Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C4539857
Disease:
CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0578038
Disease:
Thin lips 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C4317152
Disease:
Dimple chin 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0152421
Disease:
Macrotia 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1856121
Disease:
Broad eyebrow 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0025990
Disease:
Micrognathism 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0152021
Disease:
Congenital heart disease 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0423757
Disease:
Thin skin 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C4023165
Disease:
Abnormality of skeletal morphology 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0349588
Disease:
Short stature 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1850049
Disease:
Clinodactyly of the 5th finger 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0026034
Disease:
Microstomia 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C4551563
Disease:
Microcephaly (physical finding) 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0231246
Disease:
Failure to gain weight 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0032326
Disease:
Pneumothorax 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0221354
Disease:
Frontal bossing 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0263401
Disease:
Cutis marmorata 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0333068
Disease:
Flexion contracture 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0010417
Disease:
Cryptorchidism 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C4551570
Disease:
2-3 toe syndactyly 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0423109
Disease:
Upward slant of palpebral fissure 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1866806
Disease:
Unilateral ptosis 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0018817
Disease:
Atrial Septal Defects 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C1386048
Disease:
Intrauterine retardation 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017
dbSNP: rs1060499548
rs1060499548
Entrez Id: 25
Gene Symbol: ABL1
ABL1
CUI: C0235833
Disease:
Congenital diaphragmatic hernia 		A 0.700 CausalMutation CLINVAR Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. 28288113 2017