ANKH |
5p15.1 |
Multipass transmembrane Protein |
Craniometaphyseal dysplasia - AD |
PAX4 |
7q32 |
Transcription Factors
|
|
STAR |
8p11.2 |
Acute regulation of steroid hormone synthesis |
Congenital adrenal hyperplasia |
ERlIN2 |
8p11.2 |
SPFH domain-containing family of lipid raft-associated proteins |
Spastic paraplegia-18 |
ADAM2 |
8p11.2 |
Cell-cell interaction & cell-cell matrix interaction
|
|
CBL |
11q23.3 |
Proto-oncogene |
Noonan syndrome-like disorder |
APOC 3 |
11q23.3 |
Apolipoprotein C III |
Hypertriglyceridemia due to increased expression |
ETS1 |
11q23.3 |
ETS family of transcription factors (activator/repressor)
|
|
HMBS |
11q23.3 |
Hydroxymethlylibane super family |
Acute intermittent porphyria – AD |
PVRL1 |
11q23.3 |
Adhesion protein |
Cleft lip and palate/ ectodermal dysplasia 1 syndrome |
TMPRSS4 |
11q23.3 |
Serine protease family |
Multiple human diseases and disorders due to malfunction |
C1QTNF5 |
11q23.3 |
Cell adhesion |
Late onset retinal degeneration |
DPAGT1 |
11q23.3 |
Catalytic enzyme |
Congenital disorder of glycosylation type Ij |
CEP164 |
11q23.3 |
Centrosomal protein
Microtubule organization
DNA damage response
Chromosome segregation
|
|
ARCN1 |
11q23.3 |
Intra-cellular protein |
Multiple disease-associated chromosome translocations |