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: C0796232
Disease: Bohring syndrome
Bohring syndrome 		5 0 2 0.29 0 0
CUI: C1848840
Disease: Bilateral radial aplasia
Bilateral radial aplasia 		1 0 1 0.25 0 0
CUI: C1860972
Disease: GENIOSPASM 1
GENIOSPASM 1 		1 0 1 0.25 0 0
CUI: C1864153
Disease: SCHIZOPHRENIA 5
SCHIZOPHRENIA 5 		1 0 1 0.25 0 0
CUI: C1969001
Disease: Shoulder muscle hypoplasia
Shoulder muscle hypoplasia 		1 0 1 0.25 0 0
CUI: C2673257
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC 3
EPILEPSY, PROGRESSIVE MYOCLONIC 3 		1 11 1 0.25 2 0.18
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		1 0 1 0.25 0 0
CUI: C4017260
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS
EPILEPSY, PROGRESSIVE MYOCLONIC, 3, WITH INTRACELLULAR INCLUSIONS 		1 0 1 0.25 0 0
CUI: C4025300
Disease: Axial malrotation of the kidney
Axial malrotation of the kidney 		1 0 1 0.25 0 0
CUI: C4025791
Disease: Photomyoclonic seizures
Photomyoclonic seizures 		1 0 1 0.25 0 0
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		1 0 1 0.25 0 0
CUI: C0431670
Disease: Webbed penis
Webbed penis 		2 0 1 0.20 0 0
CUI: C1849143
Disease: Progressive truncal ataxia
Progressive truncal ataxia 		2 0 1 0.20 0 0
CUI: C1857945
Disease: Hyperechogenic pancreas
Hyperechogenic pancreas 		2 0 1 0.20 0 0
CUI: C4023374
Disease: Delayed peripheral myelination
Delayed peripheral myelination 		2 0 1 0.20 0 0
CUI: C4023486
Disease: Focal EEG discharges with secondary generalization
Focal EEG discharges with secondary generalization 		2 0 1 0.20 0 0
CUI: C4024829
Disease: Nevus flammeus nuchae
Nevus flammeus nuchae 		2 3 1 0.20 2 0.67
CUI: C4025031
Disease: Aplasia/hypoplasia of the humerus
Aplasia/hypoplasia of the humerus 		2 0 1 0.20 0 0
CUI: C1866239
Disease: Mesomelic/rhizomelic limb shortening
Mesomelic/rhizomelic limb shortening 		3 0 1 0.17 0 0
CUI: C2676254
Disease: Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia
Prickle1-Related Progressive Myoclonus Epilepsy with Ataxia 		3 0 1 0.17 0 0
CUI: C3554656
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 		3 0 1 0.17 0 0
CUI: C4225346
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 		3 0 1 0.17 0 0
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		3 0 1 0.17 0 0
CUI: C0265514
Disease: Dermatofibrosis lenticularis disseminata
Dermatofibrosis lenticularis disseminata 		11 0 2 0.15 0 0
CUI: C1859455
Disease: Small anterior fontanelle
Small anterior fontanelle 		11 0 2 0.15 0 0