Source: CLINVAR ×
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: C0578038
Disease: Thin lips
Thin lips 		8 8 2 1.0E-01 2 9.1E-02
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion 		8 8 2 1.0E-01 1 4.3E-02
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		8 11 2 1.0E-01 1 3.8E-02
CUI: C0003466
Disease: Anus, Imperforate
Anus, Imperforate 		9 8 2 9.5E-02 2 9.1E-02
CUI: C0747085
Disease: Recurrent otitis media
Recurrent otitis media 		9 10 2 9.5E-02 2 8.3E-02
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		10 10 2 9.1E-02 1 4.0E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		23 22 3 8.8E-02 1 2.7E-02
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		23 25 3 8.8E-02 2 5.1E-02
CUI: C1836047
Disease: Long face
Long face 		11 12 2 8.7E-02 1 3.7E-02
CUI: C1844505
Disease: Pointed chin
Pointed chin 		12 13 2 8.3E-02 1 3.6E-02
CUI: C1836830
Disease: Developmental regression
Developmental regression 		39 78 4 8.2E-02 4 4.4E-02
CUI: C0521525
Disease: Short neck
Short neck 		26 29 3 8.1E-02 2 4.7E-02
CUI: C0001807
Disease: Aggressive behavior
Aggressive behavior 		13 18 2 8.0E-02 1 3.0E-02
CUI: C0013132
Disease: Drooling
Drooling 		14 14 2 7.7E-02 2 7.1E-02
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		14 16 2 7.7E-02 2 6.7E-02
CUI: C1691215
Disease: Penile hypospadias
Penile hypospadias 		14 0 2 7.7E-02 0 0
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		14 0 2 7.7E-02 0 0
CUI: C0042580
Disease: Vesico-Ureteral Reflux
Vesico-Ureteral Reflux 		15 16 2 7.4E-02 1 3.2E-02
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow 		15 14 2 7.4E-02 2 7.1E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 3 7.3E-02 2 3.8E-02
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 3 7.1E-02 1 1.9E-02
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		1 1 1 7.1E-02 1 6.2E-02
CUI: C0040822
Disease: Tremor
Tremor 		16 21 2 7.1E-02 1 2.8E-02
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		1 1 1 7.1E-02 1 6.2E-02
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		1 1 1 7.1E-02 1 6.2E-02