Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84294
Gene Symbol: UTP23
UTP23
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019
Entrez Id: 5885
Gene Symbol: RAD21
RAD21
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677

2019
Entrez Id: 80816
Gene Symbol: ASXL3
ASXL3
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 CausalMutation CLINVAR Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. 27075689

2016
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 CausalMutation CLINVAR Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 26350204

2015
Entrez Id: 57492
Gene Symbol: ARID1B
ARID1B
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 CausalMutation CLINVAR Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. 22426309

2012
Entrez Id: 546
Gene Symbol: ATRX
ATRX
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 GeneticVariation CLINVAR

Entrez Id: 6654
Gene Symbol: SOS1
SOS1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 CausalMutation CLINVAR

Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 CausalMutation CLINVAR

Entrez Id: 388650
Gene Symbol: DIPK1A
DIPK1A
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 CausalMutation CLINVAR

Entrez Id: 55975
Gene Symbol: KLHL7
KLHL7
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 GeneticVariation CLINVAR

Entrez Id: 1277
Gene Symbol: COL1A1
COL1A1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 CausalMutation CLINVAR

Entrez Id: 5781
Gene Symbol: PTPN11
PTPN11
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 CausalMutation CLINVAR

Entrez Id: 673
Gene Symbol: BRAF
BRAF
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 GeneticVariation CLINVAR

Entrez Id: 7862
Gene Symbol: BRPF1
BRPF1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 GeneticVariation CLINVAR

Entrez Id: 285175
Gene Symbol: UNC80
UNC80
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 GeneticVariation CLINVAR

Entrez Id: 5894
Gene Symbol: RAF1
RAF1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 CausalMutation CLINVAR

Entrez Id: 6125
Gene Symbol: RPL5
RPL5
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 CausalMutation CLINVAR

Entrez Id: 79659
Gene Symbol: DYNC2H1
DYNC2H1
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		0.100 CausalMutation CLINVAR