DSMA1
MCID: SPN408
MIFTS: 49

Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 (DSMA1)

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

Aliases & Classifications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

MalaCards integrated aliases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:

Name: Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 56 52 29 6 37
Smard1 56 12 52 25 58 73 54
Sianrf 56 12 52 25 58 73
Dsma1 56 12 52 25 58 73
Dhmn6 56 12 25 58 73
Severe Infantile Axonal Neuropathy with Respiratory Failure 56 52 25 73
Spinal Muscular Atrophy with Respiratory Distress Type 1 12 74 25 58
Spinal Muscular Atrophy with Respiratory Distress 1 56 52 73 71
Diaphragmatic Spinal Muscular Atrophy 12 25 58 73
Hmn6 56 52 25 73
Autosomal Recessive Distal Spinal Muscular Atrophy 1 12 25 15
Neuronopathy, Distal Hereditary Motor, Type Vi 56 52 13
Hmn Vi 56 52 73
Autosomal Recessive Spinal Muscular Atrophy with Respiratory Distress 12 58
Severe Infantile Axonal Neuropathy with Respiratory Failure Type 1 12 58
Neuronopathy, Severe Infantile Axonal, with Respiratory Failure 56 52
Distal Hereditary Motor Neuropathy Type 6 12 58
Distal-Hmn Type 6 12 58
Severe Infantile Axonal Neuropathy with Respiratory Failure; Sianrf 56
Severe Infantile Axonal Neuronopathy with Respiratory Failure 73
Spinal Muscular Atrophy with Respiratory Distress 1; Smard1 56
Autosomal Recessive Distal Spinal Muscular Atrophy Type 1 58
Neuronopathy, Distal Hereditary Motor, Type Vi; Dhmn6 56
Spinal Muscular Atrophy Distal Autosomal Recessive 1 73
Spinal Muscular Atrophy with Respiratory Distress 25
Distal Hereditary Motor Neuronopathy Type Vi 25
Distal Hereditary Motor Neuropathy Type Vi 73
Atrophy, Muscular, Spinal, Distal, Type 1 39
Neuronopathy, Distal Hereditary Motor, 6 73
Spinal Muscular Atrophy, Diaphragmatic 56
Distal Spinal Muscular Atrophy Type 1 25
Distal Spinal Muscular Atrophy 1 12
Dhmn Vi 73
Hmnvi 25

Characteristics:

Orphanet epidemiological data:

58
spinal muscular atrophy with respiratory distress type 1
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset within the first 3 months of life
death usually occurs by 12 months of life


HPO:

31
spinal muscular atrophy, distal, autosomal recessive, 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Genetics Home Reference : 25 Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is an inherited condition that causes muscle weakness and respiratory failure typically beginning in infancy. Early features of this condition are difficult and noisy breathing, especially when inhaling; a weak cry; problems feeding; and recurrent episodes of pneumonia. Typically between the ages of 6 weeks and 6 months, infants with this condition will experience a sudden inability to breathe due to paralysis of the muscle that separates the abdomen from the chest cavity (the diaphragm). Normally, the diaphragm contracts and moves downward during inhalation to allow the lungs to expand. With diaphragm paralysis, affected individuals require life-long support with a machine to help them breathe (mechanical ventilation). Rarely, children with SMARD1 develop signs or symptoms of the disorder later in childhood. Soon after respiratory failure occurs, individuals with SMARD1 develop muscle weakness in their distal muscles. These are the muscles farther from the center of the body, such as muscles in the hands and feet. The weakness soon spreads to all muscles; however, within 2 years, the muscle weakness typically stops getting worse. Some individuals may retain a low level of muscle function, while others lose all ability to move their muscles. Muscle weakness severely impairs motor development, such as sitting, standing, and walking. Some affected children develop an abnormal side-to-side and back-to-front curvature of the spine (scoliosis and kyphosis, often called kyphoscoliosis when they occur together). After approximately the first year of life, individuals with SMARD1 may lose their deep tendon reflexes, such as the reflex being tested when a doctor taps the knee with a hammer. Other features of SMARD1 can include reduced pain sensitivity, excessive sweating (hyperhidrosis), loss of bladder and bowel control, and an irregular heartbeat (arrhythmia).

MalaCards based summary : Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1, also known as smard1, is related to charcot-marie-tooth hereditary neuropathy and muscular atrophy, and has symptoms including constipation and inspiratory stridor. An important gene associated with Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 is IGHMBP2 (Immunoglobulin Mu DNA Binding Protein 2), and among its related pathways/superpathways is RNA transport. Affiliated tissues include Neural Tube, and related phenotypes are failure to thrive and hyperhidrosis

Disease Ontology : 12 A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has material basis in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13.

UniProtKB/Swiss-Prot : 73 Neuronopathy, distal hereditary motor, 6: A neuromuscular disorder. Distal hereditary motor neuronopathies constitute 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.

Wikipedia : 74 Distal spinal muscular atrophy type 1 (DSMA1), is a rare neuromuscular disorder involving death of motor... more...

More information from OMIM: 604320

Related Diseases for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

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, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 61, show less)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth hereditary neuropathy 31.0 SETX MORC2 IGHMBP2
2 muscular atrophy 30.5 SMN2 SMN1 SETX MORC2 IGHMBP2
3 diaphragmatic eventration 30.5 LAS1L IGHMBP2
4 distal hereditary motor neuropathies 30.5 SETX MORC2 IGHMBP2
5 spinal muscular atrophy, type i 30.5 SMN2 SMN1 LAS1L IGHMBP2
6 proximal spinal muscular atrophy 30.5 SMN2 SMN1 SETX
7 anterior horn cell disease 30.5 SMN2 SMN1 IGHMBP2
8 spinal muscular atrophy 30.2 UPF1 SMN2 SMN1 SETX MORC2 IGHMBP2
9 motor neuron disease 30.2 SMN2 SMN1 SLC52A2 SETX
10 spinal muscular atrophy with respiratory distress type 2 11.7
11 neuromuscular disease 10.4
12 neonatal myasthenia gravis 10.4 LAS1L IGHMBP2
13 spinal muscular atrophy, type ii 10.4 SMN2 SMN1
14 hypertonia 10.4
15 hypotonia 10.3
16 culler-jones syndrome 10.3 SMN2 SMN1
17 nephrolithiasis/osteoporosis, hypophosphatemic, 2 10.3 SMN2 SMN1
18 autosomal recessive disease 10.3
19 respiratory failure 10.3
20 amelogenesis imperfecta, type ia 10.3 SMN2 SMN1
21 mitochondrial dna depletion syndrome 2 10.3 MORC2 LAS1L
22 mitochondrial dna depletion syndrome 3 10.3 MORC2 LAS1L
23 survival motor neuron spinal muscular atrophy 10.2 SMN2 SMN1 IGHMBP2
24 spinal muscular atrophy, type iv 10.2 SMN2 SMN1
25 spinal muscular atrophy, type iii 10.2 SMN2 SMN1 IGHMBP2
26 hydrocephalus 10.2
27 sensory peripheral neuropathy 10.2
28 tracheobronchomalacia 10.2
29 dysautonomia 10.2
30 genetic motor neuron disease 10.2
31 progressive muscular atrophy 10.2 SMN2 SMN1
32 myopathy 10.2
33 juvenile amyotrophic lateral sclerosis 10.2 UPF1 SETX IGHMBP2
34 neuropathy 10.2
35 spinal disease 10.1 SMN2 SMN1
36 axonal neuropathy 10.1
37 infantile axonal neuropathy 10.1
38 severe infantile axonal neuropathy 10.1
39 microcephaly 10.1
40 polyneuropathy 10.1
41 hypothyroidism 10.1
42 congenital contractures 10.1
43 cerebral atrophy 10.1
44 amyotrophic lateral sclerosis 4, juvenile 10.1 SETX IGHMBP2
45 cardiac arrhythmia 10.0
46 myopathy, congenital 10.0
47 sudden infant death syndrome 10.0
48 spinal muscular atrophy, x-linked 2 10.0
49 lissencephaly 1 10.0
50 myopathy, areflexia, respiratory distress, and dysphagia, early-onset 10.0
51 alkuraya-kucinskas syndrome 10.0
52 distal arthrogryposis 10.0
53 clubfoot 10.0
54 peripheral nervous system disease 10.0
55 myocarditis 10.0
56 wallerian degeneration 10.0
57 congenital amyoplasia 10.0
58 brown-vialetto-van laere syndrome 10.0 SLC52A2 MORC2 IGHMBP2
59 neuropathy, hereditary sensory and autonomic, type iii 9.9 SMN2 SMN1
60 motor peripheral neuropathy 9.8 SETX REEP1 IGHMBP2
61 charcot-marie-tooth disease 9.2 SMN2 SMN1 SETX REEP1 MORC2 IGHMBP2

