DSMA4
MCID: SPN191
MIFTS: 29

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 (DSMA4)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

MalaCards integrated aliases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

Name: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 57 13 72
Dsma4 57 12 59 74
Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset 12 59
Autosomal Recessive Distal Spinal Muscular Atrophy Type 4 12 59
Distal Spinal Muscular Atrophy, Autosomal Recessive 4 29 6
Distal Spinal Muscular Atrophy Type 4 12 59
Atrophy, Muscular, Spinal, Distal, Autosomal Recessive, Type 4 40
Distal Spinal Muscular Atrophy, Autosomal Recessive, 4 74

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive lower motor neuron disease with childhood onset
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Miscellaneous:
rapidly progressive
onset in early childhood
patients may become ventilator-dependent

Inheritance:
autosomal recessive


HPO:

32
spinal muscular atrophy, distal, autosomal recessive, 4:
Inheritance autosomal recessive inheritance
Onset and clinical course rapidly progressive childhood onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0111213
OMIM 57 611067
MeSH 44 D009134
ICD10 via Orphanet 34 G12.2
UMLS via Orphanet 73 C1970211
Orphanet 59 ORPHA206580
MedGen 42 C1970211
UMLS 72 C1970211

Summaries for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

UniProtKB/Swiss-Prot : 74 Distal spinal muscular atrophy, autosomal recessive, 4: A neuromuscular disorder. Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. DSMA4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent.

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4, also known as dsma4, is related to motor neuron disease and quadriplegia, and has symptoms including waddling gait An important gene associated with Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 is PLEKHG5 (Pleckstrin Homology And RhoGEF Domain Containing G5). Affiliated tissues include spinal cord, and related phenotypes are scoliosis and hyperlordosis

Disease Ontology : 12 An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has material basis in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31.

More information from OMIM: 611067

Related Diseases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Diseases in the Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 family:

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 3
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5

Diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 2, show less)
# Related Disease Score Top Affiliating Genes
1 motor neuron disease 10.3
2 quadriplegia 10.2

Symptoms & Phenotypes for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Human phenotypes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

32 (showing 16, show less)
# Description HPO Frequency HPO Source Accession
1 scoliosis 32 HP:0002650
2 hyperlordosis 32 HP:0003307
3 respiratory insufficiency due to muscle weakness 32 HP:0002747
4 areflexia 32 HP:0001284
5 spinal muscular atrophy 32 HP:0007269
6 waddling gait 32 HP:0002515
7 talipes equinovarus 32 HP:0001762
8 difficulty walking 32 HP:0002355
9 proximal muscle weakness 32 HP:0003701
10 distal amyotrophy 32 HP:0003693
11 difficulty climbing stairs 32 HP:0003551
12 distal muscle weakness 32 HP:0002460
13 emg: neuropathic changes 32 HP:0003445
14 abnormal lower motor neuron morphology 32 HP:0002366
15 joint contracture of the hand 32 HP:0009473
16 scapuloperoneal amyotrophy 32 HP:0003697

Symptoms via clinical synopsis from OMIM:

57
Skeletal Spine:
scoliosis
hyperlordosis

Neurologic Central Nervous System:
waddling gait
proximal muscle weakness
normal mental development
lower motor neuron disease
distal muscle weakness and atrophy due to motor neuronopathy
more
Respiratory:
decreased respiratory function due to muscle weakness

Muscle Soft Tissue:
distal muscle atrophy due to denervation
scapuloperoneal muscular atrophy due to denervation

Neurologic Peripheral Nervous System:
areflexia
normal sensation
sural nerve biopsy shows normal findings

Skeletal Feet:
talipes equinovarus

Skeletal Hands:
contractures, hand and finger muscles

Clinical features from OMIM:

611067

UMLS symptoms related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:


waddling gait

Drugs & Therapeutics for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Genetic Tests for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Genetic tests related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

# Genetic test Affiliating Genes
1 Distal Spinal Muscular Atrophy, Autosomal Recessive 4 29 PLEKHG5

Anatomical Context for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

MalaCards organs/tissues related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

41
Spinal Cord

Publications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Articles related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

(showing 2, show less)
# Title Authors PMID Year
1
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. 38 8 71
17564964 2007
2
A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36. 38 8 71
16728649 2006

Variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

ClinVar genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

6 (showing 204, show less)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PLEKHG5 NM_020631.5(PLEKHG5): c.2362_2363TC[2] (p.Leu789fs) short repeat Pathogenic rs759212541 1:6528529-6528530 1:6468469-6468470
2 PLEKHG5 NM_020631.5(PLEKHG5): c.2053C> T (p.Gln685Ter) single nucleotide variant Pathogenic rs772217003 1:6529298-6529298 1:6469238-6469238
3 PLEKHG5 NM_020631.5(PLEKHG5): c.2542C> T (p.Arg848Ter) single nucleotide variant Pathogenic 1:6528354-6528354 1:6468294-6468294
4 PLEKHG5 NM_020631.5(PLEKHG5): c.453_543del (p.Gly152fs) deletion Pathogenic 1:6534121-6534211 1:6474064-6474154
5 PLEKHG5 NM_020631.5(PLEKHG5): c.1139C> T (p.Ala380Val) single nucleotide variant Pathogenic 1:6531690-6531690 1:6471630-6471630
6 PLEKHG5 NM_020631.5(PLEKHG5): c.1438A> C (p.Met480Leu) single nucleotide variant Likely pathogenic rs1441260635 1:6530899-6530899 1:6470839-6470839
7 PLEKHG5 NM_020631.5(PLEKHG5): c.1940T> C (p.Phe647Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs63750315 1:6529504-6529504 1:6469444-6469444
8 PLEKHG5 NM_020631.5(PLEKHG5): c.440-2A> G single nucleotide variant Conflicting interpretations of pathogenicity rs144750655 1:6534226-6534226 1:6474166-6474166
9 PLEKHG5 NM_020631.5(PLEKHG5): c.1724C> T (p.Pro575Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs77134982 1:6530372-6530372 1:6470312-6470312
10 PLEKHG5 NM_020631.5(PLEKHG5): c.2610G> A (p.Pro870=) single nucleotide variant Conflicting interpretations of pathogenicity rs373880458 1:6528286-6528286 1:6468226-6468226
11 PLEKHG5 NM_020631.5(PLEKHG5): c.1932T> C (p.Pro644=) single nucleotide variant Conflicting interpretations of pathogenicity rs150807400 1:6529605-6529605 1:6469545-6469545
12 PLEKHG5 NM_020631.5(PLEKHG5): c.691G> A (p.Gly231Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs146651455 1:6533415-6533415 1:6473355-6473355
13 PLEKHG5 NM_020631.5(PLEKHG5): c.994C> T (p.Arg332Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs140202670 1:6532673-6532673 1:6472613-6472613
14 PLEKHG5 NM_020631.5(PLEKHG5): c.482T> C (p.Met161Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140817021 1:6534182-6534182 1:6474122-6474122
15 PLEKHG5 NM_020631.5(PLEKHG5): c.307G> A (p.Val103Met) single nucleotide variant Conflicting interpretations of pathogenicity rs141032388 1:6534643-6534643 1:6474583-6474583
16 PLEKHG5 NM_020631.5(PLEKHG5): c.88C> T (p.Arg30Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs111400494 1:6536052-6536052 1:6475992-6475992
17 PLEKHG5 NM_020631.5(PLEKHG5): c.1254C> G (p.Pro418=) single nucleotide variant Conflicting interpretations of pathogenicity rs139904931 1:6531575-6531575 1:6471515-6471515
18 PLEKHG5 NM_020631.5(PLEKHG5): c.2160G> A (p.Glu720=) single nucleotide variant Conflicting interpretations of pathogenicity rs867638588 1:6529191-6529191 1:6469131-6469131
19 PLEKHG5 NM_020631.5(PLEKHG5): c.440-10C> T single nucleotide variant Conflicting interpretations of pathogenicity rs201656051 1:6534234-6534234 1:6474174-6474174
20 PLEKHG5 NM_020631.5(PLEKHG5): c.34C> A (p.Pro12Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs140687324 1:6537598-6537598 1:6477538-6477538
21 PLEKHG5 NM_020631.5(PLEKHG5): c.2433C> T (p.Arg811=) single nucleotide variant Conflicting interpretations of pathogenicity rs759272412 1:6528463-6528463 1:6468403-6468403
22 PLEKHG5 NM_020631.5(PLEKHG5): c.2331C> T (p.Ser777=) single nucleotide variant Conflicting interpretations of pathogenicity rs61749272 1:6528565-6528565 1:6468505-6468505
23 PLEKHG5 NM_020631.5(PLEKHG5): c.2164G> A (p.Glu722Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs201551894 1:6529187-6529187 1:6469127-6469127
24 PLEKHG5 NM_020631.5(PLEKHG5): c.918C> T (p.Asp306=) single nucleotide variant Conflicting interpretations of pathogenicity rs111624565 1:6533112-6533112 1:6473052-6473052
25 PLEKHG5 NM_020631.5(PLEKHG5): c.928G> A (p.Asp310Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs61730399 1:6533102-6533102 1:6473042-6473042
26 PLEKHG5 NM_020631.5(PLEKHG5): c.532G> A (p.Gly178Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs143484278 1:6534132-6534132 1:6474072-6474072
27 PLEKHG5 NM_020631.5(PLEKHG5): c.2634C> T (p.Ser878=) single nucleotide variant Conflicting interpretations of pathogenicity rs367560509 1:6528262-6528262 1:6468202-6468202
