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: C1854783
Disease: Grayish enamel
Grayish enamel
2 0 2 0.67 0 0
CUI: C1854785
Disease: Constricted iliac wings
Constricted iliac wings
2 0 2 0.67 0 0
Epiphyseal deformities of tubular bones
2 0 2 0.67 0 0
Pointed proximal second through fifth metacarpals
2 0 2 0.67 0 0
CUI: C3179194
Disease: GALNS Deficiency
GALNS Deficiency
3 0 2 0.50 0 0
CUI: C4023060
Disease: Keratan sulfate excretion in urine
Keratan sulfate excretion in urine
3 0 2 0.50 0 0
CUI: C0086652
Disease: Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type IVB
4 0 2 0.40 0 0
CUI: C1854780
Disease: Flaring of rib cage
Flaring of rib cage
4 0 2 0.40 0 0
CUI: C0332885
Disease: Congenital stenosis
Congenital stenosis
1 0 1 0.33 0 0
CUI: C0521527
Disease: Shortened trunk
Shortened trunk
1 0 1 0.33 0 0
CUI: C0860475
Disease: Lactose intolerant
Lactose intolerant
1 0 1 0.33 0 0
CUI: C0877313
Disease: Neonatal neuroblastoma
Neonatal neuroblastoma
1 0 1 0.33 0 0
Cutaneous Lymphomatoid Granulomatosis
1 0 1 0.33 0 0
METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
1 0 1 0.33 0 0
CUI: C1855205
Disease: Susceptibility to chickenpox
Susceptibility to chickenpox
1 0 1 0.33 0 0
Intimal thickening in the coronary arteries
1 0 1 0.33 0 0
Gangliosidosis, Generalized GM1, Type I, with Cardiac Involvement
1 0 1 0.33 0 0
CUI: C2017869
Disease: sparse facial hair
sparse facial hair
1 0 1 0.33 0 0
CUI: C2874285
Disease: Mucolipidosis II [I-cell disease]
Mucolipidosis II [I-cell disease]
1 0 1 0.33 0 0
Chondroitin sulfate excretion in urine
1 0 1 0.33 0 0
CUI: C4280737
Disease: Large elbow
Large elbow
1 0 1 0.33 0 0
CUI: C4551965
Disease: ANAUXETIC DYSPLASIA 1
ANAUXETIC DYSPLASIA 1
1 0 1 0.33 0 0
CUI: C2718068
Disease: beta-Galactosidase Deficiency
beta-Galactosidase Deficiency
6 0 2 0.29 0 0
Late-Onset Globoid Cell Leukodystrophy
2 0 1 0.25 0 0
Gangliosidosis, Generalized GM1, Type 1 (disorder)
2 0 1 0.25 0 0