Graphical network of the top 20 diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:



Diseases related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Symptoms & Phenotypes for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Human phenotypes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:

31 (showing 28, show less)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 HP:0001508
2 hyperhidrosis 31 HP:0000975
3 constipation 31 HP:0002019
4 intrauterine growth retardation 31 HP:0001511
5 spinal muscular atrophy 31 HP:0007269
6 decreased nerve conduction velocity 31 HP:0000762
7 talipes equinovarus 31 HP:0001762
8 respiratory failure 31 HP:0002878
9 hyporeflexia 31 HP:0001265
10 decreased fetal movement 31 HP:0001558
11 weak cry 31 HP:0001612
12 camptodactyly of finger 31 HP:0100490
13 premature birth 31 HP:0001622
14 distal amyotrophy 31 HP:0003693
15 limb muscle weakness 31 HP:0003690
16 urinary incontinence 31 HP:0000020
17 diaphragmatic paralysis 31 HP:0006597
18 distal muscle weakness 31 HP:0002460
19 tachypnea 31 HP:0002789
20 small for gestational age 31 HP:0001518
21 emg: neuropathic changes 31 HP:0003445
22 ventilator dependence with inability to wean 31 HP:0005946
23 degeneration of anterior horn cells 31 HP:0002398
24 axonal degeneration 31 HP:0040078
25 diaphragmatic eventration 31 HP:0009110
26 inspiratory stridor 31 HP:0005348
27 peripheral axonal degeneration 31 HP:0000764
28 denervation of the diaphragm 31 HP:0009109

Symptoms via clinical synopsis from OMIM:

56
Growth Other:
failure to thrive

Respiratory:
respiratory failure
tachypnea
ventilar dependence with inability to wean

Respiratory Airways:
weak cry
inspiratory stridor

Prenatal Manifestations Delivery:
premature delivery

Skeletal Feet:
foot deformities
pes equinus

Neurologic Central Nervous System:
degeneration of alpha-motor neurons in anterior horn cells of the spinal cord

Neurologic Peripheral Nervous System:
constipation
hyporeflexia
bladder incontinence
emg shows neurogenic changes
distal muscle weakness and atrophy (begins in lower limbs)
more
Prenatal Manifestations Movement:
decreased fetal movement

Chest Diaphragm:
diaphragmatic paralysis
diaphragmatic weakness
denervation of the diaphragm
eventration of the right or both hemidiaphragms
thin diaphragm
more
Skeletal Hands:
finger contractures

Growth Weight:
low birth weight

Prenatal Manifestations:
intrauterine growth retardation (less than tenth percentile)

Clinical features from OMIM:

604320

UMLS symptoms related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:


constipation, inspiratory stridor

Drugs & Therapeutics for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Search Clinical Trials , NIH Clinical Center for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Stem-cell-based therapeutic approaches for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:
Neural stem cell-derived motoneurons for treatment of spinal muscular atrophy
Embryonic/Adult Cultured Cells Related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:
Motor neuron progenitors

Genetic Tests for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Genetic tests related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:

# Genetic test Affiliating Genes
1 Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 29 IGHMBP2

Anatomical Context for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

MalaCards organs/tissues related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:

40
Spinal Cord, Lung, Testes, Bone, Skeletal Muscle
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:
# Tissue Anatomical CompartmentCell Relevance
1 Neural Tube Motor Neural Progenitor Domain Motor Neural Progenitor Cells Potential therapeutic candidate
2 Neural Tube Motor Neural Progenitor Domain Motor Neurons Affected by disease

Publications for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Articles related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:

(showing 81, show less)
# Title Authors PMID Year
1
Interfamilial phenotypic heterogeneity in SMARD1. 54 61 56
19157874 2009
2
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. 54 61 56
17431882 2007
3
Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1. 54 61 56
15290238 2004
4
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). 54 61 56
14681881 2003
5
Severe infantile neuropathy with diaphragmatic weakness and its relationship to SMARD1. 61 56
14506069 2003
6
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. 61 56
11528396 2001
7
IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1). 56
19158098 2009
8
Consensus statement for standard of care in spinal muscular atrophy. 6
17761659 2007
9
Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21. 56
10521314 1999
10
Identification of the mouse neuromuscular degeneration gene and mapping of a second site suppressor allele. 56
9883726 1998
11
Clinical spectrum and diagnostic criteria of infantile spinal muscular atrophy: further delineation on the basis of SMN gene deletion findings. 56
8677029 1996
12
The mouse mutation progressive motor neuronopathy (pmn) maps to chromosome 13. 56
8530062 1995
13
Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13. 56
7783173 1995
14
A new mouse mutant with progressive motor neuronopathy. 56
2022963 1991
15
Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy. 56
2801766 1989
16
Respiratory distress as the initial manifestation of Werdnig-Hoffmann disease. 56
4809192 1974
17
Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. 54 61
19299493 2009
18
Genetic carrier screening for spinal muscular atrophy and spinal muscular atrophy with respiratory distress 1 in an isolated population in Israel. 54 61
18298318 2008
19
Spinal muscular atrophy with respiratory distress type 1 (SMARD1). 54 61
18263757 2008
20
A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus. 54 61
17236770 2007
21
Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1. 54 61
16964485 2006
22
Characterization of Ighmbp2 in motor neurons and implications for the pathomechanism in a mouse model of human spinal muscular atrophy with respiratory distress type 1 (SMARD1). 54 61
15269181 2004
23
Long-term observations of patients with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). 54 61
15248100 2004
24
Allelic heterogeneity of SMARD1 at the IGHMBP2 locus. 54 61
15108294 2004
25
Spinal muscular atrophy with respiratory distress type 1: Clinical phenotypes, molecular pathogenesis and therapeutic insights. 61
31802621 2020
26
Development of a novel severe mouse model of spinal muscular atrophy with respiratory distress type 1: FVB-nmd. 61
31604525 2019
27
CSF transplantation of a specific iPSC-derived neural stem cell subpopulation ameliorates the disease phenotype in a mouse model of spinal muscular atrophy with respiratory distress type 1. 61
31445043 2019
28
Muscle fiber-type selective propensity to pathology in the nmd mouse model of SMARD1. 61
31256932 2019
29
Diagnostic Odyssey and Application of Targeted Exome Sequencing in the Investigation of Recurrent Infant Deaths in a Syrian Consanguineous Family: a Case of Spinal Muscular Atrophy with Respiratory Distress Type 1. 61
30863264 2019
30
Spinal muscular atrophy with respiratory distress type 1: A multicenter retrospective study. 61
30598237 2019
31
Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case. 61
30409445 2018
32
IGHMBP2 mutation associated with organ-specific autonomic dysfunction. 61
30385095 2018
33
An atypical phenotype of a patient with infantile spinal muscular atrophy with respiratory distress type 1 (SMARD 1). 61
29653221 2018
34
Distal Spinal Muscular Atrophy: An Overlooked Etiology of Weaning Failure in Children with Respiratory Insufficiency. 61
31073488 2018
35
A Direct Comparison of IV and ICV Delivery Methods for Gene Replacement Therapy in a Mouse Model of SMARD1. 61
30202772 2018
36
Impaired Local Translation of β-actin mRNA in Ighmbp2-Deficient Motoneurons: Implications for Spinal Muscular Atrophy with respiratory Distress (SMARD1). 61
29928949 2018
37
Selective vulnerability in neuronal populations in nmd/SMARD1 mice. 61
29272405 2018
38
Peripheral nerve pathology at fixed stage in spinal muscular atrophy with respiratory distress type 1. 61
28899595 2018
39
Spinal Muscular Atrophy With Respiratory Distress Type 1-A Child With Atypical Presentation. 61
29761130 2018
40
Clinical diversity caused by novel IGHMBP2 variants. 61
28202949 2017
41
[Mutation analysis and prenatal diagnosis for a case of spinal muscular atrophy with respiratory distress type 1]. 61
28397221 2017
42
Clinical and molecular characteristics in three families with biallelic mutations in IGHMBP2. 61
27450922 2016
43
Infantile spinal muscular atrophy with respiratory distress type I presenting without respiratory involvement: Novel mutations and review of the literature. 61
26922252 2016
44
Spinal muscular atrophy with respiratory distress syndrome (SMARD1): Case report and review of literature. 61
27570397 2016
45
Rescue of a Mouse Model of Spinal Muscular Atrophy With Respiratory Distress Type 1 by AAV9-IGHMBP2 Is Dose Dependent. 61
26860981 2016
46
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) Report of a Spanish case with extended clinicopathological follow-up. 61
26709713 2016
47
Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy. 61
27066569 2015
48
Autosomal recessive axonal polyneuropathy in a sibling pair due to a novel homozygous mutation in IGHMBP2. 61
26298607 2015
49
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1. 61
26095024 2015
50
Patient with spinal muscular atrophy with respiratory distress type 1 presenting initially with hypertonia. 61
25280635 2015
51
Gene therapy rescues disease phenotype in a spinal muscular atrophy with respiratory distress type 1 (SMARD1) mouse model. 61
26601156 2015
52
[Infantile spinal atrophy: our experience in the last 25 years]. 61
25103837 2015
53
Growing up with spinal muscular atrophy with respiratory distress (SMARD1). 61
25454169 2015
54
Truncating and missense mutations in IGHMBP2 cause Charcot-Marie Tooth disease type 2. 61
25439726 2014
55
The wide spectrum of clinical phenotypes of spinal muscular atrophy with respiratory distress type 1: a systematic review. 61
25248952 2014
56
iPSC-Derived neural stem cells act via kinase inhibition to exert neuroprotective effects in spinal muscular atrophy with respiratory distress type 1. 61
25254343 2014
57
Variations of IGHMBP2 gene was not the major cause of Han Chinese patients with non-5q-spinal muscular atrophies. 61
24022109 2014
58
One novel and one recurrent mutation in IGHMBP2 gene, causing severe spinal muscular atrophy respiratory distress 1 with onset soon after birth. 61
23449687 2014
59
Early infantile sensory-motor neuropathy with late onset respiratory distress. 61
24342282 2014
60
Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells. 61
24388491 2014
61
Differentiation defects in primary motoneurons from a SMARD1 mouse model that are insensitive to treatment with low dose PEGylated IGF1. 61
25083343 2014
62
Catastrophic autonomic crisis with cardiovascular collapse in spinal muscular atrophy with respiratory distress type 1. 61
22899794 2013
63
Fast motor axon loss in SMARD1 does not correspond to morphological and functional alterations of the NMJ. 61
23295857 2013
64
[A rare cause of respiratory failure in infants: distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)]. 61
22981475 2012
65
Heterogeneity in spinal muscular atrophy with respiratory distress type 1. 61
23560007 2012
66
The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1). 61
22157136 2012
67
Noisy breathing and hemidiaphragm paralysis progressing to respiratory failure in an infant. 61
21360834 2011
68
Infantile-onset spinal muscular atrophy with respiratory distress-1 diagnosed in a 20-year-old man. 61
21353777 2011
69
Characterization of the promoter region of the human IGHMBP2 (Smubp-2) gene and its response to TPA in HL-60 cells. 61
20441787 2010
70
A new nonsense mutation of the IGHMBP2 gene responsible for the first case of SMARD1 in a Sardinian patient with giant cell hepatitis. 61
20859832 2010
71
Devastation of bone tissue in the appendicular skeleton parallels the progression of neuromuscular disease. 61
19949279 2009
72
[Hereditary peripheral neuropathies]. 61
19327944 2009
73
Motoneuron transplantation rescues the phenotype of SMARD1 (spinal muscular atrophy with respiratory distress type 1). 61
19776263 2009
74
[Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)]. 61
18804971 2008
75
Mutation of gene in spinal muscular atrophy respiratory distress type I. 61
16765827 2006
76
Transplanted ALDHhiSSClo neural stem cells generate motor neurons and delay disease progression of nmd mice, an animal model of SMARD1. 61
16339214 2006
77
Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival. 61
16174646 2005
78
The ultrastructure of peripheral nerve, motor end-plate and skeletal muscle in patients suffering from spinal muscular atrophy with respiratory distress type 1 (SMARD1). 61
16025284 2005
79
Treatment with trkC agonist antibodies delays disease progression in neuromuscular degeneration (nmd) mice. 61
15888478 2005
80
Prenatal diagnosis of spinal muscular atrophy with respiratory distress (SMARD1) in a twin pregnancy. 61
15503272 2004
81
'Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1)'. 61
15287252 2004

Variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

ClinVar genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:

6 (showing 213, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IGHMBP2 NM_002180.2(IGHMBP2):c.138T>A (p.Cys46Ter)SNV Pathogenic 162194 rs372000714 11:68673588-68673588 11:68906120-68906120
2 IGHMBP2 NM_002180.2(IGHMBP2):c.1488C>A (p.Cys496Ter)SNV Pathogenic 234316 rs145226920 11:68701332-68701332 11:68933864-68933864
3 IGHMBP2 NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys)SNV Pathogenic 9112 rs137852665 11:68701934-68701934 11:68934466-68934466
4 IGHMBP2 NM_002180.2(IGHMBP2):c.1346del (p.Met449fs)deletion Pathogenic 243079 rs879253865 11:68700877-68700877 11:68933409-68933409
5 IGHMBP2 NM_002180.2(IGHMBP2):c.1082T>C (p.Leu361Pro)SNV Pathogenic 245627 rs201060167 11:68696672-68696672 11:68929204-68929204
6 IGHMBP2 NM_002180.2(IGHMBP2):c.1681dup (p.Ile561fs)duplication Pathogenic 466583 rs1555247732 11:68702812-68702813 11:68935344-68935345
7 IGHMBP2 NM_002180.2(IGHMBP2):c.1813C>T (p.Arg605Ter)SNV Pathogenic 488694 rs991227431 11:68703761-68703761 11:68936293-68936293
8 IGHMBP2 NM_002180.2(IGHMBP2):c.2368C>T (p.Arg790Ter)SNV Pathogenic 488695 rs773242930 11:68704316-68704316 11:68936848-68936848
9 IGHMBP2 NM_002180.2(IGHMBP2):c.439C>T (p.Arg147Ter)SNV Pathogenic 521206 rs1324667543 11:68675795-68675795 11:68908327-68908327
10 IGHMBP2 NM_002180.2(IGHMBP2):c.449+1G>ASNV Pathogenic 534927 rs797044802 11:68675806-68675806 11:68908338-68908338
11 IGHMBP2 NM_002180.2(IGHMBP2):c.1708C>T (p.Arg570Ter)SNV Pathogenic 561032 rs1000091588 11:68702842-68702842 11:68935374-68935374
12 IGHMBP2 NM_002180.2(IGHMBP2):c.826C>T (p.Gln276Ter)SNV Pathogenic 571351 rs1566430156 11:68682405-68682405 11:68914937-68914937
13 IGHMBP2 NM_002180.2(IGHMBP2):c.1516G>T (p.Glu506Ter)SNV Pathogenic 574350 rs556292818 11:68701360-68701360 11:68933892-68933892
14 IGHMBP2 NM_002180.3(IGHMBP2):c.133del (p.Val45fs)deletion Pathogenic 640505 11:68673583-68673583 11:68906115-68906115
15 IGHMBP2 NM_002180.2(IGHMBP2):c.2575C>T (p.Gln859Ter)SNV Pathogenic 566209 rs1373247548 11:68704523-68704523 11:68937055-68937055
16 IGHMBP2 NM_002180.3(IGHMBP2):c.2356del (p.Ala786fs)deletion Pathogenic 637908 11:68704302-68704302 11:68936834-68936834
17 IGHMBP2 NM_002180.2(IGHMBP2):c.1336C>T (p.Gln446Ter)SNV Pathogenic/Likely pathogenic 620136 rs372181708 11:68700867-68700867 11:68933399-68933399
18 IGHMBP2 NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg)SNV Pathogenic/Likely pathogenic 573815 rs759641927 11:68696746-68696746 11:68929278-68929278
19 IGHMBP2 NM_002180.2(IGHMBP2):c.1313dup (p.Thr439fs)duplication Pathogenic/Likely pathogenic 582766 rs1566443170 11:68700843-68700844 11:68933375-68933376
20 IGHMBP2 NM_002180.2(IGHMBP2):c.2611+1G>TSNV Pathogenic/Likely pathogenic 9118 rs786205090 11:68704560-68704560 11:68937092-68937092
21 IGHMBP2 NM_002180.2(IGHMBP2):c.2T>C (p.Met1Thr)SNV Pathogenic/Likely pathogenic 217448 rs886037759 11:68671422-68671422 11:68903954-68903954
22 IGHMBP2 NM_002180.2(IGHMBP2):c.978_982AAGAA[1] (p.Lys328fs)short repeat Pathogenic/Likely pathogenic 217449 rs746581714 11:68685269-68685273 11:68917801-68917805
23 IGHMBP2 NM_002180.2(IGHMBP2):c.1478C>T (p.Thr493Ile)SNV Pathogenic/Likely pathogenic 217450 rs780594709 11:68701322-68701322 11:68933854-68933854
24 IGHMBP2 NM_002180.2(IGHMBP2):c.2909_2910AG[1] (p.Arg971fs)short repeat Pathogenic/Likely pathogenic 162195 rs724159994 11:68707126-68707127 11:68939658-68939659
25 IGHMBP2 NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile)SNV Likely pathogenic 9114 rs137852667 11:68702872-68702872 11:68935404-68935404
26 IGHMBP2 NM_002180.2(IGHMBP2):c.1193C>A (p.Ala398Glu)SNV Likely pathogenic 243080 rs35193202 11:68696783-68696783 11:68929315-68929315
27 IGHMBP2 NM_002180.2(IGHMBP2):c.791G>T (p.Arg264Leu)SNV Likely pathogenic 466598 rs777575504 11:68682370-68682370 11:68914902-68914902
28 IGHMBP2 NM_002180.2(IGHMBP2):c.1060G>A (p.Gly354Ser)SNV Likely pathogenic 287977 rs886043773 11:68685351-68685351 11:68917883-68917883
29 IGHMBP2 NM_002180.2(IGHMBP2):c.547+1G>ASNV Likely pathogenic 373749 rs1057518588 11:68676100-68676100 11:68908632-68908632
30 IGHMBP2 NM_002180.2(IGHMBP2):c.1633-2A>GSNV Likely pathogenic 573404 rs1566445029 11:68702765-68702765 11:68935297-68935297
31 IGHMBP2 NM_002180.2(IGHMBP2):c.257-2A>GSNV Likely pathogenic 580622 rs1566424655 11:68675611-68675611 11:68908143-68908143
32 IGHMBP2 NM_002180.2(IGHMBP2):c.904C>T (p.Gln302Ter)SNV Likely pathogenic 522258 rs557416644 11:68682483-68682483 11:68915015-68915015
33 IGHMBP2 NM_002180.2(IGHMBP2):c.1418+1G>CSNV Likely pathogenic 523647 rs1160978570 11:68700950-68700950 11:68933482-68933482
34 IGHMBP2 NM_002180.2(IGHMBP2):c.688C>G (p.Gln230Glu)SNV Likely pathogenic 487481 rs1555243325 11:68679048-68679048 11:68911580-68911580
35 IGHMBP2 NM_002180.2(IGHMBP2):c.1327C>T (p.Arg443Cys)SNV Likely pathogenic 617575 rs751549678 11:68700858-68700858 11:68933390-68933390
36 IGHMBP2 NM_002180.3(IGHMBP2):c.729del (p.Ser244fs)deletion Likely pathogenic 666974 11:68682304-68682304 11:68914836-68914836
37 IGHMBP2 NM_002180.2(IGHMBP2):c.1273C>T (p.Arg425Cys)SNV Conflicting interpretations of pathogenicity 637695 11:68700804-68700804 11:68933336-68933336
38 IGHMBP2 NM_002180.2(IGHMBP2):c.2362C>T (p.Arg788Ter)SNV Conflicting interpretations of pathogenicity 637262 11:68704310-68704310 11:68936842-68936842
39 IGHMBP2 NM_002180.2(IGHMBP2):c.1756+4C>TSNV Conflicting interpretations of pathogenicity 466584 rs778913429 11:68702894-68702894 11:68935426-68935426
40 IGHMBP2 NM_002180.2(IGHMBP2):c.1632+4C>TSNV Conflicting interpretations of pathogenicity 509916 rs775832239 11:68702030-68702030 11:68934562-68934562
41 IGHMBP2 NM_002180.2(IGHMBP2):c.181G>A (p.Gly61Arg)SNV Conflicting interpretations of pathogenicity 374170 rs1057518943 11:68673631-68673631 11:68906163-68906163
42 IGHMBP2 NM_002180.2(IGHMBP2):c.151C>G (p.Gln51Glu)SNV Conflicting interpretations of pathogenicity 258557 rs117061430 11:68673601-68673601 11:68906133-68906133
43 IGHMBP2 NM_002180.2(IGHMBP2):c.2837G>A (p.Arg946Gln)SNV Conflicting interpretations of pathogenicity 246570 rs149824485 11:68707054-68707054 11:68939586-68939586
44 IGHMBP2 NM_002180.2(IGHMBP2):c.2532G>T (p.Ala844=)SNV Conflicting interpretations of pathogenicity 305856 rs2228207 11:68704480-68704480 11:68937012-68937012
45 IGHMBP2 NM_002180.2(IGHMBP2):c.256+9G>ASNV Conflicting interpretations of pathogenicity 137568 rs118015540 11:68673715-68673715 11:68906247-68906247
46 IGHMBP2 NM_002180.2(IGHMBP2):c.1808G>A (p.Arg603His)SNV Conflicting interpretations of pathogenicity 235774 rs151079750 11:68703756-68703756 11:68936288-68936288
47 IGHMBP2 NM_002180.2(IGHMBP2):c.1616C>T (p.Ser539Leu)SNV Conflicting interpretations of pathogenicity 245629 rs879253887 11:68702010-68702010 11:68934542-68934542
48 IGHMBP2 NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu)SNV Conflicting interpretations of pathogenicity 194494 rs147674615 11:68707139-68707139 11:68939671-68939671
49 IGHMBP2 NM_002180.2(IGHMBP2):c.808C>T (p.Arg270Cys)SNV Uncertain significance 198144 rs201054207 11:68682387-68682387 11:68914919-68914919
50 IGHMBP2 NM_002180.2(IGHMBP2):c.832C>G (p.His278Asp)SNV Uncertain significance 198146 rs144681826 11:68682411-68682411 11:68914943-68914943
51 IGHMBP2 NM_002180.2(IGHMBP2):c.1591C>A (p.Pro531Thr)SNV Uncertain significance 204302 rs756985703 11:68701985-68701985 11:68934517-68934517
