NBIA6
MCID: NRD016
MIFTS: 48

Neurodegeneration with Brain Iron Accumulation 6 (NBIA6)

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

Aliases & Classifications for Neurodegeneration with Brain Iron Accumulation 6

MalaCards integrated aliases for Neurodegeneration with Brain Iron Accumulation 6:

Name: Neurodegeneration with Brain Iron Accumulation 6 57 12 74 29 6 15 72
Nbia6 57 12 59 74
Neurodegeneration with Brain Iron Accumulation Due to Coasy Mutation 12 59
Copan 12 59
Neurodegeneration, with Brain Iron Accumulation, Type 6 40
Coasy Protein-Associated Neurodegeneration 59

Characteristics:

Orphanet epidemiological data:

59
coasy protein-associated neurodegeneration
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
progressive disorder
onset in infancy or early childhood
three unrelated families have been reported (last curated january 2019)
gait difficulties and beginning of cognitive decline in first decade
loss of independent ambulation in the second decade


HPO:

32
neurodegeneration with brain iron accumulation 6:
Inheritance autosomal recessive inheritance
Onset and clinical course progressive


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110740
ICD10 33 G23.0
ICD10 via Orphanet 34 G23.0
Orphanet 59 ORPHA397725
UMLS 72 C3810230

Summaries for Neurodegeneration with Brain Iron Accumulation 6

OMIM : 57 Neurodegeneration with brain iron accumulation refers to a group of neurodegenerative disorders characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism. Brain imaging shows iron accumulation in the basal ganglia (summary by Dusi et al., 2014). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200). (615643)

MalaCards based summary : Neurodegeneration with Brain Iron Accumulation 6, also known as nbia6, is related to neurodegeneration with brain iron accumulation and neurodegeneration with brain iron accumulation 1, and has symptoms including oromandibular dystonia, bradykinesia and muscle rigidity. An important gene associated with Neurodegeneration with Brain Iron Accumulation 6 is COASY (Coenzyme A Synthase), and among its related pathways/superpathways is Pantothenate and CoA biosynthesis. The drugs Racepinephrine and Formaldehyde have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and skin, and related phenotypes are pes cavus and dysarthria

Disease Ontology : 12 A neurodegeneration with brain iron accumulation that has material basis in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2.

UniProtKB/Swiss-Prot : 74 Neurodegeneration with brain iron accumulation 6: A neurodegenerative disorder associated with iron accumulation in the brain, primarily in the basal ganglia. It is characterized by progressive motor and cognitive dysfunction beginning in childhood or young adulthood. Patients show extrapyramidal motor signs, such as spasticity, dystonia, and parkinsonism.

Related Diseases for Neurodegeneration with Brain Iron Accumulation 6

Diseases in the Neurodegeneration with Brain Iron Accumulation family:

Neurodegeneration with Brain Iron Accumulation 1 Neurodegeneration with Brain Iron Accumulation 2a
Neurodegeneration with Brain Iron Accumulation 5 Neurodegeneration with Brain Iron Accumulation 3
Neurodegeneration with Brain Iron Accumulation 2b Neurodegeneration with Brain Iron Accumulation 4
Neurodegeneration with Brain Iron Accumulation 6 Neurodegeneration with Brain Iron Accumulation 7
Neurodegeneration with Brain Iron Accumulation 8

