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: C0152207
Disease: Alternating Exotropia
Alternating Exotropia 		1 1 1 0.25 1 0.25
CUI: C1334963
Disease: Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma 		1 0 1 0.25 0 0
CUI: C1368295
Disease: Malignant basal cell tumor
Malignant basal cell tumor 		1 0 1 0.25 0 0
CUI: C1834038
Disease: Schilbach-Rott Syndrome
Schilbach-Rott Syndrome 		1 0 1 0.25 0 0
CUI: C1834930
Disease: Fusion of the left and right thalami
Fusion of the left and right thalami 		1 0 1 0.25 0 0
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		1 0 1 0.25 0 0
CUI: C1847886
Disease: Anomalous branches of internal carotid artery
Anomalous branches of internal carotid artery 		1 1 1 0.25 1 0.25
CUI: C1851085
Disease: Severe expressive language delay
Severe expressive language delay 		11 7 3 0.25 3 0.38
CUI: C1968537
Disease: Severe speech delay
Severe speech delay 		1 0 1 0.25 0 0
CUI: C3276611
Disease: Absent or delayed speech development
Absent or delayed speech development 		1 0 1 0.25 0 0
CUI: C3279839
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7
MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 		1 39 1 0.25 1 2.4E-02
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		1 0 1 0.25 0 0
CUI: C3805371
Disease: Pits of palms and soles
Pits of palms and soles 		1 0 1 0.25 0 0
CUI: C3805727
Disease: MEGALENCEPHALY, AUTOSOMAL DOMINANT
MEGALENCEPHALY, AUTOSOMAL DOMINANT 		6 5 2 0.25 1 0.12
CUI: C3806616
Disease: Macular hypopigmented whorls, streaks, and patches
Macular hypopigmented whorls, streaks, and patches 		1 1 1 0.25 1 0.25
CUI: C4014821
Disease: Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome 		1 12 1 0.25 1 6.7E-02
CUI: C4021041
Disease: Maternal fever in pregnancy
Maternal fever in pregnancy 		1 1 1 0.25 1 0.25
CUI: C4022561
Disease: Maternal first trimester fever
Maternal first trimester fever 		1 1 1 0.25 1 0.25
CUI: C4022733
Disease: Widened cerebral subarachnoid space
Widened cerebral subarachnoid space 		1 1 1 0.25 1 0.25
CUI: C4023930
Disease: Enlarged epiphyses of the proximal phalanges of the hand
Enlarged epiphyses of the proximal phalanges of the hand 		1 1 1 0.25 1 0.25
CUI: C4024230
Disease: Contracture of the distal interphalangeal joint of the fingers
Contracture of the distal interphalangeal joint of the fingers 		1 1 1 0.25 1 0.25
CUI: C4024854
Disease: Irregular hyperpigmentation of back
Irregular hyperpigmentation of back 		1 1 1 0.25 1 0.25
CUI: C4025542
Disease: Humeral cortical thickening
Humeral cortical thickening 		1 1 1 0.25 1 0.25
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology 		1 1 1 0.25 1 0.25
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		1 0 1 0.25 0 0