Neuronal ceroid lipofuscinosis

Disease Term Disease ID Gene Symbol Classification References Source
ADULT NEURONAL CEROID LIPOFUSCINOSIS
MONDO:0019260
CTSF Unknown
16508006 23297359 25274848 27524508 27668283 28749476 29120254 33578366 34561610 3513975
GWAS catalog
DNAJC5 Unknown
21820099 22073189 22235333 22978711 24277206 26659577 29506599 31919451 35462699
ClinVar
CEROID LIPOFUSCINOSIS, NEURONAL 1, INFANTILE
MESH:C537948
FIS1 Unknown
21224254
CTD
GFAP Unknown
21224254
CTD
MFN1 Unknown
21224254
CTD
PARP1 Unknown
21224254
CTD
PPARGC1A Unknown
21224254
CTD
PPT1 Unknown
21224254 27722792 7637805
CTD
RPS6KB1 Unknown
21224254
CTD
SIRT1 Unknown
21224254
CTD
SYP Unknown
21224254
CTD
TFAM Unknown
21224254
CTD
CEROID LIPOFUSCINOSIS, NEURONAL 5
MESH:C575534
CLN5 Unknown — CTD
CEROID LIPOFUSCINOSIS, NEURONAL 8
MESH:C537952
CLN8 Unknown — CTD
CEROID LIPOFUSCINOSIS, NEURONAL, 1
C1850451256730MESH:C564953
CLN8 Unknown — Disgenet
FIS1 Unknown — Disgenet
GFAP Unknown — Disgenet
MFN1 Unknown — Disgenet
PARP1 Unknown — Disgenet
PPARGC1A Unknown — Disgenet
PPT1 Unknown
9425237
CTD Disgenet HPO
RPS6KB1 Unknown — Disgenet
SIRT1 Unknown — Disgenet
SYP Unknown — Disgenet
TFAM Unknown — Disgenet
CEROID LIPOFUSCINOSIS, NEURONAL, 10
610127MESH:C566438
CTSD Unknown — CTD HPO
CEROID LIPOFUSCINOSIS, NEURONAL, 11
C3539123614706OMIM:614706
FAM171A2 Unknown — Disgenet
GRN Unknown — CTD Disgenet HPO
CEROID LIPOFUSCINOSIS, NEURONAL, 13
615362C3715049OMIM:615362
CTSF Unknown — CTD Disgenet HPO
CEROID LIPOFUSCINOSIS, NEURONAL, 15
619173
CLCN6 Unknown — HPO
CEROID LIPOFUSCINOSIS, NEURONAL, 2
204500C1876161MESH:C566857
TPP1 Unknown — CTD Disgenet HPO
CEROID LIPOFUSCINOSIS, NEURONAL, 3
204200
CLN3 Unknown — HPO
CEROID LIPOFUSCINOSIS, NEURONAL, 4
162350MONDO:0008083
DNAJC5 Unknown — ClinVar GenCC HPO
CEROID LIPOFUSCINOSIS, NEURONAL, 5
256731C1850442
CLN5 Unknown — Disgenet HPO
CEROID LIPOFUSCINOSIS, NEURONAL, 6
MESH:C566627
CLN6 Unknown
23516525
CTD
GSK3B Unknown
23516525
CTD
MAPK1 Unknown
23516525
CTD
MAPK3 Unknown
23516525
CTD
STX6 Unknown
23516525
CTD
SYP Unknown
23516525
CTD
CEROID LIPOFUSCINOSIS, NEURONAL, 6A
601780C5551375MONDO:0011144
CLN6 Causal — ClinVar Disgenet GenCC HPO
SMPD1 Causal — Disgenet
GSK3B Unknown — Disgenet
MAPK1 Unknown — Disgenet
MAPK3 Unknown — Disgenet
STX6 Unknown — Disgenet
SYP Unknown — Disgenet
CEROID LIPOFUSCINOSIS, NEURONAL, 6B
204300C5561927MONDO:0008768
CLN6 Unknown — ClinVar Disgenet GenCC HPO
CEROID LIPOFUSCINOSIS, NEURONAL, 7
610951C1838571MESH:C563989
MFSD8 Unknown — CTD Disgenet HPO
CEROID LIPOFUSCINOSIS, NEURONAL, 8
600143C1838570
CLN8 Unknown — Disgenet HPO