28 PLEKHG5 NM_020631.5(PLEKHG5): c.2457C> T (p.Tyr819=) single nucleotide variant Conflicting interpretations of pathogenicity rs184541137 1:6528439-6528439 1:6468379-6468379
29 PLEKHG5 NM_020631.5(PLEKHG5): c.2145_2147GGA[10] (p.Glu722_Glu723dup) short repeat Conflicting interpretations of pathogenicity rs113541584 1:6529183-6529188 1:6469123-6469128
30 PLEKHG5 NM_020631.5(PLEKHG5): c.882C> T (p.Phe294=) single nucleotide variant Conflicting interpretations of pathogenicity rs370572859 1:6533148-6533148 1:6473088-6473088
31 PLEKHG5 NM_020631.5(PLEKHG5): c.2145_2147GGA[9] (p.Glu723dup) short repeat Conflicting interpretations of pathogenicity rs113541584 1:6529183-6529185 1:6469123-6469125
32 PLEKHG5 NM_020631.5(PLEKHG5): c.2691C> T (p.Ala897=) single nucleotide variant Conflicting interpretations of pathogenicity rs755539639 1:6528205-6528205 1:6468145-6468145
33 PLEKHG5 NM_020631.5(PLEKHG5): c.2427C> T (p.Asp809=) single nucleotide variant Conflicting interpretations of pathogenicity rs369876443 1:6528469-6528469 1:6468409-6468409
34 PLEKHG5 NM_020631.5(PLEKHG5): c.2420C> T (p.Pro807Leu) single nucleotide variant Uncertain significance rs371547045 1:6528476-6528476 1:6468416-6468416
35 PLEKHG5 NM_020631.5(PLEKHG5): c.1514C> T (p.Pro505Leu) single nucleotide variant Uncertain significance rs770934745 1:6530823-6530823 1:6470763-6470763
36 PLEKHG5 NM_020631.5(PLEKHG5): c.2975G> A (p.Arg992Lys) single nucleotide variant Uncertain significance 1:6527921-6527921 1:6467861-6467861
37 PLEKHG5 NM_020631.5(PLEKHG5): c.2683C> G (p.Pro895Ala) single nucleotide variant Uncertain significance 1:6528213-6528213 1:6468153-6468153
38 PLEKHG5 NM_020631.5(PLEKHG5): c.1883G> A (p.Arg628Lys) single nucleotide variant Uncertain significance rs144245744 1:6529654-6529654 1:6469594-6469594
39 PLEKHG5 NM_020631.5(PLEKHG5): c.620C> T (p.Ser207Leu) single nucleotide variant Uncertain significance rs572530276 1:6533486-6533486 1:6473426-6473426
40 PLEKHG5 NM_020631.5(PLEKHG5): c.571C> T (p.Arg191Trp) single nucleotide variant Uncertain significance rs183712624 1:6534093-6534093 1:6474033-6474033
41 PLEKHG5 NM_020631.5(PLEKHG5): c.2543G> A (p.Arg848Gln) single nucleotide variant Uncertain significance rs761000380 1:6528353-6528353 1:6468293-6468293
42 PLEKHG5 NM_020631.5(PLEKHG5): c.1112A> C (p.Glu371Ala) single nucleotide variant Uncertain significance 1:6531837-6531837 1:6471777-6471777
43 PLEKHG5 NM_020631.5(PLEKHG5): c.998G> A (p.Arg333Gln) single nucleotide variant Uncertain significance 1:6532669-6532669 1:6472609-6472609
44 PLEKHG5 NM_020631.5(PLEKHG5): c.995G> A (p.Arg332Gln) single nucleotide variant Uncertain significance 1:6532672-6532672 1:6472612-6472612
45 PLEKHG5 NM_020631.5(PLEKHG5): c.745C> T (p.Arg249Cys) single nucleotide variant Uncertain significance 1:6533361-6533361 1:6473301-6473301
46 PLEKHG5 NM_020631.5(PLEKHG5): c.586A> G (p.Ile196Val) single nucleotide variant Uncertain significance 1:6534078-6534078 1:6474018-6474018
47 PLEKHG5 NM_020631.5(PLEKHG5): c.569G> A (p.Arg190His) single nucleotide variant Uncertain significance 1:6534095-6534095 1:6474035-6474035
48 PLEKHG5 NM_020631.5(PLEKHG5): c.2746A> C (p.Thr916Pro) single nucleotide variant Uncertain significance rs187886272 1:6528150-6528150 1:6468090-6468090
49 PLEKHG5 NM_020631.5(PLEKHG5): c.431G> A (p.Arg144His) single nucleotide variant Uncertain significance 1:6534519-6534519 1:6474459-6474459
50 PLEKHG5 NM_020631.5(PLEKHG5): c.148G> C (p.Gly50Arg) single nucleotide variant Uncertain significance 1:6535992-6535992 1:6475932-6475932
51 PLEKHG5 NM_020631.5(PLEKHG5): c.124G> C (p.Glu42Gln) single nucleotide variant Uncertain significance 1:6536016-6536016 1:6475956-6475956
52 PLEKHG5 NM_020631.5(PLEKHG5): c.80G> A (p.Cys27Tyr) single nucleotide variant Uncertain significance 1:6536060-6536060 1:6476000-6476000
53 PLEKHG5 NM_020631.5(PLEKHG5): c.74G> C (p.Arg25Pro) single nucleotide variant Uncertain significance 1:6536066-6536066 1:6476006-6476006
54 PLEKHG5 NM_020631.5(PLEKHG5): c.59G> A (p.Arg20Gln) single nucleotide variant Uncertain significance 1:6536081-6536081 1:6476021-6476021
55 PLEKHG5 NM_020631.5(PLEKHG5): c.3011+6T> C single nucleotide variant Uncertain significance 1:6527879-6527879 1:6467819-6467819
56 PLEKHG5 NM_020631.5(PLEKHG5): c.865C> T (p.Pro289Ser) single nucleotide variant Uncertain significance rs373198302 1:6533165-6533165 1:6473105-6473105
57 PLEKHG5 NM_020631.5(PLEKHG5): c.2431C> T (p.Arg811Cys) single nucleotide variant Uncertain significance rs538561788 1:6528465-6528465 1:6468405-6468405
58 PLEKHG5 NM_020631.5(PLEKHG5): c.83C> T (p.Pro28Leu) single nucleotide variant Uncertain significance rs143585428 1:6536057-6536057 1:6475997-6475997
59 PLEKHG5 NM_020631.5(PLEKHG5): c.274G> A (p.Val92Ile) single nucleotide variant Uncertain significance rs371516662 1:6535135-6535135 1:6475075-6475075
60 PLEKHG5 NM_020631.5(PLEKHG5): c.638C> T (p.Ala213Val) single nucleotide variant Uncertain significance rs367543633 1:6533468-6533468 1:6473408-6473408
61 PLEKHG5 NM_020631.5(PLEKHG5): c.541G> A (p.Ala181Thr) single nucleotide variant Uncertain significance rs527341275 1:6534123-6534123 1:6474063-6474063
62 PLEKHG5 NM_020631.5(PLEKHG5): c.2525G> A (p.Arg842Gln) single nucleotide variant Uncertain significance rs149682441 1:6528371-6528371 1:6468311-6468311
63 PLEKHG5 NM_020631.5(PLEKHG5): c.1738G> A (p.Glu580Lys) single nucleotide variant Uncertain significance rs760122001 1:6530358-6530358 1:6470298-6470298
64 PLEKHG5 NM_020631.5(PLEKHG5): c.1507G> C (p.Glu503Gln) single nucleotide variant Uncertain significance rs868161574 1:6530830-6530830 1:6470770-6470770
65 PLEKHG5 NM_020631.5(PLEKHG5): c.971T> C (p.Ile324Thr) single nucleotide variant Uncertain significance rs746862312 1:6533059-6533059 1:6472999-6472999
66 PLEKHG5 NM_020631.5(PLEKHG5): c.1346T> C (p.Met449Thr) single nucleotide variant Uncertain significance rs1553174146 1:6531096-6531096 1:6471036-6471036
67 PLEKHG5 NM_020631.5(PLEKHG5): c.1270G> A (p.Gly424Ser) single nucleotide variant Uncertain significance rs1366436495 1:6531559-6531559 1:6471499-6471499
68 PLEKHG5 NM_020631.5(PLEKHG5): c.2867G> A (p.Arg956Lys) single nucleotide variant Uncertain significance rs773530688 1:6528029-6528029 1:6467969-6467969
69 PLEKHG5 NM_020631.5(PLEKHG5): c.2720T> C (p.Leu907Pro) single nucleotide variant Uncertain significance rs764378556 1:6528176-6528176 1:6468116-6468116
70 PLEKHG5 NM_020631.5(PLEKHG5): c.2564C> T (p.Ser855Leu) single nucleotide variant Uncertain significance rs768995193 1:6528332-6528332 1:6468272-6468272
71 PLEKHG5 NM_020631.5(PLEKHG5): c.73C> T (p.Arg25Trp) single nucleotide variant Uncertain significance rs377503203 1:6536067-6536067 1:6476007-6476007
72 PLEKHG5 NM_020631.5(PLEKHG5): c.518G> A (p.Arg173Gln) single nucleotide variant Uncertain significance rs142378760 1:6534146-6534146 1:6474086-6474086
73 PLEKHG5 NM_020631.5(PLEKHG5): c.719A> G (p.Asp240Gly) single nucleotide variant Uncertain significance rs199794578 1:6533387-6533387 1:6473327-6473327
74 PLEKHG5 NM_020631.5(PLEKHG5): c.2524C> T (p.Arg842Trp) single nucleotide variant Uncertain significance 1:6528372-6528372 1:6468312-6468312
75 PLEKHG5 NM_020631.5(PLEKHG5): c.1736C> T (p.Pro579Leu) single nucleotide variant Uncertain significance 1:6530360-6530360 1:6470300-6470300
76 PLEKHG5 NM_020631.5(PLEKHG5): c.1286G> C (p.Gly429Ala) single nucleotide variant Uncertain significance 1:6531156-6531156 1:6471096-6471096
77 PLEKHG5 NM_020631.5(PLEKHG5): c.89G> A (p.Arg30His) single nucleotide variant Uncertain significance 1:6536051-6536051 1:6475991-6475991
78 PLEKHG5 NM_020631.5(PLEKHG5): c.2933C> T (p.Ala978Val) single nucleotide variant Uncertain significance 1:6527963-6527963 1:6467903-6467903
79 PLEKHG5 NM_020631.5(PLEKHG5): c.2432G> A (p.Arg811His) single nucleotide variant Uncertain significance 1:6528464-6528464 1:6468404-6468404
80 PLEKHG5 NM_020631.5(PLEKHG5): c.2213T> A (p.Met738Lys) single nucleotide variant Uncertain significance 1:6529138-6529138 1:6469078-6469078
81 PLEKHG5 NM_020631.5(PLEKHG5): c.1519G> A (p.Ala507Thr) single nucleotide variant Uncertain significance 1:6530818-6530818 1:6470758-6470758
82 PLEKHG5 NM_020631.5(PLEKHG5): c.1510G> A (p.Glu504Lys) single nucleotide variant Uncertain significance 1:6530827-6530827 1:6470767-6470767
83 PLEKHG5 NM_020631.5(PLEKHG5): c.1295T> C (p.Phe432Ser) single nucleotide variant Uncertain significance 1:6531147-6531147 1:6471087-6471087
84 PLEKHG5 NM_020631.5(PLEKHG5): c.1264C> T (p.Leu422Phe) single nucleotide variant Uncertain significance 1:6531565-6531565 1:6471505-6471505
85 PLEKHG5 NM_020631.5(PLEKHG5): c.823G> A (p.Gly275Ser) single nucleotide variant Uncertain significance 1:6533207-6533207 1:6473147-6473147
86 PLEKHG5 NM_020631.5(PLEKHG5): c.34C> T (p.Pro12Ser) single nucleotide variant Uncertain significance 1:6537598-6537598 1:6477538-6477538
