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: C4023518
Disease: Abnormality of skin adnexa morphology
Abnormality of skin adnexa morphology 		2 2 2 0.40 2 0.33
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		6 5 2 0.22 2 0.22
CUI: C0040947
Disease: Trichostrongyloidiasis
Trichostrongyloidiasis 		1 0 1 0.20 0 0
CUI: C0282643
Disease: Smith-Lemli-Opitz Syndrome, Type I
Smith-Lemli-Opitz Syndrome, Type I 		1 0 1 0.20 0 0
CUI: C0282644
Disease: Smith-Lemli-Opitz Syndrome, Type II
Smith-Lemli-Opitz Syndrome, Type II 		1 0 1 0.20 0 0
CUI: C1334180
Disease: Inflammatory malignant fibrous histiocytoma
Inflammatory malignant fibrous histiocytoma 		1 0 1 0.20 0 0
CUI: C1334963
Disease: Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma 		1 0 1 0.20 0 0
CUI: C1368295
Disease: Malignant basal cell tumor
Malignant basal cell tumor 		1 0 1 0.20 0 0
CUI: C1834038
Disease: Schilbach-Rott Syndrome
Schilbach-Rott Syndrome 		1 0 1 0.20 0 0
CUI: C1834930
Disease: Fusion of the left and right thalami
Fusion of the left and right thalami 		1 0 1 0.20 0 0
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		1 7 1 0.20 1 8.3E-02
CUI: C1846061
Disease: Infancy onset short-trunk short stature
Infancy onset short-trunk short stature 		1 0 1 0.20 0 0
CUI: C1847886
Disease: Anomalous branches of internal carotid artery
Anomalous branches of internal carotid artery 		1 0 1 0.20 0 0
CUI: C1849185
Disease: Elevated 7-dehydrocholesterol
Elevated 7-dehydrocholesterol 		1 3 1 0.20 1 0.12
CUI: C2713347
Disease: 7-Dehydrocholesterol Reductase Deficiency
7-Dehydrocholesterol Reductase Deficiency 		1 0 1 0.20 0 0
CUI: C2931867
Disease: Dandy Walker cyst
Dandy Walker cyst 		1 0 1 0.20 0 0
CUI: C3150923
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES 		1 0 1 0.20 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		1 0 1 0.20 0 0
CUI: C3805371
Disease: Pits of palms and soles
Pits of palms and soles 		1 0 1 0.20 0 0
CUI: C4013764
Disease: MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES
MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES 		1 22 1 0.20 1 3.7E-02
CUI: C4023930
Disease: Enlarged epiphyses of the proximal phalanges of the hand
Enlarged epiphyses of the proximal phalanges of the hand 		1 0 1 0.20 0 0
CUI: C4024230
Disease: Contracture of the distal interphalangeal joint of the fingers
Contracture of the distal interphalangeal joint of the fingers 		1 0 1 0.20 0 0
CUI: C4025158
Disease: Rudimentary postaxial polydactyly of hands
Rudimentary postaxial polydactyly of hands 		1 0 1 0.20 0 0
CUI: C4025542
Disease: Humeral cortical thickening
Humeral cortical thickening 		1 0 1 0.20 0 0
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology 		1 0 1 0.20 0 0