Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 25980
Gene Symbol: AAR2
AAR2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 368
Gene Symbol: ABCC6
ABCC6
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 50
Gene Symbol: ACO2
ACO2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 CausalMutation CLINVAR

Entrez Id: 51412
Gene Symbol: ACTL6B
ACTL6B
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.410 GeneticVariation CLINVAR Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination. 31134736

2019
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 23394
Gene Symbol: ADNP
ADNP
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 3899
Gene Symbol: AFF3
AFF3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 27245
Gene Symbol: AHDC1
AHDC1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 CausalMutation CLINVAR De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 24791903

2014
Entrez Id: 54806
Gene Symbol: AHI1
AHI1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation CLINVAR

Entrez Id: 10000
Gene Symbol: AKT3
AKT3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 5832
Gene Symbol: ALDH18A1
ALDH18A1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation CLINVAR De novo mutations in epileptic encephalopathies. 23934111

2013
Entrez Id: 79868
Gene Symbol: ALG13
ALG13
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 10195
Gene Symbol: ALG3
ALG3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 10195
Gene Symbol: ALG3
ALG3
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 7840
Gene Symbol: ALMS1
ALMS1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 9949
Gene Symbol: AMMECR1
AMMECR1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 CausalMutation CLINVAR

Entrez Id: 271
Gene Symbol: AMPD2
AMPD2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 GeneticVariation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.130 CausalMutation CLINVAR

Entrez Id: 10564
Gene Symbol: ARFGEF2
ARFGEF2
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation CLINVAR

Entrez Id: 8289
Gene Symbol: ARID1A
ARID1A
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation CLINVAR