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	spinal muscular atrophy

Disease ID	375
Disease	spinal muscular atrophy
Definition	A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
Synonym	amyotrophies, spinal amyotrophy, spinal atrophies muscular spinal atrophy muscular sma spinal atrophy muscular spinal atrophy spinal muscular atrophy, spinal muscular muscle spinal atrophy muscular atrophy spinal muscular atrophy, spinal muscular atrophy, spinal [disease/finding] muscular spinal atrophy sma sma - spinal muscular atrophy spinal amyotrophies spinal amyotrophy spinal muscl atrophy nos spinal muscle atrophy spinal muscle degeneration spinal muscle wasting spinal muscular atrophy (disorder) spinal muscular atrophy nos spinal muscular atrophy nos (disorder) spinal muscular atrophy, nos spinal muscular atrophy, unspecified unspecified spinal muscular atrophy unspecified spinal muscular atrophy (disorder)
DOID	DOID:12377
ICD10	ICD10CM:G12.9
UMLS	C0026847
MeSH	D009134
SNOMED-CT	SNOMEDCT_US_2016_09_01:5262007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:13) C0014544 \| epilepsy \| 7 C0751778 \| progressive myoclonic epilepsy \| 4 C0035229 \| respiratory insufficiency \| 2 C0036439 \| scoliosis \| 2 C1261175 \| pontocerebellar hypoplasia \| 2 C0028754 \| adiposity \| 1 C0026850 \| muscular dystrophy \| 1 C0029124 \| optic atrophy \| 1 C0037773 \| hereditary spastic paraplegia \| 1 C0030486 \| paraplegia \| 1 C0027819 \| neuroblastoma \| 1 C0026848 \| myopathy \| 1 C0270853 \| juvenile myoclonic epilepsy \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) 59341 \| TRPV4 \| CTD_human 1778 \| DYNC1H1 \| CLINVAR;GHR 367 \| AR \| GHR 6607 \| SMN2 \| CTD_human;GHR 9217 \| VAPB \| GHR 6606 \| SMN1 \| CTD_human;GHR 7317 \| UBA1 \| GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 4671 \| NAIP \| CIPHER 6606 \| SMN1 \| CIPHER;CTD_human 6607 \| SMN2 \| CIPHER;CTD_human 348 \| APOE \| CIPHER 167410 \| LIX1 \| CIPHER 59341 \| TRPV4 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:103) 55 \| ACPP \| 2.09 \| DISEASES 60 \| ACTB \| 2.382 \| DISEASES 10121 \| ACTR1A \| 2.431 \| DISEASES 2334 \| AFF2 \| 3.474 \| DISEASES 375790 \| AGRN \| 1.207 \| DISEASES 8852 \| AKAP4 \| 1.341 \| DISEASES 27063 \| ANKRD1 \| 1.226 \| DISEASES 56899 \| ANKS1B \| 1.93 \| DISEASES 367 \| AR \| 6.891 \| DISEASES 427 \| ASAH1 \| 2.465 \| DISEASES 1822 \| ATN1 \| 1.835 \| DISEASES 4287 \| ATXN3 \| 3.382 \| DISEASES 6314 \| ATXN7 \| 2.693 \| DISEASES 573 \| BAG1 \| 1.269 \| DISEASES 9531 \| BAG3 \| 1.415 \| DISEASES 8678 \| BECN1 \| 1.129 \| DISEASES 23299 \| BICD2 \| 3.287 \| DISEASES 755 \| C21orf2 \| 1.158 \| DISEASES 203228 \| C9orf72 \| 1.087 \| DISEASES 773 \| CACNA1A \| 2.06 \| DISEASES 875 \| CBS \| 1.678 \| DISEASES 10659 \| CELF2 \| 2.793 \| DISEASES 400916 \| CHCHD10 \| 2.251 \| DISEASES 1122 \| CHML \| 2.476 \| DISEASES 1272 \| CNTN1 \| 1.031 \| DISEASES 1290 \| COL5A2 \| 1.036 \| DISEASES 1314 \| COPA \| 1.175 \| DISEASES 84987 \| COX14 \| 2.009 \| DISEASES 1385 \| CREB1 \| 1.883 \| DISEASES 1431 \| CS \| 1.449 \| DISEASES 1639 \| DCTN1 \| 1.897 \| DISEASES 11218 \| DDX20 \| 4.27 \| DISEASES 3301 \| DNAJA1 \| 2.536 \| DISEASES 3300 \| DNAJB2 \| 3.697 \| DISEASES 285489 \| DOK7 \| 1.196 \| DISEASES 1778 \| DYNC1H1 \| 3.747 \| DISEASES 80258 \| EFHC2 \| 2.052 \| DISEASES 1996 \| ELAVL4 \| 2.915 \| DISEASES 114907 \| FBXO32 \| 1.623 \| DISEASES 2332 \| FMR1 \| 2.834 \| DISEASES 2395 \| FXN \| 1.153 \| DISEASES 85569 \| GALP \| 1.223 \| DISEASES 2596 \| GAP43 \| 1.015 \| DISEASES 50628 \| GEMIN4 \| 3.536 \| DISEASES 54960 \| GEMIN8 \| 2.971 \| DISEASES 9001 \| HAP1 \| 1.287 \| DISEASES 3178 \| HNRNPA1 \| 4.203 \| DISEASES 4670 \| HNRNPM \| 1.535 \| DISEASES 10236 \| HNRNPR \| 3.947 \| DISEASES 3293 \| HSD17B3 \| 1.09 \| DISEASES 3320 \| HSP90AA1 \| 2.724 \| DISEASES 3064 \| HTT \| 3.451 \| DISEASES 3483 \| IGFALS \| 1.407 \| DISEASES 2531 \| KDSR \| 2.232 \| DISEASES 339344 \| MYPOP \| 3.426 \| DISEASES 4671 \| NAIP \| 5.775 \| DISEASES 8648 \| NCOA1 \| 1.575 \| DISEASES 8031 \| NCOA4 \| 1.264 \| DISEASES 91624 \| NEXN \| 1.658 \| DISEASES 4800 \| NFYA \| 1.223 \| DISEASES 51701 \| NLK \| 1.424 \| DISEASES 9221 \| NOLC1 \| 1.882 \| DISEASES 10528 \| NOP56 \| 2.488 \| DISEASES 5081 \| PAX7 \| 1.865 \| DISEASES 22976 \| PAXIP1 \| 1.639 \| DISEASES 5358 \| PLS3 \| 4.442 \| DISEASES 8228 \| PNPLA4 \| 2.378 \| DISEASES 151987 \| PPP4R2 \| 2.8 \| DISEASES 55170 \| PRMT6 \| 1.581 \| DISEASES 5901 \| RAN \| 1.765 \| DISEASES 27316 \| RBMX \| 1.512 \| DISEASES 387 \| RHOA \| 1.52 \| DISEASES 9604 \| RNF14 \| 1.685 \| DISEASES 6133 \| RPL9 \| 2.159 \| DISEASES 10556 \| RPP30 \| 2.275 \| DISEASES 84324 \| SARNP \| 1.763 \| DISEASES 9672 \| SDC3 \| 1.214 \| DISEASES 57556 \| SEMA6A \| 1.182 \| DISEASES 8293 \| SERF1A \| 4.007 \| DISEASES 728492 \| SERF1B \| 3.778 \| DISEASES 9962 \| SLC23A2 \| 2.086 \| DISEASES 6606 \| SMN1 \| 8.338 \| DISEASES 6607 \| SMN2 \| 8.343 \| DISEASES 10285 \| SMNDC1 \| 1.535 \| DISEASES 51429 \| SNX9 \| 1.296 \| DISEASES 6651 \| SON \| 1.547 \| DISEASES 6683 \| SPAST \| 1.811 \| DISEASES 9295 \| SRSF11 \| 2.506 \| DISEASES 6427 \| SRSF2 \| 1.194 \| DISEASES 6428 \| SRSF3 \| 2.029 \| DISEASES 6429 \| SRSF4 \| 1.738 \| DISEASES 6430 \| SRSF5 \| 1.37 \| DISEASES 6432 \| SRSF7 \| 1.819 \| DISEASES 11171 \| STRAP \| 3.811 \| DISEASES 22987 \| SV2C \| 1.698 \| DISEASES 6840 \| SVIL \| 2.084 \| DISEASES 10492 \| SYNCRIP \| 3.626 \| DISEASES 127833 \| SYT2 \| 1.7 \| DISEASES 6904 \| TBCD \| 1.505 \| DISEASES 7041 \| TGFB1I1 \| 1.102 \| DISEASES 6434 \| TRA2B \| 2.983 \| DISEASES 84676 \| TRIM63 \| 1.948 \| DISEASES 7317 \| UBA1 \| 2.518 \| DISEASES
Locus	(Waiting for update.)

Disease ID	375
Disease	spinal muscular atrophy
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:25) HP:0002098 \| Respiratory distress \| 28 HP:0002093 \| progressive respiratory failure \| 2 HP:0001321 \| Small cerebellum \| 2 HP:0002650 \| Scoliosis \| 2 HP:0012378 \| Fatigue \| 2 HP:0002194 \| Delayed motor skills \| 1 HP:0001252 \| Hypotonia \| 1 HP:0001258 \| Spastic paraplegia, lower limb \| 1 HP:0003198 \| Myopathic changes \| 1 HP:0003418 \| Back pain \| 1 HP:0003560 \| Muscular dystrophy \| 1 HP:0011947 \| Respiratory infection \| 1 HP:0010807 \| Open bite between upper and lower teeth \| 1 HP:0010550 \| Paraplegia \| 1 HP:0001270 \| Motor retardation \| 1 HP:0000648 \| Optic-nerve degeneration \| 1 HP:0002804 \| Arthrogryposis multiplex congenita \| 1 HP:0010307 \| Stridor \| 1 HP:0002015 \| Swallowing difficulty \| 1 HP:0002205 \| Frequent respiratory infections \| 1 HP:0003006 \| Neuroblastoma \| 1 HP:0001300 \| Parkinsonism \| 1 HP:0002180 \| Neurodegeneration \| 1 HP:0007373 \| Motor neuron atrophy \| 1 HP:0012531 \| Pain \| 1

Disease ID	375
Disease	spinal muscular atrophy
Manually Symptom	UMLS \| Name(Total Manually Symptoms:15) C2712323 \| hypoglycaemia C2364118 \| weakness C2364114 \| tremor C2364051 \| fatigue C1563743 \| adiposity C1145670 \| respiratory failure C0855197 \| testicular cancer C0700208 \| scoliosis C0342782 \| depletion of mitochondrial dna C0268457 \| aminoacidemia C0037315 \| sleep-disordered breathing C0037315 \| sleep disordered breathing C0027831 \| neurofibromatosis 1 C0026848 \| myopathy C0005940 \| bone disease
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:5) C0036439 \| scoliosis \| 2 C0015672 \| fatigue \| 2 C0004093 \| weakness \| 1 C0028754 \| adiposity \| 1 C0026848 \| myopathy \| 1

Manually Genotype(Total Manually Genotypes:2)
Gene	Mutation	DOI	Article Title
SMN1	n/a	doi:10.1038/gim.2016.30	Carrier screening in the era of expanding genetic technology
SMN1	deletion	doi:10.1038/gim.2015.55	The Israeli national population program of genetic carrier screening for reproductive purposes

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:2)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs713993043	NA	1778	DYNC1H1	umls:C0026847	CLINVAR	NA	0.121900093	NA	DYNC1H1	14	101980380	G	T
rs75660264	21082361	6607	SMN2	umls:C0026847	BeFree	We also show that while two SMN proteins harbouring SMA-causing point mutations (A2G and S262I) are efficiently targeted to CBs, they also display reduced nuclear movement.	0.272351306	2011	SMN1	5	70946127	G	T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	375
Disease	spinal muscular atrophy
Case	(Waiting for update.)

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