52 IGHMBP2 NM_002180.2(IGHMBP2):c.1546C>T (p.Arg516Cys)SNV Uncertain significance 193854 rs757425203 11:68701940-68701940 11:68934472-68934472
53 IGHMBP2 NM_002180.2(IGHMBP2):c.2456C>T (p.Pro819Leu)SNV Uncertain significance 78659 rs200072932 11:68704404-68704404 11:68936936-68936936
54 IGHMBP2 NM_002180.2(IGHMBP2):c.767C>G (p.Ala256Gly)SNV Uncertain significance 218603 rs148095551 11:68682346-68682346 11:68914878-68914878
55 IGHMBP2 NM_002180.2(IGHMBP2):c.857G>A (p.Arg286Gln)SNV Uncertain significance 234714 rs200566598 11:68682436-68682436 11:68914968-68914968
56 IGHMBP2 NM_002180.2(IGHMBP2):c.1148C>T (p.Ala383Val)SNV Uncertain significance 234786 rs876661217 11:68696738-68696738 11:68929270-68929270
57 IGHMBP2 NM_002180.2(IGHMBP2):c.1844G>A (p.Arg615His)SNV Uncertain significance 245883 rs201640213 11:68703792-68703792 11:68936324-68936324
58 IGHMBP2 NM_002180.2(IGHMBP2):c.1933G>A (p.Asp645Asn)SNV Uncertain significance 245746 rs775138577 11:68703881-68703881 11:68936413-68936413
59 IGHMBP2 NM_002180.2(IGHMBP2):c.2090C>T (p.Pro697Leu)SNV Uncertain significance 246190 rs77807333 11:68704038-68704038 11:68936570-68936570
60 IGHMBP2 NM_002180.2(IGHMBP2):c.2176G>A (p.Val726Met)SNV Uncertain significance 245631 rs143986510 11:68704124-68704124 11:68936656-68936656
61 IGHMBP2 NM_002180.2(IGHMBP2):c.2369G>A (p.Arg790Gln)SNV Uncertain significance 245632 rs147038490 11:68704317-68704317 11:68936849-68936849
62 IGHMBP2 NM_002180.2(IGHMBP2):c.2554G>C (p.Glu852Gln)SNV Uncertain significance 246241 rs202143060 11:68704502-68704502 11:68937034-68937034
63 IGHMBP2 NM_002180.2(IGHMBP2):c.2618C>T (p.Pro873Leu)SNV Uncertain significance 194369 rs141903179 11:68705656-68705656 11:68938188-68938188
64 IGHMBP2 NM_002180.2(IGHMBP2):c.1108G>A (p.Asp370Asn)SNV Uncertain significance 245628 rs200007067 11:68696698-68696698 11:68929230-68929230
65 IGHMBP2 NM_002180.2(IGHMBP2):c.1295C>T (p.Ala432Val)SNV Uncertain significance 245837 rs370414354 11:68700826-68700826 11:68933358-68933358
66 IGHMBP2 NM_002180.2(IGHMBP2):c.761G>A (p.Arg254His)SNV Uncertain significance 246563 rs761191746 11:68682340-68682340 11:68914872-68914872
67 IGHMBP2 NM_002180.2(IGHMBP2):c.856C>T (p.Arg286Trp)SNV Uncertain significance 245927 rs751421003 11:68682435-68682435 11:68914967-68914967
68 IGHMBP2 NM_002180.2(IGHMBP2):c.2446G>C (p.Glu816Gln)SNV Uncertain significance 466591 rs950453484 11:68704394-68704394 11:68936926-68936926
69 IGHMBP2 NM_002180.2(IGHMBP2):c.2295C>G (p.His765Gln)SNV Uncertain significance 466589 rs149185954 11:68704243-68704243 11:68936775-68936775
70 IGHMBP2 NM_002180.2(IGHMBP2):c.4G>T (p.Ala2Ser)SNV Uncertain significance 466595 rs778232785 11:68671424-68671424 11:68903956-68903956
71 IGHMBP2 NM_002180.2(IGHMBP2):c.659A>G (p.Lys220Arg)SNV Uncertain significance 466597 rs1555243301 11:68679019-68679019 11:68911551-68911551
72 IGHMBP2 NM_002180.2(IGHMBP2):c.815T>C (p.Leu272Pro)SNV Uncertain significance 466599 rs773582904 11:68682394-68682394 11:68914926-68914926
73 IGHMBP2 NM_002180.2(IGHMBP2):c.1208A>G (p.Gln403Arg)SNV Uncertain significance 466574 rs1555246489 11:68696798-68696798 11:68929330-68929330
74 IGHMBP2 NM_002180.2(IGHMBP2):c.1561C>T (p.His521Tyr)SNV Uncertain significance 466579 rs759965718 11:68701955-68701955 11:68934487-68934487
75 IGHMBP2 NM_002180.2(IGHMBP2):c.1826C>A (p.Ala609Glu)SNV Uncertain significance 466585 rs776775995 11:68703774-68703774 11:68936306-68936306
76 IGHMBP2 NM_002180.2(IGHMBP2):c.1843C>T (p.Arg615Cys)SNV Uncertain significance 466586 rs1448152495 11:68703791-68703791 11:68936323-68936323
77 IGHMBP2 NM_002180.2(IGHMBP2):c.166C>T (p.Arg56Cys)SNV Uncertain significance 466582 rs201649839 11:68673616-68673616 11:68906148-68906148
78 IGHMBP2 NM_002180.2(IGHMBP2):c.1489G>T (p.Gly497Trp)SNV Uncertain significance 466576 rs764111837 11:68701333-68701333 11:68933865-68933865
79 IGHMBP2 NM_002180.2(IGHMBP2):c.2194A>G (p.Met732Val)SNV Uncertain significance 305850 rs750717921 11:68704142-68704142 11:68936674-68936674
80 IGHMBP2 NM_002180.2(IGHMBP2):c.1015C>T (p.Leu339Phe)SNV Uncertain significance 305841 rs149045005 11:68685306-68685306 11:68917838-68917838
81 IGHMBP2 NM_002180.2(IGHMBP2):c.2646C>A (p.Asp882Glu)SNV Uncertain significance 305858 rs372629862 11:68705684-68705684 11:68938216-68938216
82 IGHMBP2 NM_002180.2(IGHMBP2):c.901G>A (p.Asp301Asn)SNV Uncertain significance 305838 rs139635469 11:68682480-68682480 11:68915012-68915012
83 IGHMBP2 NM_002180.2(IGHMBP2):c.2755C>A (p.Arg919Ser)SNV Uncertain significance 305861 rs145945230 11:68705793-68705793 11:68938325-68938325
84 IGHMBP2 NM_002180.2(IGHMBP2):c.877G>A (p.Val293Ile)SNV Uncertain significance 392704 rs761171176 11:68682456-68682456 11:68914988-68914988
85 IGHMBP2 NM_002180.2(IGHMBP2):c.830A>G (p.Gln277Arg)SNV Uncertain significance 391360 rs112495985 11:68682409-68682409 11:68914941-68914941
86 IGHMBP2 NM_002180.2(IGHMBP2):c.2869A>G (p.Lys957Glu)SNV Uncertain significance 424987 rs370985388 11:68707086-68707086 11:68939618-68939618
87 IGHMBP2 NM_002180.2(IGHMBP2):c.2260G>A (p.Asp754Asn)SNV Uncertain significance 439816 rs200499838 11:68704208-68704208 11:68936740-68936740
88 IGHMBP2 NM_002180.2(IGHMBP2):c.2026G>A (p.Gly676Arg)SNV Uncertain significance 439819 rs149577588 11:68703974-68703974 11:68936506-68936506
89 IGHMBP2 NM_002180.2(IGHMBP2):c.1766G>T (p.Gly589Val)SNV Uncertain significance 450280 rs764900781 11:68703714-68703714 11:68936246-68936246
90 IGHMBP2 NM_002180.2(IGHMBP2):c.2155G>A (p.Gly719Arg)SNV Uncertain significance 452185 rs1191974842 11:68704103-68704103 11:68936635-68936635
91 IGHMBP2 NM_002180.2(IGHMBP2):c.1277T>G (p.Leu426Arg)SNV Uncertain significance 466575 rs1555247218 11:68700808-68700808 11:68933340-68933340
92 IGHMBP2 NM_002180.2(IGHMBP2):c.2912G>A (p.Arg971Lys)SNV Uncertain significance 534917 rs1471799706 11:68707129-68707129 11:68939661-68939661
93 IGHMBP2 NM_002180.2(IGHMBP2):c.1111G>A (p.Val371Met)SNV Uncertain significance 572765 rs770912338 11:68696701-68696701 11:68929233-68929233
94 IGHMBP2 NM_002180.2(IGHMBP2):c.734A>G (p.Asn245Ser)SNV Uncertain significance 534925 rs1555243999 11:68682313-68682313 11:68914845-68914845
95 IGHMBP2 NM_002180.2(IGHMBP2):c.1274G>A (p.Arg425His)SNV Uncertain significance 534933 rs769046350 11:68700805-68700805 11:68933337-68933337
96 IGHMBP2 NM_002180.2(IGHMBP2):c.1363A>C (p.Thr455Pro)SNV Uncertain significance 534936 rs775232759 11:68700894-68700894 11:68933426-68933426
97 IGHMBP2 NM_002180.2(IGHMBP2):c.1637A>C (p.Asp546Ala)SNV Uncertain significance 566980 rs1566445036 11:68702771-68702771 11:68935303-68935303
98 IGHMBP2 NM_002180.2(IGHMBP2):c.1784G>A (p.Arg595Gln)SNV Uncertain significance 570330 rs143766075 11:68703732-68703732 11:68936264-68936264
99 IGHMBP2 NM_002180.2(IGHMBP2):c.1684A>G (p.Lys562Glu)SNV Uncertain significance 570225 rs1566445093 11:68702818-68702818 11:68935350-68935350
100 IGHMBP2 NM_002180.2(IGHMBP2):c.2771A>C (p.His924Pro)SNV Uncertain significance 577190 rs1566448570 11:68705809-68705809 11:68938341-68938341
101 IGHMBP2 NC_000011.9:g.(?_68675593)_(68676119_?)deldeletion Uncertain significance 583815 11:68675593-68676119 11:68908125-68908651
102 IGHMBP2 NM_002180.2(IGHMBP2):c.83G>A (p.Arg28His)SNV Uncertain significance 578355 rs892885630 11:68671503-68671503 11:68904035-68904035
103 IGHMBP2 NM_002180.2(IGHMBP2):c.128G>A (p.Arg43Gln)SNV Uncertain significance 567358 rs1021399630 11:68673578-68673578 11:68906110-68906110
