Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis 		57 21 33 0.41 12 0.17
CUI: C0343284
Disease: Chondrodysplasia
Chondrodysplasia 		71 0 15 0.13 0 0
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		40 7 11 0.13 2 2.9E-02
CUI: C0410538
Disease: Pseudoachondroplasia
Pseudoachondroplasia 		19 0 8 0.12 0 0
CUI: C1842153
Disease: Irregular vertebral endplates
Irregular vertebral endplates 		24 0 7 9.6E-02 0 0
CUI: C1846449
Disease: Irregular epiphyses
Irregular epiphyses 		15 0 6 9.2E-02 0 0
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		82 0 10 7.8E-02 0 0
CUI: C4024934
Disease: Cerebellar medulloblastoma
Cerebellar medulloblastoma 		13 0 5 7.8E-02 0 0
CUI: C0392476
Disease: Epiphyseal dysplasia
Epiphyseal dysplasia 		27 0 6 7.8E-02 0 0
CUI: C1854912
Disease: Short long bone
Short long bone 		42 0 7 7.7E-02 0 0
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		86 0 10 7.6E-02 0 0
CUI: C0948268
Disease: Hemodynamic instability
Hemodynamic instability 		15 0 5 7.6E-02 0 0
CUI: C1846803
Disease: Small epiphyses
Small epiphyses 		15 0 5 7.6E-02 0 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		31 0 6 7.4E-02 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 11 7.4E-02 0 0
CUI: C1301700
Disease: Cardiovascular morbidity
Cardiovascular morbidity 		75 0 9 7.4E-02 0 0
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		93 0 10 7.2E-02 0 0
CUI: C0472761
Disease: Homozygous alpha thalassemia
Homozygous alpha thalassemia 		19 0 5 7.1E-02 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		20 0 5 7.0E-02 0 0
CUI: C0265274
Disease: Achondrogenesis, type IB (disorder)
Achondrogenesis, type IB (disorder) 		5 34 4 7.0E-02 34 0.54
CUI: C0272002
Disease: alpha^0^ Thalassemia
alpha^0^ Thalassemia 		21 0 5 6.9E-02 0 0
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		37 0 6 6.9E-02 0 0
CUI: C0860197
Disease: Advanced chronic liver disease
Advanced chronic liver disease 		7 0 4 6.8E-02 0 0
CUI: C0275551
Disease: Primary bacterial peritonitis
Primary bacterial peritonitis 		39 0 6 6.7E-02 0 0
CUI: C4275242
Disease: Sudden sensorineural hearing loss
Sudden sensorineural hearing loss 		72 0 8 6.7E-02 0 0