CMT2P
MCID: CHR608
MIFTS: 34

Charcot-Marie-Tooth Disease, Axonal, Type 2p (CMT2P)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2p

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2p:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2p 58 74
Charcot-Marie-Tooth Disease Type 2p 12 54 60 30 6
Cmt2p 58 12 54 60 76
Charcot-Marie-Tooth Disease Axonal Type 2p 12 76 15
Charcot-Marie-Toothe Disease, Axonal, Type 2p 54 13
Charcot-Marie-Tooth Neuropathy, Type 2p 58 54
Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly; Cmt2g, Formerly 58
Charcot-Marie-Tooth Disease, Axonal, Type 2g, Formerly 58
Charcot-Marie-Tooth Neuropathy Axonal Type 2p 76
Charcot-Marie-Tooth Disease, Axonal, Type 2g 74
Charcot-Marie-Tooth Disease, Axonal Type 2g 76
Charcot-Marie-Tooth Neuropathy Type 2p 12
Charcot-Marie-Tooth Disease, Type 2p 41
Charcot-Marie-Tooth Disease 2p 76
Cmt2g, Formerly 58
Cmt2g 76

Characteristics:

Orphanet epidemiological data:

60
charcot-marie-tooth disease type 2p
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Adult;

OMIM:

58
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
incomplete penetrance
usually begins in feet and legs (peroneal distribution)
may progress to upper limbs
slowly progressive disorder
some patients may become wheelchair-bound
peak age of onset in second decade (range childhood to 76 years)
onset usually in adulthood
both homozygous and heterozygous mutations in lrsam1 have been reported


HPO:

33
charcot-marie-tooth disease, axonal, type 2p:
Onset and clinical course incomplete penetrance slow progression
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110169
OMIM 58 614436
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
Orphanet 60 ORPHA300319

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2p

NIH Rare Diseases : 54 Charcot-Marie-Tooth disease type 2P (CMT2P) is a subtype of Charcot-Marie-Tooth caused by changes (mutations) in the LRSAM1 gene. The onset of symptoms commonly occurs between 20 and 40 years of age and the disease seems to be relatively mild and benign. Symptoms may include mild loss of sensation in the fingertips and severe loss of sensation in the feet and legs. The most common type of sensation loss is to vibration, but proprioception (the sense of how we are oriented in space) and perception to pain may also be affected. Individuals with CMT2P may also have muscle twitches (fasciculations) and cramps (in younger patients) and muscular weakness and muscular wasting in the legs, feet and hands (in older individuals). It may be inherited in an autossomal dominant or autossomal recessive pattern.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2p, also known as charcot-marie-tooth disease type 2p, is related to charcot-marie-tooth disease and charcot-marie-tooth disease type 2g, and has symptoms including muscular fasciculation and muscle cramp. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2p is LRSAM1 (Leucine Rich Repeat And Sterile Alpha Motif Containing 1). Affiliated tissues include skin, and related phenotypes are hammertoe and pes cavus

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33.

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease 2P: An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

Description from OMIM: 614436

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2p via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease 29.3 COX6A1 DNAJB2 LRSAM1 TRIM2
2 charcot-marie-tooth disease type 2g 11.9
3 autosomal dominant intermediate charcot-marie-tooth disease type b 11.7
4 cone-rod dystrophy and hearing loss 2 11.2
5 autosomal dominant charcot-marie-tooth disease type 2g 11.1
6 tooth disease 10.1
7 spastic paraplegia 46, autosomal recessive 9.5 COX6A1 SPG21
8 charcot-marie-tooth disease type 2a2 9.5 COX6A1 DNAJB2 TRIM2
9 charcot-marie-tooth disease intermediate type 9.1 COX6A1 DNAJB2 SPG21 TRIM2
10 charcot-marie-tooth disease, axonal, type 2b1 9.1 COX6A1 DNAJB2 SPG21 TRIM2
11 charcot-marie-tooth disease, axonal, type 2b2 9.0 COX6A1 DNAJB2 SPG21 TRIM2
12 charcot-marie-tooth disease, axonal, type 2h 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
13 charcot-marie-tooth disease, recessive intermediate d 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
14 spastic paraplegia 55, autosomal recessive 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
15 charcot-marie-tooth disease, axonal, type 2r 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
16 amyotrophic lateral sclerosis type 5 8.9 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
17 charcot-marie-tooth disease, axonal, type 2t 8.8 C12orf65 COX6A1 DNAJB2 SPG21 TRIM2
18 charcot-marie-tooth disease, axonal, type 2e 8.6 C12orf65 COX6A1 DNAJB2 LRSAM1 SPG21 TRIM2

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2p:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2p

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2p:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hammertoe 33 occasional (7.5%) HP:0001765
2 pes cavus 33 HP:0001761
3 decreased motor nerve conduction velocity 33 HP:0003431
4 toe walking 33 HP:0040083
5 areflexia 33 HP:0001284
6 fasciculations 33 HP:0002380
7 hyporeflexia 33 HP:0001265
8 foot dorsiflexor weakness 33 HP:0009027
9 distal muscle weakness 33 HP:0002460
10 steppage gait 33 HP:0003376
11 distal amyotrophy 33 HP:0003693
12 distal sensory impairment 33 HP:0002936
13 impaired distal vibration sensation 33 HP:0006886
14 axonal degeneration 33 HP:0040078
15 axonal degeneration/regeneration 33 HP:0003378
16 peripheral axonal degeneration 33 HP:0000764

Symptoms via clinical synopsis from OMIM:

58
Neurologic Peripheral Nervous System:
areflexia
fasciculations
hyporeflexia
steppage gait
sural nerve biopsy shows axonal degeneration
more
Muscle Soft Tissue:
muscle cramping
distal limb muscle weakness due to peripheral neuropathy (lower limbs are more affected than upper limbs)
distal limb muscle atrophy due to peripheral neuropathy (lower limbs are more affected than upper limbs)

Skeletal:
foot deformities
pes cavus (in some patients)
hammertoes (in some patients)

Clinical features from OMIM:

614436

UMLS symptoms related to Charcot-Marie-Tooth Disease, Axonal, Type 2p:


muscular fasciculation, muscle cramp

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2p:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2p 30 LRSAM1

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2p

MalaCards organs/tissues related to Charcot-Marie-Tooth Disease, Axonal, Type 2p:

42
Skin

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2p:

# Title Authors Year
1
LRSAM1-mediated ubiquitylation is disrupted in axonal Charcot-Marie-Tooth disease 2P. ( 28335037 )
2017
2
Charcot-Marie-Tooth disease type 2G redefined by a novel mutation in LRSAM1. ( 27686364 )
2016
3
A novel missense mutation of CMT2P alters transcription machinery. ( 27615052 )
2016
4
A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease. ( 22781092 )
2013
5
A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy. ( 22012984 )
2012
6
Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. ( 20865121 )
2010
7
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3. ( 14985381 )
2004
8
Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family. ( 3022865 )
1986

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2p

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2p:

76
# Symbol AA change Variation ID SNP ID
1 LRSAM1 p.Cys694Arg VAR_077460 rs759312530

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2p:

6 (show top 50) (show all 264)
# Gene Variation Type Significance SNP ID Assembly Location
1 LRSAM1 NM_138361.5(LRSAM1): c.1914G> A (p.Glu638=) single nucleotide variant Pathogenic rs387907032 GRCh37 Chromosome 9, 130263290: 130263290
2 LRSAM1 NM_138361.5(LRSAM1): c.1914G> A (p.Glu638=) single nucleotide variant Pathogenic rs387907032 GRCh38 Chromosome 9, 127501011: 127501011
3 LRSAM1 NM_138361.5(LRSAM1): c.2121_2122dupGC (p.Leu708Argfs) duplication Pathogenic rs786200930 GRCh38 Chromosome 9, 127502848: 127502849
4 LRSAM1 NM_138361.5(LRSAM1): c.2121_2122dupGC (p.Leu708Argfs) duplication Pathogenic rs786200930 GRCh37 Chromosome 9, 130265127: 130265128
5 LRSAM1 NM_138361.5(LRSAM1): c.2047-1G> A single nucleotide variant Uncertain significance GRCh37 Chromosome 9, 130265052: 130265052
6 LRSAM1 NM_138361.5(LRSAM1): c.2047-1G> A single nucleotide variant Uncertain significance GRCh38 Chromosome 9, 127502773: 127502773
7 LRSAM1 NM_138361.5(LRSAM1): c.1913-1G> A single nucleotide variant Pathogenic rs756880678 GRCh37 Chromosome 9, 130263288: 130263288
8 LRSAM1 NM_138361.5(LRSAM1): c.1913-1G> A single nucleotide variant Pathogenic rs756880678 GRCh38 Chromosome 9, 127501009: 127501009
9 LRSAM1 NM_138361.5(LRSAM1): c.268G> A (p.Asp90Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs117692127 GRCh37 Chromosome 9, 130221297: 130221297
10 LRSAM1 NM_138361.5(LRSAM1): c.268G> A (p.Asp90Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs117692127 GRCh38 Chromosome 9, 127459018: 127459018
11 LRSAM1 NM_138361.5(LRSAM1): c.1877T> G (p.Val626Gly) single nucleotide variant Uncertain significance rs574202204 GRCh38 Chromosome 9, 127497299: 127497299
12 LRSAM1 NM_138361.5(LRSAM1): c.1877T> G (p.Val626Gly) single nucleotide variant Uncertain significance rs574202204 GRCh37 Chromosome 9, 130259578: 130259578
13 LRSAM1 NM_138361.5(LRSAM1): c.2003_2015delTGGAGGTGCAGGC (p.Leu668Profs) deletion Likely pathogenic rs876661208 GRCh38 Chromosome 9, 127501100: 127501112
14 LRSAM1 NM_138361.5(LRSAM1): c.2003_2015delTGGAGGTGCAGGC (p.Leu668Profs) deletion Likely pathogenic rs876661208 GRCh37 Chromosome 9, 130263379: 130263391
15 LRSAM1 NM_138361.5(LRSAM1): c.569G> A (p.Arg190Gln) single nucleotide variant Uncertain significance rs142782210 GRCh38 Chromosome 9, 127467780: 127467780
16 LRSAM1 NM_138361.5(LRSAM1): c.569G> A (p.Arg190Gln) single nucleotide variant Uncertain significance rs142782210 GRCh37 Chromosome 9, 130230059: 130230059
17 LRSAM1 NM_138361.5(LRSAM1): c.965A> G (p.Gln322Arg) single nucleotide variant Benign/Likely benign rs56380300 GRCh37 Chromosome 9, 130242179: 130242179
18 LRSAM1 NM_138361.5(LRSAM1): c.965A> G (p.Gln322Arg) single nucleotide variant Benign/Likely benign rs56380300 GRCh38 Chromosome 9, 127479900: 127479900
19 LRSAM1 NM_138361.5(LRSAM1): c.1279C> T (p.Arg427Ter) single nucleotide variant Pathogenic rs138226428 GRCh37 Chromosome 9, 130249974: 130249974
20 LRSAM1 NM_138361.5(LRSAM1): c.1279C> T (p.Arg427Ter) single nucleotide variant Pathogenic rs138226428 GRCh38 Chromosome 9, 127487695: 127487695
21 LRSAM1 NM_138361.5(LRSAM1): c.1830+6C> T single nucleotide variant Benign/Likely benign rs75171318 GRCh37 Chromosome 9, 130258380: 130258380
22 LRSAM1 NM_138361.5(LRSAM1): c.1830+6C> T single nucleotide variant Benign/Likely benign rs75171318 GRCh38 Chromosome 9, 127496101: 127496101
23 LRSAM1 NM_138361.5(LRSAM1): c.1930G> T (p.Gly644Cys) single nucleotide variant Uncertain significance rs201284198 GRCh37 Chromosome 9, 130263306: 130263306
24 LRSAM1 NM_138361.5(LRSAM1): c.1930G> T (p.Gly644Cys) single nucleotide variant Uncertain significance rs201284198 GRCh38 Chromosome 9, 127501027: 127501027
25 LRSAM1 NM_001005373.3(LRSAM1): c.2068T> C (p.Cys690Arg) single nucleotide variant Likely pathogenic rs879253755 GRCh37 Chromosome 9, 130265074: 130265074
26 LRSAM1 NM_001005373.3(LRSAM1): c.2068T> C (p.Cys690Arg) single nucleotide variant Likely pathogenic rs879253755 GRCh38 Chromosome 9, 127502795: 127502795
27 LRSAM1 NM_138361.5(LRSAM1): c.184G> A (p.Val62Ile) single nucleotide variant Uncertain significance rs570688892 GRCh37 Chromosome 9, 130219604: 130219604
28 LRSAM1 NM_138361.5(LRSAM1): c.184G> A (p.Val62Ile) single nucleotide variant Uncertain significance rs570688892 GRCh38 Chromosome 9, 127457325: 127457325
29 LRSAM1 NM_138361.5(LRSAM1): c.586G> A (p.Gly196Ser) single nucleotide variant Uncertain significance rs148059394 GRCh38 Chromosome 9, 127467797: 127467797
30 LRSAM1 NM_138361.5(LRSAM1): c.586G> A (p.Gly196Ser) single nucleotide variant Uncertain significance rs148059394 GRCh37 Chromosome 9, 130230076: 130230076
31 LRSAM1 NM_138361.5(LRSAM1): c.1939G> A (p.Val647Ile) single nucleotide variant Uncertain significance rs879254326 GRCh37 Chromosome 9, 130263315: 130263315
32 LRSAM1 NM_138361.5(LRSAM1): c.1939G> A (p.Val647Ile) single nucleotide variant Uncertain significance rs879254326 GRCh38 Chromosome 9, 127501036: 127501036
33 LRSAM1 NM_138361.5(LRSAM1): c.1975G> A (p.Val659Met) single nucleotide variant Benign/Likely benign rs140786088 GRCh38 Chromosome 9, 127501072: 127501072
34 LRSAM1 NM_138361.5(LRSAM1): c.1975G> A (p.Val659Met) single nucleotide variant Benign/Likely benign rs140786088 GRCh37 Chromosome 9, 130263351: 130263351
35 LRSAM1 NM_138361.5(LRSAM1): c.2081G> A (p.Cys694Tyr) single nucleotide variant Pathogenic rs886041051 GRCh37 Chromosome 9, 130265087: 130265087
36 LRSAM1 NM_138361.5(LRSAM1): c.2081G> A (p.Cys694Tyr) single nucleotide variant Pathogenic rs886041051 GRCh38 Chromosome 9, 127502808: 127502808
37 LRSAM1 NM_138361.5(LRSAM1): c.249C> T (p.Ile83=) single nucleotide variant Benign rs2243906 GRCh37 Chromosome 9, 130219669: 130219669
38 LRSAM1 NM_138361.5(LRSAM1): c.249C> T (p.Ile83=) single nucleotide variant Benign rs2243906 GRCh38 Chromosome 9, 127457390: 127457390
39 LRSAM1 NM_138361.5(LRSAM1): c.952A> G (p.Asn318Asp) single nucleotide variant Benign rs1539567 GRCh37 Chromosome 9, 130242166: 130242166
40 LRSAM1 NM_138361.5(LRSAM1): c.952A> G (p.Asn318Asp) single nucleotide variant Benign rs1539567 GRCh38 Chromosome 9, 127479887: 127479887
41 LRSAM1 NM_138361.5(LRSAM1): c.1199G> A (p.Arg400Gln) single nucleotide variant Uncertain significance rs150344223 GRCh37 Chromosome 9, 130248054: 130248054
42 LRSAM1 NM_138361.5(LRSAM1): c.1199G> A (p.Arg400Gln) single nucleotide variant Uncertain significance rs150344223 GRCh38 Chromosome 9, 127485775: 127485775
43 LRSAM1 NM_138361.5(LRSAM1): c.904-9C> T single nucleotide variant Benign rs1539568 GRCh37 Chromosome 9, 130242109: 130242109
44 LRSAM1 NM_138361.5(LRSAM1): c.904-9C> T single nucleotide variant Benign rs1539568 GRCh38 Chromosome 9, 127479830: 127479830
45 LRSAM1 NM_138361.5(LRSAM1): c.1504-5C> G single nucleotide variant Uncertain significance rs377190920 GRCh37 Chromosome 9, 130255076: 130255076
46 LRSAM1 NM_138361.5(LRSAM1): c.1504-5C> G single nucleotide variant Uncertain significance rs377190920 GRCh38 Chromosome 9, 127492797: 127492797
47 LRSAM1 NM_138361.5(LRSAM1): c.1912+5A> C single nucleotide variant Benign rs2248822 GRCh37 Chromosome 9, 130259618: 130259618
48 LRSAM1 NM_138361.5(LRSAM1): c.1912+5A> C single nucleotide variant Benign rs2248822 GRCh38 Chromosome 9, 127497339: 127497339
49 LRSAM1 NM_138361.5(LRSAM1): c.284C> T (p.Ala95Val) single nucleotide variant Conflicting interpretations of pathogenicity rs570248730 GRCh37 Chromosome 9, 130221313: 130221313
50 LRSAM1 NM_138361.5(LRSAM1): c.284C> T (p.Ala95Val) single nucleotide variant Conflicting interpretations of pathogenicity rs570248730 GRCh38 Chromosome 9, 127459034: 127459034

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2p.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2p

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2p

Biological processes related to Charcot-Marie-Tooth Disease, Axonal, Type 2p according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein polyubiquitination GO:0000209 8.62 LRSAM1 TRIM2

Molecular functions related to Charcot-Marie-Tooth Disease, Axonal, Type 2p according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase activity GO:0061630 8.62 LRSAM1 TRIM2

Sources for Charcot-Marie-Tooth Disease, Axonal, Type 2p

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