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 0.60 3 0.30
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		3 11 3 0.60 3 0.23
CUI: C0426818
Disease: Thin rib
Thin rib 		2 1 2 0.40 1 0.20
CUI: C1864853
Disease: Increased vertebral height
Increased vertebral height 		2 1 2 0.40 1 0.20
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		2 4 2 0.40 2 0.29
CUI: C4021386
Disease: Abnormality of the elbow
Abnormality of the elbow 		2 0 2 0.40 0 0
CUI: C3536734
Disease: Hypoplastic pelvis
Hypoplastic pelvis 		3 0 2 0.33 0 0
CUI: C1844505
Disease: Pointed chin
Pointed chin 		12 13 4 0.31 3 0.20
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		8 12 3 0.30 2 0.13
CUI: C0024003
Disease: Lordosis
Lordosis 		9 15 3 0.27 2 0.11
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		10 14 3 0.25 3 0.19
CUI: C1865014
Disease: Long philtrum
Long philtrum 		15 16 4 0.25 2 0.11
CUI: C0240543
Disease: Bulbous nose
Bulbous nose 		12 13 3 0.21 2 0.12
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		1 1 1 0.20 1 0.20
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		1 1 1 0.20 1 0.20
CUI: C0158465
Disease: Acquired cubitus valgus
Acquired cubitus valgus 		1 1 1 0.20 1 0.20
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		1 1 1 0.20 1 0.20
CUI: C1835194
Disease: Thick corpus callosum
Thick corpus callosum 		1 1 1 0.20 1 0.20
CUI: C1835465
Disease: Short stature, postnatal
Short stature, postnatal 		1 3 1 0.20 1 0.14
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		1 0 1 0.20 0 0
CUI: C1835884
Disease: Triangular face
Triangular face 		13 16 3 0.20 2 0.11
CUI: C1839125
Disease: Say Meyer syndrome
Say Meyer syndrome 		1 0 1 0.20 0 0
CUI: C1840309
Disease: Short 4th metacarpal
Short 4th metacarpal 		1 1 1 0.20 1 0.20
CUI: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones 		1 1 1 0.20 1 0.20
CUI: C1847886
Disease: Anomalous branches of internal carotid artery
Anomalous branches of internal carotid artery 		1 1 1 0.20 1 0.20