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: C4025616
Disease: CNS hypomyelination
CNS hypomyelination
32 0 1 4.6E-04 0 0
CUI: C0038663
Disease: Suicide attempt
Suicide attempt
31 0 1 4.6E-04 0 0
CUI: C0813217
Disease: Expressionless face
Expressionless face
31 0 1 4.6E-04 0 0
CUI: C1850794
Disease: Proximal amyotrophy
Proximal amyotrophy
29 0 1 4.6E-04 0 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination
29 0 1 4.6E-04 0 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy
29 0 1 4.6E-04 0 0
CUI: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow
28 0 1 4.6E-04 0 0
CUI: C3158111
Disease: response to SSRI
response to SSRI
28 0 1 4.6E-04 0 0
CUI: C0152115
Disease: Lingual-Facial-Buccal Dyskinesia
Lingual-Facial-Buccal Dyskinesia
26 4 1 4.6E-04 1 3.5E-03
CUI: C0265215
Disease: Meckel-Gruber syndrome
Meckel-Gruber syndrome
26 0 1 4.6E-04 0 0
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
26 0 1 4.6E-04 0 0
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding)
25 0 1 4.6E-04 0 0
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation
24 0 1 4.6E-04 0 0
Bone spicule pigmentation of the retina
24 0 1 4.6E-04 0 0
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation
24 0 1 4.6E-04 0 0
CUI: C4054546
Disease: Melanocortin 4 Receptor Deficiency
Melanocortin 4 Receptor Deficiency
24 0 1 4.6E-04 0 0
CUI: C0431376
Disease: Cobblestone Lissencephaly
Cobblestone Lissencephaly
23 0 1 4.6E-04 0 0
CUI: C0595939
Disease: Stillbirth
Stillbirth
23 0 1 4.6E-04 0 0
Generalized tonic-clonic seizures with focal onset
23 0 1 4.6E-04 0 0
CUI: C1568247
Disease: Usher Syndrome, Type I
Usher Syndrome, Type I
23 0 1 4.6E-04 0 0
CUI: C1849923
Disease: Generalized hypopigmentation
Generalized hypopigmentation
23 0 1 4.6E-04 0 0
CUI: C0000921
Disease: Accidental Falls
Accidental Falls
22 0 1 4.6E-04 0 0
CUI: C0556280
Disease: Gross motor impairment
Gross motor impairment
22 0 1 4.6E-04 0 0
CUI: C1854111
Disease: Broad philtrum
Broad philtrum
22 0 1 4.6E-04 0 0
CUI: C0036454
Disease: Scotoma
Scotoma
21 0 1 4.7E-04 0 0