| Late-Infantile Neuronal Ceroid Lipfuscinosis |
C0022340 |
TPP1
|
10320038, 11589009 |
|
CLN3
|
|
|
ATP13A2
|
22847264, 22022275 |
|
CLN6
|
23789114 |
|
MFSD8
|
|
| Ceroid lipofuscinosis, neuronal 1, infantile |
C2931673 |
PARP1
|
21224254 |
|
GFAP
|
21224254 |
|
PPT1
|
7637805, 27722792, 21224254 |
|
RPS6KB1
|
21224254 |
|
SYP
|
21224254 |
|
TFAM
|
21224254 |
|
PPARGC1A
|
21224254 |
|
SIRT1
|
21224254 |
|
FIS1
|
21224254 |
|
MFN1
|
21224254 |
| Adult Neuronal Ceroid Lipofuscinosis |
C0022797 |
TPP1
|
10320038, 11589009 |
|
CLN3
|
|
|
ATP13A2
|
22022275, 22847264 |
|
CLN6
|
21990111, 21549341, 30561534, 23789114, 27604308 |
| Neuronal Ceroid-Lipofuscinoses |
C0027877 |
TPP1
|
12698559, 18283468, 23418007, 12376936, 26795593, 9788728, 25525159, 11589009, 10330339, 10356316, 26075876, 10320038, 21990111, 23266810, 15317752, 19793312, 23539563, 11339651, 20340139, 22832778, 9295267 |
|
CLN3
|
17475770, 21499717, 19132115, 17868323, 17947292, 21990111, 9311735, 20187884, 23539563, 10749980, 24271013, 16291725 |
|
CLN5
|
21990111, 19201763, 24058541, 20052765, 20960652, 9662406, 20157158, 23374165, 11971870, 26342652, 22532218, 24038957, 12134079 |
|
CLN8
|
23374165, 25326637, 10861296, 19807737, 15024724, 15160397 |
|
PPT1
|
9664077, 17565660, 11440996, 25574475, 11073228, 11589012, 10679943, 9425237, 10191107 |
|
ARSG
|
25452429 |
|
ATP13A2
|
22022275, 22847264 |
|
FBXL3
|
20157158, 9662406, 12134079, 20052765, 24058541, 24038957, 20960652, 21990111, 19201763, 22532218, 11971870, 26342652, 23374165 |
|
CLN6
|
23789114 |
|
DNAJC5
|
22073189, 22235333, 21820099, 22978711, 22902780 |
|
KCTD7
|
22748208 |
|
MFSD8
|
|
| Infantile neuronal ceroid lipofuscinosis |
C0268281 |
TPP1
|
11589009, 10320038 |
|
CLN3
|
|
|
PPT1
|
|
|
ATP13A2
|
22022275, 22847264 |
|
CLN6
|
23789114 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
C0751383 |
TPP1
|
10320038, 11589009 |
|
CLN3
|
9450775, 9932957, 21990111, 9618513, 17947292, 25525159, 9311735, 19132115, 23539563, 14699076, 10749980, 22261744, 22545070, 7553855, 9490299, 10332042, 12189165, 19489875, 20187884, 27604308, 23374165, 10924275, 30053402, 21499717, 22013180 |
|
ATP13A2
|
22847264, 22022275 |
|
CLN6
|
23789114 |
| Ceroid Lipofuscinosis, Neuronal, Parry Type |
C1834207 |
TPP1
|
11589009, 10320038 |
|
CLN3
|
|
|
ATP13A2
|
22022275, 22847264 |
|
CLN6
|
23789114 |
|
DNAJC5
|
22978711, 21820099, 22235333, 22902780, 22073189 |
| CEROID LIPOFUSCINOSIS, NEURONAL, 2 |
C1876161 |
TPP1
|
23266810, 11241479, 22221116, 26032578, 23418007, 11589012, 20340139, 10356316, 11054422, 10330339, 15317752, 22245569, 19201763, 12376936, 10665500, 21990111, 22612257, 23374165, 28464005, 10862088, 9295267, 12698559, 19038967, 9788728, 25525159, 27604308, 19793312, 11339651, 17679671, 23539563, 18684116, 20820830, 11589013, 12414822, 26795593, 12950156, 28554332, 19246452, 14736728, 19038966, 17959406, 18411270, 12125808, 26633542 |
| CEROID LIPOFUSCINOSIS, NEURONAL, 5 |
C1850442 |
CLN5
|
24058541, 10953198, 27604308, 19309691, 22727047, 23374165, 20052765, 12134079, 22532218, 18684116, 9662406, 24038957, 26342652, 21990111, 17607606, 15728307, 20157158, 23160995, 16814585 |
|
FBXL3
|
24038957, 22727047, 12134079, 24058541, 23374165, 26342652, 20157158, 18684116, 20052765, 22532218, 9662406, 10953198, 21990111, 23160995 |
| NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY |
C1864669 |
CTSD
|
16685649, 21990111, 16670177, 27604308 |
| CEROID LIPOFUSCINOSIS, NEURONAL, 8 |
C1838570 |
CLN8
|
19201763, 26075876, 26443629, 16828266, 19807737, 15024724, 15160397, 21990111, 10508524, 27604308, 10861296, 16570191, 22220808, 28116333, 19431184 |
| CEROID LIPOFUSCINOSIS, NEURONAL, 6 |
C1866282 |
GSK3B
|
23516525 |
|
MAPK1
|
23516525 |
|
MAPK3
|
23516525 |
|
SMPD1
|
|
|
SYP
|
23516525 |
|
STX6
|
23516525 |
|
CLN6
|
11791207, 21990111, 17453415, 11727201, 21549341, 21359198, 12815591, 23735787, 20020536, 15265688, 19201763, 19135028, 30561534, 12673792, 23516525, 27604308, 23180398, 26075876 |
| CEROID LIPOFUSCINOSIS, NEURONAL, 1 |
C1850451 |
PPT1
|
9571187, 9664077, 19302939, 17044973, 14997939, 19941651, 21990111, 10781062, 10477428, 10649502, 11440996, 2538469, 11520175, 23539563, 10679943, 24997880, 19201763, 23374165, 9425237, 7637805, 19793631, 21704547, 21499717, 11073228, 19440452, 17565660, 9733046, 22387303, 23857568, 10191109, 11589012, 9793631, 12796825, 27604308, 11506414, 28878621, 21228398, 26795593 |
| Neuronal Ceroid Lipofuscinosis Type 4B |
C4284284 |
DNAJC5
|
22235333 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
C1838571 |
MFSD8
|
17564970, 21990111, 18850119, 19277732, 22612257, 25976102, 19201763, 25439737, 28708303, 28586915, 19177532, 25227500, 27604308 |
| CLN7 disease |
228366 |
MFSD8
|
|
| CLN6 disease |
228363 |
CLN6
|
|
| CLN5 disease |
228360 |
CLN5
|
|
| CLN4A disease |
228340 |
CLN6
|
|
| CLN10 disease |
228337 |
CTSD
|
|
| CLN1 disease |
228329 |
PPT1
|
|
| CLN8 disease |
228354 |
CLN8
|
|
| CLN2 disease |
228349 |
TPP1
|
|
| CLN3 disease |
228346 |
CLN3
|
|
| CLN4B disease |
228343 |
DNAJC5
|
|
| CLN11 disease |
314629 |
GRN
|
|
| ATP13A2-related juvenile neuronal ceroid lipofuscinosis |
314632 |
ATP13A2
|
|
| CLN13 disease |
352709 |
CTSF
|
|
