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: C0024954
Disease: Maxillary Neoplasms
Maxillary Neoplasms 		1 0 1 0.50 0 0
CUI: C0344535
Disease: Congenital corneal opacity
Congenital corneal opacity 		1 0 1 0.50 0 0
CUI: C0795915
Disease: Winter Shortland Temple syndrome
Winter Shortland Temple syndrome 		1 1 1 0.50 1 9.1E-02
CUI: C1835819
Disease: PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder)
PITUITARY ANOMALIES WITH HOLOPROSENCEPHALY-LIKE FEATURES (disorder) 		1 12 1 0.50 3 0.15
CUI: C1856892
Disease: Facial Dysmorphism with Multiple Malformations
Facial Dysmorphism with Multiple Malformations 		2 0 1 0.33 0 0
CUI: C1862314
Disease: Basal cell nevus
Basal cell nevus 		2 0 1 0.33 0 0
CUI: C2910315
Disease: Split foot, bilateral
Split foot, bilateral 		2 0 1 0.33 0 0
CUI: C4020815
Disease: Agenesis of incisor
Agenesis of incisor 		2 0 1 0.33 0 0
CUI: C0018987
Disease: Hemimelia
Hemimelia 		3 0 1 0.25 0 0
CUI: C0549307
Disease: Morning glory syndrome
Morning glory syndrome 		3 0 1 0.25 0 0
CUI: C4020699
Disease: Congenital dermal melanocytosis
Congenital dermal melanocytosis 		3 3 1 0.25 1 7.7E-02
CUI: C4020770
Disease: Hypoplasia of the premaxilla
Hypoplasia of the premaxilla 		3 0 1 0.25 0 0
CUI: C0266215
Disease: Anorectal atresia
Anorectal atresia 		4 0 1 0.20 0 0
CUI: C1334410
Disease: Localized Primitive Neuroectodermal Tumor
Localized Primitive Neuroectodermal Tumor 		4 0 1 0.20 0 0
CUI: C3278658
Disease: Linear hyperpigmentation
Linear hyperpigmentation 		4 2 1 0.20 1 8.3E-02
CUI: C4013429
Disease: Underdeveloped tragus
Underdeveloped tragus 		4 0 1 0.20 0 0
CUI: C4024220
Disease: Hypomelanotic macule
Hypomelanotic macule 		4 1 1 0.20 1 9.1E-02
CUI: C4551464
Disease: Aplasia/hypoplasia of the extremities
Aplasia/hypoplasia of the extremities 		4 0 1 0.20 0 0
CUI: C0271858
Disease: Tertiary hyperparathyroidism
Tertiary hyperparathyroidism 		5 0 1 0.17 0 0
CUI: C0685682
Disease: Single naris
Single naris 		5 0 1 0.17 0 0
CUI: C1859040
Disease: Medullary Cystic Kidney Disease Type 2
Medullary Cystic Kidney Disease Type 2 		5 0 1 0.17 0 0
CUI: C2188153
Disease: Undifferentiated/Unclassified Sarcoma
Undifferentiated/Unclassified Sarcoma 		5 0 1 0.17 0 0
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		5 0 1 0.17 0 0
CUI: C0016325
Disease: Fluoride Poisoning
Fluoride Poisoning 		6 0 1 0.14 0 0
CUI: C1513734
Disease: Solid/Multicystic Ameloblastoma
Solid/Multicystic Ameloblastoma 		6 10 1 0.14 1 5.0E-02