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: C3853779
Disease: Neonatal Alloimmune Thrombocytopenia
Neonatal Alloimmune Thrombocytopenia 		29 0 7 0.14 0 0
CUI: C2981140
Disease: Glaucoma of childhood
Glaucoma of childhood 		30 0 7 0.14 0 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 0 13 0.14 0 0
CUI: C4025787
Disease: Calvarial skull defect
Calvarial skull defect 		22 0 6 0.14 0 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		23 0 6 0.13 0 0
CUI: C2674738
Disease: Abnormality of toe
Abnormality of toe 		6 0 4 0.13 0 0
CUI: C3164374
Disease: Abnormality of pulmonary valve
Abnormality of pulmonary valve 		40 0 8 0.13 0 0
CUI: C0078982
Disease: Arhinencephaly
Arhinencephaly 		35 0 7 0.12 0 0
CUI: C0030326
Disease: Panniculitis
Panniculitis 		37 0 7 0.12 0 0
CUI: C0542223
Disease: Loss of speech
Loss of speech 		37 0 7 0.12 0 0
CUI: C1856786
Disease: Hypoplastic fingernail
Hypoplastic fingernail 		30 0 6 0.12 0 0
CUI: C1704356
Disease: Enchondroma
Enchondroma 		41 0 7 0.11 0 0
CUI: C0265529
Disease: Plagiocephaly
Plagiocephaly 		74 0 10 0.11 0 0
CUI: C0346099
Disease: Nevus spilus
Nevus spilus 		3 0 3 0.11 0 0
CUI: C0270685
Disease: Cerebral calcification
Cerebral calcification 		103 0 12 0.10 0 0
CUI: C0473574
Disease: Inflammatory linear verrucous epidermal nevus
Inflammatory linear verrucous epidermal nevus 		5 0 3 1.0E-01 0 0
CUI: C3179502
Disease: Linear Verrucous Epidermal Nevus
Linear Verrucous Epidermal Nevus 		5 0 3 1.0E-01 0 0
CUI: C0362030
Disease: Verrucous epidermal nevus
Verrucous epidermal nevus 		6 0 3 9.7E-02 0 0
CUI: C4021785
Disease: Abnormality of the metacarpal bones
Abnormality of the metacarpal bones 		40 0 6 9.7E-02 0 0
CUI: C4022025
Disease: Asymmetric growth
Asymmetric growth 		6 0 3 9.7E-02 0 0
CUI: C0034735
Disease: Raynaud Phenomenon
Raynaud Phenomenon 		63 0 8 9.6E-02 0 0
CUI: C0221373
Disease: Claw hand
Claw hand 		63 0 8 9.6E-02 0 0
CUI: C0265329
Disease: Organoid Nevus Phakomatosis
Organoid Nevus Phakomatosis 		7 0 3 9.4E-02 0 0
CUI: C0018989
Disease: Hemiparesis
Hemiparesis 		91 0 10 9.2E-02 0 0
CUI: C2674737
Disease: Abnormality of finger
Abnormality of finger 		8 0 3 9.1E-02 0 0