Genes in ALSOD

Select Category Description
Definitive ALS gene Variants in these genes have been shown to increase the risk of ALS based on a statistical test. The highest class of statistical evidence comes from genetic linkage studies, however genome-wide association studies with appropriate functional evidence or strong replication evidence, may also be considered to indicate a gene having variants that can cause ALS.
Clinical modifier Genetic variants in these genes have been linked to a difference in the clinical phenotype of ALS, often disease duration.
Strong evidence Variants in these genes have been shown to increase ALS risk in well-conducted recent studies, but require replication or resolution of conflicting evidence.
Moderate evidence Variants in these genes have been associated with ALS in smaller studies or there may be very contradictory evidence.
Tenuous Genetic variants in these genes have been associated with ALS in smaller studies published some time ago that have not stood up to replication. They may also be genes that have been associated with ALS-like diseases, which are no longer recognised as a clinical diagnosis of ALS – for example some juvenile motor neuron disorders.
Unassigned Variants in these genes have been linked to ALS phenotype but the category has not yet been assigned.

Gene symbol Gene name Category
AGT angiotensinogen Tenuous
ALAD aminolevulinate dehydratase Tenuous
ALS2 alsin Rho guanine nucleotide exchange factor ALS2 Tenuous
ALS3 amyotrophic lateral sclerosis 3 (autosomal dominant) Tenuous
ALS7 amyotrophic lateral sclerosis 7 Tenuous
ANG angiogenin Moderate evidence
ANXA11 annexin A11 Definitive ALS gene
APEX1 apurinic/apyrimidinic endodeoxyribonuclease 1 Tenuous
APOE apolipoprotein E Tenuous
AR androgen receptor Tenuous
ARHGEF28 rho guanine nucleotide exchange factor 28 Moderate evidence
ARPP21 cAMP Regulated Phosphoprotein 21 Tenuous
ATXN1 ataxin 1 Strong evidence
ATXN2 ataxin 2 Clinical modifier
B4GALT6 beta-1,4-galactosyltransferase 6 Tenuous
BCL11B BAF chromatin remodeling complex subunit BCL11B Tenuous
BCL6 BCL6 transcription repressor Tenuous
C9orf72 C9orf72-SMCR8 complex subunit Definitive ALS gene
CAMTA1 Calmodulin brinding transcriptions activator 1 Clinical modifier
CAV1 caveolin 1 Unassigned
CAV2 caveolin 2 Unassigned
CCNF cyclin F Strong evidence
CCS copper chaperone for superoxide dismutase Tenuous
CDH13 cadherin 13 Tenuous
CDH22 cadherin 22 Moderate evidence
CFAP410 Cilia and Flagella Associated Protein 410 Strong evidence
CHCHD10 coiled-coil-helix-coiled-coil-helix domain containing 10 Definitive ALS gene
CHGB chromogranin B Tenuous
CHMP2B charged multivesicular body protein 2B Moderate evidence
CNTF ciliary neurotrophic factor Tenuous
CNTN4 contactin 4 Tenuous
CNTN6 contactin 6 Moderate evidence
CRIM1 cysteine rich transmembrane BMP regulator 1 Tenuous
CRYM crystallin mu Moderate evidence
CSNK1G3 casein kinase 1 gamma 3 Moderate evidence
CST3 cystatin C Tenuous
CX3CR1 C-X3-C motif chemokine receptor 1 Moderate evidence
CYP2D6 Cytochrome P450 family 2 subfamily D member 6 Tenuous
DAO D-amino acid oxidase Moderate evidence
DCTN1 dynactin subunit 1 Tenuous
DIAPH3 diaphanous related formin 3 Tenuous
DISC1 DISC1 scaffold protein Tenuous
DNAJC7 DnaJ heat shock protein family (Hsp40) member C7 Moderate evidence
DNMT3A DNA methyltransferase 3 alpha Moderate evidence
DNMT3B DNA methyltransferase 3 beta Tenuous
DOC2B double C2 domain beta Tenuous
DPP6 dipeptidyl peptidase like 6 Tenuous
DYNC1H1 dynein cytoplasmic 1 heavy chain 1 Tenuous
EFEMP1 EGF containing fibulin extracellular matrix protein 1 Tenuous
ELP3 elongator acetyltransferase complex subunit 3 Tenuous
ENAH ENAH actin regulator Clinical modifier
EphA3 EPH receptor A3 Tenuous
EPHA4 EPH receptor A4 Definitive ALS gene
ERBB4 erb-b2 receptor tyrosine kinase 4 Moderate evidence
ERLIN1 ER lipid raft associated 1 Tenuous
EWSR1 EWS RNA binding protein 1 Tenuous
FEZF2 FEZ family zinc finger 2 Tenuous
FGGY FGGY carbohydrate kinase domain containing Tenuous
FIG4 FIG4 phosphoinositide 5-phosphatase Moderate evidence
FUS FUS RNA binding protein Definitive ALS gene
GARS glycyl-tRNA synthetase 1 Tenuous
