Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7343
Gene Symbol: UBTF
UBTF
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.400 CausalMutation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.130 CausalMutation CLINVAR

Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.110 GeneticVariation CLINVAR

Entrez Id: 80155
Gene Symbol: NAA15
NAA15
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR

Entrez Id: 5728
Gene Symbol: PTEN
PTEN
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR

Entrez Id: 1200
Gene Symbol: TPP1
TPP1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 26053
Gene Symbol: AUTS2
AUTS2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 79152
Gene Symbol: FA2H
FA2H
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR

Entrez Id: 5530
Gene Symbol: PPP3CA
PPP3CA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR

Entrez Id: 2629
Gene Symbol: GBA
GBA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 54982
Gene Symbol: CLN6
CLN6
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR

Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 79158
Gene Symbol: GNPTAB
GNPTAB
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 64135
Gene Symbol: IFIH1
IFIH1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR

Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR

Entrez Id: 137682
Gene Symbol: NDUFAF6
NDUFAF6
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 1892
Gene Symbol: ECHS1
ECHS1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR

Entrez Id: 2581
Gene Symbol: GALC
GALC
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR

Entrez Id: 2033
Gene Symbol: EP300
EP300
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR