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: C1844562
Disease: Medial flaring of the eyebrow
Medial flaring of the eyebrow 		28 2 23 0.19 1 0.25
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		116 0 36 0.19 0 0
CUI: C0685840
Disease: Congenital hypoplasia of ovary
Congenital hypoplasia of ovary 		44 0 23 0.17 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		223 0 47 0.16 0 0
CUI: C3714581
Disease: Multicystic Dysplastic Kidney
Multicystic Dysplastic Kidney 		121 0 29 0.14 0 0
CUI: C0752166
Disease: Bardet-Biedl Syndrome
Bardet-Biedl Syndrome 		86 0 24 0.14 0 0
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		237 0 42 0.14 0 0
CUI: C2674608
Disease: Feeding difficulties in infancy
Feeding difficulties in infancy 		305 0 50 0.14 0 0
CUI: C1842366
Disease: Low anterior hairline
Low anterior hairline 		71 0 22 0.14 0 0
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		84 0 23 0.13 0 0
CUI: C1853487
Disease: Thick eyebrow
Thick eyebrow 		104 0 25 0.13 0 0
CUI: C0037822
Disease: Speech Disorders
Speech Disorders 		183 0 34 0.13 0 0
CUI: C0019572
Disease: Hirsutism
Hirsutism 		88 0 23 0.13 0 0
CUI: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		55 0 19 0.13 0 0
CUI: C2936862
Disease: Bardet-Biedl syndrome 1 (disorder)
Bardet-Biedl syndrome 1 (disorder) 		20 0 15 0.13 0 0
CUI: C0431904
Disease: Ulnar polydactyly of fingers
Ulnar polydactyly of fingers 		92 0 22 0.12 0 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		83 0 21 0.12 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 19 0.12 0 0
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		171 0 30 0.12 0 0
CUI: C4025821
Disease: Anterior hypopituitarism
Anterior hypopituitarism 		48 0 17 0.12 0 0
CUI: C0541794
Disease: Skeletal muscle atrophy
Skeletal muscle atrophy 		306 0 44 0.12 0 0
CUI: C4021734
Disease: Abnormality of mitochondrial metabolism
Abnormality of mitochondrial metabolism 		21 0 14 0.12 0 0
CUI: C0018979
Disease: Hemianopsia
Hemianopsia 		41 0 16 0.12 0 0
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		196 0 32 0.12 0 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		295 0 42 0.11 0 0