Amyotrophic Lateral Sclerosis 12 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ALS12 MCID: AMY062 MIFTS: 37	Amyotrophic Lateral Sclerosis 12 (ALS12) Categories: Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Amyotrophic Lateral Sclerosis 12

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 12:

Name: Amyotrophic Lateral Sclerosis 12 ⁵⁶ ¹² ⁷³ ¹³ ⁷¹

Amyotrophic Lateral Sclerosis Type 12 ¹² ²⁹ ⁶ ¹⁵

Als12 ⁵⁶ ¹² ⁷³

Sclerosis, Lateral, Amyotrophic, Type Type 12 ³⁹

Characteristics:

HPO:

³¹

amyotrophic lateral sclerosis 12:
Inheritance autosomal dominant inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Neuronal diseases Respiratory diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060203

OMIM ⁵⁶ 613435

OMIM Phenotypic Series ⁵⁶ PS105400

MeSH ⁴³ D000690

MedGen ⁴¹ C3150692

SNOMED-CT via HPO ⁶⁸ 249878001 258211005 263681008 more

UMLS ⁷¹ C3150692

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Summaries for Amyotrophic Lateral Sclerosis 12

UniProtKB/Swiss-Prot : ⁷³ Amyotrophic lateral sclerosis 12: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.

MalaCards based summary : Amyotrophic Lateral Sclerosis 12, also known as amyotrophic lateral sclerosis type 12, is related to neuronopathy, distal hereditary motor, type iia and steroid-induced glaucoma. An important gene associated with Amyotrophic Lateral Sclerosis 12 is OPTN (Optineurin). Affiliated tissues include brain, spinal cord and tongue, and related phenotypes are muscle weakness and dysphagia

Disease Ontology : ¹² An amyotrophic lateral sclerosis that has material basis in mutation in the OPTN gene on chromosome 10.

More information from OMIM: 613435 PS105400

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Related Diseases for Amyotrophic Lateral Sclerosis 12

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic Lateral Sclerosis 5, Juvenile	Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic Lateral Sclerosis 21	Amyotrophic Lateral Sclerosis 3
Amyotrophic Lateral Sclerosis 7	Amyotrophic Lateral Sclerosis 8
Amyotrophic Lateral Sclerosis 9	Amyotrophic Lateral Sclerosis 11
Amyotrophic Lateral Sclerosis 12	Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic Lateral Sclerosis 17	Amyotrophic Lateral Sclerosis 18
Amyotrophic Lateral Sclerosis 20	Amyotrophic Lateral Sclerosis 19
Amyotrophic Lateral Sclerosis 23	Amyotrophic Lateral Sclerosis 24
Amyotrophic Lateral Sclerosis 25	Amyotrophic Lateral Sclerosis Type 5
Amyotrophic Lateral Sclerosis Type 6	Amyotrophic Lateral Sclerosis Type 14
Amyotrophic Lateral Sclerosis Type 15	Amyotrophic Lateral Sclerosis Type 22
Tardbp-Related Amyotrophic Lateral Sclerosis

Diseases related to Amyotrophic Lateral Sclerosis 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)

