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: C0016202
Disease: Flatfoot
Flatfoot 		285 38 47 0.13 1 2.4E-02
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 28 0.13 0 0
CUI: C0221355
Disease: Macrocephaly
Macrocephaly 		367 0 56 0.13 0 0
CUI: C1866134
Disease: Wide anterior fontanel
Wide anterior fontanel 		71 0 21 0.12 0 0
CUI: C1853241
Disease: Flat face
Flat face 		83 0 22 0.12 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 36 0.12 0 0
CUI: C4316903
Disease: Absence Seizures
Absence Seizures 		205 0 34 0.12 0 0
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		63 0 19 0.12 0 0
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		218 0 35 0.12 0 0
CUI: C0240421
Disease: Progressive muscle weakness
Progressive muscle weakness 		44 0 17 0.11 0 0
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		251 0 38 0.11 0 0
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		261 0 39 0.11 0 0
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		141 0 26 0.11 0 0
CUI: C0151526
Disease: Premature Birth
Premature Birth 		192 0 31 0.11 0 0
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		14 0 13 0.11 0 0
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		15 0 13 0.11 0 0
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid 		15 0 13 0.11 0 0
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		172 0 28 0.11 0 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		28 0 14 0.10 0 0
CUI: C0423110
Disease: Downward slant of palpebral fissure
Downward slant of palpebral fissure 		391 49 48 0.10 1 1.9E-02
CUI: C0282525
Disease: Adrenoleukodystrophy, Neonatal
Adrenoleukodystrophy, Neonatal 		18 0 13 0.10 0 0
CUI: C0282527
Disease: Infantile Refsum Disease (disorder)
Infantile Refsum Disease (disorder) 		18 0 13 0.10 0 0
CUI: C0409348
Disease: Flexion contracture of proximal interphalangeal joint
Flexion contracture of proximal interphalangeal joint 		168 0 27 0.10 0 0
CUI: C4021815
Disease: Abnormal palate morphology
Abnormal palate morphology 		40 0 15 0.10 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 20 0.10 0 0