Source: INFERRED ×
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: C2673361
Disease: Increased serum beta-hexosaminidase
Increased serum beta-hexosaminidase 		2 0 2 1.00 0 0
CUI: C4025599
Disease: Increased serum iduronate sulfatase activity
Increased serum iduronate sulfatase activity 		2 0 2 1.00 0 0
CUI: C0026697
Disease: Mucolipidoses
Mucolipidoses 		3 8 2 0.67 5 3.7E-02
CUI: C0020725
Disease: Type II Mucolipidosis
Type II Mucolipidosis 		1 0 1 0.50 0 0
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy 		1 86 1 0.50 71 0.48
CUI: C0036310
Disease: Scheuermann's Disease
Scheuermann's Disease 		1 1 1 0.50 1 7.5E-03
CUI: C1854896
Disease: Mucolipidosis III Gamma
Mucolipidosis III Gamma 		1 0 1 0.50 0 0
CUI: C1854934
Disease: Progressive alveolar ridge hypertropy
Progressive alveolar ridge hypertropy 		1 0 1 0.50 0 0
CUI: C1854940
Disease: Lower thoracic interpediculate narrowness
Lower thoracic interpediculate narrowness 		1 0 1 0.50 0 0
CUI: C1854941
Disease: Beaking of vertebral bodies T12-L3
Beaking of vertebral bodies T12-L3 		1 0 1 0.50 0 0
CUI: C1854948
Disease: Varus deformity of humeral neck
Varus deformity of humeral neck 		1 0 1 0.50 0 0
CUI: C1854952
Disease: Bullet-shaped phalanges of the hand
Bullet-shaped phalanges of the hand 		1 0 1 0.50 0 0
CUI: C2673375
Disease: Mucolipidosis III Alpha Beta, Atypical
Mucolipidosis III Alpha Beta, Atypical 		1 1 1 0.50 1 7.5E-03
CUI: C4025256
Disease: Arthralgia/arthritis
Arthralgia/arthritis 		1 4 1 0.50 4 3.0E-02
CUI: C0265985
Disease: Mongolian Spot
Mongolian Spot 		2 3 1 0.33 2 1.5E-02
CUI: C1854913
Disease: Soft tissue swelling of interphalangeal joints
Soft tissue swelling of interphalangeal joints 		2 0 1 0.33 0 0
CUI: C0037928
Disease: Spinal Cord Diseases
Spinal Cord Diseases 		3 0 1 0.25 0 0
CUI: C1843677
Disease: Large sella turcica
Large sella turcica 		3 0 1 0.25 0 0
CUI: C4021805
Disease: Abnormality of the nasal bridge
Abnormality of the nasal bridge 		3 2 1 0.25 1 7.5E-03
CUI: C4022810
Disease: Abnormality of nervous system morphology
Abnormality of nervous system morphology 		3 0 1 0.25 0 0
CUI: C4025401
Disease: Irregular carpal bones
Irregular carpal bones 		3 0 1 0.25 0 0
CUI: C0342546
Disease: Premature adrenarche
Premature adrenarche 		6 5 1 0.14 1 7.3E-03
CUI: C1859335
Disease: Thoracolumbar kyphoscoliosis
Thoracolumbar kyphoscoliosis 		6 0 1 0.14 0 0
CUI: C4025763
Disease: Abnormality of the rib cage
Abnormality of the rib cage 		16 0 2 0.12 0 0
CUI: C1854910
Disease: Shallow acetabular fossae
Shallow acetabular fossae 		8 0 1 0.11 0 0