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: C0426789
Disease: Short thorax
Short thorax 		3 8 3 0.30 6 0.38
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		3 11 3 0.30 6 0.32
CUI: C1833144
Disease: Slender long bone
Slender long bone 		5 5 3 0.25 3 0.19
CUI: C0026034
Disease: Microstomia
Microstomia 		8 9 3 0.20 2 9.5E-02
CUI: C0426818
Disease: Thin rib
Thin rib 		2 1 2 0.20 1 7.1E-02
CUI: C1864853
Disease: Increased vertebral height
Increased vertebral height 		2 1 2 0.20 1 7.1E-02
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		8 12 3 0.20 5 0.24
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		2 4 2 0.20 3 0.20
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		2 1 2 0.20 1 7.1E-02
CUI: C0024003
Disease: Lordosis
Lordosis 		9 15 3 0.19 5 0.21
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		3 3 2 0.18 2 0.13
CUI: C3536734
Disease: Hypoplastic pelvis
Hypoplastic pelvis 		3 2 2 0.18 1 6.7E-02
CUI: C4022873
Disease: Small pituitary gland
Small pituitary gland 		3 4 2 0.18 2 0.12
CUI: C1844505
Disease: Pointed chin
Pointed chin 		12 13 3 0.16 2 8.0E-02
CUI: C0018965
Disease: Hematuria
Hematuria 		5 9 2 0.15 2 9.5E-02
CUI: C1835884
Disease: Triangular face
Triangular face 		13 16 3 0.15 4 0.15
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth 		6 6 2 0.14 1 5.3E-02
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		23 22 4 0.14 2 5.9E-02
CUI: C1865014
Disease: Long philtrum
Long philtrum 		15 16 3 0.14 2 7.1E-02
CUI: C0015310
Disease: Exotropia
Exotropia 		17 21 3 0.12 2 6.1E-02
CUI: C0221358
Disease: Long narrow head
Long narrow head 		19 26 3 0.12 3 8.1E-02
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		10 13 2 0.11 1 3.8E-02
CUI: C4012968
Disease: Mild global developmental delay
Mild global developmental delay 		11 13 2 0.11 2 8.0E-02
CUI: C0014390
Disease: Entropion
Entropion 		1 1 1 1.0E-01 1 7.1E-02
CUI: C0041960
Disease: Ureterocele
Ureterocele 		1 0 1 1.0E-01 0 0