104 IGHMBP2 NM_002180.2(IGHMBP2):c.277G>A (p.Asp93Asn)SNV Uncertain significance 566764 rs200897747 11:68675633-68675633 11:68908165-68908165
105 IGHMBP2 NM_002180.2(IGHMBP2):c.286A>G (p.Asn96Asp)SNV Uncertain significance 566499 rs760004229 11:68675642-68675642 11:68908174-68908174
106 IGHMBP2 NM_002180.2(IGHMBP2):c.641G>C (p.Gly214Ala)SNV Uncertain significance 578270 rs1566427330 11:68679001-68679001 11:68911533-68911533
107 IGHMBP2 NM_002180.2(IGHMBP2):c.1018G>A (p.Glu340Lys)SNV Uncertain significance 569720 rs750580259 11:68685309-68685309 11:68917841-68917841
108 IGHMBP2 NM_002180.2(IGHMBP2):c.1348C>T (p.Arg450Cys)SNV Uncertain significance 580636 rs374363750 11:68700879-68700879 11:68933411-68933411
109 IGHMBP2 NM_002180.2(IGHMBP2):c.1718A>G (p.Glu573Gly)SNV Uncertain significance 566981 rs1566445153 11:68702852-68702852 11:68935384-68935384
110 IGHMBP2 NM_002180.2(IGHMBP2):c.2035C>T (p.Arg679Trp)SNV Uncertain significance 576574 rs371157210 11:68703983-68703983 11:68936515-68936515
111 IGHMBP2 NM_002180.2(IGHMBP2):c.2688C>G (p.Thr896=)SNV Uncertain significance 576916 rs1566448372 11:68705726-68705726 11:68938258-68938258
112 IGHMBP2 NM_002180.2(IGHMBP2):c.2863G>C (p.Gly955Arg)SNV Uncertain significance 571833 rs764208218 11:68707080-68707080 11:68939612-68939612
113 IGHMBP2 NM_002180.2(IGHMBP2):c.64G>T (p.Asp22Tyr)SNV Uncertain significance 572848 rs771853806 11:68671484-68671484 11:68904016-68904016
114 IGHMBP2 NM_002180.2(IGHMBP2):c.204G>T (p.Glu68Asp)SNV Uncertain significance 577929 rs1470672532 11:68673654-68673654 11:68906186-68906186
115 IGHMBP2 NM_002180.2(IGHMBP2):c.320C>G (p.Thr107Ser)SNV Uncertain significance 569318 rs767244307 11:68675676-68675676 11:68908208-68908208
116 IGHMBP2 NM_002180.2(IGHMBP2):c.791G>A (p.Arg264His)SNV Uncertain significance 577730 rs777575504 11:68682370-68682370 11:68914902-68914902
117 IGHMBP2 NM_002180.2(IGHMBP2):c.181G>C (p.Gly61Arg)SNV Uncertain significance 575884 rs1057518943 11:68673631-68673631 11:68906163-68906163
118 IGHMBP2 NM_002180.2(IGHMBP2):c.322C>T (p.Arg108Trp)SNV Uncertain significance 580556 rs750026880 11:68675678-68675678 11:68908210-68908210
119 IGHMBP2 NM_002180.2(IGHMBP2):c.928A>T (p.Thr310Ser)SNV Uncertain significance 565815 rs747287368 11:68685219-68685219 11:68917751-68917751
120 IGHMBP2 NM_002180.2(IGHMBP2):c.1399G>A (p.Val467Met)SNV Uncertain significance 568417 rs755120725 11:68700930-68700930 11:68933462-68933462
121 IGHMBP2 NM_002180.2(IGHMBP2):c.1693G>A (p.Asp565Asn)SNV Uncertain significance 581680 rs770111639 11:68702827-68702827 11:68935359-68935359
122 IGHMBP2 NM_002180.2(IGHMBP2):c.1736T>G (p.Phe579Cys)SNV Uncertain significance 572653 rs1566445212 11:68702870-68702870 11:68935402-68935402
123 IGHMBP2 NM_002180.2(IGHMBP2):c.2012C>T (p.Thr671Met)SNV Uncertain significance 574510 rs377743886 11:68703960-68703960 11:68936492-68936492
124 IGHMBP2 NM_002180.2(IGHMBP2):c.2317G>A (p.Gly773Arg)SNV Uncertain significance 582685 rs754559345 11:68704265-68704265 11:68936797-68936797
125 IGHMBP2 NM_002180.2(IGHMBP2):c.7T>G (p.Ser3Ala)SNV Uncertain significance 569975 rs751910797 11:68671427-68671427 11:68903959-68903959
126 IGHMBP2 NM_002180.2(IGHMBP2):c.2398G>A (p.Gly800Ser)SNV Uncertain significance 466590 rs751122806 11:68704346-68704346 11:68936878-68936878
127 IGHMBP2 NM_002180.2(IGHMBP2):c.2875G>A (p.Gly959Arg)SNV Uncertain significance 466593 rs199574747 11:68707092-68707092 11:68939624-68939624
128 IGHMBP2 NM_002180.2(IGHMBP2):c.1562A>G (p.His521Arg)SNV Uncertain significance 466580 rs1555247556 11:68701956-68701956 11:68934488-68934488
129 IGHMBP2 NM_002180.2(IGHMBP2):c.154G>C (p.Val52Leu)SNV Uncertain significance 534934 rs926718557 11:68673604-68673604 11:68906136-68906136
130 IGHMBP2 NM_002180.2(IGHMBP2):c.166C>A (p.Arg56Ser)SNV Uncertain significance 534926 rs201649839 11:68673616-68673616 11:68906148-68906148
131 IGHMBP2 NM_002180.2(IGHMBP2):c.1198G>A (p.Asp400Asn)SNV Uncertain significance 534932 rs779654686 11:68696788-68696788 11:68929320-68929320
132 IGHMBP2 NM_002180.2(IGHMBP2):c.1537+88G>ASNV Uncertain significance 496692 rs1555247438 11:68701469-68701469 11:68934001-68934001
133 IGHMBP2 NM_002180.2(IGHMBP2):c.1720G>A (p.Ala574Thr)SNV Uncertain significance 496693 rs1378524388 11:68702854-68702854 11:68935386-68935386
134 IGHMBP2 NM_002180.2(IGHMBP2):c.200T>C (p.Phe67Ser)SNV Uncertain significance 496735 rs1555242247 11:68673650-68673650 11:68906182-68906182
135 IGHMBP2 NM_002180.2(IGHMBP2):c.1106T>A (p.Phe369Tyr)SNV Uncertain significance 500874 rs756791529 11:68696696-68696696 11:68929228-68929228
136 IGHMBP2 NM_002180.2(IGHMBP2):c.547C>T (p.His183Tyr)SNV Uncertain significance 534919 rs548256623 11:68676099-68676099 11:68908631-68908631
137 IGHMBP2 NM_002180.2(IGHMBP2):c.1442C>G (p.Thr481Arg)SNV Uncertain significance 534921 rs1555247334 11:68701286-68701286 11:68933818-68933818
138 IGHMBP2 NM_002180.2(IGHMBP2):c.1814G>A (p.Arg605Gln)SNV Uncertain significance 534918 rs141107419 11:68703762-68703762 11:68936294-68936294
139 IGHMBP2 NM_002180.2(IGHMBP2):c.2550C>T (p.Ser850=)SNV Uncertain significance 534935 rs764637193 11:68704498-68704498 11:68937030-68937030
140 IGHMBP2 NM_002180.2(IGHMBP2):c.2857G>A (p.Gly953Ser)SNV Uncertain significance 534920 rs775514650 11:68707074-68707074 11:68939606-68939606
141 IGHMBP2 NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)inversion Uncertain significance 534930 11:68671477-68671478 11:68904009-68904010
142 IGHMBP2 NM_002180.2(IGHMBP2):c.217G>A (p.Gly73Arg)SNV Uncertain significance 534922 rs376644749 11:68673667-68673667 11:68906199-68906199
143 IGHMBP2 NM_002180.2(IGHMBP2):c.2671G>A (p.Val891Ile)SNV Uncertain significance 534929 rs199614709 11:68705709-68705709 11:68938241-68938241
144 IGHMBP2 NM_002180.2(IGHMBP2):c.2978C>T (p.Thr993Met)SNV Uncertain significance 534915 rs777591006 11:68707195-68707195 11:68939727-68939727
145 IGHMBP2 NM_002180.2(IGHMBP2):c.760C>T (p.Arg254Cys)SNV Uncertain significance 534924 rs1033094612 11:68682339-68682339 11:68914871-68914871
146 IGHMBP2 NM_002180.2(IGHMBP2):c.1241C>T (p.Ala414Val)SNV Uncertain significance 534916 rs1465465295 11:68700772-68700772 11:68933304-68933304
147 IGHMBP2 NM_002180.2(IGHMBP2):c.1342A>G (p.Ile448Val)SNV Uncertain significance 534928 rs139000973 11:68700873-68700873 11:68933405-68933405
148 IGHMBP2 NM_002180.2(IGHMBP2):c.1822G>A (p.Val608Met)SNV Uncertain significance 534923 rs573382473 11:68703770-68703770 11:68936302-68936302
149 IGHMBP2 NM_002180.2(IGHMBP2):c.1888T>C (p.Phe630Leu)SNV Uncertain significance 534931 rs1264599893 11:68703836-68703836 11:68936368-68936368
150 IGHMBP2 NM_002180.2(IGHMBP2):c.1000G>A (p.Glu334Lys)SNV Uncertain significance 637697 11:68685291-68685291 11:68917823-68917823
151 IGHMBP2 NM_002180.2(IGHMBP2):c.1263C>A (p.Ser421Arg)SNV Uncertain significance 637692 11:68700794-68700794 11:68933326-68933326
152 IGHMBP2 NM_002180.2(IGHMBP2):c.2856C>A (p.Ala952=)SNV Uncertain significance 569825 rs759627672 11:68707073-68707073 11:68939605-68939605
153 IGHMBP2 NM_002180.2(IGHMBP2):c.257G>A (p.Gly86Asp)SNV Uncertain significance 658936 11:68675613-68675613 11:68908145-68908145
154 IGHMBP2 NM_002180.2(IGHMBP2):c.350C>T (p.Ala117Val)SNV Uncertain significance 653840 11:68675706-68675706 11:68908238-68908238
155 IGHMBP2 NM_002180.2(IGHMBP2):c.389G>A (p.Arg130Gln)SNV Uncertain significance 643169 11:68675745-68675745 11:68908277-68908277
156 IGHMBP2 NM_002180.2(IGHMBP2):c.393G>T (p.Glu131Asp)SNV Uncertain significance 653194 11:68675749-68675749 11:68908281-68908281
