Phenotype: Renal neoplasm (HP:0009726)
Associated genes and diseases:
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: WT1
disease_id: ORPHA:347
disease_name: Frasier syndrome
gene_symbol: WT1
disease_id: ORPHA:220
disease_name: Denys-Drash syndrome
Drash syndrome
Wilms tumor-DSD syndrome
Wilms tumor-disorder of sex development syndrome
gene_symbol: WT1
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: WT1
disease_id: OMIM:256370
disease_name: NEPHROTIC SYNDROME, TYPE 4
gene_symbol: WT1
disease_id: OMIM:194080
disease_name: DENYS-DRASH SYNDROME
gene_symbol: WT1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
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: 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: PALB2
disease_id: OMIM:610832
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP N
gene_symbol: CTR9
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: TRIP13
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: TRIP13
disease_id: OMIM:617598
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3
gene_symbol: TRIP13
disease_id: ORPHA:1052
disease_name: Mosaic variegated aneuploidy syndrome
Warburton-Anyane-Yeboa syndrome
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: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
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: 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: 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: SRY
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: SPRED1
disease_id: ORPHA:137605
disease_name: Legius syndrome
NF1-like syndrome
Neurofibromatosis 1-like syndrome
Nonmosaic LGSS
Nonmosaic Legius syndrome
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: 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: FGFR3
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: STK11
disease_id: ORPHA:2869
disease_name: Peutz-Jeghers syndrome
Hamartomatous intestinal polyposis
PJS
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: FOXE1
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
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: CDKN1B
disease_id: OMIM:610755
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
gene_symbol: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
gene_symbol: BMPER
disease_id: OMIM:608022
disease_name: DIAPHANOSPONDYLODYSOSTOSIS
gene_symbol: DIS3L2
disease_id: OMIM:267000
disease_name: PERLMAN 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: RPS20
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: CHEK2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: EPCAM
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MLH1
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: MSH2
disease_id: ORPHA:144
disease_name: Lynch syndrome
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: HRAS
disease_id: ORPHA:2874
disease_name: Phakomatosis pigmentokeratotica
gene_symbol: SMARCA4
disease_id: OMIM:613325
disease_name: RHABDOID TUMOR PREDISPOSITION SYNDROME 2