Phenotype: Inheritance qualifier (HP:0034335)
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
gene_symbol: KANSL1
disease_id: OMIM:610443
disease_name: KOOLEN-DE VRIES SYNDROME
gene_symbol: FIGLA
disease_id: OMIM:612310
disease_name: PREMATURE OVARIAN FAILURE 6
gene_symbol: LHCGR
disease_id: OMIM:176410
disease_name: PRECOCIOUS PUBERTY, MALE-LIMITED
gene_symbol: NR5A1
disease_id: OMIM:612964
disease_name: PREMATURE OVARIAN FAILURE 7
gene_symbol: NR5A1
disease_id: OMIM:612965
disease_name: 46,XY SEX REVERSAL 3
gene_symbol: CACNA1A
disease_id: OMIM:183086
disease_name: SPINOCEREBELLAR ATAXIA 6
gene_symbol: ATXN3
disease_id: OMIM:109150
disease_name: MACHADO-JOSEPH DISEASE
gene_symbol: ATN1
disease_id: OMIM:125370
disease_name: DENTATORUBRAL-PALLIDOLUYSIAN ATROPHY
gene_symbol: SPAST
disease_id: OMIM:182601
disease_name: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT
gene_symbol: ATXN10
disease_id: OMIM:603516
disease_name: SPINOCEREBELLAR ATAXIA 10
gene_symbol: ATXN2
disease_id: OMIM:183090
disease_name: SPINOCEREBELLAR ATAXIA 2
gene_symbol: ATXN1
disease_id: OMIM:164400
disease_name: SPINOCEREBELLAR ATAXIA 1
gene_symbol: ATXN7
disease_id: OMIM:164500
disease_name: SPINOCEREBELLAR ATAXIA 7
gene_symbol: PRPF31
disease_id: OMIM:600138
disease_name: RETINITIS PIGMENTOSA 11
gene_symbol: SLC12A5
disease_id: OMIM:616685
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 14
gene_symbol: EYA1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: EYA1
disease_id: OMIM:602588
disease_name: BRANCHIOOTIC SYNDROME 1
gene_symbol: SIX1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: SDHB
disease_id: OMIM:115310
disease_name: PARAGANGLIOMAS 4
gene_symbol: PROKR2
disease_id: OMIM:244200
disease_name: HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA
gene_symbol: KLF13
disease_id: OMIM:612001
disease_name: CHROMOSOME 15q13.3 DELETION SYNDROME
gene_symbol: CHRNA7
disease_id: OMIM:612001
disease_name: CHROMOSOME 15q13.3 DELETION SYNDROME
gene_symbol: TRPV4
disease_id: OMIM:606071
disease_name: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
gene_symbol: TRPV4
disease_id: OMIM:600175
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIII
gene_symbol: TRPV4
disease_id: OMIM:181405
disease_name: SCAPULOPERONEAL SPINAL MUSCULAR ATROPHY
gene_symbol: SLC2A1
disease_id: OMIM:612126
disease_name: GLUT1 DEFICIENCY SYNDROME 2
gene_symbol: SLC2A1
disease_id: OMIM:614847
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 12
gene_symbol: CACNB4
disease_id: OMIM:613855
disease_name: EPISODIC ATAXIA, TYPE 5
gene_symbol: VMA21
disease_id: OMIM:310440
disease_name: MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY
gene_symbol: GABRG2
disease_id: OMIM:607681
disease_name: FEBRILE SEIZURES, FAMILIAL, 8
gene_symbol: ATP1A3
disease_id: OMIM:128235
disease_name: DYSTONIA 12
gene_symbol: PROK2
disease_id: OMIM:610628
disease_name: HYPOGONADOTROPIC HYPOGONADISM 4 WITH OR WITHOUT ANOSMIA
gene_symbol: DLST
disease_id: OMIM:618475
disease_name: PARAGANGLIOMAS 7
gene_symbol: RORB
disease_id: OMIM:618357
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15
gene_symbol: EPHB4
disease_id: OMIM:618196
disease_name: CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 2
gene_symbol: INAVA
disease_id: OMIM:618077
disease_name: INFLAMMATORY BOWEL DISEASE 29
gene_symbol: CDH23
disease_id: OMIM:617540
disease_name: PITUITARY ADENOMA 5, MULTIPLE TYPES
gene_symbol: CHRNA2
disease_id: OMIM:610353
disease_name: EPILEPSY, NOCTURNAL FRONTAL LOBE, 4
gene_symbol: TENM4
disease_id: OMIM:616736
disease_name: TREMOR, HEREDITARY ESSENTIAL, 5
gene_symbol: LRSAM1
disease_id: OMIM:614436
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P
gene_symbol: CFC1
disease_id: OMIM:605376
disease_name: HETEROTAXY, VISCERAL, 2, AUTOSOMAL
gene_symbol: CRELD1
disease_id: OMIM:606217
disease_name: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2
gene_symbol: WNT10B
disease_id: OMIM:225300
disease_name: SPLIT-HAND/FOOT MALFORMATION 6
