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: C1150715
Disease: biotin-[acetyl-CoA-carboxylase] ligase activity
biotin-[acetyl-CoA-carboxylase] ligase activity 		1 0 1 0.50 0 0
CUI: C4304537
Disease: 2p21 microdeletion syndrome
2p21 microdeletion syndrome 		4 0 2 0.50 0 0
CUI: C4755274
Disease: Atypical hypotonia cystinuria syndrome
Atypical hypotonia cystinuria syndrome 		4 0 2 0.50 0 0
CUI: C1848030
Disease: Hypotonia-Cystinuria Syndrome
Hypotonia-Cystinuria Syndrome 		6 0 2 0.33 0 0
CUI: C4479088
Disease: MYASTHENIC SYNDROME, CONGENITAL, 22
MYASTHENIC SYNDROME, CONGENITAL, 22 		2 0 1 0.33 0 0
CUI: C0268641
Disease: Amino acid transport disorder
Amino acid transport disorder 		3 0 1 0.25 0 0
CUI: C1708957
Disease: Mediastinal Paraganglioma
Mediastinal Paraganglioma 		5 0 1 0.17 0 0
CUI: C3203503
Disease: Mixed delirium
Mixed delirium 		5 0 1 0.17 0 0
CUI: C0432593
Disease: Varus angulation
Varus angulation 		6 0 1 0.14 0 0
CUI: C4524517
Disease: cutaneous squamous cell carcinoma of the head and neck
cutaneous squamous cell carcinoma of the head and neck 		6 0 1 0.14 0 0
CUI: C0678255
Disease: polydrug use
polydrug use 		7 0 1 0.12 0 0
CUI: C3203501
Disease: Hypoactive delirium
Hypoactive delirium 		7 0 1 0.12 0 0
CUI: C0026613
Disease: Motor Skills Disorders
Motor Skills Disorders 		8 0 1 0.11 0 0
CUI: C1334411
Disease: Locally Metastatic Malignant Neoplasm
Locally Metastatic Malignant Neoplasm 		8 0 1 0.11 0 0
CUI: C1855263
Disease: Disorganized thinking
Disorganized thinking 		8 0 1 0.11 0 0
CUI: C0162669
Disease: Pleoconial Myopathies
Pleoconial Myopathies 		9 0 1 1.0E-01 0 0
CUI: C0949496
Disease: Luft Disease
Luft Disease 		9 0 1 1.0E-01 0 0
CUI: C1837610
Disease: ICHTHYOSIS PREMATURITY SYNDROME
ICHTHYOSIS PREMATURITY SYNDROME 		9 0 1 1.0E-01 0 0
CUI: C3164344
Disease: Adult onset autosomal dominant leukodystrophy
Adult onset autosomal dominant leukodystrophy 		9 0 1 1.0E-01 0 0
CUI: C2751582
Disease: Mitochondrial respiratory chain defects
Mitochondrial respiratory chain defects 		21 0 2 9.5E-02 0 0
CUI: C0010691
Disease: Cystinuria
Cystinuria 		22 0 2 9.1E-02 0 0
CUI: C0162668
Disease: Megaconial Myopathies
Megaconial Myopathies 		10 0 1 9.1E-02 0 0
CUI: C0343239
Disease: Benign congenital hypotonia
Benign congenital hypotonia 		11 0 1 8.3E-02 0 0
CUI: C0549225
Disease: Myasthenic Syndrome
Myasthenic Syndrome 		12 0 1 7.7E-02 0 0
CUI: C0149887
Disease: Slipped Capital Femoral Epiphyses
Slipped Capital Femoral Epiphyses 		15 0 1 6.2E-02 0 0