Source: CLINVAR ×
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: C0029124
Disease: Optic Atrophy
Optic Atrophy 		19 34 1 7.0E-03 1 4.4E-03
CUI: C0013404
Disease: Dyspnea
Dyspnea 		18 21 1 7.1E-03 1 4.7E-03
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		18 0 1 7.1E-03 0 0
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		18 22 1 7.1E-03 1 4.7E-03
CUI: C0039685
Disease: Tetralogy of Fallot
Tetralogy of Fallot 		18 0 1 7.1E-03 0 0
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		18 0 1 7.1E-03 0 0
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		17 0 1 7.1E-03 0 0
CUI: C1843156
Disease: Progressive sensorineural hearing impairment
Progressive sensorineural hearing impairment 		17 0 1 7.1E-03 0 0
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		17 19 1 7.1E-03 2 9.6E-03
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		16 0 1 7.2E-03 0 0
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		16 25 1 7.2E-03 1 4.6E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		15 0 1 7.2E-03 0 0
CUI: C0019214
Disease: Hepatosplenomegaly
Hepatosplenomegaly 		15 0 1 7.2E-03 0 0
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		15 0 1 7.2E-03 0 0
CUI: C0456909
Disease: Blindness
Blindness 		15 0 1 7.2E-03 0 0
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		15 0 1 7.2E-03 0 0
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		15 0 1 7.2E-03 0 0
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		15 6 1 7.2E-03 1 5.1E-03
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		15 0 1 7.2E-03 0 0
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy 		15 19 1 7.2E-03 1 4.8E-03
CUI: C0004134
Disease: Ataxia
Ataxia 		14 0 1 7.3E-03 0 0
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		14 0 1 7.3E-03 0 0
CUI: C0037773
Disease: Spastic Paraplegia, Hereditary
Spastic Paraplegia, Hereditary 		14 0 1 7.3E-03 0 0
CUI: C1112256
Disease: Sensorimotor neuropathy
Sensorimotor neuropathy 		14 0 1 7.3E-03 0 0
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		13 0 1 7.4E-03 0 0