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 pontocerebellar hypoplasia
32 0 1 9.3E-04 0 0
CUI: C1287365
Disease: Bilirubin level result
Bilirubin level result
32 0 1 9.3E-04 0 0
CUI: C4025616
Disease: CNS hypomyelination
CNS hypomyelination
32 0 1 9.3E-04 0 0
Ichthyosiform Erythroderma, Congenital
31 0 1 9.3E-04 0 0
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
31 0 1 9.3E-04 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea
31 0 1 9.3E-04 0 0
CUI: C0006157
Disease: Breech Presentation
Breech Presentation
30 0 1 9.3E-04 0 0
CUI: C0205711
Disease: Pelizaeus-Merzbacher Disease
Pelizaeus-Merzbacher Disease
30 0 1 9.3E-04 0 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia
30 0 1 9.3E-04 0 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora
30 0 1 9.3E-04 0 0
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail
30 0 1 9.3E-04 0 0
CUI: C0201973
Disease: Creatine kinase measurement
Creatine kinase measurement
29 0 1 9.3E-04 0 0
CUI: C1834129
Disease: Abnormal vertebral morphology
Abnormal vertebral morphology
28 0 1 9.3E-04 0 0
CUI: C1847906
Disease: Onion bulb formation
Onion bulb formation
28 0 1 9.3E-04 0 0
CUI: C1849156
Disease: Spastic Ataxia
Spastic Ataxia
28 0 1 9.3E-04 0 0
Decreased number of peripheral myelinated nerve fibers
28 0 1 9.3E-04 0 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses
28 0 1 9.3E-04 0 0
CUI: C1261175
Disease: Pontoneocerebellar hypoplasia
Pontoneocerebellar hypoplasia
27 0 1 9.3E-04 0 0
CUI: C1856963
Disease: Fragile nails
Fragile nails
27 0 1 9.3E-04 0 0
CUI: C0015624
Disease: Fanconi Syndrome
Fanconi Syndrome
26 0 1 9.3E-04 0 0
CUI: C0205713
Disease: Roussy-Levy Syndrome (disorder)
Roussy-Levy Syndrome (disorder)
26 0 1 9.3E-04 0 0
CUI: C0279084
Disease: Kaposi's sarcoma classical type
Kaposi's sarcoma classical type
26 0 1 9.3E-04 0 0
CUI: C1865186
Disease: Bell-shaped thorax
Bell-shaped thorax
26 0 1 9.3E-04 0 0
CUI: C4551568
Disease: Joubert syndrome 1
Joubert syndrome 1
26 0 1 9.3E-04 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue
25 0 1 9.3E-04 0 0