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: 22
Gene Symbol: ABCB7
ABCB7 		0.100 Biomarker disease HPO
Entrez Id: 6833
Gene Symbol: ABCC8
ABCC8 		0.100 Biomarker disease HPO
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: 2182
Gene Symbol: ACSL4
ACSL4 		0.100 Biomarker disease HPO
Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B 		0.100 GeneticVariation disease CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736 2019
Entrez Id: 113179
Gene Symbol: ADAT3
ADAT3 		0.110 Biomarker disease BEFREE ADAT3-related intellectual disability has been recently described in 24 individuals from eight Saudi families who had cognitive impairment and strabismus. 26842963 2016
Entrez Id: 113179
Gene Symbol: ADAT3
ADAT3 		0.110 GeneticVariation disease CLINVAR
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1 		0.100 CausalMutation disease CLINVAR
Entrez Id: 23394
Gene Symbol: ADNP
ADNP 		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: 55750
Gene Symbol: AGK
AGK 		0.100 Biomarker disease HPO
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1 		0.100 Biomarker disease HPO
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		0.110 GeneticVariation disease BEFREE Therefore, we concluded that AHI1 c.3257A>G and NEB c.914 A>G were potential causal variants in this strabismus pedigree. 28391287 2017
Entrez Id: 54806
Gene Symbol: AHI1
AHI1 		0.110 Biomarker disease HPO
Entrez Id: 207
Gene Symbol: AKT1
AKT1 		0.100 Biomarker disease HPO
Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1 		0.100 Biomarker disease HPO
Entrez Id: 7915
Gene Symbol: ALDH5A1
ALDH5A1 		0.010 GeneticVariation disease BEFREE Variation in ALDH5A1 is likely to contribute to degree of horizontal phoria. 24327614 2014
Entrez Id: 501
Gene Symbol: ALDH7A1
ALDH7A1 		0.100 Biomarker disease HPO
Entrez Id: 440138
Gene Symbol: ALG11
ALG11 		0.100 Biomarker disease HPO
Entrez Id: 10195
Gene Symbol: ALG3
ALG3 		0.100 Biomarker disease HPO
Entrez Id: 29929
Gene Symbol: ALG6
ALG6 		0.100 Biomarker disease HPO