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 0.33 6 0.35
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		3 11 3 0.33 6 0.30
CUI: C1833144
Disease: Slender long bone
Slender long bone 		5 5 3 0.27 2 0.11
CUI: C1844505
Disease: Pointed chin
Pointed chin 		12 13 4 0.24 2 7.7E-02
CUI: C0426818
Disease: Thin rib
Thin rib 		2 1 2 0.22 1 6.7E-02
CUI: C1835884
Disease: Triangular face
Triangular face 		13 16 4 0.22 4 0.15
CUI: C1864853
Disease: Increased vertebral height
Increased vertebral height 		2 1 2 0.22 1 6.7E-02
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		2 4 2 0.22 2 0.12
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		2 1 2 0.22 1 6.7E-02
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		2 2 2 0.22 2 0.13
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		8 12 3 0.21 6 0.29
CUI: C0016506
Disease: Foot Deformities
Foot Deformities 		3 5 2 0.20 3 0.18
CUI: C3536734
Disease: Hypoplastic pelvis
Hypoplastic pelvis 		3 2 2 0.20 1 6.2E-02
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		10 14 3 0.19 5 0.21
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		10 12 3 0.19 1 3.8E-02
CUI: C0221358
Disease: Long narrow head
Long narrow head 		19 26 4 0.17 4 0.11
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		12 13 3 0.17 1 3.7E-02
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		6 0 2 0.15 0 0
CUI: C1865014
Disease: Long philtrum
Long philtrum 		15 16 3 0.14 2 6.9E-02
CUI: C1836450
Disease: Distal lower limb muscle weakness
Distal lower limb muscle weakness 		9 11 2 0.12 2 8.3E-02
CUI: C0018564
Disease: Hand deformities
Hand deformities 		1 2 1 0.11 2 0.13
CUI: C0020450
Disease: Hyperemesis Gravidarum
Hyperemesis Gravidarum 		1 3 1 0.11 3 0.20
CUI: C0023211
Disease: Left Bundle-Branch Block
Left Bundle-Branch Block 		1 1 1 0.11 1 6.7E-02
CUI: C0027888
Disease: Hereditary Motor and Sensory Neuropathies
Hereditary Motor and Sensory Neuropathies 		1 0 1 0.11 0 0
CUI: C0030590
Disease: Paroxysmal supraventricular tachycardia
Paroxysmal supraventricular tachycardia 		1 1 1 0.11 1 6.7E-02