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: C4021581
Disease: Distal upper limb amyotrophy
Distal upper limb amyotrophy
8 0 1 1.5E-04 0 0
Fatigable weakness of skeletal muscles
8 0 1 1.5E-04 0 0
CUI: C0005833
Disease: Blood Sedimentation
Blood Sedimentation
7 0 1 1.5E-04 0 0
CUI: C0175692
Disease: Johanson-Blizzard syndrome
Johanson-Blizzard syndrome
7 0 1 1.5E-04 0 0
CUI: C0234398
Disease: Visual Cortex Disorder
Visual Cortex Disorder
7 0 1 1.5E-04 0 0
Deficiency of aromatic-L-amino-acid decarboxylase
7 0 1 1.5E-04 0 0
CUI: C1332140
Disease: Acrofacial Dysostosis
Acrofacial Dysostosis
7 0 1 1.5E-04 0 0
CUI: C1836876
Disease: Pierson syndrome
Pierson syndrome
7 0 1 1.5E-04 0 0
CUI: C1838701
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 2
DEAFNESS, AUTOSOMAL RECESSIVE 2
7 0 1 1.5E-04 0 0
CUI: C1848556
Disease: Decreased adenosylcobalamin
Decreased adenosylcobalamin
7 0 1 1.5E-04 0 0
Erlenmeyer flask deformity of the femurs
7 0 1 1.5E-04 0 0
Hyperphosphatasia with Mental Retardation
7 0 1 1.5E-04 0 0
CUI: C1864715
Disease: Thenar muscle atrophy
Thenar muscle atrophy
7 0 1 1.5E-04 0 0
CUI: C2242456
Disease: thyroid function
thyroid function
7 0 1 1.5E-04 0 0
CUI: C2697765
Disease: Interleukin 17 Measurement
Interleukin 17 Measurement
7 0 1 1.5E-04 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2
7 0 1 1.5E-04 0 0
EARLY REPOLARIZATION ASSOCIATED WITH VENTRICULAR FIBRILLATION
7 0 1 1.5E-04 0 0
CUI: C3151085
Disease: MASP2 Deficiency
MASP2 Deficiency
7 0 1 1.5E-04 0 0
CUI: C3665342
Disease: Progressive Cone Dystrophy
Progressive Cone Dystrophy
7 0 1 1.5E-04 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
7 0 1 1.5E-04 0 0
Elongated superior cerebellar peduncle
7 0 1 1.5E-04 0 0
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
7 0 1 1.5E-04 0 0
CUI: C4021094
Disease: Type II transferrin isoform profile
Type II transferrin isoform profile
7 0 1 1.5E-04 0 0
CUI: C4022771
Disease: Decreased thalamic volume
Decreased thalamic volume
7 0 1 1.5E-04 0 0
CUI: C4317093
Disease: Reduced factor XI activity
Reduced factor XI activity
7 0 1 1.5E-04 0 0