157 IGHMBP2 NM_002180.2(IGHMBP2):c.440G>A (p.Arg147Gln)SNV Uncertain significance 664193 11:68675796-68675796 11:68908328-68908328
158 IGHMBP2 NM_002180.2(IGHMBP2):c.532C>G (p.Pro178Ala)SNV Uncertain significance 652434 11:68676084-68676084 11:68908616-68908616
159 IGHMBP2 NM_002180.2(IGHMBP2):c.678G>C (p.Glu226Asp)SNV Uncertain significance 664590 11:68679038-68679038 11:68911570-68911570
160 IGHMBP2 NM_002180.2(IGHMBP2):c.862G>A (p.Asp288Asn)SNV Uncertain significance 651658 11:68682441-68682441 11:68914973-68914973
161 IGHMBP2 NM_002180.2(IGHMBP2):c.1036A>G (p.Asn346Asp)SNV Uncertain significance 644337 11:68685327-68685327 11:68917859-68917859
162 IGHMBP2 NM_002180.2(IGHMBP2):c.1096G>A (p.Glu366Lys)SNV Uncertain significance 644745 11:68696686-68696686 11:68929218-68929218
163 IGHMBP2 NM_002180.2(IGHMBP2):c.1120A>G (p.Ile374Val)SNV Uncertain significance 663075 11:68696710-68696710 11:68929242-68929242
164 IGHMBP2 NM_002180.2(IGHMBP2):c.1279G>C (p.Ala427Pro)SNV Uncertain significance 653391 11:68700810-68700810 11:68933342-68933342
165 IGHMBP2 NM_002180.2(IGHMBP2):c.1293C>T (p.Gly431=)SNV Uncertain significance 648842 11:68700824-68700824 11:68933356-68933356
166 IGHMBP2 NM_002180.2(IGHMBP2):c.1301T>G (p.Val434Gly)SNV Uncertain significance 658255 11:68700832-68700832 11:68933364-68933364
167 IGHMBP2 NM_002180.2(IGHMBP2):c.1399G>C (p.Val467Leu)SNV Uncertain significance 665584 11:68700930-68700930 11:68933462-68933462
168 IGHMBP2 NM_002180.2(IGHMBP2):c.1418G>A (p.Arg473Lys)SNV Uncertain significance 657754 11:68700949-68700949 11:68933481-68933481
169 IGHMBP2 NM_002180.2(IGHMBP2):c.1451C>T (p.Thr484Met)SNV Uncertain significance 641497 11:68701295-68701295 11:68933827-68933827
170 IGHMBP2 NM_002180.2(IGHMBP2):c.1552G>A (p.Val518Ile)SNV Uncertain significance 649040 11:68701946-68701946 11:68934478-68934478
171 IGHMBP2 NM_002180.2(IGHMBP2):c.1627C>G (p.Leu543Val)SNV Uncertain significance 641773 11:68702021-68702021 11:68934553-68934553
172 IGHMBP2 NM_002180.2(IGHMBP2):c.1723G>C (p.Val575Leu)SNV Uncertain significance 643983 11:68702857-68702857 11:68935389-68935389
173 IGHMBP2 NM_002180.2(IGHMBP2):c.1826C>T (p.Ala609Val)SNV Uncertain significance 646080 11:68703774-68703774 11:68936306-68936306
174 IGHMBP2 NM_002180.2(IGHMBP2):c.1833C>G (p.Ile611Met)SNV Uncertain significance 660107 11:68703781-68703781 11:68936313-68936313
175 IGHMBP2 NM_002180.2(IGHMBP2):c.1898A>G (p.His633Arg)SNV Uncertain significance 644971 11:68703846-68703846 11:68936378-68936378
176 IGHMBP2 NM_002180.2(IGHMBP2):c.1966T>C (p.Ser656Pro)SNV Uncertain significance 656536 11:68703914-68703914 11:68936446-68936446
177 IGHMBP2 NM_002180.2(IGHMBP2):c.1990A>C (p.Thr664Pro)SNV Uncertain significance 661627 11:68703938-68703938 11:68936470-68936470
178 IGHMBP2 NM_002180.2(IGHMBP2):c.2097G>T (p.Gly699=)SNV Uncertain significance 649410 11:68704045-68704045 11:68936577-68936577
179 IGHMBP2 NM_002180.2(IGHMBP2):c.2129C>T (p.Pro710Leu)SNV Uncertain significance 654485 11:68704077-68704077 11:68936609-68936609
180 IGHMBP2 NM_002180.2(IGHMBP2):c.2175C>T (p.Gly725=)SNV Uncertain significance 638830 11:68704123-68704123 11:68936655-68936655
181 IGHMBP2 NM_002180.2(IGHMBP2):c.2205G>C (p.Glu735Asp)SNV Uncertain significance 654191 11:68704153-68704153 11:68936685-68936685
182 IGHMBP2 NM_002180.2(IGHMBP2):c.2386C>G (p.Pro796Ala)SNV Uncertain significance 650321 11:68704334-68704334 11:68936866-68936866
183 IGHMBP2 NM_002180.2(IGHMBP2):c.2531C>T (p.Ala844Val)SNV Uncertain significance 657026 11:68704479-68704479 11:68937011-68937011
184 IGHMBP2 NM_002180.2(IGHMBP2):c.2561A>G (p.Gln854Arg)SNV Uncertain significance 643088 11:68704509-68704509 11:68937041-68937041
185 IGHMBP2 NM_002180.2(IGHMBP2):c.2649T>G (p.Phe883Leu)SNV Uncertain significance 640085 11:68705687-68705687 11:68938219-68938219
186 IGHMBP2 NM_002180.2(IGHMBP2):c.2713G>A (p.Gly905Ser)SNV Uncertain significance 639203 11:68705751-68705751 11:68938283-68938283
187 IGHMBP2 NM_002180.2(IGHMBP2):c.2752C>T (p.Arg918Cys)SNV Uncertain significance 644635 11:68705790-68705790 11:68938322-68938322
188 IGHMBP2 NM_002180.2(IGHMBP2):c.2822G>A (p.Arg941Gln)SNV Uncertain significance 654792 11:68707039-68707039 11:68939571-68939571
189 IGHMBP2 NM_002180.2(IGHMBP2):c.2959C>T (p.Arg987Trp)SNV Uncertain significance 657284 11:68707176-68707176 11:68939708-68939708
190 IGHMBP2 NM_002180.2(IGHMBP2):c.222C>T (p.Ser74=)SNV Likely benign 534940 rs139237340 11:68673672-68673672 11:68906204-68906204
191 IGHMBP2 NM_002180.2(IGHMBP2):c.1197C>T (p.Gly399=)SNV Likely benign 534939 rs377631839 11:68696787-68696787 11:68929319-68929319
192 IGHMBP2 NM_002180.2(IGHMBP2):c.2611+7C>TSNV Likely benign 534941 rs1343219004 11:68704566-68704566 11:68937098-68937098
193 IGHMBP2 NM_002180.2(IGHMBP2):c.711+8G>ASNV Likely benign 534938 rs1403938196 11:68679079-68679079 11:68911611-68911611
194 IGHMBP2 NM_002180.2(IGHMBP2):c.954T>C (p.Asn318=)SNV Likely benign 514064 rs1482496537 11:68685245-68685245 11:68917777-68917777
195 IGHMBP2 NM_002180.2(IGHMBP2):c.1932C>T (p.Asp644=)SNV Likely benign 515957 rs769397483 11:68703880-68703880 11:68936412-68936412
196 IGHMBP2 NM_002180.2(IGHMBP2):c.1998C>T (p.Pro666=)SNV Likely benign 534943 rs1308205831 11:68703946-68703946 11:68936478-68936478
197 IGHMBP2 NM_002180.2(IGHMBP2):c.2157A>G (p.Gly719=)SNV Likely benign 534945 rs774145467 11:68704105-68704105 11:68936637-68936637
198 IGHMBP2 NM_002180.2(IGHMBP2):c.2286C>T (p.Ala762=)SNV Likely benign 534937 rs149684358 11:68704234-68704234 11:68936766-68936766
199 IGHMBP2 NM_002180.2(IGHMBP2):c.1848T>C (p.Thr616=)SNV Likely benign 466587 rs1164401206 11:68703796-68703796 11:68936328-68936328
200 IGHMBP2 NM_002180.2(IGHMBP2):c.1938T>C (p.Ile646=)SNV Likely benign 466588 rs1555247978 11:68703886-68703886 11:68936418-68936418
201 IGHMBP2 NM_002180.2(IGHMBP2):c.639T>C (p.His213=)SNV Likely benign 466596 rs764495455 11:68678999-68678999 11:68911531-68911531
202 IGHMBP2 NM_002180.2(IGHMBP2):c.1515C>T (p.Asp505=)SNV Likely benign 466577 rs538496164 11:68701359-68701359 11:68933891-68933891
203 IGHMBP2 NM_002180.2(IGHMBP2):c.2836C>T (p.Arg946Trp)SNV Likely benign 245633 rs373943338 11:68707053-68707053 11:68939585-68939585
204 IGHMBP2 NM_002180.2(IGHMBP2):c.2782G>A (p.Glu928Lys)SNV Benign/Likely benign 258573 rs2275996 11:68705820-68705820 11:68938352-68938352
205 IGHMBP2 NM_002180.2(IGHMBP2):c.-2C>TSNV Benign 258555 rs4930624 11:68671419-68671419 11:68903951-68903951
206 IGHMBP2 NM_002180.2(IGHMBP2):c.57T>C (p.Leu19=)SNV Benign 258575 rs1249463 11:68671477-68671477 11:68904009-68904009
207 IGHMBP2 NM_002180.2(IGHMBP2):c.602T>C (p.Leu201Ser)SNV Benign 258576 rs560096 11:68678962-68678962 11:68911494-68911494
208 IGHMBP2 NM_002180.2(IGHMBP2):c.823A>G (p.Ile275Val)SNV Benign 258577 rs10896380 11:68682402-68682402 11:68914934-68914934
209 IGHMBP2 NM_002180.2(IGHMBP2):c.1554C>T (p.Val518=)SNV Benign 258560 rs11228413 11:68701948-68701948 11:68934480-68934480
210 IGHMBP2 NM_002180.2(IGHMBP2):c.2011A>G (p.Thr671Ala)SNV Benign 258566 rs622082 11:68703959-68703959 11:68936491-68936491
211 IGHMBP2 NM_002180.2(IGHMBP2):c.2080C>T (p.Arg694Trp)SNV Benign 258567 rs2236654 11:68704028-68704028 11:68936560-68936560
212 IGHMBP2 NM_002180.2(IGHMBP2):c.2316C>T (p.Ser772=)SNV Benign 258570 rs546382 11:68704264-68704264 11:68936796-68936796
213 IGHMBP2 NM_002180.2(IGHMBP2):c.2636C>A (p.Thr879Lys)SNV Benign 194368 rs17612126 11:68705674-68705674 11:68938206-68938206

