Source: CURATED ×
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: C0003578
Disease: Apnea
Apnea 		0 7 0 0 1 7.1E-02
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0 58 0 0 1 1.5E-02
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0 19 0 0 1 3.8E-02
CUI: C0008489
Disease: Chorea
Chorea 		0 14 0 0 1 4.8E-02
CUI: C0010520
Disease: Cyanosis
Cyanosis 		0 1 0 0 1 0.12
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0 118 0 0 1 8.0E-03
CUI: C0014877
Disease: Esotropia
Esotropia 		0 39 0 0 2 4.4E-02
CUI: C0015930
Disease: Fetal Distress
Fetal Distress 		0 1 0 0 1 0.12
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		0 17 0 0 1 4.2E-02
CUI: C0020224
Disease: Polyhydramnios
Polyhydramnios 		0 28 0 0 1 2.9E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0 77 0 0 1 1.2E-02
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		0 245 0 0 2 8.0E-03
CUI: C0020757
Disease: Ichthyoses
Ichthyoses 		0 13 0 0 1 5.0E-02
CUI: C0024421
Disease: Macroglossia
Macroglossia 		0 2 0 0 1 0.11
CUI: C0025990
Disease: Micrognathism
Micrognathism 		0 52 0 0 2 3.4E-02
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		0 39 0 0 1 2.2E-02
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0 48 0 0 1 1.8E-02
CUI: C0038379
Disease: Strabismus
Strabismus 		0 85 0 0 5 5.7E-02
CUI: C0039075
Disease: Syndactyly
Syndactyly 		0 13 0 0 1 5.0E-02
CUI: C0042798
Disease: Low Vision
Low Vision 		0 41 0 0 4 8.9E-02
CUI: C0085682
Disease: Hypophosphatemia
Hypophosphatemia 		0 4 0 0 1 9.1E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0 22 0 0 1 3.4E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		0 18 0 0 2 8.3E-02
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0 21 0 0 1 3.6E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		0 64 0 0 1 1.4E-02