MCID: PRK092
MIFTS: 41

Parkinson Disease 6, Autosomal Recessive Early-Onset

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

Aliases & Classifications for Parkinson Disease 6, Autosomal Recessive Early-Onset

MalaCards integrated aliases for Parkinson Disease 6, Autosomal Recessive Early-Onset:

Name: Parkinson Disease 6, Autosomal Recessive Early-Onset 57 29 6 73
Parkinson Disease 6 75 29 6
Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/dj1 29 6
Parkinson Disease 6, Early Onset 57 13
Park6 57 75
Parkinson Disease Autosomal Recessive Early-Onset Digenic Pink1/dj1 75
Parkinson Disease, Type 6, Autosomal Recessive, Early-Onset 40
Autosomal Recessive Early-Onset Parkinson Disease Type 6 75
Autosomal Recessive Early-Onset Parkinson's Disease 6 12
Autosomal Recessive Early-Onset Parkinson Disease 6 12
Parkinson Disease 6 Late-Onset Susceptibility to 75
Parkinson Disease 6, Early-Onset; Park6 57
Parkinson Disease 6, Early-Onset 57
Early-Onset Parkinson Disease 6 12
Parkinson Disease 6 Early-Onset 75
Parkinsonism Young Adult Onset 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
slow progression
levodopa-responsive
early onset (9-48 years, but reported up to 68 years)
diurnal fluctuation
levodopa-induced dyskinesias
a subset of patients have heterozygous mutations, which may predispose to disease development


HPO:

32
parkinson disease 6, autosomal recessive early-onset:
Onset and clinical course infantile onset slow progression
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Parkinson Disease 6, Autosomal Recessive Early-Onset

UniProtKB/Swiss-Prot : 75 Parkinson disease 6: An early-onset form of Parkinson disease, a neurodegenerative disorder characterized by parkinsonian signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifest additional symptoms including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptoms show diurnal fluctuation and can improve after sleep. PARK6 pathogenesis involves respiratory complex I deficiency causing mitochondrial depolarization and dysfunction. Inheritance is autosomal recessive.

MalaCards based summary : Parkinson Disease 6, Autosomal Recessive Early-Onset, also known as parkinson disease 6, is related to parkinson disease 2, autosomal recessive juvenile and parkinson disease, late-onset, and has symptoms including muscle rigidity, bradykinesia and resting tremor. An important gene associated with Parkinson Disease 6, Autosomal Recessive Early-Onset is PINK1 (PTEN Induced Putative Kinase 1), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pink/Parkin Mediated Mitophagy. The drug Fluorodeoxyglucose F18 has been mentioned in the context of this disorder. Related phenotypes are urinary urgency and depressivity

Disease Ontology : 12 A Parkinson's disease that has material basis in mutations in the PINK1 gene on chromosome 1p36.12.

Description from OMIM: 605909

Related Diseases for Parkinson Disease 6, Autosomal Recessive Early-Onset

Diseases in the Parkinson Disease, Late-Onset family:

Parkinson Disease 1, Autosomal Dominant Parkinson Disease 15, Autosomal Recessive Early-Onset
Parkinson Disease 12 Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinson Disease 3, Autosomal Dominant Parkinson Disease 4, Autosomal Dominant
Parkinson Disease 6, Autosomal Recessive Early-Onset Parkinson Disease 7, Autosomal Recessive Early-Onset
Parkinson Disease 10 Parkinson Disease 8, Autosomal Dominant
Parkinson Disease 11, Autosomal Dominant Parkinson Disease 13, Autosomal Dominant
Parkinson Disease 14, Autosomal Recessive Parkinson Disease 16
Parkinson Disease 5, Autosomal Dominant Parkinson Disease 17
Parkinson Disease 18, Autosomal Dominant Parkinson Disease 19a, Juvenile-Onset
Parkinson Disease 20, Early-Onset Parkinson Disease 21
Parkinson Disease 22, Autosomal Dominant Parkinson Disease 23, Autosomal Recessive Early-Onset
Juvenile-Onset Parkinson's Disease Early-Onset Parkinson's Disease
Lrrk2-Related Parkinson Disease Vps35-Related Parkinson Disease
Parkinson Disease Type 9 Hereditary Late-Onset Parkinson Disease

