Source: HPO

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1848873
Disease: Abnormality of the diaphragm
Abnormality of the diaphragm 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C1858025
Disease: Spinal rigidity
Spinal rigidity 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		disease 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C4022585
Disease: Fatigable weakness of distal limb muscles
Fatigable weakness of distal limb muscles 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C4022583
Disease: Fatiguable weakness of proximal limb muscles
Fatiguable weakness of proximal limb muscles 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		phenotype 0.100 None 0 0
Entrez Id: 56203
Gene Symbol: LMOD3
LMOD3 		leiomodin 3 0.700 0.423 1.6E-07
CUI: C2732374
Disease: Edema of dorsum of hand
Edema of dorsum of hand 		phenotype 0.100 None 0 0