#	Related Disease	Score	Top Affiliating Genes
1	neuronopathy, distal hereditary motor, type iia	10.4	CRYAA ALS2
2	steroid-induced glaucoma	10.3	OPTN CRYAA
3	spinal muscular atrophy with lower extremity predominance	10.3	VAPB SETX
4	autosomal recessive distal hereditary motor neuronopathy	10.3	SETX ALS2
5	phacogenic glaucoma	10.3	OPTN CRYAA
6	proximal spinal muscular atrophy	10.3	VAPB SETX
7	juvenile glaucoma	10.2	OPTN CRYAA
8	spinal muscular atrophy, distal, autosomal recessive, 4	10.2	SPG11 ALS2
9	spastic paraplegia 57, autosomal recessive	10.2	SPG11 ALS2
10	distal hereditary motor neuronopathy type 7	10.2	TARDBP ALS2
11	neuronopathy, distal hereditary motor, type viib	10.1	TARDBP ALS2
12	primary lateral sclerosis, adult, 1	10.1	SOD1 ALS2
13	spastic paraplegia 13, autosomal dominant	10.1	SPG11 CRYAA
14	semantic dementia	10.1	TARDBP CHMP2B
15	dysgraphia	10.1	TARDBP CHMP2B
16	writing disorder	10.0	TARDBP CHMP2B
17	pica disease	10.0	TARDBP FUS
18	primary congenital glaucoma	10.0	OPTN CRYAA
19	dyscalculia	10.0	TARDBP CHMP2B
20	spastic paraplegia 4, autosomal dominant	9.9	SPG11 ALS2
21	multisystem proteinopathy	9.9	TARDBP OPTN FUS
22	perry syndrome	9.9	TARDBP CHMP2B
23	amyotrophic lateral sclerosis 2, juvenile	9.9	SOD1 ALS2
24	associative agnosia	9.8	TARDBP FUS CHMP2B
25	nominal aphasia	9.8	TARDBP FUS CHMP2B
26	frontotemporal dementia, chromosome 3-linked	9.8	TARDBP FUS CHMP2B
27	inclusion body myopathy with paget disease of bone and frontotemporal dementia	9.8	TARDBP FUS CHMP2B
28	amyotrophic lateral sclerosis 19	9.7	TARDBP SOD1 ALS2
29	juvenile amyotrophic lateral sclerosis	9.7	SPG11 SETX FUS ALS2
30	amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	9.7	TARDBP SOD1
31	prion disease	9.7	TARDBP SOD1 CRYAA
32	speech and communication disorders	9.7	TARDBP FUS CHMP2B
33	muscular atrophy	9.7	VAPB TARDBP SETX FUS
34	aphasia	9.6	TARDBP OPTN FUS CHMP2B
35	progressive bulbar palsy	9.6	VAPB SOD1 FUS ALS2
36	dermatopathia pigmentosa reticularis	9.6	TARDBP SOD1 FUS
37	amyotrophic lateral sclerosis 20	9.6	VAPB SPG11 SOD1 ALS2
38	short syndrome	9.6	SOD1 CRYAA
39	amyotrophic lateral sclerosis type 15	9.6	VAPB SPG11 SETX CHMP2B ALS2
40	amyotrophic lateral sclerosis 7	9.6	VAPB SPG11 SETX CHMP2B ALS2
41	amyotrophic lateral sclerosis 21	9.5	VAPB SPG11 SETX FUS ALS2
42	charcot-marie-tooth disease, axonal, type 2e	9.5	SPG11 SOD1 FIG4 ALS2
43	peripheral nervous system disease	9.5	SOD1 SETX OPTN FIG4 CRYAA
44	spinal and bulbar muscular atrophy, x-linked 1	9.4	TARDBP SOD1 FUS CRYAA
45	frontotemporal dementia	9.4	TARDBP SOD1 FUS CHMP2B
46	dementia	9.4	TARDBP SOD1 FUS CHMP2B
47	amyotrophic lateral sclerosis type 5	9.4	VAPB SPG11 SOD1 SETX ALS2
48	neuromuscular disease	9.4	SOD1 FUS FIG4 CRYAA ALS2
49	amyotrophic lateral sclerosis 18	9.3	VAPB SETX FUS FIG4 CHMP2B ALS2
50	supranuclear palsy, progressive, 1	9.3	TARDBP SOD1 FUS CHMP2B

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 12:

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Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 12

Human phenotypes related to Amyotrophic Lateral Sclerosis 12:

³¹

#	Description	HPO Source Accession
1	muscle weakness ³¹	HP:0001324
2	dysphagia ³¹	HP:0002015
3	dysarthria ³¹	HP:0001260
4	amyotrophic lateral sclerosis ³¹	HP:0007354
5	tongue fasciculations ³¹	HP:0001308

Clinical features from OMIM:

613435

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Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 12

Search Clinical Trials , NIH Clinical Center for Amyotrophic Lateral Sclerosis 12

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Genetic Tests for Amyotrophic Lateral Sclerosis 12

Genetic tests related to Amyotrophic Lateral Sclerosis 12:

