Phenotype: Neoplasm of the genitourinary tract (HP:0007379)
Associated genes and diseases:
gene_symbol: NF2
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: SMARCB1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: COQ6
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: LZTR1
disease_id: ORPHA:93921
disease_name: Full schwannomatosis
Full NF3
Full SWN
Full neurofibromatosis type 3
Neurilemmomatosis
Nonmosaic schwannomatosis
gene_symbol: MSH3
disease_id: ORPHA:480536
disease_name: MSH3-related attenuated familial adenomatous polyposis
MSH3-related AFAP
MSH3-related attenuated FAP
MSH3-related attenuated familial polyposis coli
gene_symbol: MSH3
disease_id: OMIM:617100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 4
gene_symbol: POU6F2
disease_id: OMIM:601583
disease_name: WILMS TUMOR 5
gene_symbol: POU6F2
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: C1S
disease_id: OMIM:617174
disease_name: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
gene_symbol: FIBP
disease_id: ORPHA:500095
disease_name: Tall stature-intellectual disability-renal anomalies syndrome
Thauvin-Robinet-Faivre syndrome
gene_symbol: FIBP
disease_id: OMIM:617107
disease_name: THAUVIN-ROBINET-FAIVRE SYNDROME
gene_symbol: HDAC4
disease_id: ORPHA:1001
disease_name: 2q37 microdeletion syndrome
Albright hereditary osteodystrophy type 3
Albright hereditary osteodystrophy-like syndrome
Brachydactyly-intellectual disability syndrome
Del(2)(q37)
Deletion 2q37
Monosomy 2q37qter
gene_symbol: REST
disease_id: OMIM:616806
disease_name: WILMS TUMOR 6
gene_symbol: REST
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: EXT2
disease_id: ORPHA:52022
disease_name: Potocki-Shaffer syndrome
11p11.2 deletion
Proximal 11p deletion syndrome
gene_symbol: ALX4
disease_id: ORPHA:52022
disease_name: Potocki-Shaffer syndrome
11p11.2 deletion
Proximal 11p deletion syndrome
gene_symbol: PHF21A
disease_id: ORPHA:52022
disease_name: Potocki-Shaffer syndrome
11p11.2 deletion
Proximal 11p deletion syndrome
gene_symbol: CTR9
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: TRIM28
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: GPC3
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: GPC3
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC3
disease_id: OMIM:194070
disease_name: WILMS TUMOR 1
gene_symbol: H19
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: H19
disease_id: ORPHA:2128
disease_name: Isolated hemihyperplasia
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
gene_symbol: H19
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: H19
disease_id: OMIM:194070
disease_name: WILMS TUMOR 1
gene_symbol: IGF2
disease_id: ORPHA:2128
disease_name: Isolated hemihyperplasia
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
gene_symbol: IGF2
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: IGF2
disease_id: OMIM:180860
disease_name: SILVER-RUSSELL SYNDROME 1
gene_symbol: IGF2
disease_id: OMIM:194070
disease_name: WILMS TUMOR 1
gene_symbol: KCNQ1OT1
disease_id: ORPHA:2128
disease_name: Isolated hemihyperplasia
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
gene_symbol: KCNQ1OT1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: GPC4
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC4
disease_id: OMIM:194070
disease_name: WILMS TUMOR 1
gene_symbol: CDKN1C
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: KCNQ1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: PTCH1
disease_id: ORPHA:77301
disease_name: Monosomy 9q22.3 syndrome
Microdeletion 9q22.3
gene_symbol: ASXL1
disease_id: ORPHA:97297
disease_name: Bohring-Opitz syndrome
BOS syndrome
Bohring syndrome
C-like syndrome
Oberklaid-Danks syndrome
Opitz trigonocephaly-like syndrome
gene_symbol: TRIM37
disease_id: OMIM:253250
disease_name: MULIBREY NANISM
gene_symbol: SOX9
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: VAMP7
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: WWOX
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: MAP3K1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NR5A1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: DHX37
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: ZFPM2
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: NR0B1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: GATA4
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: PAX6
disease_id: OMIM:194072
disease_name: WILMS TUMOR, ANIRIDIA, GENITOURINARY ANOMALIES, AND MENTAL RETARDATION SYNDROME
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: ATP7A
disease_id: OMIM:304150
disease_name: OCCIPITAL HORN SYNDROME
gene_symbol: RNF43
disease_id: ORPHA:157798
disease_name: Serrated polyposis syndrome
Hyperplastic polyposis syndrome
gene_symbol: PRDM10
disease_id: ORPHA:122
disease_name: Birt-Hogg-Dubé syndrome
Hornstein-Knickenberg syndrome
gene_symbol: VHL
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: VHL
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: VHL
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
gene_symbol: VHL
disease_id: OMIM:144700
disease_name: RENAL CELL CARCINOMA, NONPAPILLARY
gene_symbol: CCND1
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: CCND1
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: CCND1
disease_id: OMIM:193300
