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: C4476792
Disease: High myoinositol in brain by MRS
High myoinositol in brain by MRS 		2 0 2 0.67 0 0
CUI: C0234174
Disease: Sucking reflex
Sucking reflex 		1 0 1 0.33 0 0
CUI: C0234966
Disease: Astasia
Astasia 		1 0 1 0.33 0 0
CUI: C1334963
Disease: Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma
Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma 		1 0 1 0.33 0 0
CUI: C1368295
Disease: Malignant basal cell tumor
Malignant basal cell tumor 		1 0 1 0.33 0 0
CUI: C1834038
Disease: Schilbach-Rott Syndrome
Schilbach-Rott Syndrome 		1 0 1 0.33 0 0
CUI: C1834930
Disease: Fusion of the left and right thalami
Fusion of the left and right thalami 		1 0 1 0.33 0 0
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		1 0 1 0.33 0 0
CUI: C1837781
Disease: Increased subcutaneous truncal adipose tissue
Increased subcutaneous truncal adipose tissue 		1 0 1 0.33 0 0
CUI: C1847886
Disease: Anomalous branches of internal carotid artery
Anomalous branches of internal carotid artery 		1 1 1 0.33 1 1.00
CUI: C1861693
Disease: Cervical Vertebral Dysplasia
Cervical Vertebral Dysplasia 		1 0 1 0.33 0 0
CUI: C3502054
Disease: Leukodystrophy, Dysmyelinating, with Oligodontia
Leukodystrophy, Dysmyelinating, with Oligodontia 		1 0 1 0.33 0 0
CUI: C3711390
Disease: 9q22.3 Microdeletion
9q22.3 Microdeletion 		1 0 1 0.33 0 0
CUI: C3805371
Disease: Pits of palms and soles
Pits of palms and soles 		1 0 1 0.33 0 0
CUI: C4020941
Disease: Sclerosis of finger phalanx
Sclerosis of finger phalanx 		1 0 1 0.33 0 0
CUI: C4022589
Disease: Fatigable weakness of speech muscles
Fatigable weakness of speech muscles 		1 0 1 0.33 0 0
CUI: C4023930
Disease: Enlarged epiphyses of the proximal phalanges of the hand
Enlarged epiphyses of the proximal phalanges of the hand 		1 1 1 0.33 1 1.00
CUI: C4024230
Disease: Contracture of the distal interphalangeal joint of the fingers
Contracture of the distal interphalangeal joint of the fingers 		1 1 1 0.33 1 1.00
CUI: C4025542
Disease: Humeral cortical thickening
Humeral cortical thickening 		1 1 1 0.33 1 1.00
CUI: C4025617
Disease: Atlantoaxial abnormality
Atlantoaxial abnormality 		1 0 1 0.33 0 0
CUI: C4025842
Disease: Abnormal uvea morphology
Abnormal uvea morphology 		1 1 1 0.33 1 1.00
CUI: C4073157
Disease: Decreased CSF biopterin level
Decreased CSF biopterin level 		1 0 1 0.33 0 0
CUI: C4476790
Disease: Decreased CSF protein
Decreased CSF protein 		1 0 1 0.33 0 0
CUI: C4476818
Disease: Nevus sebaceus
Nevus sebaceus 		1 0 1 0.33 0 0
CUI: C4476891
Disease: Decreased CSF/serum albumin ratio
Decreased CSF/serum albumin ratio 		1 0 1 0.33 0 0