Source: INFERRED

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: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C2746066
Disease: Combined D-2- and L-2-hydroxyglutaric aciduria
Combined D-2- and L-2-hydroxyglutaric aciduria 		disease 0.720 strong 1.000 0 5 2013 2018
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C4748678
Disease: MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC
MYASTHENIC SYNDROME, CONGENITAL, 23, PRESYNAPTIC 		disease 0.600 strong 1.000 0 1 2018 2019
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0036572
Disease: Seizures
Seizures 		phenotype 0.120 None 1.000 0 0 2012 2018
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0028738
Disease: Nystagmus
Nystagmus 		disease 0.110 None 1.000 0 0 2017 2017
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group 0.110 None 1.000 0 0 2020 2020
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		disease 0.110 None 1.000 0 1 2006 2006
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease 0.110 None 1.000 0 1 2013 2013
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C1839546
Disease: Microretrognathia
Microretrognathia 		phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C1844945
Disease: Episodic respiratory distress
Episodic respiratory distress 		phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C1837142
Disease: Poor suck
Poor suck 		phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C1837098
Disease: Easy fatigability
Easy fatigability 		phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C1836047
Disease: Long face
Long face 		phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0575157
Disease: Deformity of spine
Deformity of spine 		disease 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		disease 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		disease 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0746674
Disease: Generalized muscle weakness
Generalized muscle weakness 		phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0751401
Disease: Ophthalmoparesis
Ophthalmoparesis 		phenotype 0.100 None 0 1
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0850703
Disease: Frequent falls
Frequent falls 		phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C0947912
Disease: Myasthenias
Myasthenias 		disease 0.100 None 0 1
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C1277241
Disease: Delayed myelination
Delayed myelination 		phenotype 0.100 None 0 0
Entrez Id: 6576
Gene Symbol: SLC25A1
SLC25A1 		solute carrier family 25 member 1 0.553 0.731 5.9E-02
CUI: C1445953
Disease: Poor eye contact
Poor eye contact 		phenotype 0.100 None 0 0