Gene |
Gene
OMIM |
Disease |
Disease
OMIM |
Comment |
Price
in Euro |
| ABCR (ABCA4) |
|
STARGARDT DISEASE, TYPE 1
» MACULAR DEGENERATION, JUVENILE
» FUNDUS FLAVIMACULATUS
» MACULAR DYSTROPHY WITH FLECKS, TYPE 1 |
248200 |
|
2200 |
| ADAMTS18 (A DISINTEGRIN-LIKE AND METALLOPROTEINASE WITH THROMBOSPONDIN TYPE 1 MOTIF, 10) |
607929 |
WEILL-MARCHESANI SYNDROME (AUTOSOMAL RECESSIVE)
» SPHEROPHAKIA-BRACHYMORPHIA SYNDROME
» MESODERMAL DYSMORPHODYSTROPHY, CONGENITAL |
277600 |
|
1800 |
| CCM2 (MALCAVERNIN) |
608990 |
CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 2
» CAVERNOUS ANGIOMA, FAMILIAL, TYPE 2
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 2 |
277600 |
|
2200 |
| KRIT1 (KREV INTERACTION TRAPPED 1; CCM1) |
604214 |
CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 1
» CAVERNOUS ANGIOMA, FAMILIAL, TYPE 1
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 1 |
116860 |
|
3300 |
| PDCD10 (PROGRAMMED CELL DEATH 10) |
609118 |
CEREBRAL CAVERNOUS MALFORMATIONS, TYPE 3
» CAVERNOUS ANGIOMA, FAMILIAL, TYPE 3
» HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS, TYPE 3 |
603285 |
|
1700 |
| SMC3 (STRUCTURAL MAINTENANCE OF CHROMOSOMES 3; CHONDROITIN SULFATE PROTEOGLYCAN 6; BAMACAN) |
606062 |
CORNELIA DE LANGE SYNDROME, TYPE 3 |
610759 |
|
1200 |
