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: 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: 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: 128989
Gene Symbol: TANGO2
TANGO2
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
Entrez Id: 2782
Gene Symbol: GNB1
GNB1
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 27108799

2016
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 CausalMutation CLINVAR Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease. 27896118

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR Burden of lysosomal storage disorders in India: experience of 387 affected children from a single diagnostic facility. 23852624

2014
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India. 22723944

2012
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease. 9150157

1997
Entrez Id: 3073
Gene Symbol: HEXA
HEXA
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 CausalMutation CLINVAR Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals. 1532289

1992
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