Location |
Symbol |
Title |
MIM # |
Disorder |
Comments |
Method |
Mouse |
16p12 |
SMG1, LIP, KIAA0421 |
SMG1, C. elegans, homolog of |
607032 |
|
|
R, A |
|
16p12 |
TNRC6A, GW182, KIAA1460 |
Trinucleotide repeat-containing gene 6A |
610739 |
|
|
R, REc |
|
16p12 |
UQCRC2 |
Ubiquinol-cytochrome c reductase core protein II |
191329 |
|
|
A |
|
16p12-p11.2 |
AQP8 |
Aquaporin 8 |
603750 |
|
|
REa, A, H |
7(Aqp8) |
16p12-p11.2 |
ARL6IP, KIAA0069 |
ADP-ribosylation factor-like 6 interacting protein |
607669 |
|
|
A |
7(Arl6ip) |
16p12-p11.2 |
EPRPDC |
Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp |
608105 |
Epilepsy, rolandic, with paroxysmal exercise-induced dystonia andwriter's cramp (2) |
between D16S3133 and D16S3131 |
Fd |
|
16p12-p11.2 |
HSD3B7, PFIC4 |
3-beta-hydroxy-delta-5-C27-steroid oxidoreductase |
607764 |
Cholestasis, progressive familial intrahepatic 4, 607765 (3) |
|
R |
|
16p12-p11.2 |
PYCARD, TMS1, ASC |
PYD and CARD domain-containing protein (target of methylation-induced silencing 1) |
606838 |
|
|
A, R |
|
16p12-p11.2 |
RBBP6 |
Retinoblastoma-binding protein-6 |
600938 |
|
|
A |
|
16p12-p11 |
PPP4C, PP4, PPX |
Protein phosphatase 4, catalytic subunit |
602035 |
|
|
A |
|
16p12-q12 |
BFIC2 |
Benign familial infantile convulsions-2 |
605751 |
Convulsions, benign familial infantile, 2 (2) |
?ICCA, BFIC2, PKC all allelic |
Fd |
|
16p12-q12 |
MRT10 |
Mental retardation, autosomal recessive, 10 |
611096 |
Mental retardation, autosomal recessive, 10 (2) |
between rs724466 and rs3901517 |
Fd |
|
16p12-q12 |
ICCA |
Infantile convulsions and paroxysmal choreoathetosis |
602066 |
Convulsions, infantile and paroxysmal choreoathetosis (2) |
?ICCA, BFIC2, PKC all allelic |
Fd |
|
16p11.2 |
ALDOA |
Aldolase A, fructose-bisphosphatase |
103850 |
Aldolase A deficiency, 611881 (3) |
pseudogenes on 3 and 10 |
REa, REb, A, REc |
|
16p11.2 |
APOB48R |
Apolipoprotein B48 receptor |
605220 |
|
|
A, REc |
|
16p11.2 |
AUTS14 |
Autism, susceptibility to, 14 |
611913 |
{Autism, susceptibility to, 14} (2) |
|
Ch |
|
16p11.2 |
C16orf53, PA1 |
PTIP-associated 1 protein |
612033 |
|
|
REc |
|
16p11.2 |
CD19 |
CD19 antigen |
107265 |
Antibody deficiency due to defect in CD19 (3) |
|
Psh, A |
|
16p11.2 |
DOC2A |
Double C2-like domain-containing protein, alpha |
604567 |
|
|
R, REc |
|
16p11.2 |
EIF3C, EIF3S8 |
Eukaryotic translation initiation factor 3, subunit C |
603916 |
|
|
REc |
|
16p11.2 |
ERAF, EDRF, AHSP |
Erythroid-associated factor (alpha-hemoglobin stabilizing protein) |
605821 |
|
|
REc |
|