Source: ALL

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: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia
disease 0.100 None 0 0
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
tyrosyl-DNA phosphodiesterase 1 0.612 0.538 1.3E-17
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness
phenotype 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0311394
Disease: Difficulty walking
Difficulty walking
phenotype 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum
disease 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia
disease 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0427144
Disease: Toe-walking gait
Toe-walking gait
phenotype 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease 0.100 None 0 0
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
tyrosyl-DNA phosphodiesterase 1 0.612 0.538 1.3E-17
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
disease 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0234985
Disease: Mental deterioration
Mental deterioration
phenotype 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0233565
Disease: Bradykinesia
Bradykinesia
phenotype 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0027746
Disease: Nerve Degeneration
Nerve Degeneration
phenotype 0.100 None 0 0
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
CUI: C0151526
Disease: Premature Birth
Premature Birth
phenotype 0.100 None 0 0
Entrez Id: 285203
Gene Symbol: EOGT
EOGT
EGF domain specific O-linked N-acetylglucosamine transferase 0.641 0.500 5.0E-09
CUI: C0086543
Disease: Cataract
Cataract
disease 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic
phenotype 0.100 None 0 0
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
tyrosyl-DNA phosphodiesterase 1 0.612 0.538 1.3E-17
CUI: C4021585
Disease: Impaired distal proprioception
Impaired distal proprioception
phenotype 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0151888
Disease: Hyporeflexia
Hyporeflexia
phenotype 0.100 None 0 0
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
tyrosyl-DNA phosphodiesterase 1 0.612 0.538 1.3E-17
CUI: C1866751
Disease: Spinocerebellar tract degeneration
Spinocerebellar tract degeneration
disease 0.100 None 0 0
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
tyrosyl-DNA phosphodiesterase 1 0.612 0.538 1.3E-17
Impaired vibration sensation in the lower limbs
phenotype 0.100 None 0 0
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
tyrosyl-DNA phosphodiesterase 1 0.612 0.538 1.3E-17
CUI: C1848736
Disease: Distal amyotrophy
Distal amyotrophy
disease 0.100 None 0 0
Entrez Id: 55775
Gene Symbol: TDP1
TDP1
tyrosyl-DNA phosphodiesterase 1 0.612 0.538 1.3E-17
CUI: C1847584
Disease: Distal sensory impairment
Distal sensory impairment
phenotype 0.100 None 0 0
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0600104
Disease: Obsessive compulsive behavior
Obsessive compulsive behavior
disease 0.100 None 0 0
Entrez Id: 55777
Gene Symbol: MBD5
MBD5
methyl-CpG binding domain protein 5 0.581 0.808 1.00
CUI: C1843108
Disease: Short palm
Short palm
phenotype 0.100 None 0 0