FIG4, FIG4 phosphoinositide 5-phosphatase, 9896

N. diseases: 223; N. variants: 32
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4023676
Disease: Increased nuchal translucency
Increased nuchal translucency 		phenotype Pathological Conditions, Signs and Symptoms Finding 30 2 0.100 None 0
CUI: C4023557
Disease: Abnormality of dental structure
Abnormality of dental structure 		phenotype Anatomical Abnormality 2 0.100 None 0
CUI: C4022964
Disease: Abnormality of the occipital bone
Abnormality of the occipital bone 		phenotype Anatomical Abnormality 4 1 0.100 None 0
CUI: C4022717
Disease: Narrow nasal base
Narrow nasal base 		phenotype Finding 2 0.100 None 0
CUI: C4022588
Disease: Fatigable weakness of swallowing muscles
Fatigable weakness of swallowing muscles 		phenotype Finding 39 0.100 None 0
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		phenotype Finding 60 0.100 None 0
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		phenotype Anatomical Abnormality 9 0.100 None 0
CUI: C4024173
Disease: Aplasia of the distal phalanges of the hand
Aplasia of the distal phalanges of the hand 		phenotype Finding 2 0.100 None 0
CUI: C4024927
Disease: Peripheral hypomyelination
Peripheral hypomyelination 		phenotype Finding 7 1 0.100 None 0
CUI: C4024991
Disease: Aplasia/Hypoplasia of the scapulae
Aplasia/Hypoplasia of the scapulae 		phenotype Finding 2 0.100 None 0
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype Finding 87 0.100 None 0
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype Finding 117 0.100 None 0
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype Finding 68 8 0.100 None 0
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		disease Musculoskeletal Diseases Anatomical Abnormality 41 3 0.100 None 0
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology 		phenotype Anatomical Abnormality 4 1 0.100 None 0
CUI: C4025828
Disease: Abnormality of the scapula
Abnormality of the scapula 		disease Anatomical Abnormality 3 0.100 None 0
CUI: C4025132
Disease: Shortening of all distal phalanges of the toes
Shortening of all distal phalanges of the toes 		phenotype Anatomical Abnormality 3 0.100 None 0
CUI: C4024993
Disease: Aplasia/Hypoplasia of the clavicles
Aplasia/Hypoplasia of the clavicles 		phenotype Finding 5 1 0.100 None 0
CUI: C4021167
Disease: Tapered toe
Tapered toe 		disease Anatomical Abnormality 4 1 0.100 None 0
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype Finding 33 3 0.100 None 0
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		phenotype Finding 427 32 0.100 None 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype Finding 182 25 0.100 None 0
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype Finding 121 11 0.100 None 0
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		phenotype Pathological Conditions, Signs and Symptoms Finding 14 4 0.100 None 0