87 PLEKHG5 NM_020631.5(PLEKHG5): c.2886G> A (p.Ser962=) single nucleotide variant Uncertain significance 1:6528010-6528010 1:6467950-6467950
88 PLEKHG5 NM_020631.5(PLEKHG5): c.2864A> G (p.Lys955Arg) single nucleotide variant Uncertain significance 1:6528032-6528032 1:6467972-6467972
89 PLEKHG5 NM_020631.5(PLEKHG5): c.2578C> T (p.Arg860Cys) single nucleotide variant Uncertain significance 1:6528318-6528318 1:6468258-6468258
90 PLEKHG5 NM_020631.5(PLEKHG5): c.784G> C (p.Ala262Pro) single nucleotide variant Uncertain significance 1:6533322-6533322 1:6473262-6473262
91 PLEKHG5 NM_020631.5(PLEKHG5): c.607C> T (p.Arg203Cys) single nucleotide variant Uncertain significance 1:6533499-6533499 1:6473439-6473439
92 PLEKHG5 NM_020631.5(PLEKHG5): c.495G> C (p.Lys165Asn) single nucleotide variant Uncertain significance 1:6534169-6534169 1:6474109-6474109
93 PLEKHG5 NM_020631.5(PLEKHG5): c.415G> C (p.Gly139Arg) single nucleotide variant Uncertain significance 1:6534535-6534535 1:6474475-6474475
94 PLEKHG5 NM_020631.5(PLEKHG5): c.307G> T (p.Val103Leu) single nucleotide variant Uncertain significance 1:6534643-6534643 1:6474583-6474583
95 PLEKHG5 NM_020631.5(PLEKHG5): c.47C> G (p.Ser16Cys) single nucleotide variant Uncertain significance 1:6536093-6536093 1:6476033-6476033
96 PLEKHG5 NM_020631.5(PLEKHG5): c.1804G> A (p.Asp602Asn) single nucleotide variant Uncertain significance 1:6529733-6529733 1:6469673-6469673
97 PLEKHG5 NM_020631.5(PLEKHG5): c.767C> T (p.Ser256Phe) single nucleotide variant Uncertain significance 1:6533339-6533339 1:6473279-6473279
98 PLEKHG5 NM_020631.5(PLEKHG5): c.707C> T (p.Thr236Ile) single nucleotide variant Uncertain significance 1:6533399-6533399 1:6473339-6473339
99 PLEKHG5 NM_020631.5(PLEKHG5): c.286_288AAG[2] (p.Lys98del) short repeat Uncertain significance 1:6535115-6535117 1:6475055-6475057
100 PLEKHG5 NM_020631.5(PLEKHG5): c.112_114GAG[8] (p.Glu42_Glu43dup) short repeat Uncertain significance 1:6536011-6536016 1:6475951-6475956
101 PLEKHG5 NM_020631.5(PLEKHG5): c.86C> T (p.Pro29Leu) single nucleotide variant Uncertain significance 1:6536054-6536054 1:6475994-6475994
102 PLEKHG5 NM_020631.5(PLEKHG5): c.1598_1612del (p.Gln533_Arg537del) deletion Uncertain significance 1:6530633-6530648 1:6470585-6470599
103 PLEKHG5 NM_020631.5(PLEKHG5): c.2999C> T (p.Thr1000Met) single nucleotide variant Uncertain significance 1:6527897-6527897 1:6467837-6467837
104 PLEKHG5 NM_020631.5(PLEKHG5): c.2932G> C (p.Ala978Pro) single nucleotide variant Uncertain significance 1:6527964-6527964 1:6467904-6467904
105 PLEKHG5 NM_020631.5(PLEKHG5): c.2827G> A (p.Gly943Ser) single nucleotide variant Uncertain significance 1:6528069-6528069 1:6468009-6468009
106 PLEKHG5 NM_020631.5(PLEKHG5): c.2789G> T (p.Arg930Leu) single nucleotide variant Uncertain significance 1:6528107-6528107 1:6468047-6468047
107 PLEKHG5 NM_020631.5(PLEKHG5): c.2664G> T (p.Gly888=) single nucleotide variant Uncertain significance 1:6528232-6528232 1:6468172-6468172
108 PLEKHG5 NM_020631.5(PLEKHG5): c.2575C> T (p.Arg859Cys) single nucleotide variant Uncertain significance 1:6528321-6528321 1:6468261-6468261
109 PLEKHG5 NM_020631.5(PLEKHG5): c.2438G> A (p.Cys813Tyr) single nucleotide variant Uncertain significance 1:6528458-6528458 1:6468398-6468398
110 PLEKHG5 NM_020631.5(PLEKHG5): c.2428G> T (p.Gly810Cys) single nucleotide variant Uncertain significance 1:6528468-6528468 1:6468408-6468408
111 PLEKHG5 NM_020631.5(PLEKHG5): c.2421G> A (p.Pro807=) single nucleotide variant Uncertain significance 1:6528475-6528475 1:6468415-6468415
112 PLEKHG5 NM_020631.5(PLEKHG5): c.2411C> T (p.Pro804Leu) single nucleotide variant Uncertain significance 1:6528485-6528485 1:6468425-6468425
113 PLEKHG5 NM_020631.5(PLEKHG5): c.2279C> T (p.Ala760Val) single nucleotide variant Uncertain significance 1:6528617-6528617 1:6468557-6468557
114 PLEKHG5 NM_020631.5(PLEKHG5): c.2244G> C (p.Gln748His) single nucleotide variant Uncertain significance 1:6529107-6529107 1:6469047-6469047
115 PLEKHG5 NM_020631.5(PLEKHG5): c.2215C> T (p.Arg739Trp) single nucleotide variant Uncertain significance 1:6529136-6529136 1:6469076-6469076
116 PLEKHG5 NM_020631.5(PLEKHG5): c.2138A> C (p.Glu713Ala) single nucleotide variant Uncertain significance 1:6529213-6529213 1:6469153-6469153
117 PLEKHG5 NM_020631.5(PLEKHG5): c.2042A> G (p.Asn681Ser) single nucleotide variant Uncertain significance 1:6529402-6529402 1:6469342-6469342
118 PLEKHG5 NM_020631.5(PLEKHG5): c.1414T> G (p.Cys472Gly) single nucleotide variant Uncertain significance 1:6530923-6530923 1:6470863-6470863
