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: C0021171
Disease: Bloch Sulzberger syndrome
Bloch Sulzberger syndrome
1 0 1 1.0E-03 0 0
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
1 2 1 1.0E-03 1 1.7E-03
CUI: C0023138
Disease: Laurence-Moon Syndrome
Laurence-Moon Syndrome
1 0 1 1.0E-03 0 0
CUI: C0023374
Disease: Lesch-Nyhan Syndrome
Lesch-Nyhan Syndrome
1 0 1 1.0E-03 0 0
CUI: C0023521
Disease: Globoid cell leukodystrophy
Globoid cell leukodystrophy
1 0 1 1.0E-03 0 0
CUI: C0024748
Disease: alpha-Mannosidosis
alpha-Mannosidosis
1 0 1 1.0E-03 0 0
CUI: C0024814
Disease: Marinesco-Sjogren syndrome
Marinesco-Sjogren syndrome
1 0 1 1.0E-03 0 0
CUI: C0025210
Disease: Ocular melanosis
Ocular melanosis
1 0 1 1.0E-03 0 0
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1
1 0 1 1.0E-03 0 0
Multiple Endocrine Neoplasia Type 2a
1 0 1 1.0E-03 0 0
Multiple Endocrine Neoplasia Type 2b
1 0 1 1.0E-03 0 0
CUI: C0025467
Disease: Mesenteric Cyst
Mesenteric Cyst
1 2 1 1.0E-03 2 3.5E-03
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV
1 0 1 1.0E-03 0 0
CUI: C0027662
Disease: Multiple Endocrine Neoplasia
Multiple Endocrine Neoplasia
1 0 1 1.0E-03 0 0
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
1 764 1 1.0E-03 1 7.5E-04
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica
1 0 1 1.0E-03 0 0
Hereditary Motor and Sensory Neuropathies
1 1 1 1.0E-03 1 1.7E-03
CUI: C0028064
Disease: Niemann-Pick Diseases
Niemann-Pick Diseases
1 0 1 1.0E-03 0 0
CUI: C0030521
Disease: Parathyroid Neoplasms
Parathyroid Neoplasms
1 0 1 1.0E-03 0 0
CUI: C0031941
Disease: Pineal Gland Neoplasm
Pineal Gland Neoplasm
1 0 1 1.0E-03 0 0
CUI: C0032897
Disease: Prader-Willi Syndrome
Prader-Willi Syndrome
1 0 1 1.0E-03 0 0
CUI: C0033117
Disease: Priapism
Priapism
1 0 1 1.0E-03 0 0
CUI: C0033141
Disease: Cardiomyopathies, Primary
Cardiomyopathies, Primary
1 0 1 1.0E-03 0 0
CUI: C0033300
Disease: Progeria
Progeria
1 0 1 1.0E-03 0 0
CUI: C0033788
Disease: Pseudo-Hurler Polydystrophy
Pseudo-Hurler Polydystrophy
1 86 1 1.0E-03 1 1.5E-03