Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Premature eruption of permanent teeth
1 0 1 0.50 0 0
CUI: C4024855
Disease: Lack of subcutaneous fatty tissue
Lack of subcutaneous fatty tissue
1 0 1 0.50 0 0
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2V
1 7 1 0.50 1 0.11
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
1 5 1 0.50 1 0.14
CUI: C1837733
Disease: Broad lateral eyebrow
Broad lateral eyebrow
2 0 1 0.33 0 0
Fifth finger distal phalanx clinodactyly
2 0 1 0.33 0 0
CUI: C1335411
Disease: Cyst of pineal gland
Cyst of pineal gland
3 0 1 0.25 0 0
CUI: C1844734
Disease: Hemihypotrophy of lower limb
Hemihypotrophy of lower limb
3 0 1 0.25 0 0
CUI: C1854834
Disease: Dense calvaria
Dense calvaria
3 0 1 0.25 0 0
Progressive conductive hearing impairment
3 0 1 0.25 0 0
CUI: C4023408
Disease: Abnormality of mouth size
Abnormality of mouth size
3 2 1 0.25 1 0.25
CUI: C0086650
Disease: MPS III D
MPS III D
4 0 1 0.20 0 0
CUI: C0262424
Disease: CNS DEGENERATION
CNS DEGENERATION
4 0 1 0.20 0 0
CUI: C0344541
Disease: Persistent pupillary membranes
Persistent pupillary membranes
4 2 1 0.20 1 0.25
CUI: C1851883
Disease: Small, conical teeth
Small, conical teeth
4 0 1 0.20 0 0
CUI: C1868556
Disease: Ovoid thoracolumbar vertebrae
Ovoid thoracolumbar vertebrae
4 0 1 0.20 0 0
Patent ductus arteriosus after birth at term
4 0 1 0.20 0 0
CUI: C0086649
Disease: MPS III C
MPS III C
6 0 1 0.14 0 0
CUI: C0426820
Disease: Thick rib
Thick rib
6 0 1 0.14 0 0
CUI: C1969697
Disease: Repetitive compulsive behavior
Repetitive compulsive behavior
6 4 1 0.14 2 0.40
CUI: C4021168
Disease: Slender toe
Slender toe
6 0 1 0.14 0 0
CUI: C4023691
Disease: Abnormality of pain sensation
Abnormality of pain sensation
6 0 1 0.14 0 0
CUI: C1854827
Disease: Heparan sulfate excretion in urine
Heparan sulfate excretion in urine
7 0 1 0.12 0 0
CUI: C4022873
Disease: Small pituitary gland
Small pituitary gland
7 0 1 0.12 0 0
CUI: C0312420
Disease: Hypersexuality state
Hypersexuality state
8 2 1 0.11 2 0.67