NPC1
MCID: NMN004
MIFTS: 47

Niemann-Pick Disease Type C1 (NPC1) malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Immune diseases categories

Summaries for Niemann-Pick Disease Type C1

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48OMIM, 34MalaCards
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MalaCards: Niemann-Pick Disease Type C1, also known as niemann-pick disease, type c, is related to niemann-pick disease and neuronitis, and has symptoms including hepatomegaly/liver enlargement (excluding storage disease), splenomegaly and psychic/behavioural troubles. An important gene associated with Niemann-Pick Disease Type C1 is NPC1 (Niemann-Pick disease, type C1). Affiliated tissues include eye, liver and cerebellum.

Description from OMIM:48 257220,607625

Aliases & Classifications for Niemann-Pick Disease Type C1

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Sources:
50Orphanet, 44NIH Rare Diseases, 63UMLS, 21GeneTests, 23GTR, 48OMIM, 60SNOMED-CT via Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
niemann-pick disease type c:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable


Aliases & Descriptions:

niemann-pick disease type c1 44 21 23
niemann-pick disease, type c 44 63
neurovisceral storage disease with vertical supranuclear ophthalmoplegia 44
niemann-pick disease with cholesterol esterification block 44
niemann-pick disease, chronic neuronopathic form 44
niemann-pick disease, subacute juvenile form 44
niemann-pick disease, type c1 48
niemann-pick disease, type a 63
niemann-pick disease, type d 63
niemann-pick disease type c 50
npc1 44


External Ids:

SNOMED-CT via Orphanet60 18927009, 66751000
MESH via Orphanet37 D052556
ICD10 via Orphanet27 E75.2
UMLS via Orphanet64 C0220756

Related Diseases for Niemann-Pick Disease Type C1

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Niemann-Pick Disease Type C1:



Diseases related to niemann-pick disease type c1

Symptoms for Niemann-Pick Disease Type C1

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

257220

Clinical features from OMIM:

257220,607625

Symptoms:

50 (show all 20)
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • psychic/behavioural troubles
  • absent/hypotonic/flaccid abdominal wall muscles
  • ascitis
  • hepatitis/icterus/cholestasis
  • dystonia/torticollis/writer's cramp/blepharospasms
  • psychic/psychomotor regression/dementia/intellectual decline
  • chorea/athetosis/choreoathetosis/choreic syndrome
  • motor deficit/trouble
  • pyramidal syndrome
  • seizures/epilepsy/absences/spasms/status epilepticus
  • sleep and vigilance disorders
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • tremor
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • autosomal recessive inheritance

Drugs & Therapeutics for Niemann-Pick Disease Type C1

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Niemann-Pick Disease Type C1

Drug clinical trials:

Search ClinicalTrials for Niemann-Pick Disease Type C1

Search NIH Clinical Center for Niemann-Pick Disease Type C1

Search CenterWatch for Niemann-Pick Disease Type C1

Genetic Tests for Niemann-Pick Disease Type C1

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21GeneTests, 23GTR
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Genetic tests related to Niemann-Pick Disease Type C1:

id Genetic test Affiliating Genes
1 Niemann-Pick Disease Type C121 23 NPC1

Anatomical Context for Niemann-Pick Disease Type C1

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34MalaCards
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MalaCards organs/tissues related to Niemann-Pick Disease Type C1:

34
Eye, Liver, Cerebellum, Lung

Animal Models for Niemann-Pick Disease Type C1 or affiliated genes

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Publications for Niemann-Pick Disease Type C1

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Sources:
53PubMed
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Articles related to Niemann-Pick Disease Type C1:

(show all 16)
idTitleAuthorsYear
1
Auditory phenotype of niemann-pick disease, type c1. (24225652)
2014
2
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1. (23653225)
2014
3
Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: An autopsy case. (23711246)
2014
4
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1. (24235134)
2014
5
Altered transition metal homeostasis in Niemann-Pick disease, type C1. (24343124)
2013
6
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish. (23010472)
2013
7
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1. (23666527)
2013
8
Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight. (23144710)
2012
9
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1. (22619379)
2012
10
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1. (23023945)
2012
11
Morphological alterations of the cornea in the mouse model of niemann-pick disease type c1. (21317782)
2011
12
Niemann-Pick disease type C1 presenting with psychosis in an adolescent male. (19267177)
2009
13
Beneficial effects of anti-inflammatory therapy in a mouse model of Niemann-Pick disease type C1. (19632328)
2009
14
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium. (18953351)
2008
15
Chemical synthesis of the 3-sulfooxy-7-N-acetylglucosaminyl-24-amidated conjugates of 3beta,7beta-dihydroxy-5-cholen-24-oic acid, and related compounds: unusual, major metabolites of bile acid in a patient with Niemann-Pick disease type C1. (16197972)
2006
16
Lung involvement in Niemann-Pick disease type C1: improvement with bronchoalveolar lavage. (16086131)
2005

