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: C2678480
Disease: Chromosome 22q11.2 Deletion Syndrome, Distal
Chromosome 22q11.2 Deletion Syndrome, Distal 		3 0 3 0.33 0 0
CUI: C3711391
Disease: 6q24-Related Transient Neonatal Diabetes Mellitus
6q24-Related Transient Neonatal Diabetes Mellitus 		2 0 2 0.22 0 0
CUI: C4749378
Disease: Paternal uniparental disomy of chromosome 6
Paternal uniparental disomy of chromosome 6 		2 0 2 0.22 0 0
CUI: C0546968
Disease: Fistula of branchial cleft
Fistula of branchial cleft 		8 0 3 0.21 0 0
CUI: C0404531
Disease: Hypertrophy of labia
Hypertrophy of labia 		4 0 2 0.18 0 0
CUI: C1844555
Disease: Absent toenail
Absent toenail 		11 0 3 0.18 0 0
CUI: C1306893
Disease: Anomaly of placenta
Anomaly of placenta 		5 0 2 0.17 0 0
CUI: C0579144
Disease: Cavovarus deformity of foot
Cavovarus deformity of foot 		6 0 2 0.15 0 0
CUI: C4025043
Disease: Abnormality of the pancreatic islet cells
Abnormality of the pancreatic islet cells 		6 0 2 0.15 0 0
CUI: C0152415
Disease: Ankyloglossia
Ankyloglossia 		19 0 3 0.12 0 0
CUI: C1844554
Disease: Absent fingernail
Absent fingernail 		19 0 3 0.12 0 0
CUI: C3278636
Disease: Neonatal insulin-dependent diabetes mellitus
Neonatal insulin-dependent diabetes mellitus 		10 0 2 0.12 0 0
CUI: C0238293
Disease: Osteomyelosclerosis
Osteomyelosclerosis 		1 0 1 0.11 0 0
CUI: C0265878
Disease: Preductal coarctation of aorta
Preductal coarctation of aorta 		1 0 1 0.11 0 0
CUI: C0268875
Disease: Urethrorectal fistula
Urethrorectal fistula 		1 0 1 0.11 0 0
CUI: C0456877
Disease: High grade T-cell lymphoma
High grade T-cell lymphoma 		1 0 1 0.11 0 0
CUI: C1332919
Disease: Cervical Mucinous Adenocarcinoma
Cervical Mucinous Adenocarcinoma 		1 0 1 0.11 0 0
CUI: C1841686
Disease: Absent hallux
Absent hallux 		1 0 1 0.11 0 0
CUI: C1845845
Disease: MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE (disorder)
MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE (disorder) 		1 0 1 0.11 0 0
CUI: C1855003
Disease: Bilateral postaxial polydactyly
Bilateral postaxial polydactyly 		1 0 1 0.11 0 0
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		11 0 2 0.11 0 0
CUI: C1868111
Disease: Polydactyly, preaxial 4
Polydactyly, preaxial 4 		1 0 1 0.11 0 0
CUI: C1968943
Disease: Rudimentary to absent tibiae
Rudimentary to absent tibiae 		1 0 1 0.11 0 0
CUI: C2363747
Disease: Neurological decompensation
Neurological decompensation 		1 0 1 0.11 0 0
CUI: C2825742
Disease: Disseminated Juvenile Xanthogranuloma
Disseminated Juvenile Xanthogranuloma 		1 0 1 0.11 0 0