Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 144568
Gene Symbol: A2ML1
A2ML1 		0.100 Biomarker disease HPO
Entrez Id: 16
Gene Symbol: AARS1
AARS1 		0.100 Biomarker disease HPO
Entrez Id: 57505
Gene Symbol: AARS2
AARS2 		0.100 Biomarker disease HPO
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.100 Biomarker disease HPO
Entrez Id: 22
Gene Symbol: ABCB7
ABCB7 		0.100 Biomarker disease HPO
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		0.400 Biomarker disease HPO
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		0.400 Biomarker disease GENOMICS_ENGLAND Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration. 24697911 2014
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		0.400 CausalMutation disease CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018
Entrez Id: 51099
Gene Symbol: ABHD5
ABHD5 		0.100 Biomarker disease HPO
Entrez Id: 50
Gene Symbol: ACO2
ACO2 		0.100 Biomarker disease HPO
Entrez Id: 51
Gene Symbol: ACOX1
ACOX1 		0.100 Biomarker disease HPO
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		0.100 Biomarker disease HPO
Entrez Id: 54507
Gene Symbol: ADAMTSL4
ADAMTSL4 		0.100 Biomarker disease HPO
Entrez Id: 103
Gene Symbol: ADAR
ADAR 		0.100 Biomarker disease HPO
Entrez Id: 120
Gene Symbol: ADD3
ADD3 		0.100 Biomarker disease HPO
Entrez Id: 576
Gene Symbol: ADGRB2
ADGRB2 		0.100 GeneticVariation disease CLINVAR A disease-associated mutation in the adhesion GPCR BAI2 (ADGRB2) increases receptor signaling activity. 28891236 2017
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1 		0.100 Biomarker disease HPO
Entrez Id: 84059
Gene Symbol: ADGRV1
ADGRV1 		0.100 Biomarker disease HPO
Entrez Id: 54936
Gene Symbol: ADPRS
ADPRS 		0.100 Biomarker disease HPO
Entrez Id: 158
Gene Symbol: ADSL
ADSL 		0.100 Biomarker disease HPO
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		0.110 Biomarker disease BEFREE Clinical features of SCA28 include slow to moderate progressive ataxia, dysarthria, and additional symptoms such as nystagmus, slow saccades, and increased deep tendon reflexes. 24293060 2014
Entrez Id: 10939
Gene Symbol: AFG3L2
AFG3L2 		0.110 Biomarker disease HPO
Entrez Id: 60509
Gene Symbol: AGBL5
AGBL5 		0.100 Biomarker disease HPO
Entrez Id: 55750
Gene Symbol: AGK
AGK 		0.100 Biomarker disease HPO
Entrez Id: 375790
Gene Symbol: AGRN
AGRN 		0.100 Biomarker disease HPO