Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6659
Gene Symbol: SOX4
SOX4
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.400 GeneticVariation CLINVAR De Novo SOX4 Variants Cause a Neurodevelopmental Disease Associated with Mild Dysmorphism. 30661772

2019
Entrez Id: 23363
Gene Symbol: OBSL1
OBSL1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 GeneticVariation CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518

2019
Entrez Id: 25942
Gene Symbol: SIN3A
SIN3A
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR Novel SIN3A mutation identified in a Japanese patient with Witteveen-Kolk syndrome. 30267900

2019
Entrez Id: 5898
Gene Symbol: RALA
RALA
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay. 30500825

2018
Entrez Id: 253738
Gene Symbol: EBF3
EBF3
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. 28017372

2017
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113

2017
Entrez Id: 2186
Gene Symbol: BPTF
BPTF
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		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: 8621
Gene Symbol: CDK13
CDK13
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 GeneticVariation CLINVAR Phenotypic and molecular characterisation of CDK13-related congenital heart defects, dysmorphic facial features and intellectual developmental disorders. 28807008

2017
Entrez Id: 7994
Gene Symbol: KAT6A
KAT6A
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 25728777

2015
Entrez Id: 4297
Gene Symbol: KMT2A
KMT2A
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR

Entrez Id: 1756
Gene Symbol: DMD
DMD
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 GeneticVariation CLINVAR

Entrez Id: 112939
Gene Symbol: NACC1
NACC1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR

Entrez Id: 29123
Gene Symbol: ANKRD11
ANKRD11
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 GeneticVariation CLINVAR

Entrez Id: 5727
Gene Symbol: PTCH1
PTCH1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR

Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR

Entrez Id: 5888
Gene Symbol: RAD51
RAD51
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 GeneticVariation CLINVAR

Entrez Id: 2776
Gene Symbol: GNAQ
GNAQ
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR

Entrez Id: 79728
Gene Symbol: PALB2
PALB2
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR

Entrez Id: 9990
Gene Symbol: SLC12A6
SLC12A6
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 GeneticVariation CLINVAR

Entrez Id: 7021
Gene Symbol: TFAP2B
TFAP2B
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR

Entrez Id: 55869
Gene Symbol: HDAC8
HDAC8
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 GeneticVariation CLINVAR

Entrez Id: 2517
Gene Symbol: FUCA1
FUCA1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR

Entrez Id: 1859
Gene Symbol: DYRK1A
DYRK1A
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR

Entrez Id: 10075
Gene Symbol: HUWE1
HUWE1
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 GeneticVariation CLINVAR

Entrez Id: 23314
Gene Symbol: SATB2
SATB2
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 CausalMutation CLINVAR