119 PLEKHG5 NM_020631.5(PLEKHG5): c.1360C> T (p.Arg454Cys) single nucleotide variant Uncertain significance 1:6531082-6531082 1:6471022-6471022
120 PLEKHG5 NM_020631.5(PLEKHG5): c.1304A> G (p.Tyr435Cys) single nucleotide variant Uncertain significance 1:6531138-6531138 1:6471078-6471078
121 PLEKHG5 NM_020631.5(PLEKHG5): c.1280T> C (p.Met427Thr) single nucleotide variant Uncertain significance 1:6531549-6531549 1:6471489-6471489
122 PLEKHG5 NM_020631.5(PLEKHG5): c.1170C> G (p.Ile390Met) single nucleotide variant Uncertain significance 1:6531659-6531659 1:6471599-6471599
123 PLEKHG5 NM_020631.5(PLEKHG5): c.2506A> G (p.Met836Val) single nucleotide variant Uncertain significance rs752621606 1:6528390-6528390 1:6468330-6468330
124 PLEKHG5 NM_020631.5(PLEKHG5): c.2837C> T (p.Ala946Val) single nucleotide variant Uncertain significance rs751158651 1:6528059-6528059 1:6467999-6467999
125 PLEKHG5 NM_020631.5(PLEKHG5): c.2017C> T (p.Arg673Cys) single nucleotide variant Uncertain significance rs747057331 1:6529427-6529427 1:6469367-6469367
126 PLEKHG5 NM_020631.5(PLEKHG5): c.2698C> T (p.Arg900Cys) single nucleotide variant Uncertain significance rs750132016 1:6528198-6528198 1:6468138-6468138
127 PLEKHG5 NM_020631.5(PLEKHG5): c.2233C> A (p.Pro745Thr) single nucleotide variant Uncertain significance rs756501907 1:6529118-6529118 1:6469058-6469058
128 PLEKHG5 NM_020631.5(PLEKHG5): c.2156_2157insAGA (p.Glu723dup) insertion Uncertain significance rs1553173388 1:6529194-6529195 1:6469134-6469135
129 PLEKHG5 NM_020631.5(PLEKHG5): c.1697T> A (p.Leu566Gln) single nucleotide variant Uncertain significance rs376513313 1:6530399-6530399 1:6470339-6470339
130 PLEKHG5 NM_020631.5(PLEKHG5): c.1681-9C> G single nucleotide variant Uncertain significance rs373133607 1:6530424-6530424 1:6470364-6470364
131 PLEKHG5 NM_020631.5(PLEKHG5): c.572G> A (p.Arg191Gln) single nucleotide variant Uncertain significance rs541234129 1:6534092-6534092 1:6474032-6474032
132 PLEKHG5 NM_020631.5(PLEKHG5): c.412T> C (p.Phe138Leu) single nucleotide variant Uncertain significance rs1302453044 1:6534538-6534538 1:6474478-6474478
133 PLEKHG5 NM_020631.5(PLEKHG5): c.2713C> T (p.Leu905Phe) single nucleotide variant Uncertain significance rs774696513 1:6528183-6528183 1:6468123-6468123
134 PLEKHG5 NM_020631.5(PLEKHG5): c.2390C> T (p.Thr797Met) single nucleotide variant Uncertain significance rs111724922 1:6528506-6528506 1:6468446-6468446
135 PLEKHG5 NM_020631.5(PLEKHG5): c.2212A> G (p.Met738Val) single nucleotide variant Uncertain significance rs778686532 1:6529139-6529139 1:6469079-6469079
136 PLEKHG5 NM_020631.5(PLEKHG5): c.1379G> A (p.Arg460Gln) single nucleotide variant Uncertain significance rs1309731055 1:6531063-6531063 1:6471003-6471003
137 PLEKHG5 NM_020631.5(PLEKHG5): c.997C> T (p.Arg333Trp) single nucleotide variant Uncertain significance rs148232621 1:6532670-6532670 1:6472610-6472610
138 PLEKHG5 NM_020631.5(PLEKHG5): c.2789G> A (p.Arg930Gln) single nucleotide variant Uncertain significance rs376237905 1:6528107-6528107 1:6468047-6468047
139 PLEKHG5 NM_020631.5(PLEKHG5): c.1082T> G (p.Leu361Arg) single nucleotide variant Uncertain significance rs762368406 1:6531867-6531867 1:6471807-6471807
140 PLEKHG5 NM_020631.5(PLEKHG5): c.1705G> A (p.Asp569Asn) single nucleotide variant Uncertain significance rs200641225 1:6530391-6530391 1:6470331-6470331
141 PLEKHG5 NM_020631.5(PLEKHG5): c.2160_2163delinsA (p.Glu723del) indel Uncertain significance rs386628081 1:6529188-6529191 1:6469128-6469131
142 PLEKHG5 NM_020631.5(PLEKHG5): c.1840G> C (p.Val614Leu) single nucleotide variant Uncertain significance rs752514480 1:6529697-6529697 1:6469637-6469637
143 PLEKHG5 NM_020631.5(PLEKHG5): c.1741G> A (p.Glu581Lys) single nucleotide variant Uncertain significance rs267598690 1:6530355-6530355 1:6470295-6470295
144 PLEKHG5 NM_020631.5(PLEKHG5): c.1616C> T (p.Ala539Val) single nucleotide variant Uncertain significance rs370515061 1:6530630-6530630 1:6470570-6470570
145 PLEKHG5 NM_020631.5(PLEKHG5): c.1729G> A (p.Ala577Thr) single nucleotide variant Uncertain significance rs143545780 1:6530367-6530367 1:6470307-6470307
146 PLEKHG5 NM_020631.5(PLEKHG5): c.1066C> T (p.Arg356Trp) single nucleotide variant Uncertain significance rs764053619 1:6532601-6532601 1:6472541-6472541
147 PLEKHG5 NM_020631.5(PLEKHG5): c.877C> T (p.Arg293Cys) single nucleotide variant Uncertain significance rs374645103 1:6533153-6533153 1:6473093-6473093
148 PLEKHG5 NM_020631.5(PLEKHG5): c.161G> A (p.Ser54Asn) single nucleotide variant Uncertain significance rs376703933 1:6535571-6535571 1:6475511-6475511
149 PLEKHG5 NM_020631.5(PLEKHG5): c.1783G> C (p.Glu595Gln) single nucleotide variant Uncertain significance rs140597591 1:6530313-6530313 1:6470253-6470253
150 PLEKHG5 NM_020631.5(PLEKHG5): c.1610G> A (p.Arg537Gln) single nucleotide variant Uncertain significance rs1322468026 1:6530636-6530636 1:6470576-6470576
151 PLEKHG5 NM_020631.5(PLEKHG5): c.1081-3C> T single nucleotide variant Uncertain significance rs772519809 1:6531871-6531871 1:6471811-6471811
152 PLEKHG5 NM_020631.5(PLEKHG5): c.168C> T (p.Gly56=) single nucleotide variant Uncertain significance rs1366828227 1:6535564-6535564 1:6475504-6475504
153 PLEKHG5 NM_020631.5(PLEKHG5): c.2728C> T (p.Pro910Ser) single nucleotide variant Uncertain significance rs1334075760 1:6528168-6528168 1:6468108-6468108
154 PLEKHG5 NM_020631.5(PLEKHG5): c.2435C> T (p.Ser812Phe) single nucleotide variant Uncertain significance rs145009237 1:6528461-6528461 1:6468401-6468401
155 PLEKHG5 NM_020631.5(PLEKHG5): c.2489T> C (p.Phe830Ser) single nucleotide variant Uncertain significance rs764007395 1:6528407-6528407 1:6468347-6468347
156 PLEKHG5 NM_020631.5(PLEKHG5): c.2131C> G (p.Gln711Glu) single nucleotide variant Uncertain significance rs761272621 1:6529220-6529220 1:6469160-6469160
157 PLEKHG5 NM_020631.5(PLEKHG5): c.302+6G> A single nucleotide variant Uncertain significance rs1553175409 1:6535101-6535101 1:6475041-6475041
158 PLEKHG5 NM_020631.5(PLEKHG5): c.82C> T (p.Pro28Ser) single nucleotide variant Uncertain significance rs373539850 1:6536058-6536058 1:6475998-6475998
159 PLEKHG5 NM_020631.5(PLEKHG5): c.2268G> A (p.Thr756=) single nucleotide variant Uncertain significance rs757831916 1:6528628-6528628 1:6468568-6468568
160 PLEKHG5 NM_020631.4(PLEKHG5): c.1681-27_1681-3dup duplication Uncertain significance rs748372368 1:6530418-6530442 1:6470358-6470382
161 PLEKHG5 NM_020631.5(PLEKHG5): c.1513C> T (p.Pro505Ser) single nucleotide variant Uncertain significance rs530846615 1:6530824-6530824 1:6470764-6470764
162 PLEKHG5 NM_020631.5(PLEKHG5): c.2227G> A (p.Gly743Ser) single nucleotide variant Uncertain significance rs145073653 1:6529124-6529124 1:6469064-6469064
163 PLEKHG5 NM_020631.5(PLEKHG5): c.38C> T (p.Pro13Leu) single nucleotide variant Uncertain significance rs776271244 1:6537594-6537594 1:6477534-6477534
164 PLEKHG5 NM_020631.5(PLEKHG5): c.1535T> A (p.Val512Asp) single nucleotide variant Uncertain significance rs548243654 1:6530802-6530802 1:6470742-6470742
165 PLEKHG5 NM_020631.5(PLEKHG5): c.1396G> C (p.Ala466Pro) single nucleotide variant Uncertain significance rs757292650 1:6530941-6530941 1:6470881-6470881
166 PLEKHG5 NM_020631.5(PLEKHG5): c.931A> C (p.Asn311His) single nucleotide variant Uncertain significance rs146020517 1:6533099-6533099 1:6473039-6473039
167 PLEKHG5 NM_020631.5(PLEKHG5): c.916G> A (p.Asp306Asn) single nucleotide variant Uncertain significance rs781614887 1:6533114-6533114 1:6473054-6473054
168 PLEKHG5 NM_020631.5(PLEKHG5): c.414C> T (p.Phe138=) single nucleotide variant Likely benign rs375075005 1:6534536-6534536 1:6474476-6474476
169 PLEKHG5 NM_020631.5(PLEKHG5): c.2361C> T (p.Thr787=) single nucleotide variant Likely benign rs201054338 1:6528535-6528535 1:6468475-6468475
170 PLEKHG5 NM_020631.5(PLEKHG5): c.474G> A (p.Glu158=) single nucleotide variant Likely benign rs751440606 1:6534190-6534190 1:6474130-6474130
171 PLEKHG5 NM_020631.5(PLEKHG5): c.1575G> C (p.Val525=) single nucleotide variant Likely benign rs1488054852 1:6530671-6530671 1:6470611-6470611
172 PLEKHG5 NM_020631.5(PLEKHG5): c.1681-8G> C single nucleotide variant Likely benign rs139041955 1:6530423-6530423 1:6470363-6470363
173 PLEKHG5 NM_020631.5(PLEKHG5): c.2538C> A (p.Ser846=) single nucleotide variant Likely benign rs776995250 1:6528358-6528358 1:6468298-6468298
174 PLEKHG5 NM_020631.5(PLEKHG5): c.1236G> A (p.Thr412=) single nucleotide variant Likely benign rs376823275 1:6531593-6531593 1:6471533-6471533
175 PLEKHG5 NM_020631.5(PLEKHG5): c.2226C> T (p.Ser742=) single nucleotide variant Likely benign rs370761668 1:6529125-6529125 1:6469065-6469065
176 PLEKHG5 NM_020631.5(PLEKHG5): c.2319C> G (p.Pro773=) single nucleotide variant Likely benign rs80031446 1:6528577-6528577 1:6468517-6468517
177 PLEKHG5 NM_020631.5(PLEKHG5): c.1023G> A (p.Val341=) single nucleotide variant Likely benign rs199903533 1:6532644-6532644 1:6472584-6472584
178 PLEKHG5 NM_020631.5(PLEKHG5): c.783C> T (p.Ser261=) single nucleotide variant Likely benign rs61738905 1:6533323-6533323 1:6473263-6473263
179 PLEKHG5 NM_020631.5(PLEKHG5): c.639G> A (p.Ala213=) single nucleotide variant Likely benign rs560366406 1:6533467-6533467 1:6473407-6473407
180 PLEKHG5 NM_020631.5(PLEKHG5): c.186G> A (p.Lys62=) single nucleotide variant Likely benign rs372405586 1:6535546-6535546 1:6475486-6475486
181 PLEKHG5 NM_020631.5(PLEKHG5): c.509C> T (p.Pro170Leu) single nucleotide variant Likely benign rs59117380 1:6534155-6534155 1:6474095-6474095
182 PLEKHG5 NM_020631.5(PLEKHG5): c.1647G> A (p.Glu549=) single nucleotide variant Likely benign rs770781624 1:6530599-6530599 1:6470539-6470539
183 PLEKHG5 NM_020631.5(PLEKHG5): c.1019C> T (p.Ala340Val) single nucleotide variant Likely benign rs72861528 1:6532648-6532648 1:6472588-6472588
184 PLEKHG5 NM_020631.5(PLEKHG5): c.1707C> T (p.Asp569=) single nucleotide variant Likely benign rs1033319065 1:6530389-6530389 1:6470329-6470329
185 PLEKHG5 NM_020631.5(PLEKHG5): c.2124G> A (p.Glu708=) single nucleotide variant Likely benign rs370521517 1:6529227-6529227 1:6469167-6469167
186 PLEKHG5 NM_020631.5(PLEKHG5): c.2070T> C (p.Arg690=) single nucleotide variant Likely benign rs141100808 1:6529281-6529281 1:6469221-6469221
187 PLEKHG5 NM_020631.5(PLEKHG5): c.1098C> G (p.Leu366=) single nucleotide variant Likely benign rs1553174372 1:6531851-6531851 1:6471791-6471791
188 PLEKHG5 NM_020631.5(PLEKHG5): c.64G> A (p.Val22Met) single nucleotide variant Likely benign rs112530241 1:6536076-6536076 1:6476016-6476016
189 PLEKHG5 NM_020631.5(PLEKHG5): c.260T> C (p.Ile87Thr) single nucleotide variant Benign/Likely benign rs117505788 1:6535149-6535149 1:6475089-6475089
190 PLEKHG5 NM_020631.5(PLEKHG5): c.30C> T (p.Asp10=) single nucleotide variant Benign/Likely benign rs114209691 1:6537602-6537602 1:6477542-6477542
191 PLEKHG5 NM_020631.5(PLEKHG5): c.2576G> A (p.Arg859His) single nucleotide variant Benign/Likely benign rs61737997 1:6528320-6528320 1:6468260-6468260
192 PLEKHG5 NM_020631.5(PLEKHG5): c.2827G> C (p.Gly943Arg) single nucleotide variant Benign/Likely benign rs114619322 1:6528069-6528069 1:6468009-6468009
193 PLEKHG5 NM_020631.5(PLEKHG5): c.2458G> A (p.Gly820Ser) single nucleotide variant Benign/Likely benign rs202191898 1:6528438-6528438 1:6468378-6468378
194 PLEKHG5 NM_020631.5(PLEKHG5): c.2594A> G (p.Gln865Arg) single nucleotide variant Benign/Likely benign rs3007419 1:6528302-6528302 1:6468242-6468242
195 PLEKHG5 NM_020631.5(PLEKHG5): c.1818C> T (p.Phe606=) single nucleotide variant Benign/Likely benign rs149147021 1:6529719-6529719 1:6469659-6469659
196 PLEKHG5 NM_020631.5(PLEKHG5): c.795+8G> A single nucleotide variant Benign/Likely benign rs114275646 1:6533303-6533303 1:6473243-6473243
197 PLEKHG5 NM_020631.5(PLEKHG5): c.495G> A (p.Lys165=) single nucleotide variant Benign/Likely benign rs150772386 1:6534169-6534169 1:6474109-6474109
198 PLEKHG5 NM_020631.5(PLEKHG5): c.440-6A> G single nucleotide variant Benign rs202049535 1:6534230-6534230 1:6474170-6474170
199 PLEKHG5 NM_020631.5(PLEKHG5): c.2581C> T (p.Arg861Cys) single nucleotide variant Benign rs148560273 1:6528315-6528315 1:6468255-6468255
200 PLEKHG5 NM_020631.5(PLEKHG5): c.771C> G (p.Gly257=) single nucleotide variant Benign rs200400689 1:6533335-6533335 1:6473275-6473275
201 PLEKHG5 NM_020631.5(PLEKHG5): c.87G> A (p.Pro29=) single nucleotide variant Benign rs140892576 1:6536053-6536053 1:6475993-6475993
202 PLEKHG5 NM_020631.5(PLEKHG5): c.302+10_302+11delinsTT indel Benign rs1553175406 1:6535096-6535097 1:6475036-6475037
203 PLEKHG5 NM_020631.5(PLEKHG5): c.2145_2147GGA[6] (p.Glu722_Glu723del) short repeat Benign rs113541584 1:6529183-6529188 1:6469123-6469128
204 PLEKHG5 NM_020631.5(PLEKHG5): c.2319C> T (p.Pro773=) single nucleotide variant Benign rs80031446 1:6528577-6528577 1:6468517-6468517

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4:

74 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 PLEKHG5 p.Phe703Ser VAR_035357 rs63750315

Expression for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4.

Pathways for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

GO Terms for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

Sources for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4

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