BRCA (tumor) | BRCA (normal) |
WT1, TP63, MDM2, GATA2, EGR1, PRKACA, TP73, CIAO1, UBE2I, PAWR, ZNF205, WTAP, EZH2, GATA1, SUZ12, DNMT1, AREG, FHL2, PDGFA, NPM3, IGF2 (tumor) | WT1, TP63, MDM2, GATA2, MEN1, CREBBP, PRKACA, TP73, CIAO1, ZNF205, WTAP, EZH2, GATA1, DNMT1, FHL2, PDGFA, NPM3, U2AF2, DVL3, TAOK1, PAX2 (normal) |
 |  |
|
COAD (tumor) | COAD (normal) |
WT1, TP53, TP63, MDM2, MEN1, EGR1, PRKACA, TP73, CIAO1, UBE2I, PAWR, EZH2, GATA1, SUZ12, DNMT1, AREG, U2AF2, DVL3, TAOK1, IGF2, PAX2 (tumor) | WT1, TP53, MDM2, GATA2, CREBBP, EGR1, PRKACA, TP73, CIAO1, WTAP, GATA1, SUZ12, DNMT1, AREG, FHL2, PDGFA, NPM3, U2AF2, DVL3, TAOK1, PAX2 (normal) |
 |  |
|
HNSC (tumor) | HNSC (normal) |
WT1, TP53, TP63, GATA2, MEN1, CREBBP, TP73, CIAO1, PAWR, ZNF205, WTAP, EZH2, SUZ12, DNMT1, FHL2, PDGFA, U2AF2, DVL3, TAOK1, IGF2, PAX2 (tumor) | WT1, TP63, MDM2, GATA2, MEN1, CREBBP, EGR1, PRKACA, TP73, CIAO1, UBE2I, ZNF205, WTAP, EZH2, AREG, FHL2, PDGFA, DVL3, TAOK1, IGF2, PAX2 (normal) |
 |  |
|
KICH (tumor) | KICH (normal) |
WT1, TP63, MDM2, GATA2, EGR1, PRKACA, TP73, PAWR, ZNF205, EZH2, SUZ12, DNMT1, AREG, FHL2, PDGFA, NPM3, U2AF2, DVL3, TAOK1, IGF2, PAX2 (tumor) | WT1, TP53, TP63, MDM2, GATA2, EGR1, PRKACA, CIAO1, UBE2I, PAWR, ZNF205, WTAP, SUZ12, DNMT1, AREG, FHL2, PDGFA, DVL3, TAOK1, IGF2, PAX2 (normal) |
 |  |
|
KIRC (tumor) | KIRC (normal) |
WT1, TP53, TP63, MDM2, GATA2, CREBBP, EGR1, PRKACA, CIAO1, UBE2I, ZNF205, WTAP, GATA1, DNMT1, FHL2, PDGFA, U2AF2, DVL3, TAOK1, IGF2, PAX2 (tumor) | WT1, TP53, TP63, MDM2, GATA2, CREBBP, PRKACA, TP73, CIAO1, UBE2I, PAWR, EZH2, SUZ12, DNMT1, FHL2, PDGFA, NPM3, U2AF2, DVL3, IGF2, PAX2 (normal) |
 |  |
|
KIRP (tumor) | KIRP (normal) |
WT1, TP63, MDM2, GATA2, MEN1, CREBBP, PRKACA, TP73, UBE2I, PAWR, WTAP, EZH2, SUZ12, DNMT1, FHL2, PDGFA, U2AF2, DVL3, TAOK1, IGF2, PAX2 (tumor) | WT1, TP53, TP63, GATA2, CREBBP, TP73, CIAO1, PAWR, ZNF205, WTAP, EZH2, GATA1, SUZ12, DNMT1, AREG, FHL2, PDGFA, NPM3, U2AF2, IGF2, PAX2 (normal) |
 |  |
|
LIHC (tumor) | LIHC (normal) |
WT1, TP53, GATA2, MEN1, EGR1, PRKACA, TP73, CIAO1, UBE2I, PAWR, WTAP, EZH2, GATA1, DNMT1, AREG, FHL2, PDGFA, NPM3, U2AF2, DVL3, IGF2 (tumor) | WT1, TP53, TP63, GATA2, MEN1, EGR1, TP73, CIAO1, UBE2I, WTAP, EZH2, SUZ12, DNMT1, AREG, FHL2, PDGFA, NPM3, U2AF2, DVL3, IGF2, PAX2 (normal) |
 |  |
|
LUAD (tumor) | LUAD (normal) |
WT1, TP53, MDM2, GATA2, MEN1, CREBBP, EGR1, PRKACA, TP73, UBE2I, PAWR, ZNF205, EZH2, SUZ12, FHL2, PDGFA, NPM3, DVL3, TAOK1, IGF2, PAX2 (tumor) | WT1, MDM2, GATA2, MEN1, PRKACA, CIAO1, PAWR, ZNF205, WTAP, EZH2, GATA1, SUZ12, DNMT1, AREG, FHL2, PDGFA, U2AF2, DVL3, TAOK1, IGF2, PAX2 (normal) |
 |  |
|
LUSC (tumor) | LUSC (normal) |