disease_name: VON HIPPEL-LINDAU SYNDROME
gene_symbol: BUB1
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: BAX
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
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: DCC
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: AKT1
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: AKT1
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: BRAF
disease_id: OMIM:114500
disease_name: COLORECTAL 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: 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: PLA2G2A
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: CTNNB1
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: AURKA
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: NRAS
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: APC
disease_id: OMIM:114500
disease_name: COLORECTAL 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: SEC23B
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PTEN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHB
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHB
disease_id: OMIM:115310
disease_name: PARAGANGLIOMAS 4
gene_symbol: SDHB
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHD
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHD
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHC
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHC
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: USF3
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: TFE3
disease_id: OMIM:300854
disease_name: RENAL CELL CARCINOMA, Xp11-ASSOCIATED
gene_symbol: IFNG
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: IFNG
disease_id: ORPHA:805
disease_name: Tuberous sclerosis complex
Bourneville syndrome
Tuberous sclerosis
gene_symbol: ARMC5
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: KDM1A
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: GNAS
disease_id: ORPHA:189427
disease_name: Cushing syndrome due to bilateral macronodular adrenocortical disease
CS due to BMACD
CS due to BMAD
Cushing syndrome due to BMACD
Cushing syndrome due to BMAD
Cushing syndrome due to macronodular adrenal hyperplasia
Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia
gene_symbol: FH
disease_id: OMIM:150800
disease_name: HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
gene_symbol: FH
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: BAP1
disease_id: OMIM:614327
disease_name: TUMOR PREDISPOSITION SYNDROME
gene_symbol: DLST
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: MDH2
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: RET
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHA
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: KIF1B
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SLC25A11
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHAF2
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: TMEM127
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: NF1
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: MAX
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: PBRM1
disease_id: OMIM:144700
disease_name: RENAL CELL CARCINOMA, NONPAPILLARY
gene_symbol: HNF1A
disease_id: OMIM:144700
disease_name: RENAL CELL CARCINOMA, NONPAPILLARY
gene_symbol: OGG1
disease_id: OMIM:144700
disease_name: RENAL CELL CARCINOMA, NONPAPILLARY
gene_symbol: RNF139
disease_id: OMIM:144700
disease_name: RENAL CELL CARCINOMA, NONPAPILLARY
gene_symbol: HNF1B
disease_id: OMIM:144700
disease_name: RENAL CELL CARCINOMA, NONPAPILLARY
gene_symbol: HNF1B
disease_id: ORPHA:93111
disease_name: HNF1B-related autosomal dominant tubulointerstitial kidney disease
ADTKD-HNF1B
HNF1B-MODY
HNF1B-related nephropathy
MODY5
Maturity-onset diabetes of the young type 5
RCAD syndrome
Renal cysts and diabetes syndrome
Renal dysfunction-early-onset diabetes syndrome
gene_symbol: KEAP1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
gene_symbol: DICER1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
gene_symbol: COL14A1
disease_id: ORPHA:79501
disease_name: Punctate palmoplantar keratoderma type 1
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1
gene_symbol: AAGAB
disease_id: ORPHA:79501
disease_name: Punctate palmoplantar keratoderma type 1
Buschke-Fischer-Brauer syndrome
Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
PPKP1
gene_symbol: CDC73
disease_id: OMIM:145001
disease_name: HYPERPARATHYROIDISM 2 WITH JAW TUMORS
gene_symbol: MLH1
disease_id: OMIM:158320
disease_name: MUIR-TORRE SYNDROME
gene_symbol: MLH1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH2
disease_id: OMIM:158320
disease_name: MUIR-TORRE SYNDROME
gene_symbol: MSH2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: EPCAM
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PMS2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: TGFBR2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: KRAS
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH6
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PMS1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: RPL15
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS20
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL8
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS19
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: HEATR3
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL31
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS7
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL27
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS28
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL11
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS24
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL5
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS10
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: GATA1
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL9
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL35
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS17
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL26
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS15A
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: TSR2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPL18
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: RPS29
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: ADA2
disease_id: ORPHA:124
disease_name: Diamond-Blackfan anemia
Congenital PRCA
Congenital pure red cell aplasia
Diamond-Blackfan anemia syndrome
gene_symbol: HABP2
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
gene_symbol: MINPP1
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
gene_symbol: MET
disease_id: OMIM:605074
disease_name: RENAL CELL CARCINOMA, PAPILLARY, 1
gene_symbol: PRCC
disease_id: OMIM:605074
disease_name: RENAL CELL CARCINOMA, PAPILLARY, 1
gene_symbol: NOD2
disease_id: ORPHA:90340
disease_name: Blau syndrome
gene_symbol: MVK
disease_id: OMIM:260920
disease_name: HYPER-IgD SYNDROME
gene_symbol: ERBB2
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: CDH1
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: OPCML
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: PRKN
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: BMPER
disease_id: OMIM:608022
disease_name: DIAPHANOSPONDYLODYSOSTOSIS
gene_symbol: DIS3L2
disease_id: OMIM:267000
disease_name: PERLMAN SYNDROME
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: NTHL1
disease_id: OMIM:616415
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 3
gene_symbol: NTHL1
disease_id: ORPHA:454840
disease_name: NTHL1-related attenuated familial adenomatous polyposis
NTHL1-related AFAP
NTHL1-related attenuated FAP
gene_symbol: RB1
disease_id: OMIM:109800
disease_name: BLADDER CANCER
gene_symbol: FGFR3
disease_id: OMIM:109800
disease_name: BLADDER CANCER
gene_symbol: HRAS
disease_id: OMIM:109800
disease_name: BLADDER CANCER
gene_symbol: B3GALT6
disease_id: ORPHA:536467
disease_name: B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
B3GALT6-related spEDS
B3GALT6-related spondylodysplastic EDS
Beta3GalT6-deficient EDS
Ehlers-Danlos syndrome progeroid type 2
spEDS-B3GALT6
gene_symbol: FLCN
disease_id: OMIM:135150
disease_name: BIRT-HOGG-DUBE SYNDROME
gene_symbol: KLLN
disease_id: OMIM:615107
disease_name: COWDEN SYNDROME 4
gene_symbol: TSC1
disease_id: ORPHA:538
disease_name: Lymphangioleiomyomatosis
LAM
gene_symbol: TSC2
disease_id: ORPHA:538
disease_name: Lymphangioleiomyomatosis
LAM
gene_symbol: LMNA
disease_id: ORPHA:79474
disease_name: Atypical Werner syndrome
Atypical progeroid syndrome
gene_symbol: WRN
disease_id: ORPHA:902
disease_name: Werner syndrome
Adult progeria
WS
gene_symbol: TP53
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: CDKN2A
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: MDM2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: BCL10
disease_id: OMIM:273300
disease_name: TESTICULAR GERM CELL TUMOR
gene_symbol: KIT
disease_id: OMIM:273300
disease_name: TESTICULAR GERM CELL TUMOR
gene_symbol: PTCH2
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: SUFU
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: COL4A6
disease_id: ORPHA:1018
disease_name: X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome
gene_symbol: COL4A5
disease_id: ORPHA:1018
disease_name: X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: SEMA4A
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: ATM
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: NPAT
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: POLE
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: BRCA2
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: BMPR1A
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: MUTYH
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: POLD1
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: CHEK2
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: NAB2
disease_id: ORPHA:2126
disease_name: Solitary fibrous tumor
SFT
gene_symbol: STAT6
disease_id: ORPHA:2126
disease_name: Solitary fibrous tumor
SFT
gene_symbol: KANSL1
disease_id: ORPHA:363965
disease_name: Koolen-De Vries syndrome due to a point mutation
gene_symbol: KANSL1
disease_id: ORPHA:363958
disease_name: 17q21.31 microdeletion syndrome
Del(17)(q21.31)
Monosomy 17q21.31
gene_symbol: EWSR1
disease_id: ORPHA:83469
disease_name: Desmoplastic small round cell tumor
DSRCT
gene_symbol: WT1
disease_id: ORPHA:83469
disease_name: Desmoplastic small round cell tumor
DSRCT
gene_symbol: STS
disease_id: OMIM:308100
disease_name: ICHTHYOSIS, X-LINKED
gene_symbol: AR
disease_id: ORPHA:99429
disease_name: Complete androgen insensitivity syndrome
CAIS
Complete androgen resistance syndrome
gene_symbol: SLC6A17
disease_id: ORPHA:457212
disease_name: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
gene_symbol: EPHB2
disease_id: OMIM:603688
disease_name: PROSTATE CANCER/BRAIN CANCER SUSCEPTIBILITY
gene_symbol: ZFHX3
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: MXI1
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: KLF6
disease_id: OMIM:176807
disease_name: PROSTATE CANCER
gene_symbol: RNASEL
disease_id: OMIM:601518
disease_name: PROSTATE CANCER, HEREDITARY, 1
gene_symbol: GREM1
disease_id: ORPHA:157794
disease_name: Hereditary mixed polyposis syndrome
HMPS
gene_symbol: RABL3
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: SMAD4
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: PALLD
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: MRAP
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: STAR
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: MC2R
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: NNT
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: TXNRD2
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: CYP11B1
disease_id: ORPHA:90795
disease_name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
CAH due to 11-beta-hydroxylase deficiency
CYP11B1 deficiency
gene_symbol: SRY
disease_id: ORPHA:1772
disease_name: 45,X/46,XY mixed gonadal dysgenesis
45,X/46,XY MGD
45,X0/46,XY MGD
45,X0/46,XY mixed gonadal dysgenesis
gene_symbol: STK11
disease_id: ORPHA:2869
disease_name: Peutz-Jeghers syndrome
Hamartomatous intestinal polyposis
PJS
gene_symbol: CXCR4
disease_id: ORPHA:51636
disease_name: WHIM syndrome
WILM
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-infections-leukopenia-myelokatexis syndrome
gene_symbol: MAD1L1
disease_id: OMIM:620189
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION
gene_symbol: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
gene_symbol: DOCK8
disease_id: ORPHA:217390
disease_name: Combined immunodeficiency due to DOCK8 deficiency
CID due to DOCK8 deficiency
Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
DOCK8 immunodeficiency syndrome
gene_symbol: MNX1
disease_id: ORPHA:1552
disease_name: Currarino syndrome
Currarino triad
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: MBD4
disease_id: OMIM:619975
disease_name: TUMOR PREDISPOSITION SYNDROME 2
gene_symbol: GATA2
disease_id: OMIM:614172
disease_name: IMMUNODEFICIENCY 21
gene_symbol: SMARCA4
disease_id: OMIM:613325
disease_name: RHABDOID TUMOR PREDISPOSITION SYNDROME 2
gene_symbol: FERMT1
disease_id: ORPHA:2908
disease_name: Kindler epidermolysis bullosa
Congenital bullous poikiloderma
Kindler syndrome
Poikiloderma of Kindler
gene_symbol: BRCA1
disease_id: OMIM:604370
disease_name: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
gene_symbol: BRCA1
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: BRCA1
disease_id: OMIM:617883
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP S
gene_symbol: RAD51D
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: RAD50
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: BARD1
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: RAD51
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: NBN
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: RAD51C
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: BRIP1
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: MRE11
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: PALB2
disease_id: ORPHA:145
disease_name: Hereditary breast and/or ovarian cancer syndrome
gene_symbol: WNT10A
disease_id: ORPHA:50944
disease_name: Schöpf-Schulz-Passarge syndrome
Eccrine tumors-ectodermal dysplasia
Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome
Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome
Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome
SSPS
gene_symbol: FOXE1
disease_id: OMIM:616534
disease_name: THYROID CANCER, NONMEDULLARY, 4
gene_symbol: ZFTA
disease_id: ORPHA:251636
disease_name: Ependymoma
Classic ependymoma
gene_symbol: IDH2
disease_id: ORPHA:163634
disease_name: Maffucci syndrome
Enchondromatosis Spranger type II
Multiple Enchondromatosis type II
Multiple Enchondromatosis, Maffucci Type
gene_symbol: IDH1
disease_id: ORPHA:163634
disease_name: Maffucci syndrome
Enchondromatosis Spranger type II
Multiple Enchondromatosis type II
Multiple Enchondromatosis, Maffucci Type
gene_symbol: STAG3
disease_id: OMIM:615723
disease_name: PREMATURE OVARIAN FAILURE 8
gene_symbol: SPRED1
disease_id: ORPHA:137605
disease_name: Legius syndrome
NF1-like syndrome
Neurofibromatosis 1-like syndrome
Nonmosaic LGSS
Nonmosaic Legius syndrome
gene_symbol: FLI1
disease_id: ORPHA:370348
disease_name: Peripheral primitive neuroectodermal tumor
PPNET
Peripheral PNET
Peripheral neuroepithelioma
gene_symbol: FGFR2
disease_id: OMIM:123500
disease_name: CROUZON SYNDROME
gene_symbol: DHH
disease_id: OMIM:233420
disease_name: 46,XY SEX REVERSAL 7
gene_symbol: BUB3
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: CEP57
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
gene_symbol: TRIP13
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome