HomeFunctional AnalysisC. elegans genes associated with high-impact human diseases

C. elegans has phenotypes that can be directly related to human genes, with homologs identified for up to 80% of human genes

Some of the most economically and socially impactful diseases in our time are known to have genetic risk factors. Through basic and clinical research, top genes that are mutated in each disease have been identified. C. elegans has homologs to many of these genes because the biochemical signaling pathways that underlie them are evolutionarily old.

Here we provide a table of the top genes associated with some high-impact diseases and the corresponding C. elegans gene. Interestingly, mutations to the homologous genes in C. elegans create quantifiable phenotypes that allow researchers to delve deeper into biological mechanism and screen compounds that may affect the phenotypic expression of a disease-associated mutation.

Linking human disease genes and C. elegans genes and their corresponding phenotypes. Learn more.


Human Phenotype
Memory loss
Plaques: a-beta protein accumulation
Neurofibrillary tangles, tau tangles

Worm Phenotype
Weakened neuromuscluar function

Human Gene Worm Gene Homolog
PSEN1 sel-12
APP apl-1
APOE [Not Identified]
PSEN2 sel-12
SORL1 egg-1
MAPT ptl-1
BDNF [Not Identified]
IL1B C44B12.6
BACE1 asp-15
ACE acn-1

Amyotrophic Lateral Sclerosis

Human Phenotype
Progressive motor neuron weakness

Worm Phenotype
Weakend muscular contraction

Human Gene Worm Gene Homolog
TARDBP tdp-1
UNC13A unc-13
SOD1 sod-1
SQSTM1 sqst-4
CHMP2B C01A2.4
C9ORF72 alfa-1
PON1 poml-2
FUS fust-1
ANG [Not Identified]
VCP cdc-48.1, cdc-48.2
ATXN2 atx-2

Spinal Muscular Atrophy

Human Phenotype
progressive motor neuron degeneration, muscle weakness

Worm Phenotype
Weakened muscular contraction

Human Gene Worm Gene Homolog
SMN1 smn-1
SMN2 smn-1
DYNC1H1 dhc-1
TRPV4 osm-9
BICD2 bicd-1
IGHMBP2 eri-7
VRK1 vrk-1
UBA1 uba-1
ASAH1 asah-1
VAPB vpr-1


Human Phenotype
Muscular weakness
Dopaminergic signaling loss

Human Gene Worm Gene Homolog
LRRK2 lrk-1,
SNCA [Not Identified]
PARK2 pdr-1
PINK1 pink-1
MAPT ptl-1
GBA gba-3, gba-4, gba-1, gba-2
PARK7 djr-1.1, djr-1.2
DRD1 dop-1
IGF1R daf-2
MAOB amx-2, amx-1

Premature Aging

Human Gene Worm Gene Homolog
WRN wrn-1, K02F3.12, him-6
KL klo-1, klo-2
ERCC6 csb-1, btf-1, F53H4.6
APP apl-1
LMNA lmn-1, ifa-1, ifb-1
BLM him-6
ELK1 lin-1
ZMPSTE24 fce-1
RECQL4 wrn-1
TP53 [Not Identified]


Human Gene Worm Gene Homolog
MAGI2 magi-1
DISC1 myo-5
DTNBP1 dsbn-1
COMT comt-3, comt-2, comt-4, comt-1
HTR2A ser-1
NRG1 igeg-1
GJA8 [Not Identified]
DISC2 [Not Identified]
ATP2A2 sca-1, pmr-1
GJA5 [Not Identified]

Linking human disease genes and C. elegans genes and their corresponding phenotypes. 

Although the phenotypes of the human diseases and the mutant defects in C. elegans seem about as unrelated as possible, the cellular and molecular details of many of these defects are highly related. Using C. elegans as a model organism, much can be learned at the cellular and molecular level about a specific biological process, by understanding the mode of action of the orthologous genes involved.

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