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: C0920299
Disease: Overriding toe
Overriding toe 		0.100 GeneticVariation CLINVAR Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. 28942966

2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.100 GeneticVariation CLINVAR Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants. 28213671

2017
Entrez Id: 10522
Gene Symbol: DEAF1
DEAF1
CUI: C0920299
Disease: Overriding toe
Overriding toe 		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: 79053
Gene Symbol: ALG8
ALG8
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.100 CausalMutation CLINVAR

Entrez Id: 3796
Gene Symbol: KIF2A
KIF2A
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.100 GeneticVariation CLINVAR

Entrez Id: 7874
Gene Symbol: USP7
USP7
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.100 GeneticVariation CLINVAR

Entrez Id: 93627
Gene Symbol: TBCK
TBCK
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.100 CausalMutation CLINVAR

Entrez Id: 27292
Gene Symbol: DIMT1
DIMT1
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.100 GeneticVariation CLINVAR

Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.100 GeneticVariation CLINVAR

Entrez Id: 22880
Gene Symbol: MORC2
MORC2
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.100 GeneticVariation CLINVAR

Entrez Id: 54551
Gene Symbol: MAGEL2
MAGEL2
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.100 CausalMutation CLINVAR

Entrez Id: 23036
Gene Symbol: ZNF292
ZNF292
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.100 GeneticVariation CLINVAR

Entrez Id: 9772
Gene Symbol: TMEM94
TMEM94
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.100 CausalMutation CLINVAR

Entrez Id: 4853
Gene Symbol: NOTCH2
NOTCH2
CUI: C0920299
Disease: Overriding toe
Overriding toe 		0.100 CausalMutation CLINVAR