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: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C1854301
Disease: Motor delay
Motor delay 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		disease 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C0476408
Disease: Reduced vital capacity
Reduced vital capacity 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C1854494
Disease: Slow progression
Slow progression 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C1857304
Disease: Flexion contracture of finger
Flexion contracture of finger 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
Congenital Dysplasia Of The Hip 		disease 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C4023180
Disease: Type 1 muscle fiber atrophy
Type 1 muscle fiber atrophy 		disease 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C4022591
Disease: Fatigable weakness of bulbar muscles
Fatigable weakness of bulbar muscles 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C4021726
Disease: EMG: myopathic abnormalities
EMG: myopathic abnormalities 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C3806467
Disease: Respiratory insufficiency due to muscle weakness
Respiratory insufficiency due to muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C1866934
Disease: Reduced tendon reflexes
Reduced tendon reflexes 		phenotype 0.100 None 0 0
Entrez Id: 51776
Gene Symbol: MAP3K20
MAP3K20 		mitogen-activated protein kinase kinase kinase 20 0.564 0.769 8.4E-09
CUI: C1866021
Disease: Increased connective tissue
Increased connective tissue 		phenotype 0.100 None 0 0