| Niemann-Pick disease type C, adult neurologic onset |
216986 |
NPC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPC2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Niemann-Pick disease type C, juvenile neurologic onset |
216981 |
NPC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPC2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Niemann-Pick disease type C, late infantile neurologic onset |
216978 |
NPC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPC2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Niemann-Pick disease type C, severe early infantile neurologic onset |
216975 |
NPC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPC2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Niemann-Pick disease type C, severe perinatal form |
216972 |
NPC1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
|
NPC2
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Niemann-Pick Disease, Type C |
C0220756 |
NPC1
|
Causal
Pathogenic evidence from ClinVar
|
9211849, 9802331, 10480349, 10521290, 10521297, 11182931, 11333381, 11349231, 11545687, 11754101, 12955717, 16126423, 17003072, 18216017, 19223215, 19252935, 19744920, 22216111, 22476655, 22676771, 23430855, 23433426, 23597521, 23773996, 23821321, 24570279, 25236789, 26830282, 26981555 |
ClinVar |
|
NPC2
|
Causal
Pathogenic evidence from ClinVar
|
11125141, 11567215, 12955717, 17470133, 23433426, 25236789 |
ClinVar |
|
LIPA
|
Unknown
Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations
|
20557099 |
- |
| NIEMANN-PICK DISEASE, TYPE C2 |
C1843366 |
NPC2
|
Causal
Pathogenic evidence from ClinVar
|
11125141, 11333381, 11567215, 12447927, 12955717, 15937921, 16126423, 16757520, 17470133, 18772377, 21084287, 22073306, 23433426, 25038260, 25772320, 27604308, 28105569 |
ClinVar |
| Niemann-Pick disease type A |
77292 |
SMPD1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Niemann-Pick disease type B |
77293 |
SMPD1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
| Niemann-Pick Disease, Type A |
C0268242 |
SMPD1
|
Causal
Pathogenic evidence from ClinVar
|
1391960, 1618760, 1718266, 1840600, 1885770, 2023926, 7762557, 8053910, 8225311, 8401540, 8407868, 8499909, 8664904, 8680412, 8693491, 9266408, 10694919, 12369017, 12556236, 12607113, 12694237, 12712061, 14681755, 15221801, 15234149, 15241805, 15305357, 15545621, 15612058, 15877209, 16010684, 16151905, 16264060, 16434659, 16623786, 16642440, 17011332, 17360762, 17876723, 18052040, 18625664, 18815062, 19405096, 20386867, 21098024, 22796693, 22818240, 23188845, 23252888, 23356216, 23412609, 23430512, 23430884, 23430949, 23535491, 24446175, 24718843, 24767253, 25834946, 26084044, 26169695, 26499107, 26851525, 26913189, 27238910, 27338287, 27604308, 27725636, 28600779 |
ClinVar |
| Niemann-Pick Disease, Type B |
C0268243 |
SMPD1
|
Causal
Pathogenic evidence from ClinVar
|
1301192, 1391960, 1618760, 1885770, 2023926, 8051942, 8225311, 8401540, 8664904, 8680412, 9266408, 10694919, 12369017, 12556236, 12607113, 12694237, 12712061, 15221801, 15234149, 15241805, 15545621, 15877209, 16010684, 16472269, 16623786, 16642440, 17011332, 17876723, 18815062, 19050888, 19405096, 20386867, 21454466, 21502868, 21621718, 22613662, 22796693, 22818240, 23188845, 23252888, 23356216, 23430512, 24767253, 25920558, 26084044, 26499107, 26913189, 26981555, 27338287, 27604308, 27659707, 28600779 |
ClinVar |
| Niemann-Pick Disease, Type E |
C0268248 |
SMPD1
|
Causal
Pathogenic evidence from ClinVar
|
- |
ClinVar |
