Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Refractory anaemia with excess blasts
0 2 0 0 1 2.1E-02
CUI: C0014067
Disease: Occipital Encephalocele
Occipital Encephalocele
0 9 0 0 1 1.9E-02
CUI: C0035085
Disease: Renal infarction
Renal infarction
0 1 0 0 1 2.2E-02
CUI: C0043346
Disease: Xeroderma Pigmentosum
Xeroderma Pigmentosum
0 35 0 0 2 2.5E-02
CUI: C0151311
Disease: Cranial nerve palsies
Cranial nerve palsies
0 1 0 0 1 2.2E-02
CUI: C0242073
Disease: Pulmonary congestion
Pulmonary congestion
0 1 0 0 1 2.2E-02
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney
0 8 0 0 1 1.9E-02
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
Idiopathic Hypoparathyroidism
0 5 0 0 3 6.2E-02
CUI: C0398791
Disease: Nijmegen Breakage Syndrome
Nijmegen Breakage Syndrome
0 144 0 0 2 1.1E-02
CUI: C0854076
Disease: Distal ileal obstruction syndrome
Distal ileal obstruction syndrome
0 2 0 0 1 2.1E-02
CUI: C0878520
Disease: beta Thalassemia, heterozygous
beta Thalassemia, heterozygous
0 2 0 0 1 2.1E-02
CUI: C1262483
Disease: Hereditary stomatocytosis
Hereditary stomatocytosis
0 2 0 0 1 2.1E-02
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome
0 21 0 0 3 4.7E-02
CUI: C1333763
Disease: Gastric Cardia Carcinoma
Gastric Cardia Carcinoma
0 13 0 0 1 1.7E-02
CUI: C2676507
Disease: Inflammatory Bowel Disease 21
Inflammatory Bowel Disease 21
0 1 0 0 1 2.2E-02
CUI: C3266076
Disease: Orofacial cleft
Orofacial cleft
0 2 0 0 2 4.3E-02
CUI: C3540839
Disease: Neonatal Drug Withdrawal
Neonatal Drug Withdrawal
0 3 0 0 1 2.1E-02
Homozygous methylenetetrahydrofolate reductase mutation
0 1 0 0 1 2.2E-02
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia
0 3 0 0 3 6.5E-02
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge
426 0 1 2.0E-03 0 0
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus
417 0 1 2.0E-03 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure
391 0 1 2.1E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
337 0 1 2.4E-03 0 0
CUI: C1836830
Disease: Developmental regression
Developmental regression
333 0 1 2.4E-03 0 0
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
Adenoid Cystic Carcinoma
325 0 1 2.4E-03 0 0