Diseases related to Parkinson Disease 6, Autosomal Recessive Early-Onset via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 parkinson disease 2, autosomal recessive juvenile 32.2 PARK7 PINK1
2 parkinson disease, late-onset 30.7 MT-ND5 PARK7 PINK1 PINK1-AS
3 parkinson disease 10 10.2 PARK7 PINK1
4 early-onset parkinson's disease 10.2 PARK7 PINK1
5 movement disease 10.0 PARK7 PINK1
6 synucleinopathy 10.0 PARK7 PINK1
7 mitochondrial dna-associated leigh syndrome and narp 9.9 MT-ND5 MT-ND6
8 central nervous system disease 9.9 PARK7 PINK1
9 mitochondrial metabolism disease 9.9 MT-ND5 MT-ND6
10 cranial nerve disease 9.8 MT-ND5 MT-ND6
11 optic nerve disease 9.8 MT-ND5 MT-ND6
12 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.8 MT-ND5 MT-ND6
13 nervous system disease 9.8 PARK7 PINK1
14 mitochondrial myopathy, infantile, transient 9.6 MT-CYB MT-ND6
15 parkinson disease, mitochondrial 9.6 MT-CYB MT-ND6
16 mitochondrial disorders 9.2 MT-ND5 MT-ND6
17 leber optic atrophy 9.0 MT-CYB MT-ND5 MT-ND6
18 encephalomyopathy 9.0 MT-CYB MT-ND5 MT-ND6
19 familial colorectal cancer 9.0 MT-CYB MT-ND5 MT-ND6
20 kearns-sayre syndrome 9.0 MT-CYB MT-ND5 MT-ND6
21 mitochondrial encephalomyopathy 9.0 MT-CYB MT-ND5 MT-ND6
22 mitochondrial myopathy 9.0 MT-CYB MT-ND5 MT-ND6
23 lactic acidosis 9.0 MT-CYB MT-ND5 MT-ND6
24 leber hereditary optic neuropathy 8.9 MT-CYB MT-ND5 MT-ND6
25 leigh syndrome 8.8 MT-CYB MT-ND5 MT-ND6

Graphical network of the top 20 diseases related to Parkinson Disease 6, Autosomal Recessive Early-Onset:



Diseases related to Parkinson Disease 6, Autosomal Recessive Early-Onset

Symptoms & Phenotypes for Parkinson Disease 6, Autosomal Recessive Early-Onset

Symptoms via clinical synopsis from OMIM:

57
Neurologic Behavioral Psychiatric Manifestations:
anxiety
depression
psychiatric disturbances (25%)

Genitourinary Bladder:
urinary urgency (in 44% of patients)

Neurologic Central Nervous System:
rigidity
bradykinesia
parkinsonism
resting tremor
asymmetry at onset (74%)
more

Clinical features from OMIM:

605909

Human phenotypes related to Parkinson Disease 6, Autosomal Recessive Early-Onset:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 urinary urgency 32 HP:0000012
2 depressivity 32 HP:0000716
3 dementia 32 HP:0000726
4 anxiety 32 HP:0000739
5 parkinsonism 32 HP:0001300
6 dystonia 32 HP:0001332
7 hyperreflexia 32 HP:0001347
8 rigidity 32 HP:0002063
9 bradykinesia 32 HP:0002067
10 postural instability 32 HP:0002172
11 resting tremor 32 HP:0002322

UMLS symptoms related to Parkinson Disease 6, Autosomal Recessive Early-Onset:


muscle rigidity, bradykinesia, resting tremor

Drugs & Therapeutics for Parkinson Disease 6, Autosomal Recessive Early-Onset

Drugs for Parkinson Disease 6, Autosomal Recessive Early-Onset (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fluorodeoxyglucose F18 Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Development of a Novel 18F-DTBZ PET Imaging as a Biomarker to Monitor Neurodegeneration of PARK6 and PARK8 Parkinsonism Completed NCT01759888 Phase 2 18F-DTBZ
2 Genetic Study in Young Onset Parkinson's Disease Unknown status NCT01529970

Search NIH Clinical Center for Parkinson Disease 6, Autosomal Recessive Early-Onset

Genetic Tests for Parkinson Disease 6, Autosomal Recessive Early-Onset

Genetic tests related to Parkinson Disease 6, Autosomal Recessive Early-Onset:

# Genetic test Affiliating Genes
1 Parkinson Disease 6, Autosomal Recessive Early-Onset 29 PINK1
2 Parkinson Disease 6 29
3 Parkinson Disease, Autosomal Recessive Early-Onset, Digenic, Pink1/dj1 29

Anatomical Context for Parkinson Disease 6, Autosomal Recessive Early-Onset

Publications for Parkinson Disease 6, Autosomal Recessive Early-Onset

Variations for Parkinson Disease 6, Autosomal Recessive Early-Onset

UniProtKB/Swiss-Prot genetic disease variations for Parkinson Disease 6, Autosomal Recessive Early-Onset:

75 (show all 23)
# Symbol AA change Variation ID SNP ID
1 PINK1 p.Gly309Asp VAR_018994 rs74315355
2 PINK1 p.Cys92Phe VAR_046568
3 PINK1 p.Ala168Pro VAR_046575 rs768091663
4 PINK1 p.Pro196Leu VAR_046577 rs138302371
5 PINK1 p.Ala217Asp VAR_046578 rs74315360
6 PINK1 p.Glu240Lys VAR_046581 rs573931674
7 PINK1 p.Leu268Val VAR_046584 rs372280083
8 PINK1 p.His271Gln VAR_046585 rs28940284
9 PINK1 p.Arg279His VAR_046587 rs74315358
10 PINK1 p.Thr313Met VAR_046589 rs74315359
11 PINK1 p.Leu347Pro VAR_046593 rs28940285
12 PINK1 p.Cys388Arg VAR_046596
13 PINK1 p.Glu417Gly VAR_046599
14 PINK1 p.Arg464His VAR_046605 rs764328076
15 PINK1 p.Leu489Pro VAR_046607
16 PINK1 p.Cys125Gly VAR_062773
17 PINK1 p.Ala280Thr VAR_062774 rs772510148
18 PINK1 p.Leu369Pro VAR_062775
19 PINK1 p.Gly386Ala VAR_062776
20 PINK1 p.Arg407Gln VAR_062778 rs556540177
21 PINK1 p.Gly409Val VAR_062779
22 PINK1 p.Gln126Pro VAR_064344
23 PINK1 p.Val170Gly VAR_078934

ClinVar genetic disease variations for Parkinson Disease 6, Autosomal Recessive Early-Onset:

6
(show top 50) (show all 53)
# Gene Variation Type Significance SNP ID Assembly Location
1 PINK1 NM_032409.2(PINK1): c.926G> A (p.Gly309Asp) single nucleotide variant Pathogenic rs74315355 GRCh37 Chromosome 1, 20971132: 20971132
2 PINK1 NM_032409.2(PINK1): c.926G> A (p.Gly309Asp) single nucleotide variant Pathogenic rs74315355 GRCh38 Chromosome 1, 20644639: 20644639
3 PINK1 NM_032409.2(PINK1): c.813C> A (p.His271Gln) single nucleotide variant Pathogenic rs28940284 GRCh37 Chromosome 1, 20971019: 20971019
4 PINK1 NM_032409.2(PINK1): c.813C> A (p.His271Gln) single nucleotide variant Pathogenic rs28940284 GRCh38 Chromosome 1, 20644526: 20644526
5 PINK1 NM_032409.2(PINK1): c.1311G> A (p.Trp437Ter) single nucleotide variant Pathogenic rs74315356 GRCh37 Chromosome 1, 20975547: 20975547
6 PINK1 NM_032409.2(PINK1): c.1311G> A (p.Trp437Ter) single nucleotide variant Pathogenic rs74315356 GRCh38 Chromosome 1, 20649054: 20649054
7 PINK1 NM_032409.2(PINK1): c.736C> T (p.Arg246Ter) single nucleotide variant Pathogenic rs74315357 GRCh37 Chromosome 1, 20966445: 20966445
8 PINK1 NM_032409.2(PINK1): c.736C> T (p.Arg246Ter) single nucleotide variant Pathogenic rs74315357 GRCh38 Chromosome 1, 20639952: 20639952
9 PINK1 NM_032409.2(PINK1): c.1040T> C (p.Leu347Pro) single nucleotide variant Pathogenic rs28940285 GRCh37 Chromosome 1, 20972133: 20972133
10 PINK1 NM_032409.2(PINK1): c.1040T> C (p.Leu347Pro) single nucleotide variant Pathogenic rs28940285 GRCh38 Chromosome 1, 20645640: 20645640
11 PINK1 NM_032409.2(PINK1): c.1570_1573dupTTAG (p.Asp525Valfs) duplication Pathogenic rs730880302 GRCh37 Chromosome 1, 20977008: 20977011
12 PINK1 NM_032409.2(PINK1): c.1570_1573dupTTAG (p.Asp525Valfs) duplication Pathogenic rs730880302 GRCh38 Chromosome 1, 20650515: 20650518
13 PINK1 PINK1, 3-BP INS, 1602CAA insertion Pathogenic
14 PINK1 NM_032409.2(PINK1): c.836G> A (p.Arg279His) single nucleotide variant Pathogenic rs74315358 GRCh37 Chromosome 1, 20971042: 20971042
15 PINK1 NM_032409.2(PINK1): c.836G> A (p.Arg279His) single nucleotide variant Pathogenic rs74315358 GRCh38 Chromosome 1, 20644549: 20644549
16 PINK1 NM_005216.4(DDOST): c.*807_*5409del deletion Pathogenic GRCh38 Chromosome 1, 20646970: 20651572
17 PINK1 NM_005216.4(DDOST): c.*807_*5409del deletion Pathogenic GRCh37 Chromosome 1, 20973463: 20978065
18 PINK1 NM_032409.2(PINK1): c.938C> T (p.Thr313Met) single nucleotide variant Pathogenic rs74315359 GRCh37 Chromosome 1, 20971144: 20971144
19 PINK1 NM_032409.2(PINK1): c.938C> T (p.Thr313Met) single nucleotide variant Pathogenic rs74315359 GRCh38 Chromosome 1, 20644651: 20644651
20 PINK1 NM_032409.2(PINK1): c.650C> A (p.Ala217Asp) single nucleotide variant Pathogenic rs74315360 GRCh37 Chromosome 1, 20964597: 20964597
21 PINK1 NM_032409.2(PINK1): c.650C> A (p.Ala217Asp) single nucleotide variant Pathogenic rs74315360 GRCh38 Chromosome 1, 20638104: 20638104
22 PINK1 NM_032409.2(PINK1): c.1366C> T (p.Gln456Ter) single nucleotide variant Pathogenic rs45539432 GRCh37 Chromosome 1, 20975602: 20975602
23 PINK1 NM_032409.2(PINK1): c.1366C> T (p.Gln456Ter) single nucleotide variant Pathogenic rs45539432 GRCh38 Chromosome 1, 20649109: 20649109
24 PINK1 NM_032409.2(PINK1): c.1291T> C (p.Tyr431His) single nucleotide variant risk factor rs74315361 GRCh37 Chromosome 1, 20975527: 20975527
25 PINK1 NM_032409.2(PINK1): c.1291T> C (p.Tyr431His) single nucleotide variant risk factor rs74315361 GRCh38 Chromosome 1, 20649034: 20649034
