Only Phenotypes that can be linked to residues in CREDO are displayed.
Phenotype ID Description ID Variations Targets Residues Binding Sites Interfaces Grooves
22 46,XY SEX REVERSAL 1
1216 DEVELOPMENTAL VERBAL DYSPRAXIA
1310 DYSPROTHROMBINEMIA
2715 HEPATOBLASTOMA
2943 IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
3162 LI-FRAUMENI SYNDROME 1
3683 NASOPHARYNGEAL CARCINOMA, SOMATIC
3903 OSTEOSARCOMA
5339 Immunodeficiency polyendocrinopathy, enteropathy, X-linked syndrome
5373 Li-Fraumeni syndrome
6521 COSMIC:tumour_site:NS
6522 COSMIC:tumour_site:large_intestine
6523 COSMIC:tumour_site:skin
6524 COSMIC:tumour_site:prostate
6525 COSMIC:tumour_site:central_nervous_system
6526 COSMIC:tumour_site:stomach
6527 COSMIC:tumour_site:ovary
6528 COSMIC:tumour_site:upper_aerodigestive_tract
6529 COSMIC:tumour_site:breast
6530 COSMIC:tumour_site:liver
6531 COSMIC:tumour_site:haematopoietic_and_lymphoid_tissue
6532 COSMIC:tumour_site:pancreas
6534 COSMIC:tumour_site:lung
6535 COSMIC:tumour_site:kidney
6536 COSMIC:tumour_site:urinary_tract
6537 COSMIC:tumour_site:thyroid
6538 COSMIC:tumour_site:endometrium
6539 COSMIC:tumour_site:soft_tissue
6540 COSMIC:tumour_site:adrenal_gland
6541 COSMIC:tumour_site:biliary_tract
6542 COSMIC:tumour_site:bone
6543 COSMIC:tumour_site:small_intestine
6544 COSMIC:tumour_site:oesophagus
6545 COSMIC:tumour_site:salivary_gland
6547 COSMIC:tumour_site:cervix
6548 COSMIC:tumour_site:eye
6549 COSMIC:tumour_site:pituitary
6551 COSMIC:tumour_site:genital_tract
6554 COSMIC:tumour_site:vulva
6555 COSMIC:tumour_site:peritoneum
6556 COSMIC:tumour_site:thymus
6557 COSMIC:tumour_site:penis
6561 COSMIC:tumour_site:vagina
6562 COSMIC:tumour_site:fallopian_tube