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: C1835465
Disease: Short stature, postnatal
Short stature, postnatal 		1 3 1 0.25 1 0.33
CUI: C1839125
Disease: Say Meyer syndrome
Say Meyer syndrome 		1 0 1 0.25 0 0
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		1 0 1 0.25 0 0
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		1 25 1 0.25 1 4.0E-02
CUI: C3809624
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 18 		1 0 1 0.25 0 0
CUI: C4302893
Disease: Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome
Megalencephaly, polymicrogyria, postaxial polydactyly, hydrocephalus syndrome 		1 0 1 0.25 0 0
CUI: C4025870
Disease: Abnormality of the mandible
Abnormality of the mandible 		2 1 1 0.20 1 1.00
CUI: C4025875
Disease: Abnormality of the anterior fontanelle
Abnormality of the anterior fontanelle 		2 0 1 0.20 0 0
CUI: C0234861
Disease: Cri du chat
Cri du chat 		3 0 1 0.17 0 0
CUI: C4012727
Disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 		3 0 1 0.17 0 0
CUI: C4021650
Disease: Short third metatarsal
Short third metatarsal 		3 2 1 0.17 1 0.50
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		4 0 1 0.14 0 0
CUI: C0853697
Disease: Neutrophil count decreased
Neutrophil count decreased 		4 0 1 0.14 0 0
CUI: C1864652
Disease: Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate 		4 0 1 0.14 0 0
CUI: C4020963
Disease: Absent nares
Absent nares 		4 0 1 0.14 0 0
CUI: C0457756
Disease: Tooth absent
Tooth absent 		5 6 1 0.12 1 0.17
CUI: C1859923
Disease: Freckles in sun-exposed areas
Freckles in sun-exposed areas 		5 1 1 0.12 1 1.00
CUI: C4284594
Disease: BAND HETEROTOPIA
BAND HETEROTOPIA 		5 0 1 0.12 0 0
CUI: C0424939
Disease: Learning difficulties
Learning difficulties 		6 6 1 0.11 1 0.17
CUI: C1828210
Disease: Macular dystrophy, concentric annular
Macular dystrophy, concentric annular 		6 0 1 0.11 0 0
CUI: C1863924
Disease: Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome
Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome 		6 0 1 0.11 0 0
CUI: C4021168
Disease: Slender toe
Slender toe 		6 0 1 0.11 0 0
CUI: C0279763
Disease: endometrial adenoacanthoma
endometrial adenoacanthoma 		7 0 1 1.0E-01 0 0
CUI: C1857627
Disease: Chorioretinal dystrophy
Chorioretinal dystrophy 		7 0 1 1.0E-01 0 0
CUI: C0221214
Disease: Vascular ring
Vascular ring 		8 0 1 9.1E-02 0 0