GLE1 GLE1 RNA export mediator Moderate evidence
GLT8D1 glycosyltransferase 8 domain containing 1 Tenuous
GPX3 glutathione peroxidase 3 Moderate evidence
GRB14 growth factor receptor bound protein 14 Tenuous
GRN granulin precursor Tenuous
HEXA hexosaminidase subunit alpha Tenuous
HFE homeostatic iron regulator Strong evidence
HNRNPA1 heterogeneous nuclear ribonucleoprotein A1 Definitive ALS gene
HNRNPA2B1 heterogeneous nuclear ribonucleoprotein A2/B1 Tenuous
ITPR2 inositol 1,4,5-triphosphate receptor type 2 Tenuous
KDR kinase insert domain receptor Tenuous
KIF5A kinesin family member 5A Definitive ALS gene
KIFAP3 kinesin associated protein 3 Tenuous
LIF LIF interleukin 6 family cytokine Tenuous
LIPC lipase C, hepatic type Tenuous
LMNB1 lamin B1 Moderate evidence
LOX lysyl oxidase Tenuous
LUM lumican Tenuous
MAOB monoamine oxidase B Tenuous
MAPT microtubule associated protein tau Tenuous
MATR3 matrin 3 Tenuous
MOBP myelin associated oligodendrocyte basic protein Tenuous
MTND2P1 MT-ND2 pseudogene 1 Tenuous
NAIP NLR family apoptosis inhibitory protein Tenuous
NEFH neurofilament heavy Tenuous
NEFL neurofilament light Tenuous
NEK1 NIMA related kinase 1 Definitive ALS gene
NETO1 neuropilin and tolloid like 1 Tenuous
NIPA1 NIPA magnesium transporter 1 Strong evidence
NT5C1A 5'-nucleotidase, cytosolic IA Tenuous
ODR4 odr-4 GPCR localization factor homolog Tenuous
OGG1 8-oxoguanine DNA glycosylase Tenuous
OMA1 OMA1 zinc metallopeptidase Tenuous
OPTN optineurin Definitive ALS gene
PARK7 Parkinsonism associated deglycase Tenuous
PCP4 Purkinje cell protein 4 Tenuous
PFN1 profilin 1 Definitive ALS gene
PLEKHG5 pleckstrin homology and RhoGEF domain containing G5 Tenuous
PNPLA6 patatin like phospholipase domain containing 6 Tenuous
PON1 paraoxonase 1 Tenuous
PON2 paraoxonase 2 Tenuous
PON3 paraoxonase 3 Tenuous
PRPH peripherin Tenuous
PSEN1 presenilin-1 Tenuous
PVR PVR cell adhesion molecule Tenuous
RAMP3 receptor activity modifying protein 3 Tenuous
RBMS1 RNA binding motif single stranded interacting protein 1 Tenuous
RFTN1 raftlin, lipid raft linker 1 Tenuous
RNASE2 ribonuclease A family member 2 Tenuous
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase Tenuous
SARM1 sterile alpha and TIR motif containing 1 Moderate evidence
SCFD1 sec1 family domain containing 1 Strong evidence
SCN7A sodium voltage-gated channel alpha subunit 7 Tenuous
SELL selectin L Tenuous
SEMA6A semaphorin 6A Tenuous
SETX senataxin Tenuous
SIGMAR1 sigma non-opioid intracellular receptor 1 Tenuous
SLC1A2 solute carrier family 1 member 2 Tenuous
SLC39A11 solute carrier family 39 member 11 Tenuous
SLC52A3 solute carrier family 52 member 3 Tenuous
SMN1 survival of motor neuron 1, telomeric Moderate evidence
SMN2 survival of motor neuron 2, centromeric Tenuous
SNCG synuclein Tenuous
SOD1 superoxide dismutase 1 Definitive ALS gene
SOD2 superoxide dismutase 2 Tenuous
SOX5 SRY-box transcription factor 5 Tenuous
SPAST spastin Tenuous
SPG11 SPG11 vesicle trafficking associated, spatacsin Tenuous
SPG7 SPG7 matrix AAA peptidase subunit, paraplegin Tenuous
SQSTM1 sequestosome 1 Moderate evidence
SS18L1 SS18L1 subunit of BAF chromatin remodeling complex Moderate evidence
SUSD1 sushi domain containing 1 Tenuous
SYNE1 spectrin repeat containing nuclear envelope protein 1 Tenuous
SYT9 synaptotagmin 9 Tenuous
TAF15 TATA-box binding protein associated factor 15 Tenuous
TARDBP TAR DNA binding protein Definitive ALS gene
TBK1 TANK binding kinase 1 Definitive ALS gene
TIA1 TIA1 cytotoxic granule associated RNA binding protein Tenuous
TNIP1 TNFAIP3 interacting protein 1 Moderate evidence
TRPM7 transient receptor potential cation channel subfamily M member 7 Tenuous
TUBA4A tubulin alpha 4a Strong evidence
UBQLN1 ubiquilin 1 Tenuous
UBQLN2 ubiquilin 2 Definitive ALS gene
UNC13A unc-13 homolog A Definitive ALS gene
VAPB VAMP associated protein B and C Definitive ALS gene
VCP valosin containing protein Definitive ALS gene
VDR vitamin D receptor Tenuous
VEGFA vascular endothelial growth factor A Tenuous
VPS54 VPS54 subunit of GARP complex Tenuous
VRK1 VRK serine/threonine kinase 1 Tenuous
ZFP64 ZFP64 zinc finger protein Tenuous
ZNF512B zinc finger protein 512B Tenuous
ZNF746 zinc finger protein 746 Tenuous