WT1, TP53, TP63, CREBBP, EGR1, PRKACA, TP73, UBE2I, PAWR, WTAP, EZH2, SUZ12, DNMT1, AREG, FHL2, PDGFA, NPM3, U2AF2, DVL3, TAOK1, IGF2 (tumor) | WT1, TP63, GATA2, MEN1, CREBBP, EGR1, PRKACA, TP73, UBE2I, ZNF205, EZH2, GATA1, DNMT1, AREG, FHL2, PDGFA, NPM3, U2AF2, TAOK1, IGF2, PAX2 (normal) |
 |  |
|
PRAD (tumor) | PRAD (normal) |
WT1, TP53, GATA2, MEN1, PRKACA, TP73, CIAO1, UBE2I, PAWR, ZNF205, WTAP, EZH2, GATA1, AREG, FHL2, PDGFA, NPM3, U2AF2, DVL3, TAOK1, PAX2 (tumor) | WT1, TP53, TP63, GATA2, MEN1, CREBBP, EGR1, PRKACA, TP73, UBE2I, PAWR, ZNF205, EZH2, GATA1, SUZ12, FHL2, PDGFA, NPM3, DVL3, TAOK1, PAX2 (normal) |
 |  |
|
STAD (tumor) | STAD (normal) |
WT1, TP53, GATA2, MEN1, CREBBP, EGR1, PRKACA, TP73, PAWR, EZH2, GATA1, SUZ12, DNMT1, AREG, PDGFA, NPM3, U2AF2, DVL3, TAOK1, IGF2, PAX2 (tumor) | WT1, TP63, MDM2, GATA2, MEN1, CREBBP, EGR1, PRKACA, TP73, CIAO1, UBE2I, WTAP, EZH2, GATA1, DNMT1, AREG, FHL2, PDGFA, DVL3, IGF2, PAX2 (normal) |
 |  |
|
THCA (tumor) | THCA (normal) |
WT1, TP53, TP63, MDM2, MEN1, CREBBP, EGR1, PRKACA, TP73, CIAO1, UBE2I, WTAP, EZH2, GATA1, DNMT1, AREG, FHL2, PDGFA, NPM3, DVL3, TAOK1 (tumor) | WT1, TP53, TP63, MEN1, PRKACA, TP73, UBE2I, ZNF205, WTAP, EZH2, GATA1, SUZ12, DNMT1, AREG, FHL2, PDGFA, NPM3, U2AF2, DVL3, TAOK1, IGF2 (normal) |
 |  |
|
Disease ID | Disease name | # pubmeds | Source |
umls:C0027708 | Nephroblastoma | 220 | BeFree,CTD_human,GAD,LHGDN,ORPHANET,UNIPROT |
umls:C0023467 | Leukemia, Myelocytic, Acute | 62 | BeFree,CTD_human,GAD,LHGDN |
umls:C0023418 | leukemia | 49 | BeFree,CTD_human,LHGDN |
umls:C0950121 | Denys-Drash Syndrome | 43 | BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT |
umls:C0281508 | Desmoplastic Small Round Cell Tumor | 38 | BeFree,ORPHANET |
umls:C0596263 | Carcinogenesis | 25 | BeFree |
umls:C0025362 | Mental Retardation | 22 | BeFree |
umls:C0242596 | Neoplasm, Residual | 19 | BeFree |
umls:C0950122 | Frasier Syndrome | 19 | BeFree,CLINVAR,CTD_human,LHGDN,ORPHANET,UNIPROT |
umls:C0085669 | Acute leukemia | 18 | BeFree |
umls:C0023473 | Myeloid Leukemia, Chronic | 15 | BeFree,CTD_human,GAD |
umls:C0206115 | WAGR Syndrome | 14 | BeFree,CTD_human,GAD,ORPHANET |
umls:C0006142 | Malignant neoplasm of breast | 12 | BeFree |
umls:C0027726 | Nephrotic Syndrome | 12 | BeFree,GAD,LHGDN |
umls:C0678222 | Breast Carcinoma | 12 | BeFree |
umls:C0280100 | Solid tumour | 10 | BeFree |
umls:C1458155 | Mammary Neoplasms | 10 | BeFree,CTD_human,LHGDN |
umls:C1511789 | Desmoplastic | 10 | BeFree |
umls:C0022665 | Kidney Neoplasm | 9 | BeFree,GAD |
umls:C0023449 | Acute lymphocytic leukemia | 9 | BeFree |
umls:C1261473 | Sarcoma | 9 | BeFree,LHGDN |
umls:C3839868 | Cytogenetically normal acute myeloid leukemia | 9 | BeFree |
umls:C0003076 | Aniridia | 8 | BeFree |
umls:C0023470 | Myeloid Leukemia | 8 | BeFree,GAD |
umls:C0000768 | Congenital Abnormality | 7 | BeFree |
umls:C0220621 | pediatric acute myeloblastic leukemia | 7 | BeFree |
umls:C0403397 | Steroid-resistant nephrotic syndrome | 7 | BeFree |
umls:C1961102 | Precursor Cell Lymphoblastic Leukemia Lymphoma | 7 | BeFree,LHGDN |
umls:C0018051 | Gonadal Dysgenesis | 6 | BeFree |
umls:C0025500 | Mesothelioma | 6 | BeFree,CLINVAR,LHGDN |
umls:C0041408 | Turner Syndrome | 6 | BeFree |
umls:C0598766 | Leukemogenesis | 6 | BeFree |
umls:C0005699 | Blast Phase | 5 | BeFree |
umls:C0017636 | Glioblastoma | 5 | BeFree,CTD_human,LHGDN |
umls:C0017638 | Glioma | 5 | BeFree,LHGDN |
umls:C0017668 | Focal glomerulosclerosis | 5 | BeFree,GAD,LHGDN |
umls:C0042063 | Urogenital Abnormalities | 5 | BeFree |
umls:C2239176 | Liver carcinoma | 5 | BeFree,LHGDN |
umls:C0007137 | Squamous cell carcinoma | 4 | BeFree,LHGDN |
umls:C0022658 | Kidney Diseases | 4 | BeFree |
umls:C0024299 | Lymphoma | 4 | BeFree,LHGDN |
umls:C0029463 | Osteosarcoma | 4 | BeFree,LHGDN |
umls:C0206661 | Gonadoblastoma | 4 | BeFree |
umls:C0242379 | Malignant neoplasm of lung | 4 | BeFree |
umls:C1840451 | MULTICYSTIC RENAL DYSPLASIA, BILATERAL | 4 | BeFree |
umls:C2930471 | Bilateral Wilms Tumor | 4 | BeFree |
umls:C3151568 | NEPHROTIC SYNDROME, TYPE 4 | 4 | CTD_human,UNIPROT |
umls:C0007131 | Non-Small Cell Lung Carcinoma | 3 | BeFree |
umls:C0022661 | Kidney Failure, Chronic | 3 | BeFree,GAD |
umls:C0025202 | melanoma | 3 | BeFree,LHGDN |
umls:C0027627 | Neoplasm Metastasis | 3 | LHGDN |
umls:C0028754 | Obesity | 3 | BeFree |
umls:C0029925 | Ovarian Carcinoma | 3 | BeFree |
umls:C0178664 | Glomerulosclerosis (disorder) | 3 | BeFree |
umls:C0268731 | Renal glomerular disease | 3 | BeFree |
umls:C0279702 | Conventional (Clear Cell) Renal Cell Carcinoma | 3 | BeFree |
umls:C0333497 | Segmental glomerulosclerosis | 3 | BeFree |
umls:C0555198 | Malignant Glioma | 3 | BeFree |
umls:C0677886 | Epithelial ovarian cancer | 3 | BeFree |
umls:C0684249 | Carcinoma of lung | 3 | BeFree |
umls:C0848558 | Hypospadias | 3 | BeFree,GAD |
umls:C0919267 | ovarian neoplasm | 3 | BeFree,LHGDN |
umls:C0001418 | Adenocarcinoma | 2 | BeFree,LHGDN |
umls:C0008626 | Congenital chromosomal disease | 2 | BeFree |
umls:C0009402 | Colorectal Carcinoma | 2 | BeFree |
umls:C0010417 | Cryptorchidism | 2 | BeFree |
umls:C0014170 | Endometrial Neoplasms | 2 | LHGDN |
umls:C0017658 | Glomerulonephritis | 2 | CTD_human,LHGDN |
umls:C0018916 | Hemangioma | 2 | BeFree |
umls:C0019284 | Diaphragmatic Hernia | 2 | BeFree,CTD_human |
umls:C0020502 | Hyperparathyroidism | 2 | BeFree,LHGDN |
umls:C0023448 | Lymphoid leukemia | 2 | BeFree |
umls:C0023452 | Leukemia, Lymphocytic, Acute, L1 | 2 | BeFree |
umls:C0023903 | Liver neoplasms | 2 | BeFree |
umls:C0024623 | Malignant neoplasm of stomach | 2 | BeFree |
umls:C0030297 | Pancreatic Neoplasm | 2 | CTD_human,GAD |
umls:C0033027 | Preleukemia | 2 | BeFree,GAD |
umls:C0035078 | Kidney Failure | 2 | BeFree |
umls:C0035335 | Retinoblastoma | 2 | BeFree |
umls:C0158687 | Congenital malformation of genital organs | 2 | BeFree |
umls:C0178874 | Tumor Progression | 2 | BeFree |
umls:C0206655 | Alveolar rhabdomyosarcoma | 2 | BeFree |
umls:C0206658 | Smooth Muscle Tumor | 2 | LHGDN |
umls:C0220615 | Adult Acute Myeloblastic Leukemia | 2 | BeFree |
umls:C0235833 | Congenital diaphragmatic hernia | 2 | BeFree,CTD_human |
umls:C0268747 | Diffuse mesangial sclerosis (disorder) | 2 | BeFree,CLINVAR,GAD |
umls:C0345967 | Malignant mesothelioma | 2 | BeFree |
umls:C0376358 | Malignant neoplasm of prostate | 2 | BeFree |
umls:C0376545 | Hematologic Neoplasms | 2 | BeFree |
umls:C0431663 | Bilateral Cryptorchidism | 2 | BeFree |
umls:C0585442 | Osteosarcoma of bone | 2 | BeFree |
umls:C0699791 | Stomach Carcinoma | 2 | BeFree |
umls:C0740457 | Malignant neoplasm of kidney | 2 | BeFree |
umls:C0751606 | Adult Acute Lymphocytic Leukemia | 2 | BeFree |
umls:C1140680 | Malignant neoplasm of ovary | 2 | BeFree |
umls:C1320468 | Nephrogenic rest | 2 | BeFree |
umls:C1378703 | Renal carcinoma | 2 | BeFree |
umls:C1527249 | Colorectal Cancer | 2 | BeFree |
umls:C1540912 | Hypereosinophilic syndrome | 2 | BeFree,LHGDN |
umls:C1621958 | Glioblastoma Multiforme | 2 | BeFree |
umls:C1691215 | Penile hypospadias | 2 | BeFree |
umls:C1837026 | MEACHAM SYNDROME (disorder) | 2 | CLINVAR,ORPHANET,UNIPROT |
umls:C1961099 | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 2 | BeFree |
umls:C0001430 | Adenoma | 1 | BeFree |
umls:C0002395 | Alzheimer's Disease | 1 | GAD,LHGDN |
umls:C0002793 | Anaplasia | 1 | BeFree |
umls:C0004352 | Autistic Disorder | 1 | BeFree |
umls:C0004903 | Beckwith-Wiedemann Syndrome | 1 | BeFree |
umls:C0007095 | Carcinoid Tumor | 1 | LHGDN |
umls:C0007102 | Malignant tumor of colon | 1 | BeFree |
umls:C0007115 | Malignant neoplasm of thyroid | 1 | BeFree |
umls:C0007134 | Renal Cell Carcinoma | 1 | BeFree |
umls:C0009375 | Colonic Neoplasms | 1 | CTD_human |
umls:C0011881 | Diabetic Nephropathy | 1 | BeFree |
umls:C0013080 | Down Syndrome | 1 | BeFree |
umls:C0014175 | Endometriosis | 1 | BeFree |
umls:C0014457 | Eosinophilia | 1 | BeFree |
umls:C0015397 | Disorder of eye | 1 | GAD |
umls:C0015625 | Fanconi Anemia | 1 | BeFree |
