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: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype 0.410 None 1.000 0 0 2003 2003
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype 0.200 None 1.000 0 0 2000 2018
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		disease 0.200 None 1.000 0 0 2002 2018
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0271270
Disease: Oculovestibuloauditory syndrome
Oculovestibuloauditory syndrome 		disease 0.180 None 1.000 0 0 2003 2018
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0239981
Disease: Hypoalbuminemia
Hypoalbuminemia 		disease 0.140 None 1.000 0 0 2002 2007
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		group 0.130 None 1.000 0 0 2004 2011
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease 0.120 None 1.000 0 0 2006 2019
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0085583
Disease: Choreoathetosis
Choreoathetosis 		disease 0.110 None 1.000 0 0 2000 2000
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		disease 0.110 None 1.000 0 0 2003 2003
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0750937
Disease: Ataxia, Appendicular
Ataxia, Appendicular 		phenotype 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C1837496
Disease: Axonal degeneration
Axonal degeneration 		phenotype 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow 		disease 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment 		phenotype 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy 		disease 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C1859606
Disease: Decreased number of large peripheral myelinated nerve fibers
Decreased number of large peripheral myelinated nerve fibers 		phenotype 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0013362
Disease: Dysarthria
Dysarthria 		disease 0.100 None 1.000 0 0 2017 2017
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C4025830
Disease: Peripheral axonal degeneration
Peripheral axonal degeneration 		phenotype 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0040822
Disease: Tremor
Tremor 		phenotype 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia 		phenotype 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		disease 0.100 None 0 0
Entrez Id: 54840
Gene Symbol: APTX
APTX 		aprataxin 0.590 0.500 4.0E-10
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype 0.100 None 0 0