TaoMedAI/RareMedData huggingface dataset:
Phenotype: Medullary thyroid carcinoma (HP:0002865)
Associated genes and diseases:
gene_symbol: PRDM10
disease_id: ORPHA:122
disease_name: Birt-Hogg-Dubé syndrome
Hornstein-Knickenberg syndrome
gene_symbol: FLCN
disease_id: ORPHA:122
disease_name: Birt-Hogg-Dubé syndrome
Hornstein-Knickenberg syndrome
gene_symbol: RET
disease_id: OMIM:162300
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
gene_symbol: RET
disease_id: OMIM:155240
disease_name: THYROID CARCINOMA, FAMILIAL MEDULLARY
gene_symbol: RET
disease_id: OMIM:171400
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
gene_symbol: NTRK1
disease_id: OMIM:155240
disease_name: THYROID CARCINOMA, FAMILIAL MEDULLARY
Phenotype: Narrow iliac wing (HP:0002868)
Associated genes and diseases:
gene_symbol: RPS6KA3
disease_id: OMIM:303600
disease_name: COFFIN-LOWRY SYNDROME
gene_symbol: RPS6KA3
disease_id: ORPHA:192
disease_name: Coffin-Lowry syndrome
CLS
gene_symbol: ZBTB20
disease_id: OMIM:259050
disease_name: PRIMROSE SYNDROME
gene_symbol: ZBTB20
disease_id: ORPHA:3042
disease_name: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Primrose syndrome
gene_symbol: SEC23A
disease_id: OMIM:607812
disease_name: CRANIOLENTICULOSUTURAL DYSPLASIA
gene_symbol: SEC24D
disease_id: OMIM:616294
disease_name: COLE-CARPENTER SYNDROME 2
gene_symbol: CTSK
disease_id: OMIM:265800
disease_name: PYCNODYSOSTOSIS
gene_symbol: EIF2AK3
disease_id: OMIM:226980
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS
gene_symbol: COL2A1
disease_id: OMIM:609162
disease_name: CZECH DYSPLASIA
gene_symbol: NANS
disease_id: OMIM:610442
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
gene_symbol: SOX9
disease_id: OMIM:114290
disease_name: CAMPOMELIC DYSPLASIA
gene_symbol: PEX5
disease_id: OMIM:616716
disease_name: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
Phenotype: Flared iliac wing (HP:0002869)
Associated genes and diseases:
gene_symbol: DDR2
disease_id: OMIM:271665
disease_name: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
gene_symbol: MMP13
disease_id: OMIM:602111
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE
gene_symbol: TRPV4
disease_id: OMIM:184252
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
gene_symbol: TRPV4
disease_id: ORPHA:93314
disease_name: Spondylometaphyseal dysplasia, Kozlowski type
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
gene_symbol: GNPTG
disease_id: OMIM:252605
disease_name: MUCOLIPIDOSIS III GAMMA
gene_symbol: AIFM1
disease_id: OMIM:300232
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED, WITH HYPOMYELINATING LEUKODYSTROPHY
gene_symbol: PHEX
disease_id: ORPHA:89936
disease_name: X-linked hypophosphatemia
X-linked hypophosphatemic rickets
XLH
gene_symbol: IHH
disease_id: ORPHA:63446
disease_name: Acrocapitofemoral dysplasia
gene_symbol: IHH
disease_id: OMIM:607778
disease_name: ACROCAPITOFEMORAL DYSPLASIA
gene_symbol: EP300
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: CREBBP
disease_id: OMIM:180849
disease_name: RUBINSTEIN-TAYBI SYNDROME 1
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI
gene_symbol: BGN
disease_id: OMIM:300106
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
gene_symbol: TRIP11
disease_id: OMIM:184260
disease_name: ODONTOCHONDRODYSPLASIA 1
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: GLB1
disease_id: OMIM:230650
disease_name: GM1-GANGLIOSIDOSIS, TYPE III
gene_symbol: GLB1
disease_id: ORPHA:79255
disease_name: GM1 gangliosidosis type 1
Infantile GM1 gangliosidosis
Norman-Landing disease
gene_symbol: VPS33A
disease_id: OMIM:617303
disease_name: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
gene_symbol: GPC3
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: GPC4
disease_id: OMIM:312870
disease_name: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
gene_symbol: IDUA
disease_id: OMIM:607014
disease_name: HURLER SYNDROME
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: FLNA
disease_id: ORPHA:90652
disease_name: Otopalatodigital syndrome type 2
OPD II syndrome
OPD syndrome 2
gene_symbol: GPX4
disease_id: OMIM:250220
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE
gene_symbol: B3GALT6
disease_id: OMIM:271640
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
Phenotype: Apneic episodes precipitated by illness, fatigue, stress (HP:0002872)
Associated genes and diseases:
gene_symbol: CHAT
disease_id: OMIM:254210
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC
gene_symbol: CHAT
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC5A7
