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: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		89 118 2 1.6E-02 1 3.7E-03
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		64 116 6 6.2E-02 3 1.1E-02
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		22 115 11 0.22 53 0.25
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		18 114 10 0.22 61 0.30
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		16 102 10 0.23 49 0.24
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		43 100 5 6.6E-02 12 5.0E-02
CUI: C0279663
Disease: Serous cystadenocarcinoma ovary
Serous cystadenocarcinoma ovary 		9 99 8 0.21 54 0.27
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		4 98 2 5.0E-02 5 2.0E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		26 98 14 0.28 18 7.7E-02
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		16 96 11 0.26 49 0.24
CUI: C1849265
Disease: Overgrowth
Overgrowth 		81 93 5 4.4E-02 1 4.1E-03
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		63 92 3 3.1E-02 1 4.1E-03
CUI: C0035934
Disease: Rubinstein-Taybi Syndrome
Rubinstein-Taybi Syndrome 		1 86 1 2.6E-02 1 4.2E-03
CUI: C0038379
Disease: Strabismus
Strabismus 		61 85 3 3.1E-02 1 4.2E-03
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 1 1.0E-02 1 4.3E-03
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		13 82 8 0.19 17 7.8E-02
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		18 80 8 0.17 23 0.11
CUI: C0280630
Disease: Uterine Carcinosarcoma
Uterine Carcinosarcoma 		12 80 7 0.16 41 0.21
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 3 3.1E-02 3 1.3E-02
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		15 76 9 0.20 42 0.22
CUI: C4551602
Disease: Noonan Syndrome 1
Noonan Syndrome 1 		11 73 5 0.11 2 8.9E-03
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		12 72 2 4.2E-02 1 4.5E-03
CUI: C1275081
Disease: Cardio-facio-cutaneous syndrome
Cardio-facio-cutaneous syndrome 		4 70 4 0.11 8 3.7E-02
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		19 70 2 3.6E-02 1 4.5E-03
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		16 69 10 0.23 32 0.17