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: C4022010
Disease: Maternal seizures
Maternal seizures 		3 3 3 0.60 3 0.50
CUI: C4749123
Disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS 		2 0 2 0.40 0 0
CUI: C0231471
Disease: Abnormal posture
Abnormal posture 		13 7 3 0.20 3 0.30
CUI: C1835465
Disease: Short stature, postnatal
Short stature, postnatal 		1 3 1 0.20 1 0.12
CUI: C1839125
Disease: Say Meyer syndrome
Say Meyer syndrome 		1 0 1 0.20 0 0
CUI: C2363747
Disease: Neurological decompensation
Neurological decompensation 		1 0 1 0.20 0 0
CUI: C2678046
Disease: Mental Retardation, X-Linked, Syndromic, Turner Type
Mental Retardation, X-Linked, Syndromic, Turner Type 		1 25 1 0.20 1 3.3E-02
CUI: C3553788
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 2
ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 		1 38 1 0.20 1 2.3E-02
CUI: C4021229
Disease: Low insertion of columella
Low insertion of columella 		1 0 1 0.20 0 0
CUI: C4024976
Disease: Episodic generalized hypotonia
Episodic generalized hypotonia 		1 0 1 0.20 0 0
CUI: C4748560
Disease: ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS
ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS 		1 0 1 0.20 0 0
CUI: C1832466
Disease: CAPOS syndrome
CAPOS syndrome 		2 11 1 0.17 1 6.2E-02
CUI: C1863062
Disease: Episodic quadriplegia
Episodic quadriplegia 		2 0 1 0.17 0 0
CUI: C2751842
Disease: PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE
PARKINSON DISEASE 14, AUTOSOMAL RECESSIVE 		2 0 1 0.17 0 0
CUI: C3549447
Disease: ALTERNATING HEMIPLEGIA OF CHILDHOOD 1
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 		2 0 1 0.17 0 0
CUI: C3553932
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 98
DEAFNESS, AUTOSOMAL RECESSIVE 98 		2 0 1 0.17 0 0
CUI: C4025870
Disease: Abnormality of the mandible
Abnormality of the mandible 		2 1 1 0.17 1 0.17
CUI: C1850083
Disease: Irregular ossification at anterior rib ends
Irregular ossification at anterior rib ends 		3 0 1 0.14 0 0
CUI: C2684859
Disease: APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding) 		3 2 1 0.14 1 0.14
CUI: C4021650
Disease: Short third metatarsal
Short third metatarsal 		3 2 1 0.14 1 0.14
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		4 0 1 0.12 0 0
CUI: C1835194
Disease: Thick corpus callosum
Thick corpus callosum 		4 1 1 0.12 1 0.17
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 0.12 0 0
CUI: C4020963
Disease: Absent nares
Absent nares 		4 0 1 0.12 0 0
CUI: C0278110
Disease: Hemiplegia, Crossed
Hemiplegia, Crossed 		5 0 1 0.11 0 0