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: C2750748
Disease: Chromosome 17p13.3 Duplication Syndrome
Chromosome 17p13.3 Duplication Syndrome 		2 0 2 0.33 0 0
CUI: C0085649
Disease: Peripheral edema
Peripheral edema 		3 0 2 0.29 0 0
CUI: C0751246
Disease: Illusions, Visual
Illusions, Visual 		5 0 2 0.22 0 0
CUI: C1838702
Disease: Retinitis Pigmentosa 13
Retinitis Pigmentosa 13 		6 0 2 0.20 0 0
CUI: C0231779
Disease: Heel toe gait
Heel toe gait 		7 0 2 0.18 0 0
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		7 0 2 0.18 0 0
CUI: C0395905
Disease: Postauricular fistula
Postauricular fistula 		1 0 1 0.17 0 0
CUI: C0406191
Disease: Pseudofolliculitis
Pseudofolliculitis 		8 0 2 0.17 0 0
CUI: C1835896
Disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder)
SPASTIC PARAPLEGIA 30, AUTOSOMAL RECESSIVE (disorder) 		1 0 1 0.17 0 0
CUI: C1848735
Disease: Developmental delay, mild
Developmental delay, mild 		1 0 1 0.17 0 0
CUI: C1862059
Disease: Supraauricular pit
Supraauricular pit 		1 0 1 0.17 0 0
CUI: C1862066
Disease: Branchial anomaly
Branchial anomaly 		1 3 1 0.17 1 0.33
CUI: C1862068
Disease: Fusion of middle ear ossicles
Fusion of middle ear ossicles 		1 0 1 0.17 0 0
CUI: C1864929
Disease: Cerebellar atrophy, progressive
Cerebellar atrophy, progressive 		1 0 1 0.17 0 0
CUI: C3280168
Disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC
NEUROPATHY, HEREDITARY SENSORY, TYPE IIC 		1 0 1 0.17 0 0
CUI: C3280283
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 9
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 		1 0 1 0.17 0 0
CUI: C4021230
Disease: Ectopic lacrimal punctum
Ectopic lacrimal punctum 		1 1 1 0.17 1 1.00
CUI: C4022176
Disease: Upper lip pit
Upper lip pit 		1 0 1 0.17 0 0
CUI: C4022428
Disease: Unilateral conductive hearing impairment
Unilateral conductive hearing impairment 		1 1 1 0.17 1 1.00
CUI: C4023795
Disease: Ectopic thymus tissue
Ectopic thymus tissue 		1 0 1 0.17 0 0
CUI: C4707092
Disease: Distal 17p13.3 microdeletion syndrome
Distal 17p13.3 microdeletion syndrome 		1 0 1 0.17 0 0
CUI: C1844857
Disease: Short nasal septum
Short nasal septum 		2 0 1 0.14 0 0
CUI: C1867020
Disease: SCALP-EAR-NIPPLE SYNDROME
SCALP-EAR-NIPPLE SYNDROME 		2 0 1 0.14 0 0
CUI: C1868570
Disease: CHAR SYNDROME
CHAR SYNDROME 		2 0 1 0.14 0 0
CUI: C4025234
Disease: Duplication of internal organs
Duplication of internal organs 		2 0 1 0.14 0 0