Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the CC2D2A gene. This gene encodes a coiled-coil and calcium binding domain protein...
5 KB (611 words) - 01:09, 6 March 2022
213300 INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, BRCC3 Brain Leber congenital amaurosis 204000 GUCY2D, RPE65 McKusick–Kaufman...
35 KB (2,499 words) - 18:40, 12 July 2024
TMEM216 MKS3 607361 TMEM67 MKS4 611134 CEP290 MKS5 611561 RPGRIP1L MKS6 612284 CC2D2A MKS7 608002 NPHP3 MKS8 613846 TCTN2 MKS9 614144 B9D1 MKS10 611951 B9D2...
11 KB (1,016 words) - 00:12, 3 December 2024
recessive JBTS7 611560 RPGRIP1L 16q12.2 JBTS8 612291 ARL13B 3q11.1 JBTS9 612285 CC2D2A 4p15.32 Autosomal recessive JBTS10 300804 OFD1 Xp22.2 X-linked recessive...
18 KB (1,543 words) - 12:28, 11 June 2024
anophthalmia, and coloboma: ABCB6 ACTB ACTG1 ALDH1A3 ATOH7 BCOR BMP4 BMP7 C12orf57 CC2D2A CHD7 CLDN19 COX7B CRIM1 CRYAA CRYBA4 CRYBB2 DHX38 DPYD ERCC1 ERCC5 FADD...
25 KB (2,173 words) - 08:38, 29 October 2024
syndrome INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, OFD1, TMEM138, TCTN3, ZNF423, AMRC9 Juvenile-onset dystonia ACTB, IMPDH2...
43 KB (995 words) - 00:47, 12 December 2024
A6NI87 2243 CC2D1A HGNC:30237 Q6P1N0 2244 CC2D1B HGNC:29386 Q5T0F9 2245 CC2D2A HGNC:29253 Q9P2K1 2246 CC2D2B HGNC:31666 Q6DHV5 2247 CCAR1 HGNC:24236 Q8IX12...
277 KB (17 words) - 18:34, 6 October 2024
be accredited. CC2D2A and RPGRIP1L genes may also have some minor contributions, with around 8.7% reporting a mutation on the CC2D2A gene and 4.3% on...
20 KB (1,969 words) - 02:27, 1 January 2024
609535; CYP2C Clubfoot, congenital; 119800; PITX1 COACH syndrome; 216360; CC2D2A COACH syndrome; 216360; RPGRIP1L COACH syndrome; 216360; TMEM67 Cockayne...
234 KB (18,877 words) - 06:16, 6 November 2024