Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		0.100 CausalMutation CLINVAR

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		0.100 CausalMutation CLINVAR

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C1260926
Disease: Abnormal pigmentation
Abnormal pigmentation 		0.100 CausalMutation CLINVAR

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C1859236
Disease: Prolonged neonatal jaundice
Prolonged neonatal jaundice 		0.100 CausalMutation CLINVAR

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C4012597
Disease: ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE
ALACRIMA, CONGENITAL, AUTOSOMAL RECESSIVE 		0.100 CausalMutation CLINVAR

Entrez Id: 8086
Gene Symbol: AAAS
AAAS
CUI: C4551650
Disease: Esophageal Stricture
Esophageal Stricture 		0.100 CausalMutation CLINVAR

Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
CUI: C1835662
Disease: Keratosis palmoplantaris papulosa
Keratosis palmoplantaris papulosa 		0.720 CausalMutation CLINVAR

Entrez Id: 79719
Gene Symbol: AAGAB
AAGAB
CUI: C4551675
Disease: Keratoderma, Palmoplantar
Keratoderma, Palmoplantar 		0.620 GeneticVariation CLINVAR

Entrez Id: 25980
Gene Symbol: AAR2
AAR2
CUI: C0016522
Disease: Foramen Ovale, Patent
Foramen Ovale, Patent 		0.100 GeneticVariation CLINVAR

Entrez Id: 25980
Gene Symbol: AAR2
AAR2
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 GeneticVariation CLINVAR

Entrez Id: 25980
Gene Symbol: AAR2
AAR2
CUI: C0332573
Disease: Macule
Macule 		0.100 GeneticVariation CLINVAR

Entrez Id: 25980
Gene Symbol: AAR2
AAR2
CUI: C0344482
Disease: Hypoplasia of corpus callosum
Hypoplasia of corpus callosum 		0.100 GeneticVariation CLINVAR

Entrez Id: 25980
Gene Symbol: AAR2
AAR2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 25980
Gene Symbol: AAR2
AAR2
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		0.100 GeneticVariation CLINVAR

Entrez Id: 25980
Gene Symbol: AAR2
AAR2
CUI: C4025708
Disease: Cerebellar malformation
Cerebellar malformation 		0.100 GeneticVariation CLINVAR

Entrez Id: 25980
Gene Symbol: AAR2
AAR2
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation CLINVAR

Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 CausalMutation CLINVAR A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. 20045102

2010
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 GeneticVariation CLINVAR

Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C2750090
Disease: Charcot-Marie-Tooth Disease, Axonal, Type 2n
Charcot-Marie-Tooth Disease, Axonal, Type 2n 		0.710 CausalMutation CLINVAR Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy. 26257172

2015
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 GeneticVariation CLINVAR

Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C4225361
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 		0.700 CausalMutation CLINVAR

Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C0007959
Disease: Charcot-Marie-Tooth Disease
Charcot-Marie-Tooth Disease 		0.160 CausalMutation CLINVAR

Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.110 CausalMutation CLINVAR A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot-Marie-Tooth disease. 20045102

2010
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.110 CausalMutation CLINVAR Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities. 30124830

2018
Entrez Id: 16
Gene Symbol: AARS1
AARS1
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.110 CausalMutation CLINVAR A recurrent loss-of-function alanyl-tRNA synthetase (AARS) mutation in patients with Charcot-Marie-Tooth disease type 2N (CMT2N). 22009580

2012