Associated Disease N. genes N. variants N. of shared genes JI g p-value g N. of shared variants JI v p-value v
Hearing complaints (excluding H84-86)
1 0 1 0.33 0 0
CUI: C1835465
Disease: Short stature, postnatal
Short stature, postnatal
1 3 1 0.33 1 0.25
CUI: C1839125
Disease: Say Meyer syndrome
Say Meyer syndrome
1 0 1 0.33 0 0
Mental Retardation, X-Linked, Syndromic, Turner Type
1 25 1 0.33 1 3.8E-02
CUI: C4022166
Disease: EMG: myokymic discharges
EMG: myokymic discharges
1 0 1 0.33 0 0
CUI: C4024607
Disease: Exercise-induced leg cramps
Exercise-induced leg cramps
1 0 1 0.33 0 0
CHROMOSOME 16p13.2 DELETION SYNDROME
1 0 1 0.33 0 0
CUI: C4025870
Disease: Abnormality of the mandible
Abnormality of the mandible
2 1 1 0.25 1 0.50
Percussion-induced rapid rolling muscle contractions
2 0 1 0.25 0 0
CUI: C1848514
Disease: Short fourth metatarsal
Short fourth metatarsal
8 2 2 0.22 2 1.00
CUI: C4024881
Disease: Few cafe-au-lait spots
Few cafe-au-lait spots
3 2 1 0.20 1 0.33
CUI: C4521481
Disease: Pseudomyotonia (finding)
Pseudomyotonia (finding)
3 0 1 0.20 0 0
CUI: C0524541
Disease: Deciduoma
Deciduoma
4 0 1 0.17 0 0
CUI: C0751919
Disease: Acquired Neuromyotonia
Acquired Neuromyotonia
4 0 1 0.17 0 0
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome
4 0 1 0.17 0 0
CUI: C1835194
Disease: Thick corpus callosum
Thick corpus callosum
4 1 1 0.17 1 0.50
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
4 0 1 0.17 0 0
CUI: C1868623
Disease: Handgrip myotonia
Handgrip myotonia
4 0 1 0.17 0 0
CUI: C4020963
Disease: Absent nares
Absent nares
4 0 1 0.17 0 0
CUI: C4021649
Disease: Short fifth metatarsal
Short fifth metatarsal
4 1 1 0.17 1 0.50
CUI: C4023802
Disease: Hyperextensibility of the knee
Hyperextensibility of the knee
4 3 1 0.17 1 0.25
CUI: C0457756
Disease: Tooth absent
Tooth absent
5 6 1 0.14 1 0.14
CUI: C1854657
Disease: Limb fasciculations
Limb fasciculations
5 0 1 0.14 0 0
CUI: C1859923
Disease: Freckles in sun-exposed areas
Freckles in sun-exposed areas
5 1 1 0.14 1 0.50
CUI: C4025212
Disease: Autonomic bladder dysfunction
Autonomic bladder dysfunction
5 1 1 0.14 1 0.50