Phenotype: Germ cell neoplasia (HP:0100728)
Associated genes and diseases:
gene_symbol: CDKN1C
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: IGF2
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: H19
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: KCNQ1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: KCNQ1OT1
disease_id: OMIM:130650
disease_name: BECKWITH-WIEDEMANN SYNDROME
gene_symbol: SOX9
disease_id: OMIM:616425
disease_name: 46,XY SEX REVERSAL 10
gene_symbol: SOX9
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: MAP3K1
disease_id: OMIM:613762
disease_name: 46,XY SEX REVERSAL 6
gene_symbol: MAP3K1
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: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: SRY
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
gene_symbol: SRY
disease_id: OMIM:400044
disease_name: 46,XY SEX REVERSAL 1
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: NR5A1
disease_id: ORPHA:251510
disease_name: 46,XY partial gonadal dysgenesis
46,XY PGD
46,XY partial testicular dysgenesis
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: ORPHA:347
disease_name: Frasier syndrome
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: DHH
disease_id: OMIM:233420
disease_name: 46,XY SEX REVERSAL 7
gene_symbol: DHH
disease_id: ORPHA:168563
disease_name: 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
gene_symbol: SETBP1
disease_id: OMIM:269150
disease_name: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: BCL10
disease_id: OMIM:273300
disease_name: TESTICULAR GERM CELL TUMOR
gene_symbol: FGFR3
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: STK11
disease_id: OMIM:273300
disease_name: TESTICULAR GERM CELL TUMOR
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: 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: 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: STS
disease_id: ORPHA:281090
disease_name: Syndromic recessive X-linked ichthyosis
Recessive X-linked ichthyosis with extracutaneous manifestations
Syndromic RXLI
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: ERBB2
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: AKT1
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: CTNNB1
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: PIK3CA
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: PRKN
disease_id: OMIM:167000
disease_name: OVARIAN CANCER
gene_symbol: FGFR2
disease_id: OMIM:123500
disease_name: CROUZON SYNDROME
gene_symbol: AR
disease_id: ORPHA:90797
disease_name: Partial androgen insensitivity syndrome
PAIS
Partial androgen resistance syndrome
gene_symbol: AR
disease_id: ORPHA:99429
disease_name: Complete androgen insensitivity syndrome
CAIS
Complete androgen resistance syndrome
gene_symbol: RNF43
disease_id: ORPHA:157798
disease_name: Serrated polyposis syndrome
Hyperplastic polyposis syndrome
gene_symbol: TP53
disease_id: OMIM:151623
disease_name: LI-FRAUMENI 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