant T/G snv 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
78 0.807 0.200 11 6615220 missense variant T/G snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.200 11 6615220 missense variant T/G snv 0.700 0
Global brain atrophy
CUI: C0241816
Disease: Global brain atrophy
6 0.807 0.200 11 6615220 missense variant T/G snv 0.700 0
Progressive visual loss
CUI: C1839364
Disease: Progressive visual loss
11 0.807 0.200 11 6615220 missense variant T/G snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.807 0.200 11 6615220 missense variant T/G snv 0.700 0
Tonic - clonic seizures
CUI: C0494475
Disease: Tonic - clonic seizures
21 0.807 0.200 11 6615220 missense variant T/G snv 0.700 0