Gene–trait link
Signs & symptoms
22 supporting sources
confidence 97%
novelty 75%
LHX1 appears alongside skeleton and limbs in 15 sources
Across the collected corpus, the gene LHX1 co-occurs with skeleton and limbs in 15 independent documents (of 45 documents mentioning LHX1 and 55 mentioning skeleton and limbs). Association strength 0.27.
How this was derived
Co-occurrence is an *observation about the literature*, not proof of causation: it says these topics are discussed together in the sources we hold.
Generated 2026-11-13, last changed
today. Dedup key assoc:LHX1:musculoskeletal.
The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.
Evidence (4 quotes)
Genetic Susceptibility to Sport-Related Muscle Injuries: Insights from the Literature and Novel Gene Candidates
peer_reviewed
· published 2025-01-01
· live page
Abstract Physical activity is widely recognized for its health benefits; however, it also increases the risk of musculoskeletal soft tissue injuries, with muscle-related cases constituting a considerable proportion. These injuries impair well-being, athletic performance, and c…
In-Depth Phenotyping of PIGW -Related Disease and Its Role in 17q12 Genomic Disorder
peer_reviewed
· published 2024-01-01
· live page
…bsence of alternative etiology and the already described widely spaced teeth [ 10 , 14 ], tooth agenesis could be a new finding. An additional unique skeletal finding was a duplicated hallux found in P4. Skeletal and extremity anomalies were frequent in the PIGW cohort. Some fetuses presented shortening of…
Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single‐Gene BDH1 Duplications
peer_reviewed
· published 2024-01-01
· live page
…ominent supraorbital ridges, wide nasal bridge, cleft ala nasi, microretrognathia, gothic palate, short neck, funnel chest, nipple hypertelorism, and flat feet. A single‐gene duplication of the BDH1 gene, a candidate gene for chromosome 3q29 duplication syndrome (OMIM 611936), was detected in Patient 3.1 (ar…
Precision Medicine in Pediatric Nephrology: From Shared Clinical Phenotypes to Genotype-Guided Diagnosis and Management
peer_reviewed
· published 2026-01-01
· live page
…ease or kidney failure, consanguinity, and extrarenal findings. Assessment of hearing, vision, hematologic, neurodevelopmental, hepatopancreatic, and skeletal or dysmorphic features may reveal a syndromic diagnosis not apparent from the kidney phenotype alone [ 1 , 2 , 3 ]. Encoding granular observations wi…