CLN11
MCID: CRD166
MIFTS: 47

Ceroid Lipofuscinosis, Neuronal, 11 (CLN11)

Categories: Eye diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Ceroid Lipofuscinosis, Neuronal, 11

MalaCards integrated aliases for Ceroid Lipofuscinosis, Neuronal, 11:

Name: Ceroid Lipofuscinosis, Neuronal, 11 57 75 29 13 6 73
Cln11 57 12 75
Neuronal Ceroid Lipofuscinosis 11 12 15
Lipofuscinosis, Ceroid, Neuronal, Type 11 40
Cln11 Disease 59

Characteristics:

Orphanet epidemiological data:

59
cln11 disease
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
rapidly progressive
onset in early twenties
one italian family has been reported (last curated july 2012)


HPO:

32
ceroid lipofuscinosis, neuronal, 11:
Onset and clinical course rapidly progressive
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614706
Disease Ontology 12 DOID:0110732
ICD10 33 E75.4
Orphanet 59 ORPHA314629
ICD10 via Orphanet 34 E75.4
MeSH 44 D009472
UMLS 73 C3539123

Summaries for Ceroid Lipofuscinosis, Neuronal, 11

UniProtKB/Swiss-Prot : 75 Ceroid lipofuscinosis, neuronal, 11: A form of neuronal ceroid lipofuscinosis characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur. Neuronal ceroid lipofuscinoses are progressive neurodegenerative, lysosomal storage diseases characterized by intracellular accumulation of autofluorescent liposomal material.

MalaCards based summary : Ceroid Lipofuscinosis, Neuronal, 11, also known as cln11, is related to adult neuronal ceroid lipofuscinosis and cerebral atrophy, and has symptoms including seizures, ataxia and myoclonic seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 11 is GRN (Granulin Precursor), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Ion channel transport. The drugs Immunoglobulins and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include eye and cortex, and related phenotypes are ataxia and eeg abnormality

Disease Ontology : 12 A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has material basis in homozygous mutation in the GRN gene on chromosome 17q.

OMIM : 57 Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). (614706)

Related Diseases for Ceroid Lipofuscinosis, Neuronal, 11

Diseases in the Neuronal Ceroid Lipofuscinosis family:

Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant Ceroid Lipofuscinosis, Neuronal, 3
Ceroid Lipofuscinosis, Neuronal, 4a, Autosomal Recessive Ceroid Lipofuscinosis, Neuronal, 2
Ceroid Lipofuscinosis, Neuronal, 1 Ceroid Lipofuscinosis, Neuronal, 5
Ceroid Lipofuscinosis, Neuronal, 8 Ceroid Lipofuscinosis, Neuronal, 6
Ceroid Lipofuscinosis, Neuronal, 9 Ceroid Lipofuscinosis, Neuronal, 10
Ceroid Lipofuscinosis, Neuronal, 7 Ceroid Lipofuscinosis, Neuronal, 11
Ceroid Lipofuscinosis, Neuronal, 13 Adult Neuronal Ceroid Lipofuscinosis

