Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
Entrez Id: 2475
Gene Symbol: MTOR
MTOR
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. 27159400

2016
Entrez Id: 25880
Gene Symbol: TMEM186
TMEM186
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
Entrez Id: 18
Gene Symbol: ABAT
ABAT
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR A new case of GABA transaminase deficiency facilitated by proton MR spectroscopy. 20052547

2010
Entrez Id: 51091
Gene Symbol: SEPSECS
SEPSECS
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 1476
Gene Symbol: CSTB
CSTB
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 5915
Gene Symbol: RARB
RARB
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 5190
Gene Symbol: PEX6
PEX6
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 4204
Gene Symbol: MECP2
MECP2
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 29781
Gene Symbol: NCAPH2
NCAPH2
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 3020
Gene Symbol: H3-3A
H3-3A
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 57148
Gene Symbol: RALGAPB
RALGAPB
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 4604
Gene Symbol: MYBPC1
MYBPC1
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 51133
Gene Symbol: KCTD3
KCTD3
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 56052
Gene Symbol: ALG1
ALG1
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 GeneticVariation CLINVAR

Entrez Id: 23126
Gene Symbol: POGZ
POGZ
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 55823
Gene Symbol: VPS11
VPS11
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 54872
Gene Symbol: PIGG
PIGG
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR

Entrez Id: 5351
Gene Symbol: PLOD1
PLOD1
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.100 CausalMutation CLINVAR