Source: ALL
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: C0542514
Disease: Blue sclera
Blue sclera 		70 0 7 7.4E-02 0 0
CUI: C0020608
Disease: Hypodontia
Hypodontia 		218 0 17 7.3E-02 0 0
CUI: C0426799
Disease: Congenital hypoplasia of clavicle
Congenital hypoplasia of clavicle 		28 0 4 7.3E-02 0 0
CUI: C0025995
Disease: Micromelia
Micromelia 		104 0 9 7.1E-02 0 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		14 0 3 7.1E-02 0 0
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		30 0 4 7.0E-02 0 0
CUI: C0239937
Disease: Microscopic hematuria
Microscopic hematuria 		15 0 3 7.0E-02 0 0
CUI: C0235752
Disease: Port-Wine Stain
Port-Wine Stain 		46 0 5 6.9E-02 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 13 6.9E-02 0 0
CUI: C1704330
Disease: Dental Diseases
Dental Diseases 		16 0 3 6.8E-02 0 0
CUI: C1843108
Disease: Short palm
Short palm 		110 0 9 6.8E-02 0 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		190 0 14 6.8E-02 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		176 23 13 6.7E-02 1 4.2E-02
CUI: C0014733
Disease: Erysipelas
Erysipelas 		17 0 3 6.7E-02 0 0
CUI: C0265677
Disease: Congenital hemivertebra
Congenital hemivertebra 		49 0 5 6.7E-02 0 0
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb 		49 0 5 6.7E-02 0 0
CUI: C1510460
Disease: Orofaciodigital Syndrome I
Orofaciodigital Syndrome I 		17 0 3 6.7E-02 0 0
CUI: C1837404
Disease: High, narrow palate
High, narrow palate 		129 0 10 6.7E-02 0 0
CUI: C1844809
Disease: Thick nasal alae
Thick nasal alae 		17 0 3 6.7E-02 0 0
CUI: C1838705
Disease: Anteriorly placed anus
Anteriorly placed anus 		34 0 4 6.6E-02 0 0
CUI: C1861324
Disease: Short philtrum
Short philtrum 		182 25 13 6.5E-02 1 3.8E-02
CUI: C1835583
Disease: Multiple long-bone exostoses
Multiple long-bone exostoses 		2 0 2 6.5E-02 0 0
CUI: C1856140
Disease: Pericardial lymphangiectasia
Pericardial lymphangiectasia 		2 0 2 6.5E-02 0 0
CUI: C1858545
Disease: Facial capillary hemangioma
Facial capillary hemangioma 		2 0 2 6.5E-02 0 0
CUI: C4225164
Disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 		2 0 2 6.5E-02 0 0