#	Genetic test	Affiliating Genes
1	Amyotrophic Lateral Sclerosis Type 12 ²⁹	OPTN

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Anatomical Context for Amyotrophic Lateral Sclerosis 12

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 12:

⁴⁰

Brain, Spinal Cord, Tongue

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Publications for Amyotrophic Lateral Sclerosis 12

Articles related to Amyotrophic Lateral Sclerosis 12:

#	Title	Authors	PMID	Year
1	Mutations of optineurin in amyotrophic lateral sclerosis. ⁵⁶ ⁶	Maruyama H...Kawakami H	20428114	2010
2	RIPK1 mediates axonal degeneration by promoting inflammation and necroptosis in ALS. ⁵⁶	Ito Y...Yuan J	27493188	2016
3	Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease. ⁵⁶	Pottier C...Rademakers R	25943890	2015
4	EFNS guidelines on the clinical management of amyotrophic lateral sclerosis (MALS)--revised report of an EFNS task force. ⁶	EFNS Task Force on Diagnosis and Management of Amyotrophic Lateral Sclerosis:...Weber M	21914052	2012
5	Amyotrophic Lateral Sclerosis Overview ⁶	Siddique N...Siddique T	20301623	2001
6	Epidemiological features of degenerative brain diseases as they occurred in Yaounde referral hospitals over a 9-year period. ⁶¹	Kengne AP...Dongmo L	17068407	2006
7	Evaluation of health-related quality of life using the MOS 36-Item Short-Form Health Status Survey in patients receiving noninvasive positive pressure ventilation. ⁶¹	Windisch W...Petermann F	12618917	2003
8	Correlation of histopathological and clinical findings in neuromuscular diseases. ⁶¹	Rozhold O...Vojacek K	1838864	1991

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Genes for Amyotrophic Lateral Sclerosis 12

Genes related to Amyotrophic Lateral Sclerosis 12 (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	OPTN	Optineurin	Protein Coding	1324.37	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)	21914052 20301623 20428114
2	ALS2	Alsin Rho Guanine Nucleotide Exchange Factor ALS2	Protein Coding	7.32	DISEASES inferred ¹⁵
3	CRYAA	Crystallin Alpha A	Protein Coding	7.12	DISEASES inferred ¹⁵ ¹⁵
4	VAPB	VAMP Associated Protein B And C	Protein Coding	6.78	DISEASES inferred ¹⁵
5	SETX	Senataxin	Protein Coding	6.46	DISEASES inferred ¹⁵
6	ATP6V1E2	ATPase H+ Transporting V1 Subunit E2	Protein Coding	6.12	DISEASES inferred ¹⁵
7	FIG4	FIG4 Phosphoinositide 5-Phosphatase	Protein Coding	6.06	DISEASES inferred ¹⁵
8	CHMP2B	Charged Multivesicular Body Protein 2B	Protein Coding	5.9	DISEASES inferred ¹⁵
9	FUS	FUS RNA Binding Protein	Protein Coding	5.89	DISEASES inferred ¹⁵
10	SPG11	SPG11 Vesicle Trafficking Associated, Spatacsin	Protein Coding	5.83	DISEASES inferred ¹⁵
11	P3H3	Prolyl 3-Hydroxylase 3	Protein Coding	5.74	DISEASES inferred ¹⁵
12	SOD1	Superoxide Dismutase 1	Protein Coding	5.73	DISEASES inferred ¹⁵
13	ATP6V1D	ATPase H+ Transporting V1 Subunit D	Protein Coding	5.72	DISEASES inferred ¹⁵
14	TARDBP	TAR DNA Binding Protein	Protein Coding	5.71	DISEASES inferred ¹⁵

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Variations for Amyotrophic Lateral Sclerosis 12

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 12:

⁶ (show top 50) (show all 88) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	OPTN	NC_000010.11:g.(?_13109103)_(13136886_?)del	deletion	Pathogenic	529764		10:13151103-13178886	10:13109103-13136886
2	OPTN	NC_000010.10:g.(?_12833157)_(13178866_?)del	deletion	Pathogenic	584050		10:12833157-13178866
3	OPTN	NC_000010.11:g.(?_13109123)_(13183100_?)del	deletion	Pathogenic	583651		10:13151123-13225100	10:13109123-13183100
4	OPTN	NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs)	duplication	Pathogenic	576203	rs1564354968	10:13151279-13151280	10:13109279-13109280
5	OPTN	NM_001008212.2(OPTN):c.381_382insAG (p.Asp128fs)	insertion	Pathogenic	647662		10:13154464-13154465	10:13112464-13112465
6	OPTN	NC_000010.11:g.(?_13109113)_(13112645_?)del	deletion	Pathogenic	832940		10:13151113-13154645
7	OPTN	NC_000010.11:g.(?_13116257)_(13116350_?)del	deletion	Pathogenic	831344		10:13158257-13158350
8	OPTN	NM_001008212.2(OPTN):c.1217del (p.Thr406fs)	deletion	Pathogenic	873267		10:13168014-13168014	10:13126014-13126014
9	OPTN	NM_001008212.2(OPTN):c.76del (p.His26fs)	deletion	Pathogenic	873264		10:13151192-13151192	10:13109192-13109192
10	OPTN	OPTN, EX5DEL	deletion	Pathogenic	7100
11	OPTN	NM_001008212.2(OPTN):c.1192C>T (p.Gln398Ter)	SNV	Pathogenic	7101	rs267606928	10:13167989-13167989	10:13125989-13125989
12	OPTN	NM_001008212.2(OPTN):c.1433A>G (p.Glu478Gly)	SNV	Pathogenic	7102	rs267606929	10:13174098-13174098	10:13132098-13132098
13	OPTN	NM_001008212.2(OPTN):c.875dup (p.Glu293fs)	duplication	Likely pathogenic	873265		10:13164477-13164478	10:13122477-13122478
14	OPTN	NM_001008212.2(OPTN):c.1078_1079del (p.Lys360fs)	deletion	Likely pathogenic	873266		10:13167494-13167495	10:13125494-13125495
15	OPTN	NM_001008212.2(OPTN):c.403G>T (p.Glu135Ter)	SNV	Conflicting interpretations of pathogenicity	631627	rs140599944	10:13154486-13154486	10:13112486-13112486
16	OPTN	NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)	SNV	Conflicting interpretations of pathogenicity	7098	rs75654767	10:13178766-13178766	10:13136766-13136766
17	OPTN	NM_001008212.2(OPTN):c.489A>G (p.Glu163=)	SNV	Conflicting interpretations of pathogenicity	256881	rs113811959	10:13154572-13154572	10:13112572-13112572
18	OPTN	NM_001008212.2(OPTN):c.941A>T (p.Gln314Leu)	SNV	Conflicting interpretations of pathogenicity	266060	rs142812715	10:13166053-13166053	10:13124053-13124053
19	OPTN	NM_001008212.2(OPTN):c.444G>A (p.Val148=)	SNV	Conflicting interpretations of pathogenicity	299213	rs780011442	10:13154527-13154527	10:13112527-13112527
20	OPTN	NM_001008212.2(OPTN):c.573A>G (p.Ser191=)	SNV	Conflicting interpretations of pathogenicity	299215	rs773095721	10:13158287-13158287	10:13116287-13116287
21	OPTN	NM_001008212.2(OPTN):c.*1251C>G	SNV	Conflicting interpretations of pathogenicity	299236	rs542617940	10:13180117-13180117	10:13138117-13138117
22	OPTN	NM_001008212.2(OPTN):c.812G>A (p.Arg271His)	SNV	Conflicting interpretations of pathogenicity	877716		10:13164417-13164417	10:13122417-13122417
23	OPTN	NM_001008212.2(OPTN):c.867G>C (p.Glu289Asp)	SNV	Conflicting interpretations of pathogenicity	877717		10:13164472-13164472	10:13122472-13122472
24	OPTN	NM_001008212.2(OPTN):c.1633C>T (p.Arg545Trp)	SNV	Conflicting interpretations of pathogenicity	879707		10:13178765-13178765	10:13136765-13136765
