Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
1 0 1 0.50 0 0
CUI: C2827432
Disease: Bile Acid Synthesis Defect
Bile Acid Synthesis Defect
1 0 1 0.50 0 0
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
1 0 1 0.50 0 0
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
1 0 1 0.50 0 0
Congenital bile acid synthesis defect type 3
1 0 1 0.50 0 0
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome
2 0 1 0.33 0 0
CUI: C0392477
Disease: Congenital flat foot
Congenital flat foot
2 0 1 0.33 0 0
CUI: C1112321
Disease: Congenital cutis laxa
Congenital cutis laxa
2 0 1 0.33 0 0
Cutis Laxa, Autosomal Recessive, Type IIB
2 0 1 0.33 0 0
Bile Acid Synthesis Defect, Congenital, 3
2 1 1 0.33 1 6.2E-02
Abnormality of the dorsal column of the spinal cord
2 0 1 0.33 0 0
CUI: C4476943
Disease: Impaired continence
Impaired continence
2 0 1 0.33 0 0
CUI: C0268350
Disease: Cutis Laxa, Autosomal Dominant
Cutis Laxa, Autosomal Dominant
3 0 1 0.25 0 0
CUI: C1859162
Disease: Neonatal cholestatic liver disease
Neonatal cholestatic liver disease
3 0 1 0.25 0 0
Atrophy of quadriceps femoris muscle
3 0 1 0.25 0 0
CUI: C0264133
Disease: Acquired flat foot
Acquired flat foot
4 0 1 0.20 0 0
Dysfunction of lateral corticospinal tracts
4 0 1 0.20 0 0
CUI: C1848771
Disease: Prominent superficial blood vessels
Prominent superficial blood vessels
4 0 1 0.20 0 0
CUI: C0232720
Disease: Pale feces (finding)
Pale feces (finding)
5 0 1 0.17 0 0
X-Linked, Spastic Paraplegia, Hereditary
5 0 1 0.17 0 0
CUI: C1395674
Disease: Bowel diverticulosis
Bowel diverticulosis
5 0 1 0.17 0 0
CUI: C3151088
Disease: IMMUNODEFICIENCY 31B
IMMUNODEFICIENCY 31B
5 0 1 0.17 0 0
CUI: C1389102
Disease: Atrophy of the spinal cord
Atrophy of the spinal cord
13 0 2 0.15 0 0
Spastic paraplegia type 5A, recessive
13 0 2 0.15 0 0
CUI: C0042023
Disease: Increased frequency of micturition
Increased frequency of micturition
6 0 1 0.14 0 0