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ABGC2 > Genes > Flashcards

Genes Flashcards

1
Q

DMPK gene

A

myotonic dystrophy, type 1

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2
Q

ZNF9 gene

A

myotonic dystrophy, type 2

aka CNBP gene

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3
Q

CNPB gene

A

myotonic dystrophy, type 2

aka ZNF9 gene

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4
Q

DMD gene

A

Duchenne, Becker

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5
Q

APP gene

A

early onset familial Alzheimer’s

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6
Q

PSEN1 gene

A

early onset familial Alzheimer’s

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7
Q

PSEN2 gene

A

early onset familial Alzheimer’s

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8
Q

APOE gene

A

late onset familial Alzheimer’s risk factor alleles

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9
Q

ATP7B gene

A

Wilson disease

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10
Q

CACNA1C gene

A

Timothy syndrome

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11
Q

PARK2 gene

A

Parkinson disease

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12
Q

FMR1 gene

A

fragile X syndrome

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13
Q

FRDA gene

A

Friedrich’s ataxia

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14
Q

SOD1 gene

A

amyotrophic lateral sclerosis

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15
Q

MECP2 gene

A

Rett syndrome

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16
Q

SGCx genes

A

sarcoglycanopathies, LGMD2

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17
Q

MKSx genes

A

Meckel-Gruber syndrome

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18
Q

FGFR3 gene

A

achondroplasia,

others (including Muenke syndrome)

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19
Q

PMP22 gene

A

CMT1A

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20
Q

CHD7 gene

A

CHARGE syndrome

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21
Q

BCR-ABL gene

A

chronic myelogenous leukemia

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22
Q

NOD2 gene

A

Crohn disease

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23
Q

CFTR gene

A

cystic fibrosis

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24
Q

GJB2 gene

A

deafness (nonsyndromic)

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25
Q

APC gene

A

familial adenomatous polyposis

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26
Q

LDLR gene

A

familial hypercholesterolemia

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27
Q

G6PD gene

A

glucose-6-phosphate dehydrogenase deficiency

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28
Q

HFE gene

A

hereditary hemochromatosis

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29
Q

F8 and F9 genes

A

hemophilia

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30
Q

MSH2 gene

A

HNPCC

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31
Q

MSH6 gene

A

HNPCC

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32
Q

MLH1 gene

A

HNPCC

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33
Q

MLH3 gene

A

HNPCC

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34
Q

PMS1 gene

A

HNPCC

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35
Q

PMS2 gene

A

HNPCC

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36
Q

EPCAM gene

A

HNPCC

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37
Q

SHH gene

A

holoprosencephaly (nonsyndromic)

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38
Q

HTT gene

A

Huntington disease

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39
Q

FBN1 gene

A

Marfan syndrome

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40
Q

NF1 gene

A

neurofibromatosis 1

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41
Q

OTC gene

A

ornithine transcarbamylase deficiency

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42
Q

PKDx genes

A

polycystic kidney disease

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43
Q

RB1 gene

A

retinoblastoma

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44
Q

SRY gene

A

sex reversal

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45
Q

HBA gene

A

sickle cell

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46
Q

HBB gene

A

sickle cell

47
Q

HEXA gene

A

Tay-Sachs disease

48
Q

TPMT gene

A

thiopurine S-methyltransferase deficiency

49
Q

FV gene

A

thrombophilia

50
Q

PROC gene

A

thrombophilia

51
Q

CFH gene

A

age-related macular degeneration

52
Q

CFB gene

A

age-related macular degeneration - PROTECTIVE!

53
Q

C2 gene

A

age-related macular degeneration - PROTECTIVE!

54
Q

GJB2 gene

A

nonsyndromic hearing loss

55
Q

GJB6 gene

A

nonsyndromic hearing loss

56
Q

TCOF1 gene

A

Treacher-Collins syndrome

57
Q

SLC26A4 gene

A

Pendred syndrome

58
Q

KCNxx genes

A

long QT, Jervell and Lange-Nielsen syndrome

59
Q

RET gene

A

Hirschsprung disease
medullary thyroid cancer (isolated)
MEN2

60
Q

FWT1/2 genes

A

Wilms’ tumor

61
Q

SDHB gene

A

pheo/PGL syndrome

- body

62
Q

SDHC gene

A

pheo/PGL syndrome

- head

63
Q

SDHD gene

A

pheo/PGL syndrome

64
Q

CDKN2A gene

A

FAMMM

melanoma

65
Q

ATM gene

A
  • ataxia telangiectasia

- low penetrance breast cancer

66
Q

FANCx genes

A

Fanconi anemia

67
Q

VHL gene

A

Von Hippel Lindau

68
Q

MET gene

A

hereditary papillary renal carcinoma

69
Q

FLCN gene

A

Birt-Hogg-Dube

70
Q

BLM gene

A

Bloom syndrome

71
Q

FH gene

A

HLRCC

leiomyomatosis and renal cell cancer

72
Q

SPRED1 gene

A

NFLS

Legius syndrome

73
Q

MERLIN

A

NF2

74
Q

SMARCB1 / IGLC1 / INI1 / NF2 genes

A

schwannomatosis

75
Q

TSC1/2 genes

A

tuberous sclerosis

76
Q

MEN1 gene

A

MEN1

77
Q

ASPA gene

A

Canavan disease

78
Q

IKBKAP gene

A

familial dysautonomia

79
Q

GBA gene

A

Gaucher disease

80
Q

BRCA1/2 genes

A

HBOC

81
Q

TP53 gene

A

Li-Fraumeni syndrome

82
Q

PTEN gene

A

Cowden syndrome

83
Q

CHEK2 gene

A

low penetrance breast cancer

84
Q

PALB2 gene

A

low penetrance breast cancer

85
Q

BRIP1 gene

A

low penetrance breast cancer

86
Q

APC gene

A

FAP

87
Q

MYH gene

A

MAP

88
Q

STK11 gene

A

PJS

89
Q

BMPR1A gene

A

JPS

90
Q

SMAD4

A

JPS

91
Q

CDH1 gene

A

hereditary diffuse gastric cancer

92
Q

isochromosome 12p

A

Pallister-Killian

93
Q

COL5Ax genes

A

Ehlers-Danlos

94
Q

TGFBx genes

A

Loeys-Dietz

95
Q

DHCR7 gene

A

SLOS

96
Q

GALT gene

A

galactosemia

97
Q

MYxxx genes

A

hypertrophic cardiomyopathy

98
Q

22q tetraploidy

A

cat-eye syndrome

99
Q

PAH gene

A

PKU

100
Q

BCKDHx genes

A

MSUD

101
Q

DBT gene

A

MSUD

102
Q

FGFR2 gene

A

Crouzon

103
Q

TWIST1 gene

A

Saethre-Chotzen

104
Q

PTPN11 gene

A

Noonan

105
Q

CYP21A2 gene

A

CAH

106
Q

5p-

A

cri du chat

107
Q

NSD1 gene

A

Sotos

108
Q

PRKAR1A gene

A

Carney complex

109
Q

IDUA gene

A

Hurler

110
Q

COL1A1/2

A

osteogenesis imperfecta

111
Q

SERPINA gene

A

alpha-1-antitrypsin deficiency

112
Q

GPCx genes

A

Simpson Golabi Behmel

113
Q

DUX4 gene

A

facioscapulohumeral muscular dystrophy

114
Q

AR gene

A
  • androgen insensitivity

- Kennedy disease

ABGC2 (12 decks)

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