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: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C0587246
Disease: Muscle weakness of limb
Muscle weakness of limb 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1838114
Disease: Generalized limb muscle atrophy
Generalized limb muscle atrophy 		disease 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1843637
Disease: Neck flexor weakness
Neck flexor weakness 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1843643
Disease: Nocturnal hypoventilation
Nocturnal hypoventilation 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1843697
Disease: Axial muscle weakness
Axial muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1843700
Disease: Increased variability in muscle fiber diameter
Increased variability in muscle fiber diameter 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1848873
Disease: Abnormality of the diaphragm
Abnormality of the diaphragm 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1850573
Disease: Slender build
Slender build 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1853171
Disease: Multiple prenatal fractures
Multiple prenatal fractures 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1145670
Disease: Respiratory Failure
Respiratory Failure 		disease 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		disease 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		disease 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1836003
Disease: Facial diplegia
Facial diplegia 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1837262
Disease: Increased muscle lipid content
Increased muscle lipid content 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 10324
Gene Symbol: KLHL41
KLHL41 		kelch like family member 41 0.682 0.538 1.1E-04
CUI: C3808039
Disease: Nemaline bodies
Nemaline bodies 		phenotype 0.100 None 0 0