| Location |
Symbol |
Title |
MIM # |
Disorder |
Comments |
Method |
Mouse |
| 7q11.2 |
POR |
Cytochrome P-450 reductase |
124015 |
Antley-Bixler syndrome-like with disordered steroidogenesis, 201750(3); Adrenal hyperplasia, congenital, due to combined P450C17 and P450C21 deficiency, 201750 (3); POR deficiency, 201750 (3); Disordered steroidogenesis,isolated, 201750 (3) |
|
REa, A |
|
| 7q11.2 |
PSPHL, CO9 |
Phosphoserine phosphatase-like |
604239 |
|
|
TM |
|
| 7q11.2 |
STX1A, STX1 |
Syntaxin 1A, brain |
186590 |
|
|
A, Psh |
|
| 7q11.2 |
ZNF107 |
Zinc finger protein-107 |
603989 |
|
|
A |
|
| 7q11.2 |
ZNF117 |
Zinc finger protein-117 |
194624 |
|
|
A |
|
| 7q11.2-q21 |
CCM1, CAM, KRIT1 |
KREV interaction trapped 1 |
604214 |
Cerebral cavernous malformations-1, 116860 (3); Hyperkeratoticcutaneous capillary-venous malformations associated with cerebral capillary malformations, 116860 (3); Cavernous malformations of CNS and retina, 116860(3) |
|
Fd, A |
|
| 7q11.2-q21.3 |
EEC1 |
Ectrodactyly, ectodermal dysplasia, cleft lip/palate, 1 |
129900 |
?EEC syndrome-1 (2) |
|
Ch |
|
| 7q11.21 |
KCTD7, EPM3 |
Potassium channel tetramerisation domain containing 7 |
611725 |
Epilepsy, progressive myoclonic 3, 611726 (3) |
|
REc, Fd |
|
| 7q11.21 |
RABGEF1, RABEX5 |
RAB guanine nucleotide exchange factor 1 |
609700 |
|
|
R, REc |
|
| 7q11.21 |
TPST1 |
Tyrosylprotein sulfotransferase 1 |
603125 |
|
|
REc |
|
| 7q11.21-q11.23 |
ZNF138 |
Zinc finger protein-138 |
604080 |
|
|
A, REa |
|
| 7q11.23 |
BCL7B |
B-cell CLL/lymphoma 7B |
605846 |
|
|
REc |
|
| 7q11.23 |
CCL24, SCYA24, MPIF2 |
Chemokine, C-C motif, ligand 24 |
602495 |
|
|
Psh, REc, R |
|
| 7q11.23 |
CLDN4, CPETR1, CPER |
Claudin 4 |
602909 |
|
|
Psh, H |
5(Cldn4) |
| 7q11.23 |
CLIP2, CYLN2, WBSCR4, WSCR4 |
CAP-GLY domain-containing linker protein 2 |
603432 |
|
?neurodevelpmental defect of Williams syndrome |
A, H |
5(Cyln2) |
| 7q11.23 |
DUP7q11.23, C7DUPq11.23 |
Chromosome 7q11.23 duplication syndrome |
609757 |
Chromosome 7q11.23 duplication syndrome (4) |
|
Ch |
|
| 7q11.23 |
EIF4H, WBSCR1, WSCR1 |
Eukaryotic translation initiation factor 4H |
603431 |
|
|
REc |
|
| 7q11.23 |
FKBP6 |
FK506-binding protein 6 |
604839 |
|
|
REc |
|
| 7q11.23 |
FZD9, FZD3 |
Frizzled, Drosophila, homolog of, 9 |
601766 |
|
|
REn |
|
| 7q11.23 |
GTF2I, BAP135, WBS |
General transcription factor II-I (BTK-associated protein, 135kD) |
601679 |
|
|
D |
|
| 7q11.23 |
GTF2IRD1, GTF3, MUSTRD1, WBS |
GTF21 repeat domain-containing protein 1 |
604318 |
|
|
REc |
|