umls:C0016059 | Fibrosis | 1 | LHGDN |
umls:C0018923 | Hemangiosarcoma | 1 | BeFree |
umls:C0018939 | Hematological Disease | 1 | BeFree |
umls:C0019693 | HIV Infections | 1 | BeFree |
umls:C0020538 | Hypertensive disease | 1 | BeFree |
umls:C0021364 | Male infertility | 1 | BeFree |
umls:C0023269 | leiomyosarcoma | 1 | BeFree |
umls:C0023439 | Leukemia, Eosinophilic, Acute | 1 | BeFree |
umls:C0023480 | Leukemia, Myelomonocytic, Chronic | 1 | GAD |
umls:C0023895 | Liver diseases | 1 | BeFree |
umls:C0024121 | Lung Neoplasms | 1 | CTD_human |
umls:C0025149 | Medulloblastoma | 1 | LHGDN |
umls:C0025286 | Meningioma | 1 | BeFree |
umls:C0026985 | Myelodysplasia | 1 | BeFree |
umls:C0027686 | Pathologic Neovascularization | 1 | GAD |
umls:C0027809 | Neurilemmoma | 1 | CTD_human |
umls:C0033804 | Pseudohermaphroditism | 1 | BeFree |
umls:C0034069 | Pulmonary Fibrosis | 1 | BeFree |
umls:C0035412 | Rhabdomyosarcoma | 1 | BeFree |
umls:C0036429 | Sclerosis | 1 | LHGDN |
umls:C0036769 | Sertoli Cell Tumor | 1 | LHGDN |
umls:C0040136 | Thyroid Neoplasm | 1 | LHGDN |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C0079218 | Fibromatosis, Aggressive | 1 | BeFree,LHGDN |
umls:C0085183 | Neoplasms, Second Primary | 1 | GAD |
umls:C0085215 | Ovarian Failure, Premature | 1 | CTD_human |
umls:C0152013 | Adenocarcinoma of lung (disorder) | 1 | BeFree |
umls:C0153594 | Malignant neoplasm of testis | 1 | BeFree |
umls:C0153676 | Secondary malignant neoplasm of lung | 1 | BeFree |
umls:C0158570 | Vascular anomaly | 1 | BeFree |
umls:C0205647 | Follicular adenoma | 1 | BeFree |
umls:C0205851 | Germ cell tumor | 1 | BeFree |
umls:C0206141 | Idiopathic Hypereosinophilic Syndrome | 1 | BeFree |
umls:C0206663 | Neuroectodermal Tumor, Primitive | 1 | BeFree |
umls:C0206724 | Sex Cord-Stromal Tumor | 1 | BeFree |
umls:C0220810 | Congenital defects | 1 | BeFree |
umls:C0235974 | Pancreatic carcinoma | 1 | BeFree |
umls:C0238198 | Gastrointestinal Stromal Tumors | 1 | LHGDN |
umls:C0239179 | Defect of diaphragm | 1 | BeFree |
umls:C0242404 | Myofibroblastoma | 1 | BeFree |
umls:C0263662 | Disseminated eosinophilic collagen disease | 1 | BeFree |
umls:C0263666 | Dermatomyositis, Childhood Type | 1 | BeFree |
umls:C0278883 | Metastatic melanoma | 1 | BeFree |
umls:C0279000 | Liver and Intrahepatic Biliary Tract Carcinoma | 1 | BeFree |
umls:C0279980 | Extraosseous Ewings sarcoma-primitive neuroepithelial tumor | 1 | BeFree |
umls:C0280324 | Laryngeal Squamous Cell Carcinoma | 1 | BeFree |
umls:C0334121 | Inflammatory Myofibroblastic Tumor | 1 | BeFree |
umls:C0334463 | Malignant Fibrous Histiocytoma | 1 | BeFree |
umls:C0334513 | Sarcomatoid Mesothelioma | 1 | BeFree |
umls:C0334695 | Endometrial Stromal Tumors | 1 | LHGDN |
umls:C0345904 | Malignant neoplasm of liver | 1 | BeFree |
umls:C0346109 | Malignant Mesothelioma of Peritoneum | 1 | BeFree |
umls:C0346421 | Chronic eosinophilic leukemia | 1 | BeFree |
umls:C0346647 | Malignant neoplasm of pancreas | 1 | BeFree |
umls:C0346976 | Secondary malignant neoplasm of pancreas | 1 | BeFree |
umls:C0376544 | Hematopoietic Neoplasms | 1 | BeFree |
umls:C0432412 | Chromosome 8, trisomy | 1 | BeFree |
umls:C0520679 | Sleep Apnea, Obstructive | 1 | BeFree |
umls:C0549473 | Thyroid carcinoma | 1 | BeFree |
umls:C0600139 | Prostate carcinoma | 1 | BeFree |
umls:C0684337 | Ewings sarcoma-primitive neuroectodermal tumor (PNET) | 1 | BeFree |
umls:C0699790 | Colon Carcinoma | 1 | BeFree |
umls:C0751356 | Idiopathic Inflammatory Myopathies | 1 | BeFree |
umls:C0855197 | Testicular malignant germ cell tumor | 1 | BeFree |
umls:C0856742 | Post MI | 1 | BeFree |
umls:C0862312 | Epithelioid mesothelioma, malignant | 1 | BeFree |
umls:C1168401 | Squamous cell carcinoma of the head and neck | 1 | BeFree |
umls:C1275278 | Extraskeletal Myxoid Chondrosarcoma | 1 | BeFree |
umls:C1292769 | Precursor B-cell lymphoblastic leukemia | 1 | BeFree |
umls:C1306571 | Hepatic Insufficiency | 1 | LHGDN |
umls:C1306759 | Eosinophilic disorder | 1 | BeFree |
umls:C1319315 | Adenocarcinoma of large intestine | 1 | BeFree |
umls:C1333003 | Childhood Renal Neoplasm | 1 | BeFree |
umls:C1334630 | Malignant Vascular Neoplasm | 1 | BeFree |
umls:C1334699 | Mesenchymal Cell Neoplasm | 1 | BeFree |
umls:C1335302 | Pancreatic Ductal Adenocarcinoma | 1 | BeFree |
umls:C1335976 | Skull Base Meningioma | 1 | BeFree |
umls:C1336052 | Spindle Cell Neoplasm | 1 | BeFree |
umls:C1510586 | Autism Spectrum Disorders | 1 | BeFree |
umls:C1559271 | Non-Malignant Ascites Adverse Event | 1 | BeFree |
umls:C1636667 | Disorder characterized by eosinophilia | 1 | BeFree |
umls:C1762616 | Meningioma, benign, no ICD-O subtype | 1 | BeFree |
umls:C1834582 | MYELOPROLIFERATIVE SYNDROME, TRANSIENT | 1 | BeFree |
umls:C2316810 | Chronic kidney disease stage 5 | 1 | BeFree |
umls:C2751824 | 46, XY Disorders of Sex Development | 1 | BeFree |
umls:C2826025 | Mixed phenotype acute leukemia | 1 | BeFree |
umls:C2931785 | Juvenile dermatomyositis | 1 | BeFree |
umls:C2939461 | Myeloid neoplasm | 1 | BeFree |
umls:C3463824 | MYELODYSPLASTIC SYNDROME | 1 | GAD |
umls:C3469521 | FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | 1 | BeFree |
umls:C3539878 | Triple Negative Breast Neoplasms | 1 | BeFree |
umls:C2931752 | Meacham Winn Culler syndrome | 0 | CTD_human |
umls:C2931803 | Deletion 11p13 | 0 | ORPHANET |