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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		850 135 12 1.4E-02 1 6.5E-03
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		783 111 13 1.6E-02 1 7.6E-03
CUI: C0007097
Disease: Carcinoma
Carcinoma 		2462 103 24 9.7E-03 3 2.5E-02
CUI: C0024299
Disease: Lymphoma
Lymphoma 		1548 91 19 1.2E-02 2 1.8E-02
CUI: C0010278
Disease: Craniosynostosis
Craniosynostosis 		488 90 20 3.9E-02 6 5.7E-02
CUI: C1862941
Disease: Amyotrophic Lateral Sclerosis, Sporadic
Amyotrophic Lateral Sclerosis, Sporadic 		173 90 3 1.4E-02 1 9.1E-03
CUI: C0013080
Disease: Down Syndrome
Down Syndrome 		766 80 10 1.2E-02 2 2.0E-02
CUI: C0013336
Disease: Dwarfism
Dwarfism 		1261 77 32 2.5E-02 7 7.7E-02
CUI: C4521042
Disease: Complete Trisomy 21 Syndrome
Complete Trisomy 21 Syndrome 		669 77 8 1.1E-02 2 2.1E-02
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		1098 73 19 1.7E-02 2 2.2E-02
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		140 68 3 1.6E-02 1 1.1E-02
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		584 68 8 1.3E-02 1 1.1E-02
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		1169 66 17 1.4E-02 2 2.4E-02
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		1171 66 17 1.4E-02 2 2.4E-02
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		186 65 13 5.9E-02 3 3.6E-02
CUI: C2931196
Disease: Craniofacial dysostosis type 1
Craniofacial dysostosis type 1 		15 52 4 7.0E-02 2 2.8E-02
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		325 43 11 3.1E-02 1 1.6E-02
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		16 42 6 0.11 9 0.17
CUI: C0456070
Disease: Growth delay
Growth delay 		244 40 4 1.4E-02 1 1.7E-02
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus 		473 37 7 1.4E-02 1 1.8E-02
CUI: C0220658
Disease: Pfeiffer Syndrome
Pfeiffer Syndrome 		8 36 3 5.9E-02 2 3.6E-02
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		407 35 4 8.9E-03 1 1.8E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		181 34 4 1.8E-02 1 1.9E-02
CUI: C0027962
Disease: Melanocytic nevus
Melanocytic nevus 		297 33 10 3.0E-02 1 1.9E-02
CUI: C0175699
Disease: Saethre-Chotzen Syndrome
Saethre-Chotzen Syndrome 		30 33 2 2.7E-02 1 1.9E-02