rs398122968, TBC1D24

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Abnormality of brain morphology
CUI: C4021085
Disease: Abnormality of brain morphology
0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
Abnormality of the skull
CUI: C0235942
Disease: Abnormality of the skull
0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
Triphalangeal thumb
CUI: C0241397
Disease: Triphalangeal thumb
0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Nail abnormality
CUI: C0853087
Disease: Nail abnormality
0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Digitorenocerebral Syndrome
CUI: C0795934
Disease: Digitorenocerebral Syndrome
0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Sensorineural hearing loss, bilateral
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Sensorineural hearing loss, bilateral
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Triphalangeal thumb
CUI: C0241397
Disease: Triphalangeal thumb
0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
Abnormality of digit
CUI: C3550704
Disease: Abnormality of digit
0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
Digitorenocerebral Syndrome
CUI: C0795934
Disease: Digitorenocerebral Syndrome
0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
Abnormality of digit
CUI: C3550704
Disease: Abnormality of digit
0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014
Nail abnormality
CUI: C0853087
Disease: Nail abnormality
0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Abnormality of the skull
CUI: C0235942
Disease: Abnormality of the skull
0.700 CausalMutation CLINVAR DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. 25169651 2014
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 CausalMutation CLINVAR The genetic basis of DOORS syndrome: an exome-sequencing study. 24291220 2014