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: MYO9A
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: COL13A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC25A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: VAMP1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SYT2
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC18A3
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SNAP25
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: CHRNE
disease_id: OMIM:605809
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
gene_symbol: PDHA1
disease_id: OMIM:312170
disease_name: PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated genes and diseases:
gene_symbol: HNRNPK
disease_id: ORPHA:453504
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
gene_symbol: HNRNPK
disease_id: ORPHA:352665
disease_name: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
9q21.3 microdeletion syndrome
Del(9)(q21.3)
gene_symbol: SELENON
disease_id: OMIM:602771
disease_name: RIGID SPINE MUSCULAR DYSTROPHY 1
gene_symbol: SELENON
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: MYH7
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: TTN
disease_id: ORPHA:324604
disease_name: Classic multiminicore myopathy
Classic MmD
Classic multiminicore disease
gene_symbol: TTN
disease_id: OMIM:603689
disease_name: MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE
gene_symbol: DNAJB4
disease_id: OMIM:620326
disease_name: CONGENITAL MYOPATHY 21 WITH EARLY RESPIRATORY FAILURE
gene_symbol: ACTA1
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: TPM2
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: NEB
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: KLHL41
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: LMOD3
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: CFL2
disease_id: ORPHA:171436
disease_name: Typical nemaline myopathy
gene_symbol: COL12A1
disease_id: OMIM:616470
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2
gene_symbol: COL6A1
disease_id: OMIM:254090
disease_name: ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1
gene_symbol: SLC52A3
disease_id: OMIM:211530
disease_name: BROWN-VIALETTO-VAN LAERE SYNDROME 1
gene_symbol: FKRP
disease_id: OMIM:607155
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 5
gene_symbol: PHOX2B
disease_id: OMIM:209880
disease_name: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
Phenotype: Anisospondyly (HP:0002879)
Associated genes and diseases:
gene_symbol: COL2A1
disease_id: ORPHA:85198
disease_name: Dysspondyloenchondromatosis
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
gene_symbol: FLNA
disease_id: ORPHA:2484
disease_name: Melnick-Needles syndrome
Melnick-Needles osteodysplasty
gene_symbol: HSPG2
disease_id: OMIM:224410
disease_name: DYSSEGMENTAL DYSPLASIA, SILVERMAN-HANDMAKER TYPE
gene_symbol: HSPG2
disease_id: ORPHA:1865
disease_name: Dyssegmental dysplasia, Silverman-Handmaker type
Phenotype: Sudden episodic apnea (HP:0002882)
Associated genes and diseases:
gene_symbol: CHAT
disease_id: OMIM:254210
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC
gene_symbol: CHAT
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: CDKL5
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: NTNG1
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: GABBR2
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: MECP2
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: SMC1A
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: SLC5A7
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: MYO9A
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: COL13A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC25A1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: VAMP1
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SYT2
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SLC18A3
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: SNAP25
disease_id: ORPHA:98914
disease_name: Presynaptic congenital myasthenic syndromes
gene_symbol: CHRNE
disease_id: OMIM:605809
disease_name: MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL
gene_symbol: SLC39A8
disease_id: ORPHA:468699
disease_name: SLC39A8-CDG
CDG syndrome type IIn
CDG-IIn
CDG2N
Carbohydrate deficient glycoprotein syndrome type IIn
Congenital disorder of glycosylation type 2n
Congenital disorder of glycosylation type IIn
SLC39A8 deficiency
gene_symbol: FARS2
disease_id: ORPHA:466722
disease_name: Autosomal recessive spastic paraplegia type 77
SPG77
gene_symbol: SLC25A20
disease_id: ORPHA:159