Variations for Niemann-Pick Disease Type C1

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Niemann-Pick Disease Type C1:

65 (show all 151)
id Symbol AA change Variation ID SNP ID
1NPC1p.Cys177GlyVAR_008815
2NPC1p.Pro237SerVAR_008817rs80358251
3NPC1p.Ser473ProVAR_008820
4NPC1p.His510ProVAR_008821
5NPC1p.Arg518GlnVAR_008822
6NPC1p.Val889MetVAR_008826
7NPC1p.Gln928ProVAR_008827rs28940897
8NPC1p.Arg934GlnVAR_008828
9NPC1p.Ser940LeuVAR_008829
10NPC1p.Asp948AsnVAR_008830
11NPC1p.Ser954LeuVAR_008831
12NPC1p.Cys956TyrVAR_008832
13NPC1p.Gly992TrpVAR_008833
14NPC1p.Pro1007AlaVAR_008834
15NPC1p.Thr1036MetVAR_008835rs28942104
16NPC1p.Ile1061ThrVAR_008836
17NPC1p.Tyr1088CysVAR_008837rs28942106
18NPC1p.Asn1156SerVAR_008838rs28942105
19NPC1p.Phe1167LeuVAR_008839
20NPC1p.Arg1186HisVAR_008840rs200444084
21NPC1p.Leu1213PheVAR_008841
22NPC1p.Leu1213ValVAR_008842
23NPC1p.Cys177TyrVAR_015561
24NPC1p.Val378AlaVAR_015562
25NPC1p.Val950MetVAR_015563
26NPC1p.Arg958GlnVAR_015564
27NPC1p.Arg978CysVAR_015565rs28942108
28NPC1p.Gly992ArgVAR_015566
29NPC1p.Ala1035ValVAR_015567rs28942107
30NPC1p.Cys63ArgVAR_043172
31NPC1p.Cys74TyrVAR_043173
32NPC1p.Gln92ArgVAR_043174
33NPC1p.Cys113ArgVAR_043175
34NPC1p.Thr137MetVAR_043176
35NPC1p.Pro166SerVAR_043178
36NPC1p.Asn222SerVAR_043179rs55680026
37NPC1p.Val231GlyVAR_043180
38NPC1p.Asp242HisVAR_043181
39NPC1p.Asp242AsnVAR_043182
40NPC1p.Cys247TyrVAR_043183
41NPC1p.Gly248ValVAR_043184
42NPC1p.Met272ArgVAR_043185
43NPC1p.Arg372TrpVAR_043187
44NPC1p.Leu380PheVAR_043188
45NPC1p.Ala388ProVAR_043190
46NPC1p.Arg389CysVAR_043191
47NPC1p.Pro401ThrVAR_043192
48NPC1p.Arg404ProVAR_043193
49NPC1p.Arg404GlnVAR_043194
50NPC1p.Arg404TrpVAR_043195
51NPC1p.Pro433LeuVAR_043196
52NPC1p.Pro434LeuVAR_043197
53NPC1p.Glu451LysVAR_043199
54NPC1p.Pro474LeuVAR_043200
55NPC1p.Cys479TyrVAR_043201
56NPC1p.Tyr509SerVAR_043202
57NPC1p.His512ArgVAR_043204
58NPC1p.Arg518TrpVAR_043205
59NPC1p.Ala521SerVAR_043206
60NPC1p.Phe537LeuVAR_043207
61NPC1p.Pro543LeuVAR_043208
62NPC1p.Thr574LysVAR_043209
63NPC1p.Lys576ArgVAR_043210
64NPC1p.Ala605ValVAR_043211
65NPC1p.Glu612AspVAR_043212
66NPC1p.Arg615CysVAR_043213
67NPC1p.Arg615LeuVAR_043214
68NPC1p.Met631ArgVAR_043215
69NPC1p.Gly640ArgVAR_043216
70NPC1p.Ser652TrpVAR_043217
71NPC1p.Gly660SerVAR_043218
72NPC1p.Val664MetVAR_043219
