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: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy 		17 0 6 0.18 0 0
CUI: C1854885
Disease: Cerebral dysmyelination
Cerebral dysmyelination 		17 0 6 0.18 0 0
CUI: C1866504
Disease: Photosensitive Trichothiodystrophy
Photosensitive Trichothiodystrophy 		4 0 4 0.18 0 0
CUI: C1328587
Disease: Panhypogammaglobulinemia
Panhypogammaglobulinemia 		20 0 6 0.17 0 0
CUI: C1184919
Disease: Thoracic kyphosis
Thoracic kyphosis 		21 0 6 0.16 0 0
CUI: C1851972
Disease: Reticular hyperpigmentation
Reticular hyperpigmentation 		7 0 4 0.16 0 0
CUI: C4025797
Disease: Abnormality of prenatal development or birth
Abnormality of prenatal development or birth 		23 0 6 0.15 0 0
CUI: C0149651
Disease: Clubbing
Clubbing 		32 0 7 0.15 0 0
CUI: C1857656
Disease: Prematurely aged appearance
Prematurely aged appearance 		40 0 8 0.15 0 0
CUI: C2986691
Disease: Inherited bone marrow failure syndrome
Inherited bone marrow failure syndrome 		11 0 4 0.14 0 0
CUI: C0006266
Disease: Bronchospasm
Bronchospasm 		29 0 6 0.13 0 0
CUI: C4727832
Disease: Telomere Syndrome
Telomere Syndrome 		5 0 3 0.12 0 0
CUI: C1955934
Disease: Trichothiodystrophy Syndromes
Trichothiodystrophy Syndromes 		33 0 6 0.12 0 0
CUI: C4023400
Disease: Generalized hypopigmentation of hair
Generalized hypopigmentation of hair 		6 0 3 0.12 0 0
CUI: C0232513
Disease: Premature tooth loss
Premature tooth loss 		25 0 5 0.12 0 0
CUI: C1843496
Disease: Bilateral microphthalmos
Bilateral microphthalmos 		35 0 6 0.12 0 0
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		16 0 4 0.12 0 0
CUI: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis 		17 0 4 0.11 0 0
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		17 0 4 0.11 0 0
CUI: C0152009
Disease: White blood cell abnormality
White blood cell abnormality 		8 0 3 0.11 0 0
CUI: C0239804
Disease: White hair
White hair 		18 0 4 0.11 0 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		38 0 6 0.11 0 0
CUI: C4011556
Disease: Abnormal eyebrow morphology
Abnormal eyebrow morphology 		29 0 5 0.11 0 0
CUI: C4024737
Disease: Aplasia/Hypoplasia of the skin
Aplasia/Hypoplasia of the skin 		29 0 5 0.11 0 0
CUI: C4020958
Disease: Rough bone trabeculation
Rough bone trabeculation 		19 0 4 0.11 0 0