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: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism 		17 0 10 0.18 0 0
CUI: C1563730
Disease: Abdominal Cryptorchidism
Abdominal Cryptorchidism 		8 0 8 0.17 0 0
CUI: C1563731
Disease: Inguinal Cryptorchidism
Inguinal Cryptorchidism 		8 0 8 0.17 0 0
CUI: C1851853
Disease: Midline notch of upper alveolar ridge
Midline notch of upper alveolar ridge 		8 0 8 0.17 0 0
CUI: C1848595
Disease: Mesoaxial polydactyly
Mesoaxial polydactyly 		9 0 8 0.16 0 0
CUI: C1848597
Disease: Central Y-shaped metacarpal
Central Y-shaped metacarpal 		9 0 8 0.16 0 0
CUI: C1856655
Disease: Hypoplasia of olfactory tract
Hypoplasia of olfactory tract 		9 0 8 0.16 0 0
CUI: C0241438
Disease: Tongue nodules
Tongue nodules 		11 0 8 0.16 0 0
CUI: C0431564
Disease: Lobulated tongue
Lobulated tongue 		14 0 8 0.15 0 0
CUI: C0431565
Disease: Hamartoma of tongue
Hamartoma of tongue 		18 0 8 0.14 0 0
CUI: C4025881
Disease: Abnormal oral frenulum morphology
Abnormal oral frenulum morphology 		19 0 8 0.14 0 0
CUI: C2745997
Disease: OROFACIODIGITAL SYNDROME VI
OROFACIODIGITAL SYNDROME VI 		11 0 7 0.13 0 0
CUI: C0342418
Disease: Hypothalamic hamartomas
Hypothalamic hamartomas 		29 0 8 0.12 0 0
CUI: C3806218
Disease: Episodic tachypnea
Episodic tachypnea 		31 0 8 0.11 0 0
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		35 0 8 0.11 0 0
CUI: C0345354
Disease: Radial polydactyly
Radial polydactyly 		51 0 9 1.0E-01 0 0
CUI: C4025891
Disease: Ambiguous genitalia, female
Ambiguous genitalia, female 		10 0 5 9.4E-02 0 0
CUI: C1609433
Disease: Congenital absence of kidneys syndrome
Congenital absence of kidneys syndrome 		110 0 13 9.0E-02 0 0
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		18 0 5 8.2E-02 0 0
CUI: C0426429
Disease: Broad nasal tip
Broad nasal tip 		125 8 13 8.1E-02 1 6.2E-02
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		60 0 8 8.0E-02 0 0
CUI: C0158734
Disease: Polydactyly of toes
Polydactyly of toes 		61 0 8 7.9E-02 0 0
CUI: C0158733
Disease: Hand polydactyly
Hand polydactyly 		75 0 9 7.9E-02 0 0
CUI: C1861331
Disease: Limited pronation/supination of forearm
Limited pronation/supination of forearm 		7 0 4 7.8E-02 0 0
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism 		50 0 7 7.7E-02 0 0