Dyskeratosis congenita

Disease Term Disease ID Gene Symbol References
Dyskeratosis Congenita C0265965, 1775 DKC1 25992652, 19391112, 10583221, 19835419, 28297620, 9590285, 11379875, 24914498, 14648217, 22058290, 10364516, 11491307, 22299032, 23660516, 17785587, 21602826
NPM1 31570891
PARN 28297620, 25893599
TERC 28297620, 12090986, 11574891, 17785587, 12525685
TERT 16247010, 18042801, 28297620, 17785587, 18460650
TINF2 18252230, 18669893, 28297620, 21536674
RTEL1 24582487, 23329068, 23959892, 23829372, 28297620, 26025130, 25607374, 23453664, 24009516, 25848748
GAR1 22299032
WRAP53 28297620, 21602826, 21072240, 21205863, 25467444
NOP10 22965356, 28297620, 17507419
NHP2 22965356, 11160879, 28297620, 20008900
RMND5B
ACD 28297620
USB1 22160078, 20817924, 20004881
STN1 28297620
CTC1 22387016, 22899577, 29481669, 28297620, 22267198, 23869908, 24115768, 22532422, 22556055
NAF1 28297620
RTEL1-TNFRSF6B 23453664, 23959892, 23829372, 24009516, 26025130, 25607374, 25848748, 24582487, 23329068
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 C4225356 DKC1 10364516
PARN 25893599, 26342108, 25848748, 31448843
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 C4551974 INPP4A 21931702, 15849264
TERC 12090986, 11574891, 22285015, 22341970
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT C1851970 TERC
TERT
TINF2
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2 C3151443 TERT 18042801, 22285015, 17785587, 27069254, 21602826, 21483807, 16332973, 15814878, 16247010, 15885610, 18460650
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 4 C3151444 TERT 17785587
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 C3554656 RBM8A 17236129
RTEL1 25620558, 25099625, 23329068, 28930861, 23453664, 28495916, 26025130, 28099038, 24009516, 24582487, 27128385, 26808564, 25607374, 25047097, 19461895, 23591994, 23959892, 29146883, 27418648, 27415407
RTEL1-TNFRSF6B 24009516, 28099038, 25047097, 25607374, 19461895, 23959892, 23453664, 25620558, 26025130, 23329068, 27418648, 27128385, 25099625, 26808564, 27415407, 28930861
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 C3151445 TINF2 18252230, 21536674, 29483670, 18979121
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 4 C3808802 RTEL1
RTEL1-TNFRSF6B
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 C3151442 WRAP53 21602826, 21205863, 22285015
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1 C1857144 NOP10 17507419
Dyskeratosis Congenita, Autosomal Recessive C3502105 NOP10
NHP2
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2 C3151441 NHP2 18523010, 11160879, 25467444, 20008900
RMND5B
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 C4225284 ACD 25205116, 25233904