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: C4255043
Disease: Microphthalmos co-occurrent with congenital ocular coloboma
Microphthalmos co-occurrent with congenital ocular coloboma 		9 0 2 0.17 0 0
CUI: C1859775
Disease: Anterior pituitary hypoplasia
Anterior pituitary hypoplasia 		18 0 3 0.15 0 0
CUI: C0039981
Disease: Thoracic Neoplasms
Thoracic Neoplasms 		3 0 1 0.14 0 0
CUI: C1261504
Disease: Congenital absence of both testes
Congenital absence of both testes 		3 0 1 0.14 0 0
CUI: C1395317
Disease: Dextrocardia with situs inversus
Dextrocardia with situs inversus 		3 0 1 0.14 0 0
CUI: C1850663
Disease: Muscle hypertrophy of the lower extremities
Muscle hypertrophy of the lower extremities 		3 0 1 0.14 0 0
CUI: C1876185
Disease: Dysgnathia complex
Dysgnathia complex 		3 0 1 0.14 0 0
CUI: C0345397
Disease: Accessory rib
Accessory rib 		12 0 2 0.13 0 0
CUI: C0265242
Disease: Otocephaly
Otocephaly 		4 0 1 0.12 0 0
CUI: C0687149
Disease: Pure gonadal dysgenesis
Pure gonadal dysgenesis 		4 0 1 0.12 0 0
CUI: C1519172
Disease: Salivary Gland Carcinoma ex Pleomorphic Adenoma
Salivary Gland Carcinoma ex Pleomorphic Adenoma 		4 0 1 0.12 0 0
CUI: C1833798
Disease: Optic Nerve Aplasia, Bilateral
Optic Nerve Aplasia, Bilateral 		4 0 1 0.12 0 0
CUI: C1844752
Disease: Butterfly vertebrae
Butterfly vertebrae 		13 0 2 0.12 0 0
CUI: C1864871
Disease: Chromosome 17q21.31 Deletion Syndrome
Chromosome 17q21.31 Deletion Syndrome 		4 0 1 0.12 0 0
CUI: C1865295
Disease: Auriculo-condylar syndrome
Auriculo-condylar syndrome 		4 0 1 0.12 0 0
CUI: C4020963
Disease: Absent nares
Absent nares 		4 0 1 0.12 0 0
CUI: C4022707
Disease: Abnormal scrotal rugation
Abnormal scrotal rugation 		4 0 1 0.12 0 0
CUI: C4329212
Disease: 17-Alpha-Hydroxylase/17,20 Lyase Deficiency
17-Alpha-Hydroxylase/17,20 Lyase Deficiency 		4 0 1 0.12 0 0
CUI: C0346170
Disease: Serous cystadenoma of ovary
Serous cystadenoma of ovary 		5 0 1 0.11 0 0
CUI: C0685775
Disease: Congenital absence of jaw
Congenital absence of jaw 		5 0 1 0.11 0 0
CUI: C4025899
Disease: Abnormality of male internal genitalia
Abnormality of male internal genitalia 		5 0 1 0.11 0 0
CUI: C0018050
Disease: Gonadal Disorders
Gonadal Disorders 		6 0 1 1.0E-01 0 0
CUI: C0029587
Disease: Other eating disorders
Other eating disorders 		6 0 1 1.0E-01 0 0
CUI: C0950122
Disease: Frasier Syndrome
Frasier Syndrome 		6 0 1 1.0E-01 0 0
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		6 0 1 1.0E-01 0 0