disease_name: Carnitine-acylcarnitine translocase deficiency
CACT deficiency
Phenotype: Medulloblastoma (HP:0002885)
Associated genes and diseases:
gene_symbol: DICER1
disease_id: OMIM:601200
disease_name: PLEUROPULMONARY BLASTOMA
gene_symbol: PTCH1
disease_id: ORPHA:77301
disease_name: Monosomy 9q22.3 syndrome
Microdeletion 9q22.3
gene_symbol: PTCH1
disease_id: ORPHA:377
disease_name: Gorlin syndrome
Basal cell nevus syndrome
Gorlin-Goltz syndrome
NBCCS
Nevoid basal cell carcinoma syndrome
gene_symbol: PTCH1
disease_id: OMIM:109400
disease_name: BASAL CELL NEVUS SYNDROME
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: PTCH2
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
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: SUFU
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: SUFU
disease_id: OMIM:620343
disease_name: BASAL CELL NEVUS SYNDROME 2
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: GPR161
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: CTNNB1
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: ELP1
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: BRCA2
disease_id: OMIM:155255
disease_name: MEDULLOBLASTOMA
gene_symbol: BRCA2
disease_id: OMIM:613029
disease_name: GLIOMA SUSCEPTIBILITY 3
gene_symbol: NBN
disease_id: OMIM:251260
disease_name: NIJMEGEN BREAKAGE SYNDROME
gene_symbol: APC
disease_id: OMIM:175100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 1
gene_symbol: PALB2
disease_id: OMIM:610832
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP N
gene_symbol: MLH1
disease_id: OMIM:276300
disease_name: MISMATCH REPAIR CANCER SYNDROME 1
gene_symbol: SMARCB1
disease_id: OMIM:609322
disease_name: RHABDOID TUMOR PREDISPOSITION SYNDROME 1
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: CHEK2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: KEAP1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
Phenotype: Vagal paraganglioma (HP:0002886)
Associated genes and diseases:
gene_symbol: SDHAF2
disease_id: OMIM:601650
disease_name: PARAGANGLIOMAS 2
gene_symbol: SDHD
disease_id: OMIM:168000
disease_name: PARAGANGLIOMAS 1
Phenotype: Ependymoma (HP:0002888)
Associated genes and diseases:
gene_symbol: MEN1
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1A
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2C
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: ERBB2
disease_id: OMIM:137800
disease_name: GLIOMA SUSCEPTIBILITY 1
gene_symbol: TP53
disease_id: OMIM:137800
disease_name: GLIOMA SUSCEPTIBILITY 1
gene_symbol: TP53
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: IDH1
disease_id: OMIM:137800
disease_name: GLIOMA SUSCEPTIBILITY 1
gene_symbol: IFNG
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: TSC2
disease_id: OMIM:613254
disease_name: TUBEROUS SCLEROSIS 2
gene_symbol: ZFTA
disease_id: ORPHA:251636
disease_name: Ependymoma
Classic ependymoma
gene_symbol: TSC1
disease_id: OMIM:191100
disease_name: TUBEROUS SCLEROSIS 1
gene_symbol: NF2
disease_id: ORPHA:637
disease_name: Full NF2-related schwannomatosis
Full NF2
Full neurofibromatosis type 2
Nonmosaic NF2-related schwannomatosis
Nonmosaic neurofibromatosis type 2
gene_symbol: NF2
disease_id: OMIM:101000
disease_name: NEUROFIBROMATOSIS, TYPE II
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: MLH1
disease_id: OMIM:276300
disease_name: MISMATCH REPAIR CANCER SYNDROME 1
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: CHEK2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated genes and diseases:
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: TP53
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
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: FLCN
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: CCND1
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: PIK3CA
disease_id: OMIM:114500
disease_name: COLORECTAL CANCER
gene_symbol: FH
disease_id: OMIM:150800
disease_name: HEREDITARY LEIOMYOMATOSIS AND RENAL CELL CANCER
gene_symbol: FH
disease_id: ORPHA:523
disease_name: Hereditary leiomyomatosis and renal cell cancer
Familial leiomyomatosis and renal cell cancer
Familial leiomyomatosis cutis et uteri
Familial leiomyomatosis with renal carcinoma
Familial multiple cutaneous leiomyomas
HLRCC
Hereditary leiomyomatosis
Hereditary leiomyomatosis with renal carcinoma
Hereditary multiple cutaneous leiomyomas
MCUL
Multiple cutaneous and uterine leiomyomas
Reed syndrome
Phenotype: Papillary thyroid carcinoma (HP:0002895)
Associated genes and diseases:
gene_symbol: DICER1
disease_id: OMIM:138800
disease_name: GOITER, MULTINODULAR 1, WITH OR WITHOUT SERTOLI-LEYDIG CELL TUMORS
