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: C1858995
Disease: Decreased circulating progesterone
Decreased circulating progesterone
5 0 5 0.83 0 0
CUI: C1847967
Disease: OVARIOLEUKODYSTROPHY
OVARIOLEUKODYSTROPHY
7 0 5 0.62 0 0
CUI: C2960129
Disease: Vanishing white matter disease
Vanishing white matter disease
14 0 5 0.33 0 0
CUI: C1859014
Disease: Primary gonadal insufficiency
Primary gonadal insufficiency
21 0 5 0.23 0 0
CUI: C0348489
Disease: Other sphingolipidosis
Other sphingolipidosis
7 0 2 0.18 0 0
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination
29 0 5 0.17 0 0
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
1 0 1 0.17 0 0
CUI: C1859698
Disease: Contractures of the large joints
Contractures of the large joints
3 0 1 0.12 0 0
CUI: C0240735
Disease: Personality Change
Personality Change
43 0 5 0.11 0 0
CUI: C0030327
Disease: Panniculitis, Lupus Erythematosus
Panniculitis, Lupus Erythematosus
5 0 1 1.0E-01 0 0
CUI: C0425957
Disease: Secondary amenorrhea
Secondary amenorrhea
49 0 5 1.0E-01 0 0
CUI: C2919341
Disease: Edema of dorsum of foot
Edema of dorsum of foot
5 0 1 1.0E-01 0 0
Central nervous system demyelination
52 0 5 9.4E-02 0 0
Impaired oropharyngeal swallow response
6 0 1 9.1E-02 0 0
CUI: C0232940
Disease: Secondary physiologic amenorrhea
Secondary physiologic amenorrhea
58 0 5 8.5E-02 0 0
CUI: C1855010
Disease: Progressive leukoencephalopathy
Progressive leukoencephalopathy
7 0 1 8.3E-02 0 0
Childhood Ataxia with Central Nervous System Hypomyelinization
59 0 5 8.3E-02 0 0
CUI: C0011253
Disease: Delusions
Delusions
62 0 5 7.9E-02 0 0
CUI: C2732374
Disease: Edema of dorsum of hand
Edema of dorsum of hand
9 0 1 7.1E-02 0 0
CUI: C4024710
Disease: Cerebellar cortical atrophy
Cerebellar cortical atrophy
9 0 1 7.1E-02 0 0
CUI: C0232943
Disease: Intermenstrual heavy bleeding
Intermenstrual heavy bleeding
10 0 1 6.7E-02 0 0
CUI: C1274743
Disease: Hyperhidrosis Palmaris Et Plantaris
Hyperhidrosis Palmaris Et Plantaris
10 0 1 6.7E-02 0 0
CUI: C0008058
Disease: Chilblains
Chilblains
12 0 1 5.9E-02 0 0
CUI: C1859736
Disease: Progressive spastic quadriplegia
Progressive spastic quadriplegia
12 0 1 5.9E-02 0 0
CUI: C1258104
Disease: Diffuse Scleroderma
Diffuse Scleroderma
56 0 3 5.1E-02 0 0