Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 154881
Gene Symbol: KCTD7
KCTD7
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.110 GeneticVariation 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: 2629
Gene Symbol: GBA
GBA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. 24785942

2014
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: 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: 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: 6334
Gene Symbol: SCN8A
SCN8A
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 166378
Gene Symbol: SPATA5
SPATA5
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype. 28940898

2017
Entrez Id: 8621
Gene Symbol: CDK13
CDK13
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
Entrez Id: 64207
Gene Symbol: IRF2BPL
IRF2BPL
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 2639
Gene Symbol: GCDH
GCDH
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

Entrez Id: 1615
Gene Symbol: DARS1
DARS1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 GeneticVariation CLINVAR

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

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