Phenotype: Testicular neoplasm (HP:0010788)
Associated genes and diseases:
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: STK11
disease_id: OMIM:175200
disease_name: PEUTZ-JEGHERS SYNDROME
gene_symbol: CDC73
disease_id: ORPHA:143
disease_name: Parathyroid carcinoma
gene_symbol: CDC73
disease_id: ORPHA:99880
disease_name: Hyperparathyroidism-jaw tumor syndrome
HPT-JT
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: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
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: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
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: 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: 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: IGF2
disease_id: OMIM:180860
disease_name: SILVER-RUSSELL SYNDROME 1