Neuronal ceroid lipofuscinosis

Disease Term Disease ID Gene Symbol Classification References Source
Adult Neuronal Ceroid Lipofuscinosis C0022797 CLN3 Causal Pathogenic evidence from ClinVar - ClinVar
CLN6 Causal Pathogenic evidence from ClinVar 21549341, 21990111, 23789114, 27604308, 30561534 ClinVar
TPP1 Causal Pathogenic evidence from ClinVar 10320038, 11589009 ClinVar
ATP13A2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22022275, 22847264 -
Ceroid Lipofuscinosis, Neuronal, Parry Type C1834207 CLN3 Causal Pathogenic evidence from ClinVar - ClinVar
CLN6 Causal Pathogenic evidence from ClinVar 23789114 ClinVar
DNAJC5 Causal Pathogenic evidence from ClinVar 21820099, 22073189, 22235333, 22902780, 22978711 ClinVar
TPP1 Causal Pathogenic evidence from ClinVar 10320038, 11589009 ClinVar
CLN3 disease 228346 CLN3 Causal Pathogenic evidence from ClinVar - ClinVar
Infantile neuronal ceroid lipofuscinosis C0268281 CLN3 Causal Pathogenic evidence from ClinVar - ClinVar
CLN6 Causal Pathogenic evidence from ClinVar 23789114 ClinVar
PPT1 Causal Pathogenic evidence from ClinVar - ClinVar
TPP1 Causal Pathogenic evidence from ClinVar 10320038, 11589009 ClinVar
Juvenile Neuronal Ceroid Lipofuscinosis C0751383 CLN3 Causal Pathogenic evidence from ClinVar 7553855, 9311735, 9450775, 9490299, 9618513, 9932957, 10332042, 10749980, 10924275, 12189165, 14699076, 17947292, 19132115, 19489875, 20187884, 21499717, 21990111, 22013180, 22261744, 22545070, 23374165, 23539563, 25525159, 27604308, 30053402 ClinVar
CLN6 Causal Pathogenic evidence from ClinVar 23789114 ClinVar
TPP1 Causal Pathogenic evidence from ClinVar 10320038, 11589009 ClinVar
Late-Infantile Neuronal Ceroid Lipfuscinosis C0022340 CLN3 Causal Pathogenic evidence from ClinVar - ClinVar
CLN6 Causal Pathogenic evidence from ClinVar 23789114 ClinVar
MFSD8 Causal Pathogenic evidence from ClinVar - ClinVar
TPP1 Causal Pathogenic evidence from ClinVar 10320038, 11589009 ClinVar
Neuronal Ceroid-Lipofuscinoses C0027877 CLN3 Causal Pathogenic evidence from ClinVar 9311735, 10749980, 16291725, 17475770, 17868323, 17947292, 19132115, 20187884, 21499717, 21990111, 23539563, 24271013 ClinVar
CLN5 Causal Pathogenic evidence from ClinVar 9662406, 11971870, 12134079, 19201763, 20052765, 20157158, 20960652, 21990111, 22532218, 23374165, 24038957, 24058541, 26342652 ClinVar
CLN6 Causal Pathogenic evidence from ClinVar 23789114 ClinVar
CLN8 Causal Pathogenic evidence from ClinVar 10861296, 15024724, 15160397, 19807737, 23374165, 25326637 ClinVar
DNAJC5 Causal Pathogenic evidence from ClinVar 21820099, 22073189, 22235333, 22902780, 22978711 ClinVar
KCTD7 Causal Pathogenic evidence from ClinVar 22748208 ClinVar
MFSD8 Causal Pathogenic evidence from ClinVar - ClinVar
PPT1 Causal Pathogenic evidence from ClinVar 9425237, 9664077, 10191107, 10679943, 11073228, 11440996, 11589012, 17565660, 25574475 ClinVar
TPP1 Causal Pathogenic evidence from ClinVar 9295267, 9788728, 10320038, 10330339, 10356316, 11339651, 11589009, 12376936, 12698559, 15317752, 18283468, 19793312, 20340139, 21990111, 22832778, 23266810, 23418007, 23539563, 25525159, 26075876, 26795593 ClinVar
ARSG Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25452429 -
CEROID LIPOFUSCINOSIS, NEURONAL, 5 C1850442 CLN5 Causal Pathogenic evidence from ClinVar 9662406, 10953198, 12134079, 15728307, 16814585, 17607606, 18684116, 19309691, 20052765, 20157158, 21990111, 22532218, 22727047, 23160995, 23374165, 24038957, 24058541, 26342652, 27604308 ClinVar
CLN5 disease 228360 CLN5 Causal Pathogenic evidence from ClinVar - ClinVar
CEROID LIPOFUSCINOSIS, NEURONAL, 6 C1866282 CLN6 Causal Pathogenic evidence from ClinVar 11727201, 11791207, 12673792, 12815591, 15265688, 17453415, 19135028, 19201763, 20020536, 21359198, 21549341, 21990111, 23180398, 23516525, 23735787, 26075876, 27604308, 30561534 ClinVar
CLN4A disease 228340 CLN6 Causal Pathogenic evidence from ClinVar - ClinVar
CLN6 disease 228363 CLN6 Causal Pathogenic evidence from ClinVar - ClinVar
CEROID LIPOFUSCINOSIS, NEURONAL, 8 C1838570 CLN8 Causal Pathogenic evidence from ClinVar 10508524, 10861296, 15024724, 15160397, 16570191, 16828266, 19201763, 19431184, 19807737, 21990111, 22220808, 26075876, 26443629, 27604308, 28116333 ClinVar
CLN8 disease 228354 CLN8 Causal Pathogenic evidence from ClinVar - ClinVar
CLN10 disease 228337 CTSD Causal Pathogenic evidence from ClinVar - ClinVar
NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY C1864669 CTSD Causal Pathogenic evidence from ClinVar 16670177, 16685649, 21990111, 27604308 ClinVar
CLN13 disease 352709 CTSF Causal Pathogenic evidence from ClinVar - ClinVar
CLN4B disease 228343 DNAJC5 Causal Pathogenic evidence from ClinVar - ClinVar
Neuronal Ceroid Lipofuscinosis Type 4B C4284284 DNAJC5 Causal Pathogenic evidence from ClinVar 22235333 ClinVar
CLN11 disease 314629 GRN Causal Pathogenic evidence from ClinVar - ClinVar
Ceroid Lipofuscinosis, Neuronal, 7 C1838571 MFSD8 Causal Pathogenic evidence from ClinVar 17564970, 18850119, 19177532, 19201763, 19277732, 21990111, 22612257, 25227500, 25439737, 25976102, 27604308, 28586915, 28708303 ClinVar
CLN7 disease 228366 MFSD8 Causal Pathogenic evidence from ClinVar - ClinVar
Ceroid lipofuscinosis, neuronal 1, infantile C2931673 PPT1 Causal Pathogenic evidence from ClinVar 7637805, 21224254, 27722792 ClinVar
CEROID LIPOFUSCINOSIS, NEURONAL, 1 C1850451 PPT1 Causal Pathogenic evidence from ClinVar 2538469, 7637805, 9425237, 9571187, 9664077, 9733046, 9793631, 10191109, 10477428, 10649502, 10679943, 10781062, 11073228, 11440996, 11506414, 11520175, 11589012, 12796825, 14997939, 17044973, 17565660, 19201763, 19302939, 19440452, 19793631, 19941651, 21228398, 21499717, 21704547, 21990111, 22387303, 23374165, 23539563, 23857568, 24997880, 26795593, 27604308, 28878621 ClinVar
CLN1 disease 228329 PPT1 Causal Pathogenic evidence from ClinVar - ClinVar
CEROID LIPOFUSCINOSIS, NEURONAL, 2 C1876161 TPP1 Causal Pathogenic evidence from ClinVar 9295267, 9788728, 10330339, 10356316, 10665500, 10862088, 11054422, 11241479, 11339651, 11589012, 11589013, 12125808, 12376936, 12414822, 12698559, 12950156, 14736728, 15317752, 17679671, 17959406, 18411270, 18684116, 19038966, 19038967, 19201763, 19246452, 19793312, 20340139, 20820830, 21990111, 22221116, 22245569, 22612257, 23266810, 23374165, 23418007, 23539563, 25525159, 26032578, 26633542, 26795593, 27604308, 28464005, 28554332 ClinVar
CLN2 disease 228349 TPP1 Causal Pathogenic evidence from ClinVar - ClinVar