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: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C0266623
Disease: Congenital anomaly of neck
Congenital anomaly of neck 		group 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		group 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		group 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4 		FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1859077
Disease: Aplasia/Hypoplasia of the nails
Aplasia/Hypoplasia of the nails 		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: C0233763
Disease: Hallucinations, Visual
Hallucinations, Visual 		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: C0239676
Disease: High forehead
High forehead 		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: C3150086
Disease: Aplasia/Hypoplasia of the nipples
Aplasia/Hypoplasia of the nipples 		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: C3697248
Disease: Short lower third of face
Short lower third of face 		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: C0349588
Disease: Short stature
Short stature 		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: C0425795
Disease: Absent nipple (finding)
Absent nipple (finding) 		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: C4023557
Disease: Abnormality of dental structure
Abnormality of dental structure 		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: C0426886
Disease: Tapering fingers (finding)
Tapering fingers (finding) 		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: C4024173
Disease: Aplasia of the distal phalanges of the hand
Aplasia 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: C0522224
Disease: Paralysed
Paralysed 		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: 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: 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: C0850703
Disease: Frequent falls
Frequent falls 		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: C4553743
Disease: Spasticity, CTCAE
Spasticity, 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: C1384666
Disease: hearing impairment
hearing impairment 		phenotype 0.100 None 0 0