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FINALS (all high yield study decks) > Genes > Flashcards

Genes Flashcards

1
Q

PKU

A

Phenylketonuria

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2
Q

NOD2

A

Crohns

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3
Q

COL1A

A

Ehler’s danlos

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4
Q

CFTR

A

Cystic fibrosis

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5
Q

HLD-DQ2

A

coeliac

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6
Q

MSH1
MSH2

A

Hereditary non-polyposis colorectal cancer (HNPCC)

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7
Q

APC

A

Familial adenomatous polyposis (FAP)

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8
Q

LKB1
STK11

A

Peutz-Jegher’s syndrome

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9
Q

KRAS

A

Pancreatic cancer

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10
Q

HNF alpha

A

Maturity onset diabetes of the young

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11
Q

FBN1(Fibrillin 1)

A

Marfans

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12
Q

RB1
TP53

A

Osteosarcoma

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13
Q

EWSR1
FLI1

A

Ewing sarcoma

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14
Q

HFE (chromosome 6)

A

Haemochromatosis

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15
Q

ADH receptor

A

Nephrogenic diabetes insipidus

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16
Q

HLA-B27

A

Ankylosing spondylitis

17
Q

HLA-DRQ

A

SLE
MS
Leprosy

18
Q

FXN

A

Friedrich’s ataxia

19
Q

DMD
XP21

A

Duchenne’s muscular dystrophy

20
Q

SMA

A

Spinal muscular atrophy

21
Q

CMYC

A

Burkitt lymphoma
Diffuse large B cell lymphoma

22
Q

WT1

A

Wilm’s tumour

23
Q

VHL

A

Renal cell carcinoma

24
Q

RB

A

Retinoblastoma
Osteosarcoma

25
Q

NF1 (chromosome 17)

A

Neurofibromatosis

26
Q

APOE 4

A

Sporadic Alzheimer’s

27
Q

APP
PSEN1
PSEN2

A

Familial Alzheimer’s

28
Q

PARK

A

Parkinsons

29
Q

CAG trinucleotide repeat

A

Huntington’s

30
Q

GAA trinucleotide repeat

A

Friedrich’s ataxia

31
Q

CTG trinucleotide repeat

A

Myotonic dystrophy

32
Q

CGG trinucleotide repeat

FINALS (all high yield study decks) (24 decks)

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