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: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C4024993
Disease: Aplasia/Hypoplasia of the clavicles
Aplasia/Hypoplasia of the clavicles 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C4552855
Disease: Agitation, CTCAE 5.0
Agitation, CTCAE 5.0 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C4552811
Disease: Generalized Muscle Weakness, CTCAE
Generalized Muscle Weakness, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C4282407
Disease: Sparse and thin eyebrow
Sparse and thin eyebrow 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C4082169
Disease: Metatarsus Varus
Metatarsus Varus 		disease 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C4073132
Disease: Abnormal pelvis bone morphology
Abnormal pelvis bone morphology 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C4025828
Disease: Abnormality of the scapula
Abnormality of the scapula 		disease 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C4025132
Disease: Shortening of all distal phalanges of the toes
Shortening of all distal phalanges of the toes 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C4022588
Disease: Fatigable weakness of swallowing muscles
Fatigable weakness of swallowing muscles 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C4022587
Disease: Fatigable weakness of respiratory muscles
Fatigable weakness of respiratory muscles 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C2675547
Disease: Slender long bones with narrow diaphyses
Slender long bones with narrow diaphyses 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1963060
Disease: Agitation, CTCAE 3.0
Agitation, CTCAE 3.0 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1862159
Disease: Short proximal phalanx of hallux
Short proximal phalanx of hallux 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1862152
Disease: Aplasia/Hypoplasia of the middle phalanges of the hand
Aplasia/Hypoplasia of the middle phalanges of the hand 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1861336
Disease: Aplasia/Hypoplasia of the distal phalanges of the hand
Aplasia/Hypoplasia of the distal phalanges of the hand 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1861324
Disease: Short philtrum
Short philtrum 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C2677180
Disease: Congenital microcephaly
Congenital microcephaly 		disease 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C4022432
Disease: Bilateral external ear deformity
Bilateral external ear deformity 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C4021834
Disease: Abnormal parietal bone morphology
Abnormal parietal bone morphology 		phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C4021167
Disease: Tapered toe
Tapered toe 		disease 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C3697248
Disease: Short lower third of face
Short lower third of face 		phenotype 0.100 None 0 0