Description
Expert-curated list from Norwegian Cancer Genomics Consortium (http://cancergenomics.no/)

148 Entities

0 reviewed, 0 green

List Entity Reviews Mode of inheritance Details
148 Entitiess
Red Red List (low evidence)
ABRAXAS1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
ACD
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
AIP
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
AKT1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
ALK
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Neuroblastoma
Tags
Red Red List (low evidence)
APC
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Familial adenomatous polyposis 1
Tags
Red Red List (low evidence)
ATM
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Ataxia-telangiectasia syndrome
Tags
Red Red List (low evidence)
AXIN1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
AXIN2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Oligodontia-colorectal cancer syndrome
Tags
Red Red List (low evidence)
BAP1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Tumor susceptibility linked to germline BAP1 mutations
  • BAP1 Cancer Syndrome
Tags
Red Red List (low evidence)
BARD1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
BLM
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Bloom syndrome
Tags
Red Red List (low evidence)
BMPR1A
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Juvenile polyposis syndrome
Tags
Red Red List (low evidence)
BRCA1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hereditary breast and ovarian cancer syndrome
Tags
Red Red List (low evidence)
BRCA2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hereditary breast and ovarian cancer syndrome
  • Fanconi anemia, complementation group D1
Tags
Red Red List (low evidence)
BRIP1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Fanconi anemia, complementation group J
Tags
Red Red List (low evidence)
BUB1B
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Mosaic variegated aneuploidy syndrome
Tags
Red Red List (low evidence)
CASR
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
CDC73
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hyperparathyroidism 2
Tags
Red Red List (low evidence)
CDH1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hereditary diffuse gastric cancer
Tags
Red Red List (low evidence)
CDK4
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Cutaneous malignant melanoma 3
  • Hereditary cutaneous melanoma
Tags
Red Red List (low evidence)
CDKN1B
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Multiple endocrine neoplasia, type 4
Tags
Red Red List (low evidence)
CDKN1C
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Beckwith-Wiedemann syndrome
Tags
Red Red List (low evidence)
CDKN2A
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hereditary cutaneous melanoma
Tags
Red Red List (low evidence)
CEBPA
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Acute myeloid leukemia
Tags
Red Red List (low evidence)
CEP57
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
CHEK2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Familial cancer of breast
Tags
Red Red List (low evidence)
CTNNA1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
CTNNB1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
CTRC
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
CYLD
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Spiegler-Brooke syndrome
Tags
Red Red List (low evidence)
DDB2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Xeroderma pigmentosum, group E
Tags
Red Red List (low evidence)
DICER1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • DICER1 syndrome
  • Pleuropulmonary blastoma
Tags
Red Red List (low evidence)
DIRAS3
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
DIS3L2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Renal hamartomas nephroblastomatosis and fetal gigantism
Tags
Red Red List (low evidence)
DTX3L
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
EGFR
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
ENG
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
EPCAM
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hereditary nonpolyposis colorectal cancer type 8
Tags
Red Red List (low evidence)
ERCC1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Cerebrooculofacioskeletal syndrome 4
Tags
Red Red List (low evidence)
ERCC2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Xeroderma pigmentosum, group D
Tags
Red Red List (low evidence)
ERCC3
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Xeroderma Pigmentosum, Complementation Group B
Tags
Red Red List (low evidence)
ERCC4
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Fanconi anemia, complementation group Q
  • Xeroderma pigmentosum, group F
Tags
Red Red List (low evidence)
ERCC5
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Xeroderma pigmentosum, group G
Tags
Red Red List (low evidence)
ETV6
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Thrombocytopenia 5
Tags
Red Red List (low evidence)
EXT1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Chondrosarcoma
Tags
Red Red List (low evidence)
EXT2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Multiple exostoses type 2
Tags
Red Red List (low evidence)
EZH2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
FANCA
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Fanconi anemia, complementation group A
Tags
Red Red List (low evidence)
FANCB
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
FANCC
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Fanconi anemia, complementation group C
Tags
Red Red List (low evidence)
FANCD2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Fanconi anemia, complementation group D2
Tags
Red Red List (low evidence)
FANCE
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Fanconi anemia, complementation group E
Tags
Red Red List (low evidence)
FANCF
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Fanconi anemia, complementation group F
Tags
Red Red List (low evidence)
FANCG
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Fanconi anemia, complementation group G
Tags
Red Red List (low evidence)
FANCI
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Fanconi anemia, complementation group I
Tags
Red Red List (low evidence)
FANCL
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Fanconi anemia, complementation group L
Tags
Red Red List (low evidence)
FANCM
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
FH
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Multiple cutaneous leiomyomas
Tags
Red Red List (low evidence)
FLCN
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Birt-Hogg-Dub syndrome
Tags
Red Red List (low evidence)
GALNT12
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
GATA2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency
Tags
Red Red List (low evidence)
GPC3
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Simpson-Golabi-Behmel syndrome
Tags
Red Red List (low evidence)
GREM1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
HABP2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
HNF1A
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hepatic adenomas, familial
Tags
Red Red List (low evidence)
HNF1B
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
HOXB13
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
HRAS
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Costello syndrome
Tags
Red Red List (low evidence)
KIF1B
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
KIT
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Gastrointestinal stroma tumor
Tags
Red Red List (low evidence)
LZTR1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
MAX
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes
Tags
Red Red List (low evidence)
MEN1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Multiple endocrine neoplasia, type 1
Tags
Red Red List (low evidence)
MET
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Renal cell carcinoma, papillary, 1
Tags
Red Red List (low evidence)
MITF
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hereditary cutaneous melanoma
Tags
Red Red List (low evidence)
MLH1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Lynch syndrome
  • Hereditary nonpolyposis colon cancer
  • Turcot syndrome
Tags
Red Red List (low evidence)
MLH3
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
MRE11
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
MSH2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Lynch syndrome
  • Hereditary nonpolyposis colon cancer
  • Turcot syndrome
Tags
Red Red List (low evidence)
MSH3
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
MSH6
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Lynch syndrome
  • Hereditary nonpolyposis colon cancer
  • Turcot syndrome
Tags
Red Red List (low evidence)
MUTYH
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • MYH-associated polyposis
Tags
Red Red List (low evidence)
NBN
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Microcephaly, normal intelligence and immunodeficiency
Tags
Red Red List (low evidence)
NF1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Neurofibromatosis, type 1
Tags
Red Red List (low evidence)
NF2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Neurofibromatosis, type 2
Tags
Red Red List (low evidence)
NSD1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
NTHL1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Familial adenomatous polyposis 3
Tags
Red Red List (low evidence)
OGG1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
PALB2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Fanconi anemia, complementation group N
Tags
Red Red List (low evidence)
PAX5
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Leukemia, acute lymphoblastic, susceptibility to, 3
Tags
Red Red List (low evidence)
PDGFRA
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Gastrointestinal stroma tumor
Tags
Red Red List (low evidence)
PHOX2B
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Neuroblastoma 2
Tags
Red Red List (low evidence)
PIK3CA
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
PINK1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
PMS1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Familial colorectal cancer
Tags
Red Red List (low evidence)
PMS2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Lynch syndrome
  • Hereditary nonpolyposis colon cancer
  • Turcot syndrome
Tags
Red Red List (low evidence)
POLD1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Polymerase proofreading-related adenomatous polyposis
Tags
Red Red List (low evidence)
POLE
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Polymerase proofreading-related adenomatous polyposis
Tags
Red Red List (low evidence)
POT1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Melanoma, cutaneous malignant, susceptibility to, 10
Tags
Red Red List (low evidence)
PPM1D
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
PRF1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hemophagocytic lymphohistiocytosis, familial, 2
Tags
Red Red List (low evidence)
PRKAR1A
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Carney complex
Tags
Red Red List (low evidence)
PRSS1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hereditary pancreatitis
Tags
Red Red List (low evidence)
PTCH1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Gorlin syndrome
Tags
Red Red List (low evidence)
PTEN
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • PTEN hamartoma tumor syndrome
  • Cowden syndrome 1
Tags
Red Red List (low evidence)
PTPN11
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Noonan syndrome
Tags
Red Red List (low evidence)
RAD50
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
RAD51
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
RAD51B
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
RAD51C
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Fanconi anemia, complementation group O
Tags
Red Red List (low evidence)
RAD51D
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Breast-ovarian cancer, familial 4
Tags
Red Red List (low evidence)
RB1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Retinoblastoma
  • Osteosarcoma
Tags
Red Red List (low evidence)
RCC2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
RECQL4
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Rothmund-Thomson syndrome
Tags
Red Red List (low evidence)
RET
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Multiple endocrine neoplasia, type 2b
  • Multiple endocrine neoplasia, type 2a
  • Familial medullary thyroid carcinoma
Tags
Red Red List (low evidence)
RHBDF2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Howel-Evans syndrome
Tags
Red Red List (low evidence)
RING1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
RINT1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
RUNX1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Familial platelet disorder with associated myeloid malignancy
Tags
Red Red List (low evidence)
SBDS
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Shwachman syndrome
Tags
Red Red List (low evidence)
SCG5
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
SDHA
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Paragangliomas 5
Tags
Red Red List (low evidence)
SDHAF2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes
Tags
Red Red List (low evidence)
SDHB
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes
  • Paraganglioma and gastric stromal sarcoma
Tags
Red Red List (low evidence)
SDHC
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes
  • Paraganglioma and gastric stromal sarcoma
Tags
Red Red List (low evidence)
SDHD
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Hereditary Paraganglioma-Pheochromocytoma Syndromes
  • Paraganglioma and gastric stromal sarcoma
Tags
Red Red List (low evidence)
SLX4
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
SMAD4
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Juvenile polyposis syndrome
Tags
Red Red List (low evidence)
SMARCA4
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Rhabdoid tumor predisposition syndrome 2
Tags
Red Red List (low evidence)
SMARCB1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Rhabdoid tumor predisposition syndrome 1
Tags
Red Red List (low evidence)
SMARCE1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Meningioma, familial
Tags
Red Red List (low evidence)
SPINK1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
SPRED1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
STK11
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Peutz-Jeghers syndrome
Tags
Red Red List (low evidence)
SUFU
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Meningioma, familial
  • Medulloblastoma
Tags
Red Red List (low evidence)
TERF2IP
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags
Red Red List (low evidence)
TERT
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Dyskeratosis congenita autosomal dominant
Tags
Red Red List (low evidence)
TMEM127
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Pheochromocytoma
Tags
Red Red List (low evidence)
TP53
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Li-Fraumeni syndrome 1
Tags
Red Red List (low evidence)
TSC1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Tuberous sclerosis 1
Tags
Red Red List (low evidence)
TSC2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Tuberous sclerosis 2
Tags
Red Red List (low evidence)
VHL
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Von Hippel-Lindau syndrome
Tags
Red Red List (low evidence)
WRN
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Werner syndrome
Tags
Red Red List (low evidence)
WT1
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Wilms tumor 1
Tags
Red Red List (low evidence)
XPA
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Xeroderma pigmentosum, type 1
Tags
Red Red List (low evidence)
XPC
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • Xeroderma pigmentosum, group C
Tags
Red Red List (low evidence)
XRCC2
0 reviews
Other
Sources
  • NCGC
Phenotypes
  • NA
Tags

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