25	OPTN	NM_001008212.2(OPTN):c.963C>T (p.Ser321=)	SNV	Conflicting interpretations of pathogenicity	299218	rs150381274	10:13166075-13166075	10:13124075-13124075
26	OPTN	NM_001008212.2(OPTN):c.1569G>A (p.Ala523=)	SNV	Conflicting interpretations of pathogenicity	299222	rs771316696	10:13175538-13175538	10:13133538-13133538
27	OPTN	NM_001008212.2(OPTN):c.1427A>G (p.His476Arg)	SNV	Uncertain significance	299220	rs886046821	10:13174092-13174092	10:13132092-13132092
28	OPTN	NM_001008212.2(OPTN):c.*938C>G	SNV	Uncertain significance	299232	rs886046826	10:13179804-13179804	10:13137804-13137804
29	OPTN	NM_001008212.2(OPTN):c.*1089G>A	SNV	Uncertain significance	299235	rs758812707	10:13179955-13179955	10:13137955-13137955
30	OPTN	NM_001008212.2(OPTN):c.*1385T>C	SNV	Uncertain significance	299238	rs546352206	10:13180251-13180251	10:13138251-13138251
31	OPTN	NM_001008212.2(OPTN):c.*1063C>A	SNV	Uncertain significance	299234	rs530046832	10:13179929-13179929	10:13137929-13137929
32	OPTN	NM_001008212.2(OPTN):c.*222G>C	SNV	Uncertain significance	877764		10:13179088-13179088	10:13137088-13137088
33	OPTN	NM_001008212.2(OPTN):c.*335C>T	SNV	Uncertain significance	877765		10:13179201-13179201	10:13137201-13137201
34	OPTN	NM_001008212.2(OPTN):c.*631A>G	SNV	Uncertain significance	878794		10:13179497-13179497	10:13137497-13137497
35	OPTN	NM_001008212.2(OPTN):c.*1111A>C	SNV	Uncertain significance	879768		10:13179977-13179977	10:13137977-13137977
36	OPTN	NM_001008212.2(OPTN):c.1243-9C>A	SNV	Uncertain significance	878758		10:13169736-13169736	10:13127736-13127736
37	OPTN	NM_001008211.1(OPTN):c.-408G>T	SNV	Uncertain significance	877641		10:13142127-13142127	10:13100127-13100127
38	OPTN	NM_001008212.2(OPTN):c.-184C>G	SNV	Uncertain significance	879254		10:13142282-13142282	10:13100282-13100282
39	OPTN	NM_001008212.2(OPTN):c.-172G>A	SNV	Uncertain significance	879255		10:13142294-13142294	10:13100294-13100294
40	OPTN	NM_001008212.2(OPTN):c.-9A>G	SNV	Uncertain significance	880441		10:13151114-13151114	10:13109114-13109114
41	OPTN	NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg)	SNV	Uncertain significance	880442		10:13151139-13151139	10:13109139-13109139
42	OPTN	NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys)	SNV	Uncertain significance	878705		10:13152466-13152466	10:13110466-13110466
43	OPTN	NM_001008212.2(OPTN):c.398G>A (p.Arg133Lys)	SNV	Uncertain significance	878706		10:13154481-13154481	10:13112481-13112481
44	OPTN	NC_000010.11:g.(?_13118878)_(13119050_?)del	deletion	Uncertain significance	832895		10:13160878-13161050
45	OPTN	NM_001008212.2(OPTN):c.605C>T (p.Thr202Met)	SNV	Uncertain significance	861585		10:13158319-13158319	10:13116319-13116319
46	OPTN	NM_001008212.2(OPTN):c.1533-3C>T	SNV	Uncertain significance	852864		10:13175499-13175499	10:13133499-13133499
47	OPTN	NM_001008212.2(OPTN):c.626+4T>C	SNV	Uncertain significance	848382		10:13158344-13158344	10:13116344-13116344
48	OPTN	NM_001008212.2(OPTN):c.1442C>T (p.Ala481Val)	SNV	Uncertain significance	447910	rs377219791	10:13174107-13174107	10:13132107-13132107
49	OPTN	NM_001008212.2(OPTN):c.403G>A (p.Glu135Lys)	SNV	Uncertain significance	651429		10:13154486-13154486	10:13112486-13112486
50	OPTN	NM_001008212.2(OPTN):c.1402-3C>G	SNV	Uncertain significance	650247		10:13174064-13174064	10:13132064-13132064

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 12:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	OPTN	p.Glu478Gly	VAR_063597	rs267606929
2	OPTN	p.Val295Phe	VAR_078108	rs761558354

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Expression for Amyotrophic Lateral Sclerosis 12

Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 12.

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Pathways for Amyotrophic Lateral Sclerosis 12

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GO Terms for Amyotrophic Lateral Sclerosis 12

Cellular components related to Amyotrophic Lateral Sclerosis 12 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell	GO:0005623	9.1	VAPB SPG11 SOD1 CHMP2B ATP6V1E2 ATP6V1D

Biological processes related to Amyotrophic Lateral Sclerosis 12 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	cell death	GO:0008219	9.37	OPTN ALS2
2	endosome organization	GO:0007032	9.32	CHMP2B ALS2
3	transferrin transport	GO:0033572	9.26	ATP6V1E2 ATP6V1D
4	gene expression	GO:0010467	9.16	TARDBP FUS
5	phagosome acidification	GO:0090383	8.96	ATP6V1E2 ATP6V1D
6	locomotory behavior	GO:0007626	8.8	SOD1 FIG4 ALS2

Molecular functions related to Amyotrophic Lateral Sclerosis 12 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.97	VAPB TARDBP SPG11 SOD1 SETX OPTN
2	identical protein binding	GO:0042802	9.17	TARDBP SOD1 SETX OPTN FUS CRYAA
3	proton-transporting ATPase activity, rotational mechanism	GO:0046961	8.96	ATP6V1E2 ATP6V1D

Sources

Sources for Amyotrophic Lateral Sclerosis 12

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Amyotrophic Lateral Sclerosis 12 (ALS12)

Aliases & Classifications for Amyotrophic Lateral Sclerosis 12

MalaCards integrated aliases for Amyotrophic Lateral Sclerosis 12:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Amyotrophic Lateral Sclerosis 12

Related Diseases for Amyotrophic Lateral Sclerosis 12

Diseases in the Juvenile Amyotrophic Lateral Sclerosis family:

Diseases related to Amyotrophic Lateral Sclerosis 12 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Amyotrophic Lateral Sclerosis 12:

Symptoms & Phenotypes for Amyotrophic Lateral Sclerosis 12

Human phenotypes related to Amyotrophic Lateral Sclerosis 12:

Clinical features from OMIM:

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 12

Genetic Tests for Amyotrophic Lateral Sclerosis 12

Genetic tests related to Amyotrophic Lateral Sclerosis 12:

Anatomical Context for Amyotrophic Lateral Sclerosis 12

MalaCards organs/tissues related to Amyotrophic Lateral Sclerosis 12:

Publications for Amyotrophic Lateral Sclerosis 12

Articles related to Amyotrophic Lateral Sclerosis 12:

Genes for Amyotrophic Lateral Sclerosis 12

Genes related to Amyotrophic Lateral Sclerosis 12 (1 elite genes):

Variations for Amyotrophic Lateral Sclerosis 12

ClinVar genetic disease variations for Amyotrophic Lateral Sclerosis 12:

UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 12:

Expression for Amyotrophic Lateral Sclerosis 12

Pathways for Amyotrophic Lateral Sclerosis 12

GO Terms for Amyotrophic Lateral Sclerosis 12

Cellular components related to Amyotrophic Lateral Sclerosis 12 according to GeneCards Suite gene sharing:

Biological processes related to Amyotrophic Lateral Sclerosis 12 according to GeneCards Suite gene sharing:

Molecular functions related to Amyotrophic Lateral Sclerosis 12 according to GeneCards Suite gene sharing:

Sources for Amyotrophic Lateral Sclerosis 12