RGDs registry under the 'Cancer disorders'
| Disorder Name (Total=40) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Acute lymphoid leukemia |
•Acute lymphocytic leukemia •Acute lymphoblastic leukemia •Precursor lymphoid neoplasm |
Blood and Bone marrow |
FLT3 fms related receptor tyrosine kinase 3 ETV6 ETS variant transcription factor 6 PAX5 paired box 5 IKZF1 IKAROS family zinc finger 1 CDKN2A cyclin dependent kinase inhibitor 2A |
Reports Updated as of Mar 09, 2023 |
PubMed |
| Bannayan-Riley-Ruvalcaba syndrome Autosomal dominant |
Intestinal polyposis syndrome |
PTEN phosphatase and tensin homolog |
Reports Updated as of Mar 09, 2023 |
PubMed | |
| Lynch syndrome Autosomal dominant |
Colorectal cancer |
MSH2 mutS homolog 2 MSH6 mutS homolog 6 PMS2 PMS1 homolog 2, mismatch repair system component EPCAM epithelial cell adhesion molecule MLH1 mutL homolog 1 MLH3 mutL homolog 3 RB1 RB transcriptional corepressor 1 PALB2 partner and localizer of BRCA2 ATM ATM serine/threonine kinase CHEK2 checkpoint kinase 2 |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| Multiple endocrine neoplasia, type 1 Autosomal dominant |
•Wermer syndrome •Multiple endocrine neoplasia •Insulinoma |
Adrenal gland neoplasm |
MEN1 menin 1 CDC73 cell division cycle 73 |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Von Hippel-Lindau syndrome Autosomal dominant |
•Von Hippel-Lindau disease |
Neurocutaneous syndrome |
VHL von Hippel-Lindau tumor suppressor |
Reports Updated as of Sep 05, 2023 |
PubMed |
| Familial adenomatous polyposis Autosomal dominant, Autosomal recessive |
•MUTYH-related attenuated familial adenomatous polyposis •MUTYH-associated polyposis |
Colorectal cancer |
APC APC regulator of WNT signaling pathway MUTYH mutY DNA glycosylase MSH3 mutS homolog 3 NTHL1 nth like DNA glycosylase 1 STK11 serine/threonine kinase 11 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Adrenocortical carcinoma |
•Adrenal cortex cancer |
Adrenal gland neoplasm |
TP53 tumor protein p53 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Alveolar soft part sarcoma |
•ASPS •Alveolar soft tissue sarcoma |
Soft tissue sarcoma |
ASPSCR1 ASPSCR1 tether for SLC2A4, UBX domain containing |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Cholangiocarcinoma |
Liver cancer |
CXCR1 C-X-C motif chemokine receptor 1 PTGS2 prostaglandin-endoperoxide synthase 2 |
Reports Updated as of Nov 30, 2023 |
PubMed | |
| Chondrosarcoma Somatic mutation |
•CHS |
Bone cancer |
EXT1 exostosin glycosyltransferase 1 |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Ependymoma |
•Classic ependymoma |
Neuroepithelial neoplasm |
MEN1 menin 1 NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor |
Reports Updated as of Nov 30, 2023 |
PubMed |
| Gastrointestinal stroma tumor Autosomal dominant |
•Gastrointestinal stromal sarcoma |
Intestinal tumor |
PDGFRA platelet derived growth factor receptor alpha KIT KIT proto-oncogene, receptor tyrosine kinase SDHB succinate dehydrogenase complex iron sulfur subunit B SDHC succinate dehydrogenase complex subunit C SDHA succinate dehydrogenase complex flavoprotein subunit A |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Endometrial stromal sarcoma |
•Endometrioid stromal sarcoma |
Uterine cancer |
NUTM2A NUT family member 2A NUTM2B NUT family member 2B JAZF1 JAZF zinc finger 1 SUZ12 SUZ12 polycomb repressive complex 2 subunit YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon |
Reports Updated as of Dec 07, 2023 |
PubMed |
| Desmoid disease |
•Desmoid tumor •Fibromatosis, familial infiltrative |
Soft tissue sarcoma |
APC APC regulator of WNT signaling pathway |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Familial medullary thyroid carcinoma Autosomal dominant |
•Medullary thyroid carcinoma •Medullary thyroid cancer |
Adenocarcinoma |
RET ret proto-oncogene NTRK1 neurotrophic receptor tyrosine kinase 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Glioblastoma |
