Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated genes and diseases:
gene_symbol: PIK3CA
disease_id: OMIM:612918
disease_name: CONGENITAL LIPOMATOUS OVERGROWTH, VASCULAR MALFORMATIONS, AND EPIDERMAL NEVI
gene_symbol: PIK3CA
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: PIK3CA
disease_id: OMIM:155500
disease_name: MACRODACTYLY
gene_symbol: PIK3CA
disease_id: OMIM:114550
disease_name: HEPATOCELLULAR CARCINOMA
gene_symbol: PIK3CA
disease_id: OMIM:613089
disease_name: CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH
gene_symbol: PIK3CA
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: PIK3CA
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: PIK3CA
disease_id: OMIM:602501
disease_name: MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME
gene_symbol: PIK3CA
disease_id: OMIM:182000
disease_name: KERATOSIS, SEBORRHEIC
gene_symbol: PIK3CA
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: PIK3CA
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: PIK3CA
disease_id: OMIM:606773
disease_name: HEMIFACIAL MYOHYPERPLASIA
gene_symbol: PIK3CA
disease_id: OMIM:162900
disease_name: NEVUS, EPIDERMAL
gene_symbol: POU6F2
disease_id: OMIM:601583
disease_name: WILMS TUMOR 5
gene_symbol: BUB1
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: BAX
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: BAX
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: RAD54B
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: PTPRJ
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: PDGFRL
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: PDGFRL
disease_id: OMIM:114550
disease_name: HEPATOCELLULAR CARCINOMA
gene_symbol: DCC
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: DCC
disease_id: OMIM:133239
disease_name: ESOPHAGEAL CANCER
gene_symbol: AKT1
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: AKT1
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: AKT1
disease_id: OMIM:176920
disease_name: PROTEUS SYNDROME
gene_symbol: AKT1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: TP53
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: TP53
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
gene_symbol: TP53
disease_id: OMIM:137800
disease_name: GLIOMA SUSCEPTIBILITY 1
gene_symbol: TP53
disease_id: OMIM:114550
disease_name: HEPATOCELLULAR CARCINOMA
gene_symbol: TP53
disease_id: OMIM:259500
disease_name: OSTEOGENIC SARCOMA
gene_symbol: TP53
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: BRAF
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: BRAF
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: DLC1
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: AXIN2
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: MCC
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: FGFR3
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: FGFR3
disease_id: OMIM:109800
disease_name: BLADDER CANCER
gene_symbol: FGFR3
disease_id: OMIM:603956
disease_name: CERVICAL CANCER
gene_symbol: FGFR3
disease_id: OMIM:273300
disease_name: TESTICULAR GERM CELL TUMOR
gene_symbol: FGFR3
disease_id: OMIM:162900
disease_name: NEVUS, EPIDERMAL
gene_symbol: FLCN
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: CCND1
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: CCND1
disease_id: OMIM:254500
disease_name: MYELOMA, MULTIPLE
gene_symbol: TLR2
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: SRC
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: EP300
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: MLH3
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: MLH3
disease_id: OMIM:608089
disease_name: ENDOMETRIAL CANCER
gene_symbol: PLA2G2A
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: CTNNB1
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: CTNNB1
disease_id: OMIM:114550
disease_name: HEPATOCELLULAR CARCINOMA
gene_symbol: CTNNB1
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: CTNNB1
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: CTNNB1
disease_id: OMIM:132600
disease_name: PILOMATRIXOMA
gene_symbol: AURKA
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: NRAS
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: NRAS
disease_id: OMIM:188470
disease_name: THYROID CANCER, NONMEDULLARY, 2
gene_symbol: NRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: NRAS
disease_id: OMIM:137550
disease_name: MELANOCYTIC NEVUS SYNDROME, CONGENITAL
gene_symbol: NRAS
disease_id: OMIM:614470
disease_name: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
gene_symbol: NRAS
disease_id: OMIM:249400
disease_name: MELANOSIS, NEUROCUTANEOUS
gene_symbol: NRAS
disease_id: OMIM:162900
disease_name: NEVUS, EPIDERMAL
gene_symbol: APC
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: APC
disease_id: OMIM:114550
disease_name: HEPATOCELLULAR CARCINOMA
gene_symbol: APC
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: BUB1B
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: PTPN12
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: CHIC2
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: LPP
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: JAK2
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: JAK2
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: JAK2
disease_id: OMIM:263300
disease_name: POLYCYTHEMIA VERA
gene_symbol: JAK2
disease_id: OMIM:614521
disease_name: THROMBOCYTHEMIA 3
gene_symbol: NUP214
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: NUP214
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: KRAS
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: KRAS
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
gene_symbol: KRAS
disease_id: OMIM:109800
disease_name: BLADDER CANCER
gene_symbol: KRAS
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: KRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: KRAS
disease_id: OMIM:108010
disease_name: ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
gene_symbol: KRAS
disease_id: OMIM:614470
disease_name: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
gene_symbol: KRAS
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: KRAS
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: KRAS
disease_id: OMIM:600268
disease_name: OCULOECTODERMAL SYNDROME
gene_symbol: GATA2
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: GATA2
disease_id: OMIM:614286
disease_name: MYELODYSPLASTIC SYNDROME
gene_symbol: KIT
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: KIT
disease_id: OMIM:273300
disease_name: TESTICULAR GERM CELL TUMOR
gene_symbol: PICALM
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: DNMT3A
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: TERT
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: MLLT10
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: RUNX1
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: FLT3
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: FLT3
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: CEBPA
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: ETV6
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: SH3GL1
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: NPM1
disease_id: OMIM:601626
disease_name: LEUKEMIA, ACUTE MYELOID
gene_symbol: RPS14
disease_id: OMIM:153550
disease_name: CHROMOSOME 5q DELETION SYNDROME
gene_symbol: GNAS
disease_id: OMIM:174800
disease_name: MCCUNE-ALBRIGHT SYNDROME
gene_symbol: GNAS
disease_id: OMIM:219080
disease_name: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
gene_symbol: GNAS
disease_id: OMIM:617686
disease_name: PITUITARY ADENOMA 3, MULTIPLE TYPES
gene_symbol: ASCC1
disease_id: OMIM:614266
disease_name: BARRETT ESOPHAGUS
gene_symbol: CTHRC1
disease_id: OMIM:614266
disease_name: BARRETT ESOPHAGUS
gene_symbol: MSR1
disease_id: OMIM:614266
disease_name: BARRETT ESOPHAGUS
gene_symbol: PDGFRA
disease_id: OMIM:607685
disease_name: HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC
gene_symbol: UBA1
disease_id: OMIM:301054
disease_name: VEXAS SYNDROME
gene_symbol: MPL
disease_id: OMIM:601977
disease_name: THROMBOCYTHEMIA 2
gene_symbol: MPL
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: SMARCB1
disease_id: OMIM:162091
disease_name: SCHWANNOMATOSIS 1
gene_symbol: NEK9
disease_id: OMIM:617025
disease_name: NEVUS COMEDONICUS
gene_symbol: GNB1
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: GNB1
disease_id: OMIM:614286
disease_name: MYELODYSPLASTIC SYNDROME
gene_symbol: TAL1
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: TAL2
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: NBN
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: BCR
disease_id: OMIM:613065
disease_name: LEUKEMIA, ACUTE LYMPHOBLASTIC
gene_symbol: BCR
disease_id: OMIM:608232
disease_name: LEUKEMIA, CHRONIC MYELOID
gene_symbol: KIF1B
disease_id: OMIM:256700
disease_name: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1
gene_symbol: RARA
disease_id: OMIM:612376
disease_name: ACUTE PROMYELOCYTIC LEUKEMIA
gene_symbol: CDH1
disease_id: OMIM:608089
disease_name: ENDOMETRIAL CANCER
gene_symbol: CDH1
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: CDH1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: MSH6
disease_id: OMIM:608089
disease_name: ENDOMETRIAL CANCER
gene_symbol: MSH3
disease_id: OMIM:608089
disease_name: ENDOMETRIAL CANCER
gene_symbol: BCL10
disease_id: OMIM:137245
disease_name: LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE
gene_symbol: BCL10
disease_id: OMIM:273300
disease_name: TESTICULAR GERM CELL TUMOR
gene_symbol: BCL10
disease_id: OMIM:156240
disease_name: MESOTHELIOMA, MALIGNANT
gene_symbol: TFE3
disease_id: OMIM:300854
disease_name: RENAL CELL CARCINOMA, Xp11-ASSOCIATED
gene_symbol: ZFHX3
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: MXI1
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: MAD1L1
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: CHEK2
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: CHEK2
disease_id: OMIM:259500
disease_name: OSTEOGENIC SARCOMA
gene_symbol: PTEN
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: BRCA2
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: BRCA2
disease_id: OMIM:194070
disease_name: WILMS TUMOR 1
gene_symbol: BRCA2
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: BRCA2
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: KLF6
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: KLF6
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: ACVR1B
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
gene_symbol: SMAD4
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
gene_symbol: STK11
disease_id: OMIM:260350
disease_name: PANCREATIC CANCER
gene_symbol: STK11
disease_id: OMIM:273300
disease_name: TESTICULAR GERM CELL TUMOR
gene_symbol: ASXL1
disease_id: OMIM:614286
disease_name: MYELODYSPLASTIC SYNDROME
gene_symbol: SF3B1
disease_id: OMIM:614286
disease_name: MYELODYSPLASTIC SYNDROME
gene_symbol: TET2
disease_id: OMIM:614286
disease_name: MYELODYSPLASTIC SYNDROME
gene_symbol: ERBB2
disease_id: OMIM:137800
disease_name: GLIOMA SUSCEPTIBILITY 1
gene_symbol: ERBB2
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: ERBB2
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: ERBB2
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: IDH1
disease_id: OMIM:137800
disease_name: GLIOMA SUSCEPTIBILITY 1
gene_symbol: SRGAP1
disease_id: OMIM:188470
disease_name: THYROID CANCER, NONMEDULLARY, 2
gene_symbol: HRAS
disease_id: OMIM:188470
disease_name: THYROID CANCER, NONMEDULLARY, 2
gene_symbol: HRAS
disease_id: OMIM:109800
disease_name: BLADDER CANCER
gene_symbol: HRAS
disease_id: OMIM:163200
disease_name: SCHIMMELPENNING-FEUERSTEIN-MIMS SYNDROME
gene_symbol: HRAS
disease_id: OMIM:137550
disease_name: MELANOCYTIC NEVUS SYNDROME, CONGENITAL
gene_symbol: HRAS
disease_id: OMIM:162900
disease_name: NEVUS, EPIDERMAL
gene_symbol: MINPP1
disease_id: OMIM:188470
disease_name: THYROID CANCER, NONMEDULLARY, 2
gene_symbol: WT1
disease_id: OMIM:194080
disease_name: DENYS-DRASH SYNDROME
gene_symbol: WT1
disease_id: OMIM:136680
disease_name: FRASIER SYNDROME
gene_symbol: WT1
disease_id: OMIM:194072
disease_name: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: WT1
disease_id: OMIM:194070
disease_name: WILMS TUMOR 1
gene_symbol: WT1
disease_id: OMIM:156240
disease_name: MESOTHELIOMA, MALIGNANT
gene_symbol: NF1
disease_id: OMIM:607785
disease_name: JUVENILE MYELOMONOCYTIC LEUKEMIA
gene_symbol: CBL
disease_id: OMIM:607785
disease_name: JUVENILE MYELOMONOCYTIC LEUKEMIA
gene_symbol: PTPN11
disease_id: OMIM:607785
disease_name: JUVENILE MYELOMONOCYTIC LEUKEMIA
gene_symbol: ARHGAP26
disease_id: OMIM:607785
disease_name: JUVENILE MYELOMONOCYTIC LEUKEMIA
gene_symbol: ABL1
disease_id: OMIM:608232
disease_name: LEUKEMIA, CHRONIC MYELOID
gene_symbol: TSC1
disease_id: OMIM:606690
disease_name: LYMPHANGIOLEIOMYOMATOSIS
gene_symbol: TSC1
disease_id: OMIM:607341
disease_name: FOCAL CORTICAL DYSPLASIA, TYPE II
gene_symbol: TSC2
disease_id: OMIM:606690
disease_name: LYMPHANGIOLEIOMYOMATOSIS
gene_symbol: TSC2
disease_id: OMIM:607341
disease_name: FOCAL CORTICAL DYSPLASIA, TYPE II
gene_symbol: GNAI2
disease_id: OMIM:192605
disease_name: VENTRICULAR TACHYCARDIA, FAMILIAL
gene_symbol: FOXO1
disease_id: OMIM:268220
disease_name: RHABDOMYOSARCOMA 2
gene_symbol: PAX3
disease_id: OMIM:268220
disease_name: RHABDOMYOSARCOMA 2
gene_symbol: PAX7
disease_id: OMIM:268220
disease_name: RHABDOMYOSARCOMA 2
gene_symbol: C1GALT1C1
disease_id: OMIM:300622
disease_name: TN POLYAGGLUTINATION SYNDROME
gene_symbol: MET
disease_id: OMIM:114550
disease_name: HEPATOCELLULAR CARCINOMA
gene_symbol: MET
disease_id: OMIM:605074
disease_name: RENAL CELL CARCINOMA, PAPILLARY, 1
gene_symbol: AXIN1
disease_id: OMIM:114550
disease_name: HEPATOCELLULAR CARCINOMA
gene_symbol: IGF2R
disease_id: OMIM:114550
disease_name: HEPATOCELLULAR CARCINOMA
gene_symbol: CASP8
disease_id: OMIM:114550
disease_name: HEPATOCELLULAR CARCINOMA
gene_symbol: CASP8
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: CASP8
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: MYD88
disease_id: OMIM:153600
disease_name: MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1
gene_symbol: FGFR1
disease_id: OMIM:613001
disease_name: ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS
gene_symbol: RB1
disease_id: OMIM:109800
disease_name: BLADDER CANCER
gene_symbol: RB1
disease_id: OMIM:180200
disease_name: RETINOBLASTOMA
gene_symbol: RB1
disease_id: OMIM:259500
disease_name: OSTEOGENIC SARCOMA
gene_symbol: PAX6
disease_id: OMIM:194072
disease_name: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: LIG4
disease_id: OMIM:254500
disease_name: MYELOMA, MULTIPLE
gene_symbol: PRCC
disease_id: OMIM:605074
disease_name: RENAL CELL CARCINOMA, PAPILLARY, 1
gene_symbol: GPC3
disease_id: OMIM:194070
disease_name: WILMS TUMOR 1
gene_symbol: GPC4
disease_id: OMIM:194070
disease_name: WILMS TUMOR 1
gene_symbol: IGF2
disease_id: OMIM:194070
disease_name: WILMS TUMOR 1
gene_symbol: H19
disease_id: OMIM:194070
disease_name: WILMS TUMOR 1
gene_symbol: CREB1
disease_id: OMIM:612160
disease_name: HISTIOCYTOMA, ANGIOMATOID FIBROUS
gene_symbol: GPR161
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: SUFU
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: ELP1
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: PTCH2
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: SMO
disease_id: OMIM:601707
disease_name: CURRY-JONES SYNDROME
gene_symbol: MYC
disease_id: OMIM:113970
disease_name: BURKITT LYMPHOMA
gene_symbol: IL6ST
disease_id: OMIM:619750
disease_name: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES
gene_symbol: SH2B3
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: CALR
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: PIGT
disease_id: OMIM:615399
disease_name: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
gene_symbol: OPCML
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: PRKN
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: PRKN
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: ARMC5
disease_id: OMIM:615954
disease_name: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA 2
gene_symbol: IL1B
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: IL1RN
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: CASP10
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: IRF1
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: IRF1
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: FGFR2
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: MUTYH
disease_id: OMIM:613659
disease_name: GASTRIC CANCER
gene_symbol: AIP
disease_id: OMIM:102200
disease_name: PITUITARY ADENOMA 1, MULTIPLE TYPES
gene_symbol: IL6
disease_id: OMIM:108010
disease_name: ARTERIOVENOUS MALFORMATIONS OF THE BRAIN
gene_symbol: PLAG1
disease_id: OMIM:181030
disease_name: SALIVARY GLAND ADENOMA, PLEOMORPHIC
gene_symbol: DICER1
disease_id: OMIM:618272
disease_name: GLOBAL DEVELOPMENTAL DELAY, LUNG CYSTS, OVERGROWTH, AND WILMS TUMOR
gene_symbol: RNF6
disease_id: OMIM:133239
disease_name: ESOPHAGEAL CANCER
gene_symbol: TGFBR2
disease_id: OMIM:133239
disease_name: ESOPHAGEAL CANCER
gene_symbol: LZTS1
disease_id: OMIM:133239
disease_name: ESOPHAGEAL CANCER
gene_symbol: WWOX
disease_id: OMIM:133239
disease_name: ESOPHAGEAL CANCER
gene_symbol: EWSR1
disease_id: OMIM:612219
disease_name: EWING SARCOMA
gene_symbol: ACTB
disease_id: OMIM:620470
disease_name: CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY
gene_symbol: HDAC4
disease_id: OMIM:600430
disease_name: CHROMOSOME 2q37 DELETION SYNDROME
gene_symbol: SLC35A2
disease_id: OMIM:300896
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIm
gene_symbol: ADA
disease_id: OMIM:102700
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
gene_symbol: RHOA
disease_id: OMIM:618727
disease_name: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES
gene_symbol: BRIP1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: NQO2
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: PHB1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: HMMR
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: BARD1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: PPM1D
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: SLC67A1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: SLC67A1
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: RB1CC1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: ATM
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: ESR1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: XRCC3
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: RAD51
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: RAD54L
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: BRCA1
disease_id: OMIM:114480
disease_name: BREAST CANCER
gene_symbol: EXT1
disease_id: OMIM:215300
disease_name: CHONDROSARCOMA
gene_symbol: EGFR
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: PPP2R1B
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: ERCC6
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: MAP3K8
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: CYP2A6
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: FASLG
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: MTOR
disease_id: OMIM:607341
disease_name: FOCAL CORTICAL DYSPLASIA, TYPE II
gene_symbol: PIGA
disease_id: OMIM:300818
disease_name: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 1
gene_symbol: NR4A3
disease_id: OMIM:612237
disease_name: CHONDROSARCOMA, EXTRASKELETAL MYXOID
gene_symbol: TAF15
disease_id: OMIM:612237
disease_name: CHONDROSARCOMA, EXTRASKELETAL MYXOID
gene_symbol: ASPSCR1
disease_id: OMIM:606243
disease_name: ALVEOLAR SOFT PART SARCOMA
gene_symbol: CDC73
disease_id: OMIM:608266
disease_name: PARATHYROID CARCINOMA