Diseases related to Ceroid Lipofuscinosis, Neuronal, 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 42)
# Related Disease Score Top Affiliating Genes
1 adult neuronal ceroid lipofuscinosis 10.1 CLN6 DNAJC5 PPT1
2 cerebral atrophy 10.1 CLN6 MFSD8
3 ceroid lipofuscinosis, neuronal, 9 10.1 CLN5 CLN6 CLN8 DNAJC5
4 visual cortex disease 10.0 CLN8 MFSD8
5 ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant 10.0 CLN5 CLN6 CLN8 MFSD8
6 ceroid lipofuscinosis, neuronal, 13 10.0 CLN5 CLN8 CTSF DNAJC5 KCTD7
7 visual pathway disease 10.0 CLN8 MFSD8
8 inherited metabolic disorder 9.9 CLN3 ENSG00000261832 PPT1
9 ceroid lipofuscinosis, neuronal, 7 9.8 CLN3 CLN5 CLN6 CLN8 DNAJC5 MFSD8
10 ceroid lipofuscinosis, neuronal, 3 9.8 CLN3 CLN5 CLN6 CTSD PPT1
11 ceroid storage disease 9.8 CLN3 CLN5 CLN6 CLN8 DNAJC5 PPT1
12 ceroid lipofuscinosis, neuronal, 10 9.8 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
13 long qt syndrome 15 9.7 CALM1 CALM2 CALM3
14 long qt syndrome 1 9.7 CALM1 CALM2 CALM3
15 otomycosis 9.7 CALM1 CALM2 CALM3
16 external ear disease 9.7 CALM1 CALM2 CALM3
17 emery-dreifuss muscular dystrophy 5, autosomal dominant 9.7 CALM1 CALM2 CALM3
18 sporotrichosis 9.7 CALM1 CALM2 CALM3
19 lipid storage disease 9.7 CLN3 CLN5 CLN6 CLN8 ENSG00000261832 PPT1
20 otitis externa 9.7 CALM1 CALM2 CALM3
21 spontaneous ocular nystagmus 9.7 CALM1 CALM2 CALM3
22 deafness, autosomal recessive 44 9.7 CALM1 CALM2 CALM3
23 acute dacryocystitis 9.7 CALM1 CALM2 CALM3
24 dystonia 24 9.7 CALM1 CALM2 CALM3
25 gestational choriocarcinoma 9.7 CALM1 CALM2 CALM3
26 triosephosphate isomerase deficiency 9.7 CALM1 CALM2 CALM3
27 leber congenital amaurosis 2 9.7 CALM1 CALM2 CALM3
28 tinea unguium 9.7 CALM1 CALM2 CALM3
29 primary systemic mycosis 9.7 CALM1 CALM2 CALM3
30 clear cell acanthoma 9.7 CALM1 CALM2 CALM3
31 cardiomyopathy, dilated, 1a 9.7 CALM1 CALM2 CALM3
32 cardiomyopathy, dilated, 1p 9.7 CALM1 CALM2 CALM3
33 phaeohyphomycosis 9.6 CALM1 CALM2 CALM3
34 deafness, autosomal dominant 2a 9.6 CALM1 CALM2 CALM3
35 microcephaly 2, primary, autosomal recessive, with or without cortical malformations 9.6 CALM1 CALM2 CALM3
36 primary cutaneous amyloidosis 9.6 CALM1 CALM2 CALM3
37 catecholaminergic polymorphic ventricular tachycardia 9.6 CALM1 CALM2 CALM3
38 cardiac arrest 9.6 CALM1 CALM2 CALM3
39 ceroid lipofuscinosis, neuronal, 1 9.4 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5
40 neuronal ceroid-lipofuscinoses 9.3 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
41 ceroid lipofuscinosis, neuronal, 2 9.1 CLN3 CLN5 CLN6 CLN8 CTSD CTSF
42 neuronal ceroid lipofuscinosis 9.0 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD

Graphical network of the top 20 diseases related to Ceroid Lipofuscinosis, Neuronal, 11:



Diseases related to Ceroid Lipofuscinosis, Neuronal, 11

Symptoms & Phenotypes for Ceroid Lipofuscinosis, Neuronal, 11

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
cerebellar atrophy
myoclonic seizures
eeg abnormalities
more
Laboratory Abnormalities:
'fingerprint' profiles ultrastructurally

Head And Neck Eyes:
optic atrophy
retinal dystrophy
visual impairment, progressive


Clinical features from OMIM:

614706

Human phenotypes related to Ceroid Lipofuscinosis, Neuronal, 11:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 ataxia 32 HP:0001251
2 eeg abnormality 32 HP:0002353
3 visual impairment 32 HP:0000505
4 optic atrophy 32 HP:0000648
5 generalized myoclonic seizures 32 HP:0002123
6 mental deterioration 32 occasional (7.5%) HP:0001268
7 cerebellar atrophy 32 HP:0001272
8 retinal dystrophy 32 HP:0000556

UMLS symptoms related to Ceroid Lipofuscinosis, Neuronal, 11:


seizures, ataxia, myoclonic seizures

MGI Mouse Phenotypes related to Ceroid Lipofuscinosis, Neuronal, 11:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.96 ATP13A2 CLN3 CLN6 CLN8 CTSD CTSF
2 nervous system MP:0003631 9.9 ATP13A2 CLN3 CLN5 CLN6 CLN8 CTSD
3 pigmentation MP:0001186 9.35 ATP13A2 CLN8 GRN MFSD8 PPT1
4 vision/eye MP:0005391 9.28 CLN3 CLN5 CLN6 CLN8 CTSD DNAJC5

Drugs & Therapeutics for Ceroid Lipofuscinosis, Neuronal, 11

Drugs for Ceroid Lipofuscinosis, Neuronal, 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunoglobulins Phase 1, Phase 2
2 Immunologic Factors Phase 1, Phase 2
3 Antibodies Phase 1, Phase 2
4 Antibodies, Monoclonal Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I/II Study of CR011-vcMMAE in Subjects With Unresectable Stage III or Stage IV Melanoma Completed NCT00412828 Phase 1, Phase 2 CR011-vcMMAE

Search NIH Clinical Center for Ceroid Lipofuscinosis, Neuronal, 11

Genetic Tests for Ceroid Lipofuscinosis, Neuronal, 11

Genetic tests related to Ceroid Lipofuscinosis, Neuronal, 11:

# Genetic test Affiliating Genes
1 Ceroid Lipofuscinosis, Neuronal, 11 29 GRN

Anatomical Context for Ceroid Lipofuscinosis, Neuronal, 11

MalaCards organs/tissues related to Ceroid Lipofuscinosis, Neuronal, 11:

41
Eye, Cortex

Publications for Ceroid Lipofuscinosis, Neuronal, 11

Variations for Ceroid Lipofuscinosis, Neuronal, 11

ClinVar genetic disease variations for Ceroid Lipofuscinosis, Neuronal, 11:

6 (show all 40)
# Gene Variation Type Significance SNP ID Assembly Location
1 GRN NM_002087.3(GRN): c.813_816delCACT (p.Thr272Serfs) deletion Pathogenic rs63749877 GRCh37 Chromosome 17, 42428509: 42428512
2 GRN NM_002087.3(GRN): c.813_816delCACT (p.Thr272Serfs) deletion Pathogenic rs63749877 GRCh38 Chromosome 17, 44351141: 44351144
3 GRN NM_002087.3(GRN): c.*78C> T single nucleotide variant Benign rs5848 GRCh37 Chromosome 17, 42430244: 42430244
4 GRN NM_002087.3(GRN): c.*78C> T single nucleotide variant Benign rs5848 GRCh38 Chromosome 17, 44352876: 44352876
5 GRN NM_002087.3(GRN): c.55C> T (p.Arg19Trp) single nucleotide variant Benign/Likely benign rs63750723 GRCh37 Chromosome 17, 42426587: 42426587
6 GRN NM_002087.3(GRN): c.55C> T (p.Arg19Trp) single nucleotide variant Benign/Likely benign rs63750723 GRCh38 Chromosome 17, 44349219: 44349219
7 GRN NM_002087.3(GRN): c.359C> A (p.Ser120Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs63750043 GRCh37 Chromosome 17, 42427605: 42427605
8 GRN NM_002087.3(GRN): c.359C> A (p.Ser120Tyr) single nucleotide variant Conflicting interpretations of pathogenicity rs63750043 GRCh38 Chromosome 17, 44350237: 44350237
9 GRN NM_002087.3(GRN): c.709-2A> G single nucleotide variant Pathogenic rs63750548 GRCh37 Chromosome 17, 42428403: 42428403
10 GRN NM_002087.3(GRN): c.709-2A> G single nucleotide variant Pathogenic rs63750548 GRCh38 Chromosome 17, 44351035: 44351035
11 GRN NM_002087.3(GRN): c.836-1G> C single nucleotide variant Pathogenic rs63751296 GRCh37 Chromosome 17, 42428730: 42428730
12 GRN NM_002087.3(GRN): c.836-1G> C single nucleotide variant Pathogenic rs63751296 GRCh38 Chromosome 17, 44351362: 44351362
13 GRN NM_002087.3(GRN): c.933+1G> A single nucleotide variant Likely pathogenic rs63750707 GRCh37 Chromosome 17, 42428829: 42428829
14 GRN NM_002087.3(GRN): c.933+1G> A single nucleotide variant Likely pathogenic rs63750707 GRCh38 Chromosome 17, 44351461: 44351461
15 GRN NM_002087.3(GRN): c.970G> A (p.Ala324Thr) single nucleotide variant Uncertain significance rs63750541 GRCh37 Chromosome 17, 42428954: 42428954
16 GRN NM_002087.3(GRN): c.970G> A (p.Ala324Thr) single nucleotide variant Uncertain significance rs63750541 GRCh38 Chromosome 17, 44351586: 44351586
17 GRN NM_002087.3(GRN): c.1297C> T (p.Arg433Trp) single nucleotide variant Benign/Likely benign rs63750412 GRCh37 Chromosome 17, 42429500: 42429500
18 GRN NM_002087.3(GRN): c.1297C> T (p.Arg433Trp) single nucleotide variant Benign/Likely benign rs63750412 GRCh38 Chromosome 17, 44352132: 44352132
19 GRN NM_002087.3(GRN): c.1544G> C (p.Gly515Ala) single nucleotide variant Benign/Likely benign rs25647 GRCh37 Chromosome 17, 42429839: 42429839
20 GRN NM_002087.3(GRN): c.1544G> C (p.Gly515Ala) single nucleotide variant Benign/Likely benign rs25647 GRCh38 Chromosome 17, 44352471: 44352471
21 GRN NM_002087.3(GRN): c.264+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs60100877 GRCh37 Chromosome 17, 42426926: 42426926
22 GRN NM_002087.3(GRN): c.264+7G> A single nucleotide variant Conflicting interpretations of pathogenicity rs60100877 GRCh38 Chromosome 17, 44349558: 44349558
23 GRN NM_002087.3(GRN): c.835+7G> A single nucleotide variant Benign/Likely benign rs72824736 GRCh38 Chromosome 17, 44351170: 44351170
24 GRN NM_002087.3(GRN): c.835+7G> A single nucleotide variant Benign/Likely benign rs72824736 GRCh37 Chromosome 17, 42428538: 42428538
25 GRN NM_002087.3(GRN): c.1414-2A> G single nucleotide variant Pathogenic GRCh37 Chromosome 17, 42429707: 42429707
26 GRN NM_002087.3(GRN): c.1414-2A> G single nucleotide variant Pathogenic GRCh38 Chromosome 17, 44352339: 44352339
27 GRN NM_002087.3(GRN): c.933+7delA deletion Likely benign rs762910178 GRCh38 Chromosome 17, 44351467: 44351467
28 GRN NM_002087.3(GRN): c.933+7delA deletion Likely benign rs762910178 GRCh37 Chromosome 17, 42428835: 42428835
29 GRN NM_002087.3(GRN): c.513C> T (p.Cys171=) single nucleotide variant Likely benign rs147974849 GRCh38 Chromosome 17, 44350492: 44350492
30 GRN NM_002087.3(GRN): c.513C> T (p.Cys171=) single nucleotide variant Likely benign rs147974849 GRCh37 Chromosome 17, 42427860: 42427860
31 GRN NM_002087.3(GRN): c.1438C> T (p.His480Tyr) single nucleotide variant Likely pathogenic rs770058074 GRCh37 Chromosome 17, 42429733: 42429733
32 GRN NM_002087.3(GRN): c.1438C> T (p.His480Tyr) single nucleotide variant Likely pathogenic rs770058074 GRCh38 Chromosome 17, 44352365: 44352365
33 GRN NM_002087.3(GRN): c.80dup (p.Val28Cysfs) duplication Pathogenic GRCh38 Chromosome 17, 44349244: 44349244
34 GRN NM_002087.3(GRN): c.80dup (p.Val28Cysfs) duplication Pathogenic GRCh37 Chromosome 17, 42426612: 42426612
35 GRN NM_002087.3(GRN): c.139G> A (p.Asp47Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 44349426: 44349426
36 GRN NM_002087.3(GRN): c.139G> A (p.Asp47Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 42426794: 42426794
37 GRN NM_002087.3(GRN): c.808C> T (p.Leu270Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 17, 44351136: 44351136
38 GRN NM_002087.3(GRN): c.808C> T (p.Leu270Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 17, 42428504: 42428504
39 GRN NM_002087.3(GRN): c.991C> T (p.Gln331Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 17, 44351607: 44351607
40 GRN NM_002087.3(GRN): c.991C> T (p.Gln331Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 17, 42428975: 42428975

Expression for Ceroid Lipofuscinosis, Neuronal, 11

Search GEO for disease gene expression data for Ceroid Lipofuscinosis, Neuronal, 11.

Pathways for Ceroid Lipofuscinosis, Neuronal, 11

Pathways related to Ceroid Lipofuscinosis, Neuronal, 11 according to GeneCards Suite gene sharing:

(show all 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.36 CALM1 CALM2 CALM3 CTSD CTSF CTSL
2
Show member pathways
12.46 ATP13A2 CALM1 CALM2 CALM3
3 12.11 CALM1 CALM2 CALM3 CTSD
4 12 CALM1 CALM2 CALM3
5 11.98 CALM1 CALM2 CALM3 CTSL
6
Show member pathways
11.94 CALM1 CALM2 CALM3
7
Show member pathways
11.92 CALM1 CALM2 CALM3
8
Show member pathways
11.89 CALM1 CALM2 CALM3
9
Show member pathways
11.86 CALM1 CALM2 CALM3
10 11.85 CALM1 CALM2 CALM3
11 11.84 CTSD CTSF CTSL
12 11.84 CALM1 CALM2 CALM3
13 11.82 CALM1 CALM2 CALM3
14
Show member pathways
11.81 CALM1 CALM2 CALM3
15
Show member pathways
11.78 CALM1 CALM2 CALM3
16
Show member pathways
11.77 CALM1 CALM2 CALM3
17
Show member pathways
11.7 CALM1 CALM2 CALM3
18
Show member pathways
11.69 CALM1 CALM2 CALM3
19
Show member pathways
11.67 CALM1 CALM2 CALM3
20 11.67 CALM1 CALM2 CALM3
21
Show member pathways
11.66 CALM1 CALM2 CALM3
22 11.64 CALM1 CALM2 CALM3
23
Show member pathways
11.59 CALM1 CALM2 CALM3
24 11.57 CALM1 CALM2 CALM3
25 11.54 CALM1 CALM2 CALM3
26
Show member pathways
11.53 CALM1 CALM2 CALM3
27 11.48 CALM1 CALM2 CALM3
28 11.43 CALM1 CALM2 CALM3
29 11.26 CALM1 CALM2 CALM3
30 11.26 CLN3 CLN5 CTSD CTSF CTSL MFSD8
31 11.24 CALM1 CALM2 CALM3
32 11.21 CALM1 CALM2 CALM3
33 11.21 CALM1 CALM2 CALM3
34 11.17 CALM1 CALM2 CALM3
35 11.12 CALM1 CALM2 CALM3
36 11.07 CALM1 CALM2 CALM3
37 11.04 CALM1 CALM2 CALM3
38 11.01 CALM1 CALM2 CALM3
39 10.84 CALM1 CALM2 CALM3
40 10.71 CALM1 CALM2 CALM3
41 10.61 CALM1 CALM2 CALM3
42 10.25 CALM1 CALM2 CALM3

GO Terms for Ceroid Lipofuscinosis, Neuronal, 11

Cellular components related to Ceroid Lipofuscinosis, Neuronal, 11 according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.83 ATP13A2 CALM1 CALM3 CLN3 PPT1
2 lysosomal membrane GO:0005765 9.73 ATP13A2 CLN3 CLN5 DNAJC5 ENSG00000261832 MFSD8
3 vesicle GO:0031982 9.71 ATP13A2 CALM1 CALM2 CALM3
4 synaptic vesicle GO:0008021 9.67 CLN3 DNAJC5 PPT1
5 spindle pole GO:0000922 9.65 CALM1 CALM2 CALM3
6 sarcomere GO:0030017 9.63 CALM1 CALM2 CALM3
7 spindle microtubule GO:0005876 9.54 CALM1 CALM2 CALM3
8 calcium channel complex GO:0034704 9.5 CALM1 CALM2 CALM3
9 lysosomal lumen GO:0043202 9.35 ATP13A2 CTSD CTSF CTSL PPT1
10 catalytic complex GO:1902494 9.33 CALM1 CALM2 CALM3
11 lysosome GO:0005764 9.28 ATP13A2 CLN3 CLN5 CTSD CTSF CTSL

Biological processes related to Ceroid Lipofuscinosis, Neuronal, 11 according to GeneCards Suite gene sharing:

(show all 37)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of neuron apoptotic process GO:0043524 9.85 CLN3 DNAJC5 PPT1
2 antigen processing and presentation of exogenous peptide antigen via MHC class II GO:0019886 9.83 CTSD CTSF CTSL
3 calcium-mediated signaling GO:0019722 9.82 CALM1 CALM2 CALM3
4 response to calcium ion GO:0051592 9.8 CALM1 CALM2 CALM3
5 positive regulation of protein serine/threonine kinase activity GO:0071902 9.79 CALM1 CALM2 CALM3
6 substantia nigra development GO:0021762 9.79 CALM1 CALM2 CALM3
7 regulation of cytokinesis GO:0032465 9.78 CALM1 CALM2 CALM3
8 regulation of heart rate GO:0002027 9.77 CALM1 CALM2 CALM3
9 associative learning GO:0008306 9.77 CLN3 CLN8 PPT1
10 positive regulation of peptidyl-threonine phosphorylation GO:0010800 9.76 CALM1 CALM2 CALM3
11 positive regulation of protein dephosphorylation GO:0035307 9.74 CALM1 CALM2 CALM3
12 positive regulation of protein autophosphorylation GO:0031954 9.73 CALM1 CALM2 CALM3
13 regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion GO:0010881 9.72 CALM1 CALM2 CALM3
14 regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum GO:0010880 9.71 CALM1 CALM2 CALM3
15 regulation of cardiac muscle contraction GO:0055117 9.7 CALM1 CALM2 CALM3
16 negative regulation of peptidyl-threonine phosphorylation GO:0010801 9.69 CALM1 CALM2 CALM3
17 ceramide metabolic process GO:0006672 9.67 CLN3 CLN8
18 positive regulation of nitric-oxide synthase activity GO:0051000 9.67 CALM1 CALM3
19 positive regulation of phosphoprotein phosphatase activity GO:0032516 9.67 CALM1 CALM2 CALM3
20 response to corticosterone GO:0051412 9.66 CALM1 CALM3
21 cellular protein catabolic process GO:0044257 9.66 CLN8 PPT1
22 regulation of ryanodine-sensitive calcium-release channel activity GO:0060314 9.65 CALM1 CALM3
23 regulation of synaptic vesicle endocytosis GO:1900242 9.65 CALM1 CALM3
24 detection of calcium ion GO:0005513 9.65 CALM1 CALM2 CALM3
25 establishment of protein localization to membrane GO:0090150 9.64 CALM1 CALM3
26 cofactor metabolic process GO:0051186 9.63 CALM1 PPT1
27 negative regulation of ryanodine-sensitive calcium-release channel activity GO:0060315 9.63 CALM1 CALM2 CALM3
28 regulation of high voltage-gated calcium channel activity GO:1901841 9.62 CALM1 CALM3
29 positive regulation of ryanodine-sensitive calcium-release channel activity GO:0060316 9.61 CALM1 CALM2 CALM3
30 establishment of protein localization to mitochondrial membrane GO:0090151 9.58 CALM1 CALM3
31 regulation of cell communication by electrical coupling involved in cardiac conduction GO:1901844 9.58 CALM1 CALM2 CALM3
32 lysosome organization GO:0007040 9.55 CLN3 CLN6 CLN8 MFSD8 PPT1
33 positive regulation of cyclic-nucleotide phosphodiesterase activity GO:0051343 9.54 CALM1 CALM2 CALM3
34 cellular macromolecule catabolic process GO:0044265 9.5 CLN6 CLN8 PPT1
35 positive regulation by host of symbiont cAMP-mediated signal transduction GO:0075206 9.43 CALM1 CALM2 CALM3
36 lysosomal lumen acidification GO:0007042 9.26 CLN3 CLN5 CLN6 PPT1
37 protein catabolic process GO:0030163 9.1 CLN3 CLN5 CLN6 CLN8 CTSD PPT1

Molecular functions related to Ceroid Lipofuscinosis, Neuronal, 11 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 ion channel binding GO:0044325 9.7 CALM1 CALM2 CALM3
2 cysteine-type endopeptidase activity GO:0004197 9.67 CTSD CTSF CTSL
3 disordered domain specific binding GO:0097718 9.61 CALM1 CALM2 CALM3
4 protein serine/threonine kinase activator activity GO:0043539 9.58 CALM1 CALM2 CALM3
5 phosphatidylinositol 3-kinase binding GO:0043548 9.54 CALM1 CALM3
6 nitric-oxide synthase binding GO:0050998 9.51 CALM1 CALM3
7 titin binding GO:0031432 9.5 CALM1 CALM2 CALM3
8 calcium channel inhibitor activity GO:0019855 9.48 CALM1 CALM2
9 nitric-oxide synthase regulator activity GO:0030235 9.46 CALM1 CALM3
10 adenylate cyclase binding GO:0008179 9.43 CALM1 CALM2 CALM3
11 type 3 metabotropic glutamate receptor binding GO:0031800 9.37 CALM1 CALM3
12 protein phosphatase activator activity GO:0072542 9.33 CALM1 CALM2 CALM3
13 adenylate cyclase activator activity GO:0010856 9.13 CALM1 CALM2 CALM3
14 N-terminal myristoylation domain binding GO:0031997 8.8 CALM1 CALM2 CALM3

Sources for Ceroid Lipofuscinosis, Neuronal, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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