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: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
disease 0.420 None 1.000 0 0 2009 2017
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C0241391
Disease: Thumb absent
Thumb absent
phenotype 0.400 strong 1.000 0 0 2013 2013
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia
disease 0.400 strong 1.000 0 0 2013 2013
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C0266464
Disease: Polymicrogyria
Polymicrogyria
disease 0.120 None 1.000 0 0 2014 2016
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis
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: C1849172
Disease: Frontal lobe hypoplasia
Frontal lobe hypoplasia
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: C1848977
Disease: Short upper lip
Short upper lip
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: C1847906
Disease: Onion bulb formation
Onion bulb formation
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: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
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: C1846950
Disease: Short middle phalanx of finger
Short middle phalanx of finger
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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia
phenotype 0.100 None 0 0
Entrez Id: 9896
Gene Symbol: FIG4
FIG4
FIG4 phosphoinositide 5-phosphatase 0.551 0.731 2.3E-34
Neuronal loss in central nervous system
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: C1857665
Disease: Aplastic clavicle
Aplastic clavicle
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: C1857640
Disease: Decreased nerve conduction velocity
Decreased nerve conduction velocity
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: C1857074
Disease: Absent sternal ossification
Absent sternal ossification
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: C1857042
Disease: Sparse scalp hair
Sparse scalp hair
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: C1856507
Disease: Bulbar signs
Bulbar signs
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: C1855514
Disease: Severe failure to thrive
Severe failure to thrive
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: C1853235
Disease: Sclerocornea
Sclerocornea
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: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones
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: C1845123
Disease: Generalized neonatal hypotonia
Generalized neonatal hypotonia
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: C1844548
Disease: Hypoplastic finger
Hypoplastic finger
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: C1836213
Disease: Aplasia/Hypoplasia of the hallux
Aplasia/Hypoplasia of the 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: C1836195
Disease: Short toe
Short toe
phenotype 0.100 None 0 0