•Gliosarcoma (histologic variant) •Glioblastoma multiforme •GBM |
Neuroepithelial neoplasm |
IDH1 isocitrate dehydrogenase (NADP(+)) 1 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha EGFR epidermal growth factor receptor BRAF B-Raf proto-oncogene, serine/threonine kinase CREBBP CREB binding protein TP53 tumor protein p53 ATM ATM serine/threonine kinase MSH2 mutS homolog 2 SLX4 SLX4 structure-specific endonuclease subunit DNMT3A DNA methyltransferase 3 alpha |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Uveal melanoma Autosomal dominant |
•Intraocular melanoma •Melanoma of the Uvea |
Ocular cancer |
GNAQ G protein subunit alpha q BAP1 BRCA1 associated protein 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Synovial sarcoma |
Soft tissue sarcoma |
SSX2 SSX family member 2 |
Reports Updated as of Dec 29, 2023 |
PubMed | |
| Non-small cell lung carcinoma |
•Non-small cell lung cancer |
Lung cancer |
BRAF B-Raf proto-oncogene, serine/threonine kinase IRF1 interferon regulatory factor 1 ERBB2 erb-b2 receptor tyrosine kinase 2 KRAS KRAS proto-oncogene, GTPase EGFR epidermal growth factor receptor PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha NRAS NRAS proto-oncogene, GTPase DDR2 discoidin domain receptor tyrosine kinase 2 MAP2K1 mitogen-activated protein kinase kinase 1 ALK ALK receptor tyrosine kinase ARAF A-Raf proto-oncogene, serine/threonine kinase STK11 serine/threonine kinase 11 NOTCH1 notch receptor 1 |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Sezary syndrome |
•Sézary syndrome |
Skin and Blood cancer |
BCL10 BCL10 immune signaling adaptor |
Reports Updated as of Dec 29, 2023 |
PubMed |
| Schwannomatosis Autosomal dominant |
•Neurilemmomatosis •Neurofibromatosis •Neurofibroma •Schwannoma |
Neuroepithelial neoplasm |
NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 LZTR1 leucine zipper like post translational regulator 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Primary myelofibrosis |
•Idiopathic myelofibrosis •Agnogenic myeloid metaplasia •Myelofibrosis, somatic •Osteomyelofibrosis |
Myeloid hemopathy |
SH2B3 SH2B adaptor protein 3 CALR calreticulin |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Pilomatrixoma Somatic mutation |
•Epithelioma calcificans of Malherbe •Pilomatricoma |
Skin tumor or hamartoma |
CTNNB1 catenin beta 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Pediatric hepatocellular carcinoma |
•Childhood hepatocellular carcinoma •Childhood-onset hepatocellular carcinoma •Pediatric HCC |
Liver cancer |
MET MET proto-oncogene, receptor tyrosine kinase |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Parathyroid carcinoma |
•CDC73-Related Parathyroid Carcinoma •Parathyroid cancer •Parathyroid gland carcinoma •Parathyroid adenoma |
Parathyroid tumor |
CDC73 cell division cycle 73 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Choroid plexus papilloma Autosomal dominant |
•Papilloma of choroid plexus •CPP |
Tumor of neuroepithelial tissue |
TP53 tumor protein p53 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Papillary renal cell carcinoma Autosomal dominant |
•Papillary renal cell adenocarcinom |
Renal tumor |
VHL von Hippel-Lindau tumor suppressor MET MET proto-oncogene, receptor tyrosine kinase SDHB succinate dehydrogenase complex iron sulfur subunit B PTEN phosphatase and tensin homolog ERBB2 erb-b2 receptor tyrosine kinase 2 ARAF A-Raf proto-oncogene, serine/threonine kinase BRAF B-Raf proto-oncogene, serine/threonine kinase PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha RHEB Ras homolog, mTORC1 binding ELOC elongin C TP53 tumor protein p53 MTOR mechanistic target of rapamycin kinase |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Bone osteosarcoma Somatic mutation |
•Osteosarcoma •Osteogenic sarcoma |
Bone cancer |
CHEK2 checkpoint kinase 2 TSC2 TSC complex subunit 2 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Oligodendroglioma |
Tumor of neuroepithelial tissue |
CIC capicua transcriptional repressor |
Reports Updated as of Jan 04, 2024 |
PubMed | |
| Neuroblastoma |
•ALK-Related Neuroblastic Tumor Susceptibility |
Neuroepithelial neoplasm |
KIF1B kinesin family member 1B PHOX2B paired like homeobox 2B ALK ALK receptor tyrosine kinase FGFR1 fibroblast growth factor receptor 1 MYC MYC proto-oncogene, bHLH transcription factor BRCA2 BRCA2 DNA repair associated SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 PTCH1 patched 1 |
Reports Updated as of Jan 04, 2024 |
PubMed |
| Multiple myeloma Somatic mutation |
•Kahler disease • Medullary plasmacytoma • Myelomatosis • Plasma cell myeloma •Plasma cell dyscrasia |
Lymphocytic neoplasm |
FGFR3 fibroblast growth factor receptor 3 BRAF B-Raf proto-oncogene, serine/threonine kinase TP53 tumor protein p53 TRAF5 TNF receptor associated factor 5 CDKN2C cyclin dependent kinase inhibitor 2C BARD1 BRCA1 associated RING domain 1 HDAC4 histone deacetylase 4 DNMT3A DNA methyltransferase 3 alpha TET3 tet methylcytosine dioxygenase 3 CRBN cereblon MST1R macrophage stimulating 1 receptor BAP1 BRCA1 associated protein 1 TET2 tet methylcytosine dioxygenase 2 FAT1 FAT atypical cadherin 1 IL7R interleukin 7 receptor SGK1 serum/glucocorticoid regulated kinase 1 LATS1 large tumor suppressor kinase 1 H3C1 H3 clustered histone 1 H1-4 H1.4 linker histone, cluster member H2AC16 H2A clustered histone 16 H2AC17 H2A clustered histone 17 KMT2C lysine methyltransferase 2C RXRA retinoid X receptor alpha YAP1 Yes1 associated transcriptional regulator ATM ATM serine/threonine kinase SH2B3 SH2B adaptor protein 3 NCOR2 nuclear receptor corepressor 2 FLT3 fms related receptor tyrosine kinase 3 DIS3 DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease NKX2-1 NK2 homeobox 1 ARID4A AT-rich interaction domain 4A MGA MAX dimerization protein MGA CREBBP CREB binding protein CYLD CYLD lysine 63 deubiquitinase NF1 neurofibromin 1 TCF3 transcription factor 3 PIK3R2 phosphoinositide-3-kinase regulatory subunit 2 ERF ETS2 repressor factor SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 AURKA aurora kinase A BCORL1 BCL6 corepressor like 1 EIF1AX eukaryotic translation initiation factor 1A X-linked KDM5C lysine demethylase 5C P2RY8 P2Y receptor family member 8 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Muir-Torré syndrome Autosomal dominant |
•Multiple keratoacanthoma •Muir-Torre syndrome |
Colorectal cancer |
MSH2 mutS homolog 2 MLH1 mutL homolog 1 |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Mantle cell lymphoma |
•Mantle zone lymphoma |
Lymphoid hemopathy |
ATM ATM serine/threonine kinase |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Mucosa-associated lymphoma |
•MALT lymphoma •MALToma •Mucosa-associated lymphatic tissue lymphoma •Mucosa-associated lymphoid tissue lymphoma |
Lymphoid hemopathy |
BCL10 BCL10 immune signaling adaptor |
Reports Updated as of Feb 01, 2024 |
PubMed |
| Waldenstrom macroglobulinemia |
•Macroglobulinemia, Waldenstrom, 1 •Waldenström macroglobulinemia •Waldenstrom's Macroglobulinemia |
Lymphoid hemopathy |
MYD88 MYD88 innate immune signal transduction adaptor |
Reports Updated as of Feb 20, 2024 |
PubMed |
| Hereditary breast ovarian cancer syndrome Autosomal dominant |
•Familial susceptibility to Breast-Ovarian cancer •BRCA-related cancer •Breast-ovarian cancer, familial, susceptibility •Breast and ovarian cancer •Hereditary breast and ovarian cancer •Hereditary breast and ovarian cancer syndrome •Hereditary breast and ovarian cancer syndrome (HBOC) •Breast-ovarian cancer, familial, susceptibility to, 1 •Breast-ovarian cancer, familial, susceptibility to, 2 |
Breast and Ovarian cancer |
