Phenotype: Goiter (HP:0000853)
Associated genes and diseases:
gene_symbol: SLC25A4
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: TWNK
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: POLG2
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: RRM2B
disease_id: ORPHA:254892
disease_name: Autosomal dominant progressive external ophthalmoplegia
adPEO
gene_symbol: DICER1
disease_id: OMIM:180295
disease_name: RHABDOMYOSARCOMA, EMBRYONAL, 2
gene_symbol: RCBTB1
disease_id: OMIM:617175
disease_name: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES
gene_symbol: THRB
disease_id: OMIM:188570
disease_name: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
gene_symbol: THRB
disease_id: OMIM:274300
disease_name: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE
gene_symbol: THRB
disease_id: ORPHA:566243
disease_name: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
RTHb
Resistance to thyroid hormone beta
Resistance to thyroid hormone due to a mutation in TRb
gene_symbol: DNAH1
disease_id: OMIM:617577
disease_name: CILIARY DYSKINESIA, PRIMARY, 37
gene_symbol: TSHR
disease_id: ORPHA:99819
disease_name: Familial gestational hyperthyroidism
gene_symbol: TSHR
disease_id: ORPHA:424
disease_name: Familial hyperthyroidism due to mutations in TSH receptor
Familial non-immune hyperthyroidism
Resistance to thyroid stimulating hormone
gene_symbol: TSHR
disease_id: OMIM:275200
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1
gene_symbol: TSHR
disease_id: ORPHA:90673
disease_name: Hypothyroidism due to TSH receptor mutations
gene_symbol: TSHR
disease_id: OMIM:609152
disease_name: HYPERTHYROIDISM, NONAUTOIMMUNE
gene_symbol: KCNJ10
disease_id: ORPHA:705
disease_name: Pendred syndrome
Goiter-deafness syndrome
Goiter-hearing loss syndrome
gene_symbol: KCNJ10
disease_id: OMIM:600791
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
gene_symbol: KCNJ10
disease_id: OMIM:274600
disease_name: PENDRED SYNDROME
gene_symbol: FOXI1
disease_id: ORPHA:705
disease_name: Pendred syndrome
Goiter-deafness syndrome
Goiter-hearing loss syndrome
gene_symbol: FOXI1
disease_id: OMIM:600791
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
gene_symbol: FOXI1
disease_id: OMIM:274600
disease_name: PENDRED SYNDROME
gene_symbol: SLC26A4
disease_id: ORPHA:705
disease_name: Pendred syndrome
Goiter-deafness syndrome
Goiter-hearing loss syndrome
gene_symbol: SLC26A4
disease_id: OMIM:600791
disease_name: DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
gene_symbol: SLC26A4
disease_id: OMIM:274600
disease_name: PENDRED SYNDROME
gene_symbol: TG
disease_id: OMIM:274700
disease_name: THYROID DYSHORMONOGENESIS 3
gene_symbol: TG
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: SUGCT
disease_id: OMIM:231690
disease_name: GLUTARIC ACIDURIA III
gene_symbol: TPO
disease_id: OMIM:274500
disease_name: THYROID DYSHORMONOGENESIS 2A
gene_symbol: TPO
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: DUOXA2
disease_id: OMIM:274900
disease_name: THYROID DYSHORMONOGENESIS 5
gene_symbol: DUOXA2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
gene_symbol: PTEN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PAX8
disease_id: OMIM:218700
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2
gene_symbol: CACNA1S
disease_id: OMIM:188580
disease_name: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 1
gene_symbol: SAA1
disease_id: ORPHA:85445
disease_name: AA amyloidosis
Inflammatory amyloidosis
Reactive amyloidosis
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: DUOX2
disease_id: ORPHA:226316
disease_name: Genetic transient congenital hypothyroidism
gene_symbol: DUOX2
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: SEC23B
disease_id: OMIM:616858
disease_name: COWDEN SYNDROME 7
gene_symbol: SEC23B
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma 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: TSHB
disease_id: ORPHA:90674
disease_name: Isolated thyroid-stimulating hormone deficiency
Isolated TSH deficiency
Isolated thyrotropin deficiency
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: NKX2-1
disease_id: OMIM:188550
disease_name: THYROID CANCER, NONMEDULLARY, 1
gene_symbol: SLC5A5
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: SLC5A5
disease_id: OMIM:274400
disease_name: THYROID DYSHORMONOGENESIS 1
gene_symbol: IYD
disease_id: ORPHA:95716
disease_name: Familial thyroid dyshormonogenesis
Thyroid dyshormonogenesis
gene_symbol: IYD
disease_id: OMIM:274800
disease_name: THYROID DYSHORMONOGENESIS 4
gene_symbol: KCNJ18
disease_id: OMIM:613239
disease_name: THYROTOXIC PERIODIC PARALYSIS, SUSCEPTIBILITY TO, 2
gene_symbol: TRHR
disease_id: ORPHA:99832
disease_name: Resistance to thyrotropin-releasing hormone syndrome
Central hypothyroidism due to TRH receptor deficiency
TRH resistance syndrome
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
gene_symbol: SDHB
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHD
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: SDHC
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: AKT1
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: AKT1
disease_id: OMIM:615109
disease_name: COWDEN SYNDROME 6
gene_symbol: USF3
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: PIK3CA
disease_id: OMIM:615108
disease_name: COWDEN SYNDROME 5
gene_symbol: KLLN
disease_id: ORPHA:201
disease_name: Cowden syndrome
Cowden disease
Multiple hamartoma syndrome
gene_symbol: CDH23
disease_id: ORPHA:91347
disease_name: TSH-secreting pituitary adenoma
Pituitary thyrotrophic adenoma
TSH-oma
Thyroid stimulating hormone-secreting pituitary adenoma
Thyrotroph adenoma
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: 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: ALMS1
disease_id: OMIM:203800
disease_name: ALSTROM SYNDROME
gene_symbol: KEAP1
disease_id: ORPHA:276399
disease_name: Familial multinodular goiter
FMNG
Familial MNG
Familial multinodular goiter syndrome
gene_symbol: MAD1L1
disease_id: OMIM:620189
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 7 WITH INFLAMMATION AND TUMOR PREDISPOSITION
gene_symbol: GPR101
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: AIP
disease_id: ORPHA:963
disease_name: Acromegaly
gene_symbol: SASH1
disease_id: OMIM:618373
disease_name: CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA
gene_symbol: MMP2
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: MMP14
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: RET
disease_id: OMIM:162300
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIB
gene_symbol: EYA1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: EYA1
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
gene_symbol: SIX1
disease_id: OMIM:113650
disease_name: BRANCHIOOTORENAL SYNDROME 1
gene_symbol: SIX1
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
gene_symbol: SIX5
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome