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TP53
- Synovial Sarcoma
- Nevus Of Ota
- Penile Cancer
- Complete Androgen Insensitivity Syndrome
- Adrenocortical Carcinoma
- Dilated Cardiomyopathy
FMR1
- Cognitive Deficit
- Primary Ovarian Insufficiency
- Imbecile
AR
- Penile Cancer
- Cognitive Deficit
- Primary Ovarian Insufficiency
- Complete Androgen Insensitivity Syndrome
- Adrenocortical Carcinoma
- Dilated Cardiomyopathy
EGFR
- Synovial Sarcoma
- Severe Acute Respiratory Syndrome
- Penile Cancer
- Complete Androgen Insensitivity Syndrome
- Adrenocortical Carcinoma
- Dilated Cardiomyopathy
- Disseminated Intravascular Coagulation
COMT
- Cognitive Deficit
- Primary Ovarian Insufficiency
- Digeorge Syndrome
SH3TC2
- Charcot-Marie-Tooth Neuropathy Type 4c
TBX1
- Digeorge Syndrome
NR5A1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency
- Complete Androgen Insensitivity Syndrome
- Adrenocortical Carcinoma
CTNNB1
- Xy Gonadal Dysgenesis
- Synovial Sarcoma
- Complete Androgen Insensitivity Syndrome
- Adrenocortical Carcinoma
- Dilated Cardiomyopathy
- Digeorge Syndrome
SSX1
- Synovial Sarcoma
SSX2
- Synovial Sarcoma
TTN
- Dilated Cardiomyopathy
IGF2
- Synovial Sarcoma
- Cognitive Deficit
- Adrenocortical Carcinoma
PSEN1
- Cognitive Deficit
- Dilated Cardiomyopathy
MSH2
- Muir–torre Syndrome
- Adrenocortical Carcinoma
MLH1
- Synovial Sarcoma
- Muir–torre Syndrome
SS18
- Synovial Sarcoma
KRT17
- Pachyonychia Congenita
BCL2
- Synovial Sarcoma
- Primary Ovarian Insufficiency
- Dilated Cardiomyopathy
- Digeorge Syndrome
WT1
- Xy Gonadal Dysgenesis
- Primary Ovarian Insufficiency