Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Renal Tubular Acidosis, Distal, With Normal Red Cell Morphology
1 0 1 7.7E-02 0 0
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
1 5 1 7.7E-02 3 0.50
CUI: C2675212
Disease: Spherocytosis, Type 4
Spherocytosis, Type 4
1 0 1 7.7E-02 0 0
Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
1 0 1 7.7E-02 0 0
Descending thoracic aortic dissection
1 0 1 7.7E-02 0 0
CUI: C2931588
Disease: GEMSS syndrome
GEMSS syndrome
1 0 1 7.7E-02 0 0
CUI: C3280054
Disease: GELEOPHYSIC DYSPLASIA 2
GELEOPHYSIC DYSPLASIA 2
1 0 1 7.7E-02 0 0
ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT
1 0 1 7.7E-02 0 0
Medial rotation of the medial malleolus
1 0 1 7.7E-02 0 0
CUI: C3810100
Disease: FANCONI RENOTUBULAR SYNDROME 3
FANCONI RENOTUBULAR SYNDROME 3
1 0 1 7.7E-02 0 0
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7
1 0 1 7.7E-02 0 0
RENAL TUBULAR ACIDOSIS, AUTOSOMAL DOMINANT
1 0 1 7.7E-02 0 0
CUI: C4015903
Disease: SWANN BLOOD GROUP ANTIGEN PHENOTYPE
SWANN BLOOD GROUP ANTIGEN PHENOTYPE
1 0 1 7.7E-02 0 0
CUI: C4015904
Disease: ACANTHOCYTOSIS DUE TO BAND 3 HT
ACANTHOCYTOSIS DUE TO BAND 3 HT
1 0 1 7.7E-02 0 0
CUI: C4016052
Disease: MARFAN SYNDROME, SEVERE CLASSIC
MARFAN SYNDROME, SEVERE CLASSIC
1 0 1 7.7E-02 0 0
CUI: C4016053
Disease: MARFAN SYNDROME, MILD VARIABLE
MARFAN SYNDROME, MILD VARIABLE
1 0 1 7.7E-02 0 0
CUI: C4016055
Disease: MARFAN SYNDROME, ATYPICAL
MARFAN SYNDROME, ATYPICAL
1 0 1 7.7E-02 0 0
CUI: C4016056
Disease: MARFAN SYNDROME, MILD
MARFAN SYNDROME, MILD
1 0 1 7.7E-02 0 0
MARFAN SYNDROME, AUTOSOMAL RECESSIVE
1 0 1 7.7E-02 0 0
CUI: C4022041
Disease: Hypoammonemia
Hypoammonemia
1 0 1 7.7E-02 0 0
CUI: C4022665
Disease: Isothenuria
Isothenuria
1 0 1 7.7E-02 0 0
CUI: C4022857
Disease: Reduced aldolase level
Reduced aldolase level
1 0 1 7.7E-02 0 0
CUI: C4023359
Disease: Abnormal maternal serum screening
Abnormal maternal serum screening
1 1 1 7.7E-02 1 0.25
CUI: C4024713
Disease: Transient aminoaciduria
Transient aminoaciduria
1 0 1 7.7E-02 0 0
CUI: C4024767
Disease: Dense posterior cortical cataract
Dense posterior cortical cataract
1 0 1 7.7E-02 0 0