73NPC1p.Ser666AsnVAR_043220
74NPC1p.Cys670TrpVAR_043221
75NPC1p.Gly673ValVAR_043222
76NPC1p.Leu684PheVAR_043223
77NPC1p.Pro691LeuVAR_043224
78NPC1p.Leu695ValVAR_043225
79NPC1p.Asp700AsnVAR_043226
80NPC1p.Phe703SerVAR_043227
81NPC1p.Leu724ProVAR_043228
82NPC1p.Val727PheVAR_043229
83NPC1p.Ser734IleVAR_043230
84NPC1p.Glu742LysVAR_043231
85NPC1p.Ala745GluVAR_043232
86NPC1p.Met754LysVAR_043233
87NPC1p.Phe763LeuVAR_043234
88NPC1p.Ala767ValVAR_043235
89NPC1p.Gln775ProVAR_043236
90NPC1p.Arg789CysVAR_043237
91NPC1p.Arg789GlyVAR_043238
92NPC1p.Tyr825CysVAR_043239
93NPC1p.Ser849IleVAR_043240
94NPC1p.Gln862LeuVAR_043241
95NPC1p.Ser865LeuVAR_043242
96NPC1p.Tyr871CysVAR_043243
97NPC1p.Asp874ValVAR_043245
98NPC1p.Pro888SerVAR_043246
99NPC1p.Tyr890CysVAR_043247
100NPC1p.Tyr899AspVAR_043248
101NPC1p.Gly910SerVAR_043249
102NPC1p.Asp917TyrVAR_043250
103NPC1p.Ala926ThrVAR_043251
104NPC1p.Ala927ValVAR_043252
105NPC1p.Leu929ProVAR_043253
106NPC1p.Trp942CysVAR_043254
107NPC1p.Ile943MetVAR_043255
108NPC1p.Asp944AsnVAR_043256
109NPC1p.Asp945AsnVAR_043257
110NPC1p.Asp948HisVAR_043258
111NPC1p.Asp948TyrVAR_043259
112NPC1p.Arg958LeuVAR_043260
113NPC1p.Val959GluVAR_043261
114NPC1p.Asn961SerVAR_043263rs34084984
115NPC1p.Asn968SerVAR_043264
116NPC1p.Cys976ArgVAR_043266
117NPC1p.Gly986SerVAR_043267
118NPC1p.Gly992AlaVAR_043268
119NPC1p.Met996ArgVAR_043269
120NPC1p.Ser1004LeuVAR_043270
121NPC1p.Gly1012AspVAR_043271
122NPC1p.Gly1015ValVAR_043272
123NPC1p.His1016ArgVAR_043273
124NPC1p.Val1023GlyVAR_043274
125NPC1p.Gly1034ArgVAR_043275
126NPC1p.Thr1036LysVAR_043276
127NPC1p.Ala1054ThrVAR_043278
128NPC1p.Arg1059GlnVAR_043279
129NPC1p.Ala1062ValVAR_043280
130NPC1p.Thr1066AsnVAR_043281
131NPC1p.Phe1087LeuVAR_043282
132NPC1p.Glu1089LysVAR_043283
133NPC1p.Ile1094ThrVAR_043284
134NPC1p.Asp1097AsnVAR_043285
135NPC1p.Asn1137IleVAR_043286
136NPC1p.Gly1140ValVAR_043287
137NPC1p.Met1142ThrVAR_043288
138NPC1p.Asn1150LysVAR_043289
139NPC1p.Asn1156IleVAR_043290rs28942105
140NPC1p.Val1165MetVAR_043291
141NPC1p.Cys1168TyrVAR_043292
142NPC1p.Ala1174ValVAR_043293
143NPC1p.Glu1189GlyVAR_043294
144NPC1p.Thr1205LysVAR_043295
145NPC1p.Thr1205ArgVAR_043296
146NPC1p.Val1212LeuVAR_043297
147NPC1p.Ala1216ValVAR_043298
148NPC1p.Phe1224LeuVAR_043299
149NPC1p.Gly1236GluVAR_043300
150NPC1p.Gly1240ArgVAR_043301
151NPC1p.Ser1249GlyVAR_043302

Clinvar genetic disease variations for Niemann-Pick Disease Type C1:

1 (show all 44)
id Gene Name Type Significance SNP ID Assembly Location
1NPC1NM_000271.4(NPC1): c.1030delT (p.Ser344Leufs)deletionPathogenicrs483352883GRCh38Chr 18, 23556539: 23556539
2NPC1NM_000271.4(NPC1): c.1502A> T (p.Asp501Val)single nucleotide variantPathogenicrs483352885GRCh38Chr 18, 23554809: 23554809
3NPC1NM_000271.4(NPC1): c.1553G> A (p.Arg518Gln)single nucleotide variantPathogenicrs483352886GRCh38Chr 18, 23554758: 23554758
4NPC1NM_000271.4(NPC1): c.1800delC (p.Ile601Phefs)deletionPathogenicrs483352879GRCh38Chr 18, 23545107: 23545107
5NPC1NM_000271.4(NPC1): c.1832A> G (p.Asp611Gly)single nucleotide variantPathogenicrs483352887GRCh38Chr 18, 23545075: 23545075
6NPC1NM_000271.4(NPC1): c.2054T> C (p.Ile685Thr)single nucleotide variantPathogenicrs483352888GRCh38Chr 18, 23544420: 23544420
7NPC1NM_000271.4(NPC1): c.2128C> T (p.Gln710Ter)single nucleotide variantPathogenicrs483352889GRCh38Chr 18, 23544346: 23544346
8NPC1NM_000271.4(NPC1): c.2177G> C (p.Arg726Thr)single nucleotide variantPathogenicrs483352890GRCh38Chr 18, 23543523: 23543523
9NPC1NM_000271.4(NPC1): c.2230_2231delGT (p.Val744Serfs)deletionPathogenicrs483352882GRCh38Chr 18, 23543469: 23543470
10NPC1NM_000271.4(NPC1): c.2302dupG (p.Val768Glyfs)duplicationPathogenicrs483352881GRCh38Chr 18, 23541377: 23541377
11NPC1NM_000271.4(NPC1): c.2366G> A (p.Arg789His)single nucleotide variantPathogenicrs483352891GRCh38Chr 18, 23541313: 23541313
12NPC1NM_000271.4(NPC1): c.2795dupA (p.Tyr932Terfs)duplicationPathogenicrs483352884GRCh38Chr 18, 23539811: 23539811
13NPC1NM_000271.4(NPC1): c.2912-3C> Gsingle nucleotide variantPathogenicrs483352892GRCh38Chr 18, 23538674: 23538674
14NPC1NM_000271.4(NPC1): c.416dupC (p.Asn140Lysfs)duplicationPathogenicrs483352880GRCh38Chr 18, 23568870: 23568870
15NPC1NM_000271.4(NPC1): c.2324A> C (p.Gln775Pro)single nucleotide variantPathogenicrs80358253GRCh37Chr 18, 21121319: 21121319
16NPC1NM_000271.4(NPC1): c.2974G> A (p.Gly992Arg)single nucleotide variantPathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
17NPC1NM_000271.4(NPC1): c.3160G> A (p.Ala1054Thr)single nucleotide variantPathogenicrs80358258GRCh37Chr 18, 21116722: 21116722
18NPC1NM_000271.4(NPC1): c.2783A> C (p.Gln928Pro)single nucleotide variantPathogenicrs28940897GRCh37Chr 18, 21119787: 21119787
19NPC1NM_000271.4(NPC1): c.3107C> T (p.Thr1036Met)single nucleotide variantPathogenicrs28942104GRCh37Chr 18, 21116775: 21116775
20NPC1NM_000271.4(NPC1): c.3467A> G (p.Asn1156Ser)single nucleotide variantPathogenicrs28942105GRCh37Chr 18, 21115443: 21115443
21NPC1NM_000271.4(NPC1): c.2974G> T (p.Gly992Trp)single nucleotide variantPathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
22NPC1NPC1, 1553G-Asingle nucleotide variantPathogenic
23NPC1NM_000271.4(NPC1): c.3019C> G (p.Pro1007Ala)single nucleotide variantPathogenicrs80358257GRCh37Chr 18, 21118528: 21118528
24NPC1NM_000271.4(NPC1): c.3182T> C (p.Ile1061Thr)single nucleotide variantPathogenicrs80358259GRCh37Chr 18, 21116700: 21116700
25NPC1NM_000271.4(NPC1): c.2873G> A (p.Arg958Gln)single nucleotide variantPathogenicrs120074132GRCh37Chr 18, 21119357: 21119357
26NPC1NM_000271.4(NPC1): c.2974G> C (p.Gly992Arg)single nucleotide variantPathogenicrs80358254GRCh37Chr 18, 21118573: 21118573
27NPC1NM_000271.4(NPC1): c.1133T> C (p.Val378Ala)single nucleotide variantPathogenicrs120074134GRCh37Chr 18, 21136400: 21136400
28NPC1NM_000271.4(NPC1): c.2848G> A (p.Val950Met)single nucleotide variantPathogenicrs120074135GRCh37Chr 18, 21119382: 21119382
29NPC1NM_000271.4(NPC1): c.3104C> T (p.Ala1035Val)single nucleotide variantPathogenicrs28942107GRCh37Chr 18, 21116778: 21116778
30NPC1NPC1, IVS23, G-A, +1single nucleotide variantPathogenic
31NPC1NM_000271.4(NPC1): c.530G> A (p.Cys177Tyr)single nucleotide variantPathogenicrs80358252GRCh37Chr 18, 21141425: 21141425
32NPC1NPC1, IVS16, G-A, -82single nucleotide variantPathogenic
33NPC1NM_000271.4(NPC1): c.2932C> T (p.Arg978Cys)single nucleotide variantPathogenicrs28942108GRCh37Chr 18, 21118615: 21118615
34NPC1NPC1, 1-BP DEL, 3662TdeletionPathogenic
35NPC1NM_000271.4(NPC1): c.337T> C (p.Cys113Arg)single nucleotide variantPathogenicrs120074136GRCh37Chr 18, 21148913: 21148913
36NPC1NPC1, 4-BP DEL, 3611-3614deletionPathogenic
37SMPD1NM_000543.4(SMPD1): c.1493G> T (p.Arg498Leu)single nucleotide variantPathogenicrs120074117GRCh37Chr 11, 6415434: 6415434
38SMPD1NM_000543.4(SMPD1): c.1735G> A (p.Gly579Ser)single nucleotide variantPathogenicrs120074119GRCh37Chr 11, 6415676: 6415676
39SMPD1NM_000543.4(SMPD1): c.788T> A (p.Leu263Ter)single nucleotide variantPathogenicrs120074120GRCh37Chr 11, 6413083: 6413083
40SMPD1NM_000543.4(SMPD1): c.1152G> A (p.Met384Ile)single nucleotide variantPathogenicrs120074121GRCh37Chr 11, 6414506: 6414506
41SMPD1NM_000543.4(SMPD1): c.911T> C (p.Leu304Pro)single nucleotide variantPathogenicrs120074124GRCh37Chr 11, 6413206: 6413206
42SMPD1NM_000543.4(SMPD1): c.996delC (p.Phe333Serfs)deletionPathogenicrs387906289GRCh37Chr 11, 6413291: 6413291
43SMPD1NM_000543.4(SMPD1): c.1451C> A (p.Ala484Glu)single nucleotide variantPathogenicrs267607075GRCh37Chr 11, 6415236: 6415236
44SMPD1NM_000543.4(SMPD1): c.1406A> C (p.Tyr469Ser)single nucleotide variantPathogenicrs267607074GRCh37Chr 11, 6415191: 6415191

Expression for genes affiliated with Niemann-Pick Disease Type C1

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Niemann-Pick Disease Type C1

Search GEO for disease gene expression data for Niemann-Pick Disease Type C1.

Pathways for genes affiliated with Niemann-Pick Disease Type C1

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Compounds for genes affiliated with Niemann-Pick Disease Type C1

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GO Terms for genes affiliated with Niemann-Pick Disease Type C1

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Products for genes affiliated with Niemann-Pick Disease Type C1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Niemann-Pick Disease Type C1

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet