OBSL1, obscurin like cytoskeletal adaptor 1, 23363

N. diseases: 64; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 GeneticVariation disease CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 GeneticVariation disease CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
CUI: C0426789
Disease: Short thorax
Short thorax 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
CUI: C0521525
Disease: Short neck
Short neck 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
CUI: C1833144
Disease: Slender long bone
Slender long bone 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
CUI: C1835884
Disease: Triangular face
Triangular face 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.100 GeneticVariation disease CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		0.100 GeneticVariation phenotype CLINVAR Further expanding the mutational spectrum and investigation of genotype-phenotype correlation in 3M syndrome. 30980518 2019
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation 		0.100 Biomarker phenotype HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 Biomarker phenotype HPO
CUI: C0024003
Disease: Lordosis
Lordosis 		0.100 Biomarker phenotype HPO
CUI: C0024636
Disease: Malocclusion
Malocclusion 		0.100 Biomarker disease HPO
CUI: C0025995
Disease: Micromelia
Micromelia 		0.100 Biomarker disease HPO
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 Biomarker disease HPO
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.100 Biomarker disease HPO
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		0.100 Biomarker phenotype HPO
CUI: C0239174
Disease: Late tooth eruption
Late tooth eruption 		0.100 Biomarker phenotype HPO
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		0.100 Biomarker phenotype HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO