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: C0546967
Disease: Posterior embryotoxon
Posterior embryotoxon 		44 0 25 0.19 0 0
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		75 9 24 0.15 1 7.7E-02
CUI: C0266544
Disease: Microcornea
Microcornea 		129 0 30 0.14 0 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		152 0 32 0.14 0 0
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		46 0 19 0.14 0 0
CUI: C4024809
Disease: Chorioretinal dysplasia
Chorioretinal dysplasia 		21 0 16 0.14 0 0
CUI: C0266551
Disease: Congenital coloboma of iris
Congenital coloboma of iris 		148 0 31 0.13 0 0
CUI: C0240063
Disease: Coloboma of iris
Coloboma of iris 		153 12 31 0.13 1 6.2E-02
CUI: C0035313
Disease: Retinal Dysplasia
Retinal Dysplasia 		34 0 16 0.12 0 0
CUI: C4022916
Disease: Abnormal aldolase level
Abnormal aldolase level 		16 0 14 0.12 0 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		28 0 15 0.12 0 0
CUI: C0457133
Disease: Muscle eye brain disease
Muscle eye brain disease 		19 0 14 0.12 0 0
CUI: C4025773
Disease: Aplasia/Hypoplasia involving the skeletal musculature
Aplasia/Hypoplasia involving the skeletal musculature 		19 0 14 0.12 0 0
CUI: C4073168
Disease: Abnormal lactate dehydrogenase activity
Abnormal lactate dehydrogenase activity 		19 0 14 0.12 0 0
CUI: C0265221
Disease: Walker-Warburg congenital muscular dystrophy
Walker-Warburg congenital muscular dystrophy 		21 0 14 0.12 0 0
CUI: C4082144
Disease: Metatarsal Valgus
Metatarsal Valgus 		22 0 14 0.12 0 0
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		14 0 13 0.11 0 0
CUI: C1836373
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K 		14 0 13 0.11 0 0
CUI: C4284790
Disease: Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1
Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 1 		14 0 13 0.11 0 0
CUI: C0239676
Disease: High forehead
High forehead 		211 0 33 0.11 0 0
CUI: C2936406
Disease: alpha-Dystroglycanopathies
alpha-Dystroglycanopathies 		15 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: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		25 0 14 0.11 0 0
CUI: C0423250
Disease: Corneal stromal opacities
Corneal stromal opacities 		46 0 16 0.11 0 0