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: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		26 35 8 0.15 8 0.12
CUI: C0221356
Disease: Brachycephaly
Brachycephaly 		19 18 7 0.14 4 7.5E-02
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		44 76 10 0.14 6 5.5E-02
CUI: C0575802
Disease: Small hand
Small hand 		24 31 7 0.13 4 6.1E-02
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		88 106 14 0.13 6 4.3E-02
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		35 49 8 0.12 5 6.0E-02
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		26 29 7 0.12 6 9.7E-02
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 11 0.12 7 6.4E-02
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots 		18 32 6 0.12 3 4.4E-02
CUI: C1865017
Disease: Thin upper lip vermilion
Thin upper lip vermilion 		18 25 6 0.12 3 4.9E-02
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		18 22 6 0.12 2 3.4E-02
CUI: C4025871
Disease: Abnormality of the face
Abnormality of the face 		9 24 5 0.12 3 5.0E-02
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 9 0.12 6 7.1E-02
CUI: C1854882
Disease: Absent speech
Absent speech 		46 72 9 0.12 6 5.7E-02
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		37 49 8 0.12 6 7.3E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 64 10 0.12 6 6.2E-02
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		19 21 6 0.12 6 0.11
CUI: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		29 30 7 0.12 2 3.0E-02
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		30 46 7 0.12 6 7.6E-02
CUI: C0431352
Disease: Secondary microcephaly
Secondary microcephaly 		11 20 5 0.12 3 5.4E-02
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 6 0.12 4 6.9E-02
CUI: C1844806
Disease: Weight less than 3rd percentile
Weight less than 3rd percentile 		22 27 6 0.11 4 6.5E-02
CUI: C1835884
Disease: Triangular face
Triangular face 		13 16 5 0.11 2 3.8E-02
CUI: C1861324
Disease: Short philtrum
Short philtrum 		24 25 6 0.11 5 8.5E-02
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		14 16 5 0.11 4 7.8E-02