26 PARK7 NM_007262.4(PARK7): c.115G> T (p.Ala39Ser) single nucleotide variant Pathogenic rs137853051 GRCh37 Chromosome 1, 8025408: 8025408
27 PARK7 NM_007262.4(PARK7): c.115G> T (p.Ala39Ser) single nucleotide variant Pathogenic rs137853051 GRCh38 Chromosome 1, 7965348: 7965348
28 MT-ND6 m.14319T> C single nucleotide variant risk factor rs199476110 GRCh37 Chromosome MT, 14319: 14319
29 MT-ND6 m.14319T> C single nucleotide variant risk factor rs199476110 GRCh38 Chromosome MT, 14319: 14319
30 MT-ND5 m.12397A> G single nucleotide variant risk factor rs200890363 GRCh37 Chromosome MT, 12397: 12397
31 MT-ND5 m.12397A> G single nucleotide variant risk factor rs200890363 GRCh38 Chromosome MT, 12397: 12397
32 PINK1 NM_032409.2(PINK1): c.799C> T (p.Gln267Ter) single nucleotide variant not provided rs730882053 GRCh37 Chromosome 1, 20971005: 20971005
33 PINK1 NM_032409.2(PINK1): c.799C> T (p.Gln267Ter) single nucleotide variant not provided rs730882053 GRCh38 Chromosome 1, 20644512: 20644512
34 PINK1 NM_032409.2(PINK1): c.620delG (p.Arg207Glnfs) deletion Pathogenic rs756677845 GRCh37 Chromosome 1, 20964567: 20964567
35 PINK1 NM_032409.2(PINK1): c.620delG (p.Arg207Glnfs) deletion Pathogenic rs756677845 GRCh38 Chromosome 1, 20638074: 20638074
36 PINK1 NM_032409.2(PINK1): c.189C> T (p.Leu63=) single nucleotide variant Benign/Likely benign rs45530340 GRCh37 Chromosome 1, 20960230: 20960230
37 PINK1 NM_032409.2(PINK1): c.189C> T (p.Leu63=) single nucleotide variant Benign/Likely benign rs45530340 GRCh38 Chromosome 1, 20633737: 20633737
38 PINK1 NM_032409.2(PINK1): c.858G> A (p.Pro286=) single nucleotide variant Conflicting interpretations of pathogenicity rs148144773 GRCh37 Chromosome 1, 20971064: 20971064
39 PINK1 NM_032409.2(PINK1): c.858G> A (p.Pro286=) single nucleotide variant Conflicting interpretations of pathogenicity rs148144773 GRCh38 Chromosome 1, 20644571: 20644571
40 PINK1 NM_032409.2(PINK1): c.344A> T (p.Gln115Leu) single nucleotide variant Benign/Likely benign rs148871409 GRCh38 Chromosome 1, 20633892: 20633892
41 PINK1 NM_032409.2(PINK1): c.344A> T (p.Gln115Leu) single nucleotide variant Benign/Likely benign rs148871409 GRCh37 Chromosome 1, 20960385: 20960385
42 PINK1 NM_032409.2(PINK1): c.587C> T (p.Pro196Leu) single nucleotide variant Uncertain significance rs138302371 GRCh37 Chromosome 1, 20964534: 20964534
43 PINK1 NM_032409.2(PINK1): c.587C> T (p.Pro196Leu) single nucleotide variant Uncertain significance rs138302371 GRCh38 Chromosome 1, 20638041: 20638041
44 PINK1 NM_032409.2(PINK1): c.935G> A (p.Arg312Gln) single nucleotide variant Uncertain significance rs202128685 GRCh38 Chromosome 1, 20644648: 20644648
45 PINK1 NM_032409.2(PINK1): c.935G> A (p.Arg312Gln) single nucleotide variant Uncertain significance rs202128685 GRCh37 Chromosome 1, 20971141: 20971141
46 PINK1 NM_032409.2(PINK1): c.804A> G (p.Leu268=) single nucleotide variant Benign rs200708848 GRCh37 Chromosome 1, 20971010: 20971010
47 PINK1 NM_032409.2(PINK1): c.804A> G (p.Leu268=) single nucleotide variant Benign rs200708848 GRCh38 Chromosome 1, 20644517: 20644517
48 PINK1 NM_032409.2(PINK1): c.1015G> A (p.Ala339Thr) single nucleotide variant Uncertain significance rs55831733 GRCh37 Chromosome 1, 20972108: 20972108
49 PINK1 NM_032409.2(PINK1): c.1015G> A (p.Ala339Thr) single nucleotide variant Uncertain significance rs55831733 GRCh38 Chromosome 1, 20645615: 20645615
50 PINK1 NM_032409.2(PINK1): c.1173T> C (p.Asp391=) single nucleotide variant Benign rs45499398 GRCh38 Chromosome 1, 20648554: 20648554

Expression for Parkinson Disease 6, Autosomal Recessive Early-Onset

Search GEO for disease gene expression data for Parkinson Disease 6, Autosomal Recessive Early-Onset.

Pathways for Parkinson Disease 6, Autosomal Recessive Early-Onset

GO Terms for Parkinson Disease 6, Autosomal Recessive Early-Onset

Cellular components related to Parkinson Disease 6, Autosomal Recessive Early-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.55 MT-CYB MT-ND5 MT-ND6 PARK7 PINK1
2 chromatin GO:0000785 9.4 PARK7 PINK1
3 cell body GO:0044297 9.37 PARK7 PINK1
4 mitochondrial intermembrane space GO:0005758 9.32 PARK7 PINK1
5 mitochondrial respiratory chain complex I GO:0005747 9.26 MT-ND5 PARK7
6 mitochondrial inner membrane GO:0005743 9.26 MT-CYB MT-ND5 MT-ND6 PINK1
7 respiratory chain GO:0070469 8.8 MT-CYB MT-ND5 MT-ND6

Biological processes related to Parkinson Disease 6, Autosomal Recessive Early-Onset according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of DNA binding transcription factor activity GO:0051091 9.57 PARK7 PINK1
2 mitochondrion organization GO:0007005 9.56 PARK7 PINK1
3 cellular response to oxidative stress GO:0034599 9.55 PARK7 PINK1
4 positive regulation of peptidyl-serine phosphorylation GO:0033138 9.54 PARK7 PINK1
5 mitochondrial respiratory chain complex I assembly GO:0032981 9.52 MT-ND5 MT-ND6
6 negative regulation of neuron death GO:1901215 9.51 PARK7 PINK1
7 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.49 MT-ND5 MT-ND6
8 response to organonitrogen compound GO:0010243 9.48 MT-CYB MT-ND5
9 activation of protein kinase B activity GO:0032148 9.46 PARK7 PINK1
10 regulation of mitochondrial membrane potential GO:0051881 9.43 PARK7 PINK1
11 regulation of neuron apoptotic process GO:0043523 9.4 PARK7 PINK1
12 respiratory electron transport chain GO:0022904 9.37 MT-CYB PINK1
13 response to hydrogen peroxide GO:0042542 9.33 MT-ND5 MT-ND6 PARK7
14 negative regulation of oxidative stress-induced neuron death GO:1903204 9.32 PARK7 PINK1
15 negative regulation of oxidative stress-induced cell death GO:1903202 9.26 PARK7 PINK1
16 negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway GO:1903384 8.96 PARK7 PINK1
17 positive regulation of mitochondrial electron transport, NADH to ubiquinone GO:1902958 8.62 PARK7 PINK1

Molecular functions related to Parkinson Disease 6, Autosomal Recessive Early-Onset according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.13 MT-CYB MT-ND5 MT-ND6
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.62 MT-ND5 MT-ND6

Sources for Parkinson Disease 6, Autosomal Recessive Early-Onset

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
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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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