Genes Flashcards by Niamh Armstrong | Brainscape

Q

PKU

A

Phenylketonuria

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Q

NOD2

A

Crohns

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Q

COL1A

A

Ehler’s danlos

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Q

CFTR

A

Cystic fibrosis

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Q

HLD-DQ2

A

coeliac

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Q

MSH1
MSH2

A

Hereditary non-polyposis colorectal cancer (HNPCC)

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Q

APC

A

Familial adenomatous polyposis (FAP)

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Q

LKB1
STK11

A

Peutz-Jegher’s syndrome

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Q

KRAS

A

Pancreatic cancer

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Q

HNF alpha

A

Maturity onset diabetes of the young

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Q

FBN1(Fibrillin 1)

A

Marfans

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Q

RB1
TP53

A

Osteosarcoma

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Q

EWSR1
FLI1

A

Ewing sarcoma

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Q

HFE (chromosome 6)

A

Haemochromatosis

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Q

ADH receptor

A

Nephrogenic diabetes insipidus

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Q

HLA-B27

A

Ankylosing spondylitis

Q

HLA-DRQ

A

SLE
MS
Leprosy

Q

FXN

A

Friedrich’s ataxia

Q

DMD
XP21

A

Duchenne’s muscular dystrophy

Q

SMA

A

Spinal muscular atrophy

Q

CMYC

A

Burkitt lymphoma
Diffuse large B cell lymphoma

Q

WT1

A

Wilm’s tumour

Q

VHL

A

Renal cell carcinoma

Q

RB

A

Retinoblastoma
Osteosarcoma

Q

NF1 (chromosome 17)

A

Neurofibromatosis

Q

APOE 4

A

Sporadic Alzheimer’s

Q

APP
PSEN1
PSEN2

A

Familial Alzheimer’s

Q

PARK

A

Parkinsons

Q

CAG trinucleotide repeat

A

Huntington’s

Q

GAA trinucleotide repeat

A

Friedrich’s ataxia

Q

CTG trinucleotide repeat

A

Myotonic dystrophy

Q

CGG trinucleotide repeat

A

fragile x

Q

A