gene_symbol: NKX2-1
disease_id: OMIM:188550
disease_name: THYROID CANCER, NONMEDULLARY, 1
gene_symbol: NRAS
disease_id: OMIM:188470
disease_name: THYROID CANCER, NONMEDULLARY, 2
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: MINPP1
disease_id: OMIM:188470
disease_name: THYROID CANCER, NONMEDULLARY, 2
gene_symbol: MINPP1
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
gene_symbol: FOXE1
disease_id: OMIM:616534
disease_name: THYROID CANCER, NONMEDULLARY, 4
gene_symbol: FOXE1
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
gene_symbol: SMARCA4
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCB1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SOX4
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID1A
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: DPF2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCC2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCD1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID1B
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCE1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
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gene_symbol: SOX11
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
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gene_symbol: SEC23B
disease_id: OMIM:616858
disease_name: COWDEN SYNDROME 7
gene_symbol: APC
disease_id: ORPHA:220460
disease_name: Attenuated familial adenomatous polyposis
AFAP
Attenuated FAP
Attenuated familial polyposis coli
gene_symbol: APC
disease_id: OMIM:175100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 1
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: HABP2
disease_id: ORPHA:319487
disease_name: Familial papillary or follicular thyroid carcinoma
FNMTC
Familial pure nonmedullary thyroid carcinoma
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
Phenotype: Genital warts (HP:0032301)
Associated genes and diseases:
gene_symbol: ICOSLG
disease_id: OMIM:620825
disease_name: IMMUNODEFICIENCY 119
gene_symbol: CD28
disease_id: OMIM:620901
disease_name: OMIM:620901
Phenotype: Increased circulating procalcitonin concentration (HP:0032308)
Associated genes and diseases:
gene_symbol: ADORA2A
disease_id: ORPHA:363549
disease_name: Acute encephalopathy with biphasic seizures and late reduced diffusion
AESD
AIEF
Acute infantile encephalopathy predominantly affecting the frontal lobes
Phenotype: Increased circulating globulin level (HP:0032311)
Associated genes and diseases:
gene_symbol: PTPN22
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-B
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-DRB1
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: P4HA2
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: ALB
disease_id: ORPHA:86816
disease_name: Congenital analbuminemia
Phenotype: Decreased circulating globulin level (HP:0032312)
Associated genes and diseases:
gene_symbol: SERPINE1
disease_id: ORPHA:465
disease_name: Congenital plasminogen activator inhibitor type 1 deficiency
Congenital PAI-1 deficiency
gene_symbol: PLG
disease_id: OMIM:217090
disease_name: PLASMINOGEN DEFICIENCY, TYPE I
gene_symbol: PLG
disease_id: ORPHA:722
disease_name: Hypoplasminogenemia
Plasminogen deficiency type 1
Phenotype: Frontotemporal hypertrichosis (HP:0032313)
Associated genes and diseases:
gene_symbol: ALG9
disease_id: OMIM:263210
disease_name: GILLESSEN-KAESBACH-NISHIMURA SYNDROME
Phenotype: Abnormal areolar morphology (HP:0032314)
Associated genes and diseases:
gene_symbol: KDM6A
disease_id: OMIM:300867
disease_name: KABUKI SYNDROME 2
gene_symbol: TBL1XR1
disease_id: OMIM:602342
disease_name: PIERPONT SYNDROME
gene_symbol: PTPRF
disease_id: OMIM:616001
disease_name: BREASTS AND/OR NIPPLES, APLASIA OR HYPOPLASIA OF, 2
Phenotype: Areolar fullness (HP:0032315)
Associated genes and diseases:
gene_symbol: KDM6A
disease_id: OMIM:300867
disease_name: KABUKI SYNDROME 2
Phenotype: Periodic fever (HP:0032323)
Associated genes and diseases:
gene_symbol: LACC1
disease_id: OMIM:618795
disease_name: JUVENILE ARTHRITIS
gene_symbol: TRNT1
disease_id: OMIM:616084
disease_name: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
gene_symbol: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
gene_symbol: NLRP3
disease_id: OMIM:617772
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION
Phenotype: Non-periodic recurrent fever (HP:0032324)
Associated genes and diseases:
gene_symbol: MEFV
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: PTPN6
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis