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: C4022919
Disease: Appendicular hypotonia
Appendicular hypotonia 		7 8 3 0.17 3 0.14
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		10 11 3 0.14 3 0.12
CUI: C1836829
Disease: Developmental stagnation at onset of seizures
Developmental stagnation at onset of seizures 		2 2 2 0.14 1 5.9E-02
CUI: C4317152
Disease: Dimple chin
Dimple chin 		2 2 2 0.14 2 0.12
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 21 4 0.14 4 0.12
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		3 3 2 0.13 1 5.6E-02
CUI: C1861388
Disease: Short 5th metacarpal
Short 5th metacarpal 		3 3 2 0.13 2 0.12
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		21 25 4 0.13 1 2.5E-02
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		4 0 2 0.12 0 0
CUI: C1185616
Disease: Hair whorls
Hair whorls 		4 5 2 0.12 2 0.11
CUI: C4023014
Disease: Stereotypical hand wringing
Stereotypical hand wringing 		4 5 2 0.12 1 5.0E-02
CUI: C0152421
Disease: Macrotia
Macrotia 		14 18 3 0.12 3 9.7E-02
CUI: C0239676
Disease: High forehead
High forehead 		14 17 3 0.12 1 3.1E-02
CUI: C0266295
Disease: Congenital hypoplasia of kidney
Congenital hypoplasia of kidney 		5 6 2 0.12 2 1.0E-01
CUI: C0576093
Disease: Knee joint valgus deformity
Knee joint valgus deformity 		5 5 2 0.12 2 0.11
CUI: C1833144
Disease: Slender long bone
Slender long bone 		5 5 2 0.12 2 0.11
CUI: C1857278
Disease: Partial or complete agenesis of corpus callosum
Partial or complete agenesis of corpus callosum 		5 0 2 0.12 0 0
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 29 4 0.11 1 2.3E-02
CUI: C1860493
Disease: Abnormality of the sternum
Abnormality of the sternum 		6 0 2 0.11 0 0
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		37 39 5 0.11 4 7.8E-02
CUI: C4023808
Disease: Hyperextensibility at elbow
Hyperextensibility at elbow 		7 7 2 0.11 2 9.5E-02
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		8 0 2 1.0E-01 0 0
CUI: C0026034
Disease: Microstomia
Microstomia 		8 9 2 1.0E-01 1 4.2E-02
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		19 18 3 1.0E-01 2 6.2E-02
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		8 8 2 1.0E-01 2 9.1E-02