Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4479452
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.700 CausalMutation disease CLINVAR
CUI: C4479452
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.700 Biomarker disease CTD_human
CUI: C4479452
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES 		0.700 GeneticVariation disease CLINVAR
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.120 GeneticVariation disease CLINVAR
CUI: C0265294
Disease: Pyle metaphyseal dysplasia
Pyle metaphyseal dysplasia 		0.110 Biomarker disease HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 GeneticVariation disease CLINVAR
CUI: C0014457
Disease: Eosinophilia
Eosinophilia 		0.100 Biomarker disease HPO
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0024312
Disease: Lymphopenia
Lymphopenia 		0.100 Biomarker disease HPO
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		0.100 Biomarker disease HPO
CUI: C0239137
Disease: Coxa valga
Coxa valga 		0.100 Biomarker phenotype HPO
CUI: C0239998
Disease: Recurrent infections
Recurrent infections 		0.100 Biomarker phenotype HPO
CUI: C0265563
Disease: Congenital dislocation of radial head
Congenital dislocation of radial head 		0.100 Biomarker disease HPO
CUI: C0345392
Disease: Congenital kyphoscoliosis
Congenital kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		0.100 Biomarker disease HPO
CUI: C0424731
Disease: Single transverse palmar crease
Single transverse palmar crease 		0.100 Biomarker phenotype HPO
CUI: C0426415
Disease: Large nose
Large nose 		0.100 Biomarker phenotype HPO
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		0.100 Biomarker phenotype HPO
CUI: C0520947
Disease: Clumsiness - motor delay
Clumsiness - motor delay 		0.100 Biomarker disease HPO
CUI: C0566888
Disease: Narrow sacrosciatic notch
Narrow sacrosciatic notch 		0.100 Biomarker phenotype HPO
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		0.100 Biomarker disease HPO
CUI: C0600033
Disease: Acquired Kyphoscoliosis
Acquired Kyphoscoliosis 		0.100 Biomarker disease HPO
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.100 Biomarker phenotype HPO
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		0.100 Biomarker phenotype HPO