Diseases related to Neurodegeneration with Brain Iron Accumulation 6 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 neurodegeneration with brain iron accumulation 29.2 VPS13A PLA2G6 PANK2 COASY C19orf12
2 neurodegeneration with brain iron accumulation 1 29.2 VPS13A PLA2G6 PANK2 COASY C19orf12
3 coasy protein-associated neurodegeneration 11.9
4 48,xyyy 10.3
5 meester-loeys syndrome 10.1
6 alacrima, achalasia, and mental retardation syndrome 10.1
7 bone disease 10.1
8 chlamydia 10.1
9 axonal neuropathy 10.1
10 herpes simplex 10.1
11 haemophilus influenzae 10.1
12 spasticity 10.1
13 overgrowth syndrome 10.1
14 neurodegeneration with brain iron accumulation 2a 10.1 PLA2G6 PANK2
15 kufor-rakeb syndrome 10.0 PLA2G6 PANK2
16 neuroaxonal dystrophy 9.9 PLA2G6 PANK2
17 neurodegeneration with brain iron accumulation 4 9.9 PLA2G6 PANK2 C19orf12
18 parkinson disease 15, autosomal recessive early-onset 9.8 PLA2G6 PANK2 C19orf12
19 leukodystrophy, hypomyelinating, 2 9.8 VPS13A PANK2
20 neurodegeneration with brain iron accumulation 5 9.7 PLA2G6 PANK2 COASY C19orf12
21 neurodegeneration with brain iron accumulation 2b 9.7 PLA2G6 PLA2G1B PANK2
22 neurodegeneration with brain iron accumulation 3 9.6 PLA2G6 PANK2 DCAF17 C19orf12

Graphical network of the top 20 diseases related to Neurodegeneration with Brain Iron Accumulation 6:



Diseases related to Neurodegeneration with Brain Iron Accumulation 6

Symptoms & Phenotypes for Neurodegeneration with Brain Iron Accumulation 6

Human phenotypes related to Neurodegeneration with Brain Iron Accumulation 6:

32 59 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pes cavus 32 occasional (7.5%) HP:0001761
2 dysarthria 59 32 Very frequent (99-80%) HP:0001260
3 obsessive-compulsive behavior 59 32 Very frequent (99-80%) HP:0000722
4 oromandibular dystonia 59 32 Very frequent (99-80%) HP:0012048
5 spastic paraparesis 59 32 Very frequent (99-80%) HP:0002313
6 depressivity 32 HP:0000716
7 developmental regression 32 HP:0002376
8 global developmental delay 32 HP:0001263
9 cognitive impairment 59 Very frequent (99-80%)
10 spastic tetraplegia 32 HP:0002510
11 motor axonal neuropathy 32 HP:0007002
12 toe walking 32 HP:0040083
13 rigidity 32 HP:0002063
14 neurodegeneration 32 HP:0002180
15 mental deterioration 32 HP:0001268
16 difficulty walking 59 Very frequent (99-80%)
17 hyporeflexia 32 HP:0001265
18 bradykinesia 32 HP:0002067
19 distal amyotrophy 32 HP:0003693
20 hypoplasia of the corpus callosum 32 HP:0002079
21 peripheral axonal neuropathy 59 Very frequent (99-80%)
22 parkinsonism 59 Very frequent (99-80%)
23 abnormal corpus striatum morphology 59 Very frequent (99-80%)
24 abnormality of thalamus morphology 59 Very frequent (99-80%)
25 abnormal caudate nucleus morphology 59 Very frequent (99-80%)
26 eye of the tiger anomaly of globus pallidus 59 Very frequent (99-80%)
27 abnormal globus pallidus morphology 59 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
dysarthria
global developmental delay
spastic tetraplegia
dystonia
rigidity
more
Muscle Soft Tissue:
distal amyotrophy

Skeletal Feet:
pes cavus (1 patient)

Neurologic Peripheral Nervous System:
motor axonal neuropathy
hyporeflexia

Neurologic Behavioral Psychiatric Manifestations:
depression
obsessive-compulsive disorder

Clinical features from OMIM:

615643

UMLS symptoms related to Neurodegeneration with Brain Iron Accumulation 6:


oromandibular dystonia, bradykinesia, muscle rigidity, paraparesis, spastic

Drugs & Therapeutics for Neurodegeneration with Brain Iron Accumulation 6

Drugs for Neurodegeneration with Brain Iron Accumulation 6 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Racepinephrine Approved Phase 4 329-65-7 838
2
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
3
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
4 Pharmaceutical Solutions Phase 4
5 Epinephryl borate Phase 4
6 Vasoconstrictor Agents Phase 4
7
Ethanol Approved Phase 2, Phase 3 64-17-5 702
8 Disinfectants Phase 2, Phase 3
9 Anti-Infective Agents Phase 2, Phase 3
10 Chlorhexidine gluconate Phase 2, Phase 3
11 Anti-Infective Agents, Local Phase 2, Phase 3
12 Dermatologic Agents Phase 2, Phase 3
13
Povidone Approved Early Phase 1 9003-39-8
14
Povidone-iodine Approved Early Phase 1 25655-41-8
15
Iodine Approved, Investigational Early Phase 1 7553-56-2 807
16 Immunologic Factors
17 Micronutrients Early Phase 1
18 Anti-Bacterial Agents Early Phase 1
19 Nutrients Early Phase 1
20 Trace Elements Early Phase 1
21 cadexomer iodine Early Phase 1
22 Vaccines

Interventional clinical trials:

(show all 16)
# Name Status NCT ID Phase Drugs
1 Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Recruiting NCT02951559 Phase 4
2 Comparison Between the Sensibility of the Flocked Swab and the Traditional Fiber Swab for the Diagnosis of the Herpes Simplex Epithelial Keratitis Terminated NCT02045082 Phase 4
3 Human Papillomavirus DNA Testing Using Self-collected Samples for Cervical Cancer Screening: an Alternative Strategy for Unscreened Women? Completed NCT01014026 Phase 3
4 The Effect of Preheated Skin Disinfection in Relation to Room-temperature Skin Disinfection on Bacterial Colonization During Pace Device Implantation: a Randomized Controlled Non-inferiority Trial. Completed NCT02260479 Phase 2, Phase 3
5 Comparison of Nylon Flocked Swabs and Saline Aspirates for Detection Respiratory Viruses Unknown status NCT00613184
6 Comparison of Immunochromatographic Test for Rapid Detection of Group A Streptococcal Antigen With Culture in Pediatric Patients Completed NCT02494219
7 PNA FISH, PCR and Gram Staining for Detection of Bacterial Vaginosis - a Comparative Clinical Study in a Danish IVF Setting Completed NCT02042352
8 Impact of HPV Vaccine On The Prevalence Of Human Papillomavirus In Mouth And Vagina In Norway Completed NCT02934724
9 Danish Title: Afprøvning af indføringsrør Til Forureningsfri Podning af næsens Bihuler (Den Forureningsfri Podepind) Completed NCT02924103
10 What is the Best Skin Preparation Solution for Labour Epidural Analgesia? A Randomized Prospective Trial Comparing ChloraprepTM, DuraprepTM, and Chlorhexidine 0.5% in 70% Alcohol. Completed NCT00247897 Skin antisepsis
11 Randomized Evaluation of Live Attenuated vs.Trivalent Inactivated Influenza Vaccines in Schools (RELATIVES)Pilot Study Completed NCT01995851
12 Patient Comfort and Antimicrobial Efficacy With Aqueous Chlorhexidine Versus Povidine-Iodine (Betadine) as Ocular Surface Disinfectant Prior to Intravitreal Injection Recruiting NCT03571100 Early Phase 1 Chlorhexidine;Povidine-Iodine
13 Comparison of the Gut Microbiota Composition in Caucasian Hispanic and Caucasian Non-Hispanic Children With and Without Obesity Recruiting NCT03990350
14 Randomized Controlled Trial of Social Network Targeting to Magnify Population-Level MNCH Behavior Change in Honduras Active, not recruiting NCT02694679
15 Acceptability and Efficacy of Self-sampling for Cervical Cancer Screening: A Pilot Study Not yet recruiting NCT03813576
16 opTImisation of Methods for a Human INfection Model for Group B Streptococcus Not yet recruiting NCT04059510

Search NIH Clinical Center for Neurodegeneration with Brain Iron Accumulation 6

Genetic Tests for Neurodegeneration with Brain Iron Accumulation 6

Genetic tests related to Neurodegeneration with Brain Iron Accumulation 6:

# Genetic test Affiliating Genes
1 Neurodegeneration with Brain Iron Accumulation 6 29 COASY

Anatomical Context for Neurodegeneration with Brain Iron Accumulation 6

MalaCards organs/tissues related to Neurodegeneration with Brain Iron Accumulation 6:

41
Brain, Testes, Skin, Globus Pallidus, Eye, Colon, Thalamus

Publications for Neurodegeneration with Brain Iron Accumulation 6

Articles related to Neurodegeneration with Brain Iron Accumulation 6:

(show top 50) (show all 122)
# Title Authors PMID Year
1
Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye. 38 8 71
28489334 2017
2
Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. 8 71
24360804 2014
3
Neurodegeneration with Brain Iron Accumulation Disorders Overview 71
23447832 2013
4
Syndromes of neurodegeneration with brain iron accumulation. 71
22704258 2012
5
Total Laboratory Automation: What Is Gained, What Is Lost, and Who Can Afford It? 38
31383263 2019
6
Automated Detection of Streptococcus pyogenes pharyngitis using Colorex Strep A CHROMagar and WASPLab™ Artificial Intelligence Chromogenic Detection Module Software. 38
31434725 2019
7
Copan microFLOQ® Direct Swab collection of bloodstains, saliva, and semen on cotton cloth. 38
31165261 2019
8
Evaluating the preservation and isolation of stool pathogens using the COPAN FecalSwab™ Transport System and Walk-Away Specimen Processor. 38
30611563 2019
9
Development of a scale for measuring collaboration between physicians and nurses in primary health-care teams. 38
30999774 2019
10
Copan WASPLab automation significantly reduces incubation times and allows earlier culture readings. 38
30986560 2019
11
Simulating X-ray Absorption Spectra with Linear-Response Density Cumulant Theory. 38
30742431 2019
12
Prospective evaluation of three rapid molecular tests for seasonal influenza in patients presenting at an emergency unit. 38
30639844 2019
13
Evaluation of Methods for the Extraction of Microbial DNA From Vaginal Swabs Used for Microbiome Studies. 38
31245304 2019
14
Comparison of the Superpolymyxin and ChromID Colistin R Screening Media for the Detection of Colistin-Resistant Enterobacteriaceae from Spiked Rectal Swabs. 38
30323032 2019
15
Inborn errors of coenzyme A metabolism and neurodegeneration. 38
30740736 2019
16
Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis. 38
30089828 2018
17
Are bacterial culture quantifications reliable? Comparative performance of the WASP automated inoculation instrument in the era of ISO 15189 accreditation. 38
30307844 2018
18
Comparison of clinical performance of commercial urine growth stabilization products. 38
29941365 2018
19
How small modifications in laboratory workflow of blood cultures can have a significant impact on time to results. 38
29961166 2018
20
A Single Step Mutation at D3S1358 Locus in a DNA Paternity Testing with 2 Alleged Fathers. 38
30274029 2018
21
Inborn errors of coenzyme A metabolism and neurodegeneration. 38
29767814 2018
22
Evaluation of the Copan Myco-TB kit for the decontamination of respiratory samples for the detection of Mycobacteria. 38
29247404 2018
23
Evaluation of the Copan ESwab Transport System for Viability of Pathogenic Fungi by Use of a Modification of Clinical and Laboratory Standards Institute Document M40-A2. 38
29167289 2018
24
Streptococcus pneumoniae Serotype Epidemiology among PCV-10 Vaccinated and Unvaccinated Children at Gertrude's Children's Hospital, Nairobi County: A Cross-Sectional Study. 38
30800286 2018
25
Extensive evaluation of fastidious anaerobic bacteria recovery from the Copan eSwab® transport system. 38
29146304 2018
26
Jaguar and puma captivity and trade among the Maya: Stable isotope data from Copan, Honduras. 38
30208053 2018
27
UriSwab: an effective transport medium for nucleic acid detection of Chlamydia trachomatis, Mycoplasma genitalium and Neisseria gonorrhoeae. 38
28697843 2017
28
[Detection of influenza virus infections by molecular and immunofluorescence methods]. 38
29153067 2017
29
Evaluation of Copan FecalSwab as Specimen Type for Use in Xpert C. difficile Assay. 38
28794179 2017
30
Colonisation with extended-spectrum beta-lactamase (ESBL) not detected in a prevalence study. 38
27761798 2017
31
A likely cranial osteodystrophy (Paget's disease of bone) in a Precolumbian, Mesoamerican stone sculpture. 38
28255822 2017
32
Prospective microbiologic evaluation of the forceps elevator in closed-channel duodenoscopes after reprocessing. 38
28341284 2017
33
Evaluation of Antibiotic Residues in Pasteurized and Raw Milk Distributed in the South of Khorasan-e Razavi Province, Iran. 38
28208877 2016
34
Can Drainage Using a Negative-Pressure Wound Therapy Device Replace Traditional Sample Collection Methods? 38
27348793 2016
35
Automatic Digital Analysis of Chromogenic Media for Vancomycin-Resistant-Enterococcus Screens Using Copan WASPLab. 38
27413193 2016
36
A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. 38
27487380 2016
37
Crib Mattress Investigation: A quality improvement study to assess mattress cover permeability and bacterial growth in crib mattresses. 38
26856469 2016
38
Detection of Group B Streptococcus Directly from Collected ESwab Samples by Use of the BD Max GBS Assay. 38
27053670 2016
39
Comparison of the Copan eSwab System with an Agar Swab Transport System for Maintenance of Fastidious Anaerobic Bacterium Viability. 38
26888906 2016
40
Does bacteriology laboratory automation reduce time to results and increase quality management? 38
26577142 2016
41
Performance of Copan WASP for Routine Urine Microbiology. 38
26677255 2016
42
Laboratory automation in clinical bacteriology: what system to choose? 38
26806135 2016
43
Comparative Evaluation of Inoculation of Urine Samples with the Copan WASP and BD Kiestra InoqulA Instruments. 38
26607980 2016
44
Comparison of illumigene Group A Streptococcus Assay with Culture of Throat Swabs from Children with Sore Throats in the New Zealand School-Based Rheumatic Fever Prevention Program. 38
26560542 2016
45
Evaluation of Copan FLOQSwab for the molecular detection of Chlamydia trachomatis by Abbott RealTime CT PCR. 38
26107497 2015
46
Standardization of Operator-Dependent Variables Affecting Precision and Accuracy of the Disk Diffusion Method for Antibiotic Susceptibility Testing. 38
26468500 2015
47
Maya paleodemographics: what do we know? 38
26089156 2015
48
Evaluation of factors affecting real-time PCR performance for diagnosis of Entamoeba histolytica and Entamoeba dispar in clinical stool samples. 38
26296348 2015
49
Comparison of Inoculation with the InoqulA and WASP Automated Systems with Manual Inoculation. 38
25972424 2015
50
Dual Intervention to Increase Chlamydia Retesting: A Randomized Controlled Trial in Three Populations. 38
26094224 2015

Variations for Neurodegeneration with Brain Iron Accumulation 6

ClinVar genetic disease variations for Neurodegeneration with Brain Iron Accumulation 6:

6 (show all 16)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 COASY NM_025233.7(COASY): c.641C> T (p.Ala214Val) single nucleotide variant Pathogenic 17:40715281-40715281 17:42563263-42563263
2 COASY NM_025233.7(COASY): c.1495C> T (p.Arg499Cys) single nucleotide variant Pathogenic rs140709867 17:40717686-40717686 17:42565668-42565668
3 COASY NM_025233.7(COASY): c.175C> T (p.Gln59Ter) single nucleotide variant Pathogenic rs587777136 17:40714815-40714815 17:42562797-42562797
4 COASY NM_025233.7(COASY): c.1395_1396TG[6] (p.Ile469Ter) short repeat Conflicting interpretations of pathogenicity rs560987504 17:40717504-40717505 17:42565486-42565487
5 COASY NM_025233.7(COASY): c.1393C> T (p.Arg465Cys) single nucleotide variant Uncertain significance rs146857074 17:40717494-40717494 17:42565476-42565476
6 COASY NM_025233.7(COASY): c.*2_*3del (p.Ter565=) deletion Uncertain significance rs1555625395 17:40717988-40717989 17:42565970-42565971
7 COASY NM_025233.7(COASY): c.932C> T (p.Ala311Val) single nucleotide variant Uncertain significance 17:40716480-40716480 17:42564462-42564462
8 COASY NM_025233.7(COASY): c.113A> G (p.Tyr38Cys) single nucleotide variant Uncertain significance 17:40714753-40714753 17:42562735-42562735
9 COASY NM_025233.7(COASY): c.161A> C (p.Gln54Pro) single nucleotide variant Uncertain significance 17:40714801-40714801 17:42562783-42562783
10 COASY NM_025233.7(COASY): c.876T> A (p.Tyr292Ter) single nucleotide variant Uncertain significance 17:40716154-40716154 17:42564136-42564136
11 COASY NM_025233.7(COASY): c.1183G> A (p.Ala395Thr) single nucleotide variant Uncertain significance 17:40716862-40716862 17:42564844-42564844
12 COASY NM_025233.7(COASY): c.1285C> T (p.Arg429Trp) single nucleotide variant Uncertain significance 17:40717048-40717048 17:42565030-42565030
13 COASY NM_025233.7(COASY): c.1561G> A (p.Gly521Arg) single nucleotide variant Uncertain significance 17:40717752-40717752 17:42565734-42565734
14 COASY NM_025233.7(COASY): c.1632+3T> G single nucleotide variant Uncertain significance 17:40717826-40717826 17:42565808-42565808
15 COASY NM_025233.7(COASY): c.1486-5C> G single nucleotide variant Benign rs74886553 17:40717672-40717672 17:42565654-42565654
16 COASY NM_025233.7(COASY): c.-1C> T single nucleotide variant not provided rs147852474 17:40714640-40714640 17:42562622-42562622

UniProtKB/Swiss-Prot genetic disease variations for Neurodegeneration with Brain Iron Accumulation 6:

74
# Symbol AA change Variation ID SNP ID
1 COASY p.Arg499Cys VAR_070975 rs140709867

Expression for Neurodegeneration with Brain Iron Accumulation 6

Search GEO for disease gene expression data for Neurodegeneration with Brain Iron Accumulation 6.

Pathways for Neurodegeneration with Brain Iron Accumulation 6

Pathways related to Neurodegeneration with Brain Iron Accumulation 6 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 9.9 PANK2 COASY

GO Terms for Neurodegeneration with Brain Iron Accumulation 6

Cellular components related to Neurodegeneration with Brain Iron Accumulation 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.36 WAS VPS13A PLA2G6 PLA2G1B PANK2 MLX

Biological processes related to Neurodegeneration with Brain Iron Accumulation 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antibacterial humoral response GO:0019731 9.32 PLA2G6 PLA2G1B
2 phosphatidylcholine acyl-chain remodeling GO:0036151 9.26 PLA2G6 PLA2G1B
3 phosphatidylethanolamine acyl-chain remodeling GO:0036152 9.16 PLA2G6 PLA2G1B
4 coenzyme A biosynthetic process GO:0015937 8.96 PANK2 COASY
5 coenzyme biosynthetic process GO:0009108 8.62 PANK2 COASY

Molecular functions related to Neurodegeneration with Brain Iron Accumulation 6 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipase A2 activity GO:0004623 9.16 PLA2G6 PLA2G1B
2 phospholipase A2 activity consuming 1,2-dioleoylphosphatidylethanolamine) GO:0102568 8.96 PLA2G6 PLA2G1B
3 phospholipase A2 activity (consuming 1,2-dipalmitoylphosphatidylcholine) GO:0102567 8.62 PLA2G6 PLA2G1B

Sources for Neurodegeneration with Brain Iron Accumulation 6

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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
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44 MeSH
45 MESH via Orphanet
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49 NCI
50 NCIt
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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