gene_symbol: PDCD10
disease_id: OMIM:116860
disease_name: CEREBRAL CAVERNOUS MALFORMATIONS
gene_symbol: KRIT1
disease_id: OMIM:116860
disease_name: CEREBRAL CAVERNOUS MALFORMATIONS
gene_symbol: CCM2
disease_id: OMIM:116860
disease_name: CEREBRAL CAVERNOUS MALFORMATIONS
gene_symbol: CHRNA4
disease_id: OMIM:600513
disease_name: EPILEPSY, NOCTURNAL FRONTAL LOBE, 1
gene_symbol: HCN1
disease_id: OMIM:618482
disease_name: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10
gene_symbol: CTLA4
disease_id: OMIM:616100
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V
gene_symbol: NRL
disease_id: OMIM:613750
disease_name: RETINITIS PIGMENTOSA 27
gene_symbol: GABRB3
disease_id: OMIM:612269
disease_name: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5
gene_symbol: PRKCG
disease_id: OMIM:605361
disease_name: SPINOCEREBELLAR ATAXIA 14
gene_symbol: DSTYK
disease_id: OMIM:610805
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1
gene_symbol: CLCN2
disease_id: OMIM:605635
disease_name: HYPERALDOSTERONISM, FAMILIAL, TYPE II
gene_symbol: SHH
disease_id: OMIM:142945
disease_name: HOLOPROSENCEPHALY 3
gene_symbol: SHH
disease_id: OMIM:611638
disease_name: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 5
gene_symbol: DCX
disease_id: OMIM:300067
disease_name: LISSENCEPHALY, X-LINKED, 1
gene_symbol: GJC2
disease_id: OMIM:613480
disease_name: LYMPHATIC MALFORMATION 3
gene_symbol: TGFBR1
disease_id: OMIM:132800
disease_name: MULTIPLE SELF-HEALING SQUAMOUS EPITHELIOMA, SUSCEPTIBILITY TO
gene_symbol: KMT2B
disease_id: OMIM:617284
disease_name: DYSTONIA 28, CHILDHOOD-ONSET
gene_symbol: BMPR2
disease_id: OMIM:178600
disease_name: PULMONARY HYPERTENSION, PRIMARY, 1
gene_symbol: DDX41
disease_id: OMIM:616871
disease_name: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
gene_symbol: GJB1
disease_id: OMIM:302800
disease_name: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1
gene_symbol: FMR1
disease_id: OMIM:300624
disease_name: FRAGILE X SYNDROME
gene_symbol: TLR3
disease_id: OMIM:613002
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 2
gene_symbol: IKZF1
disease_id: OMIM:616873
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 13
gene_symbol: TICAM1
disease_id: OMIM:614850
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 6
gene_symbol: OTULIN
disease_id: OMIM:619986
disease_name: IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION
gene_symbol: UCHL1
disease_id: OMIM:613643
disease_name: PARKINSON DISEASE 5, AUTOSOMAL DOMINANT, SUSCEPTIBILITY TO
gene_symbol: PRRT2
disease_id: OMIM:605751
disease_name: SEIZURES, BENIGN FAMILIAL INFANTILE, 2
gene_symbol: PRRT2
disease_id: OMIM:128200
disease_name: EPISODIC KINESIGENIC DYSKINESIA 1
gene_symbol: ATP1A2
disease_id: OMIM:602481
disease_name: MIGRAINE, FAMILIAL HEMIPLEGIC, 2
gene_symbol: PRPF8
disease_id: OMIM:600059
disease_name: RETINITIS PIGMENTOSA 13
gene_symbol: TTN
disease_id: OMIM:600334
disease_name: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
gene_symbol: PKD2
disease_id: OMIM:613095
disease_name: POLYCYSTIC KIDNEY DISEASE 2 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
gene_symbol: VWF
disease_id: OMIM:193400
disease_name: VON WILLEBRAND DISEASE, TYPE 1
gene_symbol: GRIN2A
disease_id: OMIM:245570
disease_name: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
gene_symbol: ANO3
disease_id: OMIM:615034
disease_name: DYSTONIA 24
gene_symbol: CACNA1S
disease_id: OMIM:170400
disease_name: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
gene_symbol: SCN4A
disease_id: OMIM:170400
disease_name: HYPOKALEMIC PERIODIC PARALYSIS, TYPE 1
gene_symbol: PAX2
disease_id: OMIM:616002
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 7
gene_symbol: LZTR1
disease_id: OMIM:615670
disease_name: SCHWANNOMATOSIS 2
gene_symbol: TM4SF20
disease_id: OMIM:615432
disease_name: SPECIFIC LANGUAGE IMPAIRMENT 5
gene_symbol: MFN2
disease_id: OMIM:609260
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A
gene_symbol: USP48
disease_id: OMIM:620227
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 85
gene_symbol: TERC
disease_id: OMIM:614743
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
gene_symbol: COL4A1
disease_id: OMIM:175780
disease_name: BRAIN SMALL VESSEL DISEASE 1 WITH OR WITHOUT OCULAR ANOMALIES
gene_symbol: ERBB3
disease_id: OMIM:133180
disease_name: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO
gene_symbol: OPA1
disease_id: OMIM:165500
disease_name: OPTIC ATROPHY 1
gene_symbol: PTCH1
disease_id: OMIM:610828
disease_name: HOLOPROSENCEPHALY 7
gene_symbol: GLI2
disease_id: OMIM:610829
disease_name: HOLOPROSENCEPHALY 9
gene_symbol: GLI2
disease_id: OMIM:615849
disease_name: CULLER-JONES SYNDROME
gene_symbol: NRIP1
disease_id: OMIM:618270
disease_name: CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3
gene_symbol: ACTN4
disease_id: OMIM:603278
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1
gene_symbol: RTEL1
disease_id: OMIM:616373
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
gene_symbol: PARN
disease_id: OMIM:616371
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4
gene_symbol: THAP1
disease_id: OMIM:602629
disease_name: DYSTONIA 6, TORSION
gene_symbol: FOXE3
disease_id: OMIM:617349
disease_name: AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO
gene_symbol: IFIH1
disease_id: OMIM:615846
disease_name: AICARDI-GOUTIERES SYNDROME 7
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: NLRP12
disease_id: OMIM:611762
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2
gene_symbol: TBK1
disease_id: OMIM:617900
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8
gene_symbol: DEPDC5
disease_id: OMIM:604364
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
gene_symbol: RBM12
disease_id: OMIM:617629
disease_name: SCHIZOPHRENIA 19
gene_symbol: ELOVL4
disease_id: OMIM:133190
disease_name: SPINOCEREBELLAR ATAXIA 34
gene_symbol: POT1
disease_id: OMIM:615848
disease_name: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10
gene_symbol: DLX5
disease_id: OMIM:183600
disease_name: SPLIT-HAND/FOOT MALFORMATION 1
gene_symbol: COL4A2
disease_id: OMIM:614483
disease_name: BRAIN SMALL VESSEL DISEASE 2
gene_symbol: NPRL3
disease_id: OMIM:617118
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3
gene_symbol: LRRK2
disease_id: OMIM:607060
disease_name: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
gene_symbol: LRP5
disease_id: OMIM:617875
disease_name: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS
gene_symbol: NPRL2
disease_id: OMIM:617116
disease_name: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2
gene_symbol: GATA5
disease_id: OMIM:617912
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5
gene_symbol: TMEM151A
disease_id: OMIM:620245
disease_name: EPISODIC KINESIGENIC DYSKINESIA 3
gene_symbol: ATL1
disease_id: OMIM:182600
disease_name: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
gene_symbol: MNX1
disease_id: OMIM:176450
disease_name: CURRARINO SYNDROME
gene_symbol: SCN1B
disease_id: OMIM:604233
disease_name: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
gene_symbol: CPOX
disease_id: OMIM:121300
disease_name: COPROPORPHYRIA, HEREDITARY
gene_symbol: SMARCC1
disease_id: OMIM:620241
disease_name: HYDROCEPHALUS, CONGENITAL, 5, SUSCEPTIBILITY TO
gene_symbol: SIX3
disease_id: OMIM:157170
disease_name: HOLOPROSENCEPHALY 2
gene_symbol: RANBP2
disease_id: OMIM:608033
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3
gene_symbol: NTN1
disease_id: OMIM:157600
disease_name: MIRROR MOVEMENTS 1
gene_symbol: PITX1
disease_id: OMIM:119800
disease_name: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY
gene_symbol: SMAD9
disease_id: OMIM:615342
disease_name: PULMONARY HYPERTENSION, PRIMARY, 2
gene_symbol: KIF11
disease_id: OMIM:152950
disease_name: MICROCEPHALY WITH OR WITHOUT CHORIORETINOPATHY, LYMPHEDEMA, OR MENTAL RETARDATION
gene_symbol: CAV1
disease_id: OMIM:615343
disease_name: PULMONARY HYPERTENSION, PRIMARY, 3
gene_symbol: STAT1
disease_id: OMIM:614892
disease_name: IMMUNODEFICIENCY 31A
gene_symbol: SGCE
disease_id: OMIM:159900
disease_name: DYSTONIA 11, MYOCLONIC
gene_symbol: RELN
disease_id: OMIM:616436
disease_name: EPILEPSY, FAMILIAL TEMPORAL LOBE, 7
gene_symbol: KIF5A
disease_id: OMIM:617921
disease_name: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 25
gene_symbol: GJA8
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: GJA5
disease_id: OMIM:612474
disease_name: CHROMOSOME 1q21.1 DELETION SYNDROME, 1.35-MB
gene_symbol: FH
disease_id: OMIM:150800
disease_name: HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
gene_symbol: CILK1
disease_id: OMIM:617924
disease_name: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10
gene_symbol: FGF23
disease_id: OMIM:193100
disease_name: HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL DOMINANT
gene_symbol: MT-ND1
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND2
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND4
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-CO3
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-CYB
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ATP6
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND5
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND6
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: MT-ND4L
disease_id: OMIM:535000
disease_name: LEBER OPTIC ATROPHY
gene_symbol: GREB1L
disease_id: OMIM:617805
disease_name: RENAL HYPODYSPLASIA/APLASIA 3
gene_symbol: TOR1A
disease_id: OMIM:128100
disease_name: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
gene_symbol: HNRNPDL
disease_id: OMIM:609115
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 3
gene_symbol: RPS29
disease_id: OMIM:615909
disease_name: DIAMOND-BLACKFAN ANEMIA 13
gene_symbol: SMARCE1
disease_id: OMIM:607174
disease_name: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
gene_symbol: MN1
disease_id: OMIM:607174
disease_name: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
gene_symbol: NF2
disease_id: OMIM:607174
disease_name: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
gene_symbol: PDGFB
disease_id: OMIM:607174
disease_name: MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO
gene_symbol: RP1L1
disease_id: OMIM:613587
disease_name: OCCULT MACULAR DYSTROPHY
gene_symbol: GUCY2D
disease_id: OMIM:601777
disease_name: CONE-ROD DYSTROPHY 6
gene_symbol: DZIP1
disease_id: OMIM:610840
disease_name: MITRAL VALVE PROLAPSE 3
gene_symbol: DCHS1
disease_id: OMIM:607829
disease_name: MITRAL VALVE PROLAPSE 2
gene_symbol: MKRN3
disease_id: OMIM:615346
disease_name: PRECOCIOUS PUBERTY, CENTRAL, 2
gene_symbol: KANK1
disease_id: OMIM:612900
disease_name: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2
gene_symbol: PIK3R2
disease_id: OMIM:603387
disease_name: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1
gene_symbol: ATP11A
disease_id: OMIM:619851
disease_name: LEUKODYSTROPHY, HYPOMYELINATING, 24
gene_symbol: MAPK1
disease_id: OMIM:619087
disease_name: NOONAN SYNDROME 13
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
gene_symbol: SEMA6B
disease_id: OMIM:618876
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 11
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: KMT2C
disease_id: OMIM:617768
disease_name: KLEEFSTRA SYNDROME 2
gene_symbol: EIF2AK1
disease_id: OMIM:618878
disease_name: LEUKOENCEPHALOPATHY, MOTOR DELAY, SPASTICITY, AND DYSARTHRIA SYNDROME
gene_symbol: POLR2A
disease_id: OMIM:618603
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES
gene_symbol: ZBTB7A
disease_id: OMIM:619769
disease_name: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN
gene_symbol: SRD5A2
disease_id: OMIM:264600
disease_name: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS
gene_symbol: POF1B
disease_id: OMIM:300604
disease_name: PREMATURE OVARIAN FAILURE 2B
gene_symbol: SMAD6
disease_id: OMIM:614823
disease_name: AORTIC VALVE DISEASE 2