Collagen, type IX, alpha 1 (redirect from COL9A1)
Collagen alpha-1(IX) chain is a protein that in humans is encoded by the COL9A1 gene. This gene encodes one of the three alpha chains of type IX collagen...
8 KB (1,045 words) - 21:12, 21 November 2023
include COL9A1, COL9A2, COL9A3, COMP, and MATN3. Types include: In the dominant form, mutations in five genes are causative: COMP (chromosome 19), COL9A1 (chromosome...
23 KB (2,399 words) - 04:17, 17 December 2023
dystrophy 2 IX FACIT collagen, cartilage, assoc. with type II and XI fibrils COL9A1, COL9A2, COL9A3 EDM2 and EDM3 X Hypertrophic and mineralizing cartilage...
70 KB (7,740 words) - 11:00, 27 May 2024
association between SNP rs6910140 of COL9A1 and Kashin–Beck disease was discovered genetically, suggesting a role of COL9A1 in the development of Kashin–Beck...
12 KB (1,534 words) - 10:26, 10 February 2024
PTPRT DLNP_87 unknown unknown brain None None unknown None SLC9C1, NPSR1, COL9A1, RP11-421N8.3 DLNP_88 unknown unknown brain None None unknown None IFNG-AS1...
171 KB (1,209 words) - 00:56, 5 June 2024
syndrome, COL11A1 Stickler syndrome, COL11A2 (non-ocular) Stickler syndrome, COL9A1 (recessive variant) Stickler syndrome, COL9A2 (recessive variant) Stickler...
11 KB (1,285 words) - 13:04, 2 June 2024
28:10,000 Stickler syndrome (multiple forms) COL11A1, COL11A2, COL2A1, COL9A1 dominant or recessive 1:7,500-9,000 (U.S.) Strudwick syndrome (spondyloepimetaphyseal...
42 KB (969 words) - 16:02, 3 April 2024
cases), COL11A1 (also Marshall syndrome), COL11A2 (non-ocular Stickler) and COL9A1 (recessive Stickler). The gene involved helps regulate how the body makes...
4 KB (361 words) - 18:30, 29 June 2023
CNTNAP3, CNTNAP3B, CNTNAP4, CNTNAP5), some collagens (COL5A1, COL5A3, COL9A1, COL11A1, COL11A2, COL12A1, COL14A1, COL15A1, COL16A1, COL18A1, COL19A1...
31 KB (3,428 words) - 16:12, 7 June 2024
HGNC:2214 Q02388 3366 COL8A1 HGNC:2215 P27658 3367 COL8A2 HGNC:2216 P25067 3368 COL9A1 HGNC:2217 P20849 3369 COL9A2 HGNC:2218 Q14055 3370 COL9A3 HGNC:2219 Q14050...
277 KB (17 words) - 23:17, 27 April 2024
collagen (COL9A1)". Genomics. 17 (3): 694–8. doi:10.1006/geno.1993.1391. PMID 8244386. Pihlajamaa T, Vuoristo MM, Annunen S, et al. (1998). "Human COL9A1 and...
8 KB (1,000 words) - 10:03, 2 June 2024
and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13". Genomics...
6 KB (743 words) - 21:16, 21 November 2023
and assignment of alpha 1(XII) collagen (COL12A1), alpha 1(IX) collagen (COL9A1), and alpha 1(XIX) collagen (COL19A1) to human chromosome 6q12-q13". Genomics...
8 KB (944 words) - 05:41, 28 April 2024
Czarny-Ratajczak M, Lohiniva J, Rogala P, et al. (2001). "A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity"...
7 KB (940 words) - 22:36, 27 December 2023