BRCA2 BRCA2 DNA repair associated BRCA1 BRCA1 DNA repair associated ATM ATM serine/threonine kinase RAD51B RAD51 paralog B BRIP1 BRCA1 interacting helicase 1 ABRAXAS1 abraxas 1, BRCA1 A complex subunit NBN nibrin PALB2 partner and localizer of BRCA2 CHEK2 checkpoint kinase 2 RAD51D RAD51 paralog D TP53 tumor protein p53 FANCM FA complementation group M XRCC2 X-ray repair cross complementing 2 VRK1 VRK serine/threonine kinase 1 FAN1 FANCD2 and FANCI associated nuclease 1 NF1 neurofibromin 1 MSH2 mutS homolog 2 MLH1 mutL homolog 1 RAD50 RAD50 double strand break repair protein RINT1 RAD50 interactor 1 RECQL RecQ like helicase BLM BLM RecQ like helicase RAD51C RAD51 paralog C EXO1 exonuclease 1 MUTYH mutY DNA glycosylase RAD54L RAD54 like CTNNA2 catenin alpha 2 MITF melanocyte inducing transcription factor SLC34A2 solute carrier family 34 member 2 CTNNA1 catenin alpha 1 DROSHA drosha ribonuclease III PLK2 polo like kinase 2 RIPK1 receptor interacting serine/threonine kinase 1 PTCH1 patched 1 ERCC6 ERCC excision repair 6, chromatin remodeling factor KRAS KRAS proto-oncogene, GTPase LCP1 lymphocyte cytosolic protein 1 HERPUD1 homocysteine inducible ER protein with ubiquitin like domain 1 BCAR1 BCAR1 scaffold protein, Cas family member FLCN folliculin FLNA filamin A BARD1 BRCA1 associated RING domain 1 FANCD2 FA complementation group D2 PNPT1 polyribonucleotide nucleotidyltransferase 1 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Acute megakaryoblastic leukemia |
•Acute megakaryocytic leukemia •Megakaryoblastic leukemia acute •AMKL •AML M7 •Acute myeloid leukemia M7 |
Blood cancer |
GATA1 GATA binding protein 1 TP53 tumor protein p53 JAK3 Janus kinase 3 JAK1 Janus kinase 1 SETD2 SET domain containing 2, histone lysine methyltransferase RAD21 RAD21 cohesin complex component CTCF CCCTC-binding factor SUZ12 SUZ12 polycomb repressive complex 2 subunit SRSF2 serine and arginine rich splicing factor 2 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Li-Fraumeni syndrome Autosomal dominant |
•Sarcoma family syndrome of Li and Fraumeni |
- |
CHEK2 checkpoint kinase 2 TP53 tumor protein p53 |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Cowden Syndrome Autosomal dominant |
•Multiple hamartoma syndrome •Cowden disease •Cowden's disease •Cowden's syndrome |
- |
PTEN phosphatase and tensin homolog AKT1 AKT serine/threonine kinase 1 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha SDHD succinate dehydrogenase complex subunit D EGFR epidermal growth factor receptor SDHB succinate dehydrogenase complex iron sulfur subunit B SEC23B SEC23 homolog B, COPII coat complex component |
Reports Updated as of Jul 20, 2024 |
PubMed |
| Familial cancer of breast Autosomal dominant |
•Hereditary breast carcinoma •hereditary breast cancer •familial breast carcinoma •breast cancer susceptibility, autosomal dominant, somatic mutation •breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation •breast cancer, invasive ductal, autosomal dominant, somatic mutation • breast cancer, lobular, somatic •breast cancer, male, susceptibility to, autosomal dominant, somatic mutation •breast cancer, protection against, autosomal dominant, somatic mutation •breast cancer, somatic •breast cancer, susceptibility to, autosomal dominant, somatic mutation •familial breast cancer •familial cancer of breast •familial cancer of the breast |
Neoplasm of breast |
ATM ATM serine/threonine kinase RAD51 RAD51 recombinase BRCA2 BRCA2 DNA repair associated BRCA1 BRCA1 DNA repair associated PALB2 partner and localizer of BRCA2 BARD1 BRCA1 associated RING domain 1 CHEK2 checkpoint kinase 2 BRIP1 BRCA1 interacting helicase 1 PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha CDH1 cadherin 1 PPM1D protein phosphatase, Mg2+/Mn2+ dependent 1D TP53 tumor protein p53 AKT1 AKT serine/threonine kinase 1 RB1CC1 RB1 inducible coiled-coil 1 RAD51D RAD51 paralog D PTEN phosphatase and tensin homolog PTCH2 patched 2 RAD54L RAD54 like ZNF462 zinc finger protein 462 |
Reports Updated as of Feb 26, 2025 |
PubMed |