UniProtKB/Swiss-Prot genetic disease variations for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1:

73 (showing 29, show less)
# Symbol AA change Variation ID SNP ID
1 IGHMBP2 p.Leu192Pro VAR_022321
2 IGHMBP2 p.His213Arg VAR_022322 rs137852666
3 IGHMBP2 p.Thr221Ala VAR_022323
4 IGHMBP2 p.Cys241Arg VAR_022324
5 IGHMBP2 p.Glu334Lys VAR_022325
6 IGHMBP2 p.Leu361Pro VAR_022326 rs201060167
7 IGHMBP2 p.Leu364Pro VAR_022327
8 IGHMBP2 p.Glu382Lys VAR_022328 rs776730737
9 IGHMBP2 p.Leu426Pro VAR_022329
10 IGHMBP2 p.Glu514Lys VAR_022330 rs137852665
11 IGHMBP2 p.Asp565Asn VAR_022331 rs770111639
12 IGHMBP2 p.Leu577Pro VAR_022333 rs148316500
13 IGHMBP2 p.Val580Ile VAR_022334 rs137852667
14 IGHMBP2 p.Asn583Ile VAR_022335
15 IGHMBP2 p.Gly586Cys VAR_022336
16 IGHMBP2 p.Arg603His VAR_022337 rs151079750
17 IGHMBP2 p.Arg637Cys VAR_022338 rs201563456
18 IGHMBP2 p.Asp974Glu VAR_022340 rs147674615
19 IGHMBP2 p.Leu17Pro VAR_058497
20 IGHMBP2 p.Gln196Arg VAR_058498
21 IGHMBP2 p.Pro216Leu VAR_058499
22 IGHMBP2 p.Leu251Pro VAR_058500
23 IGHMBP2 p.Trp386Arg VAR_058501 rs759641927
24 IGHMBP2 p.His445Pro VAR_058502 rs571142182
25 IGHMBP2 p.Leu472Pro VAR_058503
26 IGHMBP2 p.Thr493Ile VAR_058504 rs780594709
27 IGHMBP2 p.Arg581Ser VAR_058505
28 IGHMBP2 p.Arg603Cys VAR_058506 rs146580326
29 IGHMBP2 p.Phe369Leu VAR_072695 rs137852670

Expression for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Search GEO for disease gene expression data for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1.

Pathways for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Pathways related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Super pathways Score Top Affiliating Genes
1 11.02 UPF1 SMN2 SMN1

GO Terms for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

Cellular components related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 9.56 SMN2 SMN1 SETX IGHMBP2
2 SMN-Sm protein complex GO:0034719 9.16 SMN2 SMN1
3 Gemini of coiled bodies GO:0097504 8.96 SMN2 SMN1
4 SMN complex GO:0032797 8.62 SMN2 SMN1

Biological processes related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 spliceosomal snRNP assembly GO:0000387 9.26 SMN2 SMN1
2 spliceosomal complex assembly GO:0000245 9.16 SMN2 SMN1
3 import into nucleus GO:0051170 8.96 SMN2 SMN1
4 DNA-templated transcription, termination GO:0006353 8.8 SMN2 SMN1 SETX

Molecular functions related to Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 according to GeneCards Suite gene sharing:

(showing 4, show less)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.8 UPF1 SPATA5L1 SETX MORC2 IGHMBP2 DDX27
2 RNA binding GO:0003723 9.56 UPF1 SMN2 SMN1 SETX LAS1L IGHMBP2
3 RNA helicase activity GO:0003724 9.33 UPF1 IGHMBP2 DDX27
4 helicase activity GO:0004386 8.92 UPF1 SETX IGHMBP2 DDX27

Sources for Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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