Source: ALL
Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
CUI: C0085183
Disease: Neoplasms, Second Primary
Neoplasms, Second Primary 		0 2 0 0 1 0.33
CUI: C0221166
Disease: Paraparesis
Paraparesis 		0 5 0 0 1 0.17
CUI: C0221347
Disease: Acrocyanosis
Acrocyanosis 		0 5 0 0 1 0.17
CUI: C0342342
Disease: Idiopathic Hypoparathyroidism
Idiopathic Hypoparathyroidism 		0 5 0 0 1 0.17
CUI: C0423461
Disease: Cilioretinal artery (disorder)
Cilioretinal artery (disorder) 		0 1 0 0 1 0.50
CUI: C0746731
Disease: Acute myocardial ischemia
Acute myocardial ischemia 		0 2 0 0 1 0.33
CUI: C0752121
Disease: Spinocerebellar Ataxia Type 2
Spinocerebellar Ataxia Type 2 		0 3 0 0 1 0.25
CUI: C1321551
Disease: Shprintzen-Goldberg syndrome
Shprintzen-Goldberg syndrome 		0 21 0 0 1 4.5E-02
CUI: C1856058
Disease: HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 		0 78 0 0 1 1.3E-02
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0 4 0 0 1 0.20
CUI: C1861537
Disease: OROFACIAL CLEFT 1
OROFACIAL CLEFT 1 		0 11 0 0 1 8.3E-02
CUI: C3266076
Disease: Orofacial cleft
Orofacial cleft 		0 2 0 0 1 0.33
CUI: C3540839
Disease: Neonatal Drug Withdrawal
Neonatal Drug Withdrawal 		0 3 0 0 1 0.25
CUI: C3714941
Disease: OTOFACIOCERVICAL SYNDROME 1
OTOFACIOCERVICAL SYNDROME 1 		0 10 0 0 1 9.1E-02
CUI: C4024948
Disease: Anterior encephalocele
Anterior encephalocele 		0 5 0 0 1 0.17
CUI: C4733577
Disease: adult chronic myelogenous leukemia
adult chronic myelogenous leukemia 		0 3 0 0 1 0.25
CUI: C0038379
Disease: Strabismus
Strabismus 		716 0 1 1.3E-03 0 0
CUI: C0005890
Disease: Body Height
Body Height 		1903 0 3 1.5E-03 0 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		590 0 1 1.6E-03 0 0
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		560 0 1 1.7E-03 0 0
CUI: C0239234
Disease: Low set ears
Low set ears 		489 0 1 1.9E-03 0 0
CUI: C0013362
Disease: Dysarthria
Dysarthria 		487 0 1 1.9E-03 0 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		477 0 1 1.9E-03 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		473 0 1 1.9E-03 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		967 0 2 2.0E-03 0 0