Paralytic strabismus

Summary

Paralytic strabismus (MONDO:0001143) is a disease with 7 GWAS associations across 11 studies. A subtype of strabismus — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 7

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	paralytic strabismus
Mondo ID	MONDO:0001143
EFO	EFO:0009678
DOID	DOID:10863
ICD-10-CM	H49
ICD-11	1858781487
SNOMED CT	400942002
UMLS	C0152221
MedGen	508935
Is cancer (heuristic)	no

Also known as: paralytic squint

Data availability: 7 GWAS associations (11 studies) · 1 HPO phenotype.

Disease family

This is a subtype of strabismus. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › cranial nerve neuropathy › ocular motility disease › strabismus › paralytic strabismus

Related subtypes (10): exotropia, conjugate gaze palsy, intermittent squint, internuclear ophthalmoplegia, mechanical strabismus, hypertropia, cyclotropia, esotropia, hypotropia, monofixation syndrome

Genetics & variants

GWAS landscape

7 GWAS associations across 11 studies. Top hits map to 5 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs181930706	2e-12	NEDD9	G	2.13
rs138806634	6e-12	PADI2 - LINC02783	C	3.9
rs79661416	1e-11	NAV2	G	2.02
rs76659506	2e-11	PIWIL2	C	2.23
rs75007073	2e-11	PARN	C	2.37
rs566500416	3e-11	VTCN1P1 - NIPAL1P1	G	2.83
rs146697300	1e-09	PHACTR1	?

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90477772	Verma A	2024	2,392	447,453	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473446	UK Biobank Whole-Genome Sequencing Consortium	2025	893	457,547	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90079855	Backman JD	2021	539	386,953	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083841	Backman JD	2021	539	386,953	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90477771	Verma A	2024	506	121,121	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90480097	Verma A	2024	506	121,121	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90481939	Verma A	2024	443	59,298	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90726801	Kim HI	2026	337	43,689	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.
GCST90436021	Zhou W	2018	277	401,245	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90651310	Liu TY	2025	219	213,222	Diversity and longitudinal records: Genetic architecture of disease associations and polygenic risk in the Taiwanese Han population.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	2
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	5

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	0
rare (<0.01)	6
unknown	1

Functional consequences

Consequence	Count
intron_variant	3
intergenic_variant	2
missense_variant	2

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs181930706	6	11377969	G>A	0.001	intron_variant	NEDD9	2e-12	Tier 4: intronic/intergenic
rs138806634	1	17174147	C>G,T	0	intergenic_variant	PADI2 - LINC02783	6e-12	Tier 4: intronic/intergenic
rs79661416	11	19801507	G>T	0.001	intron_variant	NAV2	1e-11	Tier 4: intronic/intergenic
rs76659506	8	22281440	C>G,T	0.001	missense_variant	PIWIL2	2e-11	Tier 1: coding
rs75007073	16	14447011	C>T	0	missense_variant	PARN	2e-11	Tier 1: coding
rs566500416	20	25106508	G>A	0	intergenic_variant	VTCN1P1 - NIPAL1P1	3e-11	Tier 4: intronic/intergenic
rs146697300	6	13113745	C>T		intron_variant	PHACTR1	1e-09	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.