Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
3 0 2 0.25 0 0
Growth Hormone Insensitivity Syndrome
4 0 2 0.22 0 0
CUI: C0858734
Disease: Insulin hypoglycemia
Insulin hypoglycemia
5 0 2 0.20 0 0
CUI: C0342336
Disease: Insulin resistance - type A
Insulin resistance - type A
6 0 2 0.18 0 0
CUI: C0006144
Disease: Breast Cyst
Breast Cyst
9 0 2 0.14 0 0
Megaloblastic anemia due to folate deficiency
1 0 1 0.14 0 0
CUI: C0152207
Disease: Alternating Exotropia
Alternating Exotropia
1 0 1 0.14 0 0
CUI: C0202220
Disease: Somatomedin-C measurement
Somatomedin-C measurement
1 0 1 0.14 0 0
CUI: C0242012
Disease: NEPHROTIC SYNDROME, CHRONIC
NEPHROTIC SYNDROME, CHRONIC
1 0 1 0.14 0 0
CUI: C0339678
Disease: Simple myopia
Simple myopia
1 0 1 0.14 0 0
CUI: C0423693
Disease: Growing pains
Growing pains
1 0 1 0.14 0 0
CUI: C0748534
Disease: sciatic nerve inflammation
sciatic nerve inflammation
1 0 1 0.14 0 0
CUI: C1096352
Disease: Pancreatic enlargement
Pancreatic enlargement
1 0 1 0.14 0 0
CUI: C1842382
Disease: Epilepsy, Benign Neonatal, 3
Epilepsy, Benign Neonatal, 3
1 0 1 0.14 0 0
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42
1 0 1 0.14 0 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
1 0 1 0.14 0 0
Early infantile epileptic encephalopathy, refractory
1 0 1 0.14 0 0
Macular hypopigmented whorls, streaks, and patches
1 0 1 0.14 0 0
CUI: C4022604
Disease: Glomerulomegaly
Glomerulomegaly
1 0 1 0.14 0 0
CUI: C4024854
Disease: Irregular hyperpigmentation of back
Irregular hyperpigmentation of back
1 0 1 0.14 0 0
Abnormality of inferior oblique extraocular muscle
1 1 1 0.14 1 5.9E-02
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME
1 0 1 0.14 0 0
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
1 0 1 0.14 0 0
CUI: C4476709
Disease: Delayed ability to stand
Delayed ability to stand
1 0 1 0.14 0 0
FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC
1 0 1 0.14 0 0