| Name |
|---|
ABT1P1 Geneactivator of basal transcription 1 pseudogene 1 |
BCC5 GeneBasal cell carcinoma, susceptibility to, 5 |
ABT1 Geneactivator of basal transcription 1 Basal transcription of genes by RNA polymerase II requires the interaction of TATA-binding protein (TBP) with the core region of class II promoters. Studies in mouse suggest that the protein encoded by this gene likely activates basal transcription from class II promoters by interaction with TBP and the class II promoter DNA. [provided by RefSeq, Jul 2008] |
BCC6 GeneBasal cell carcinoma, susceptibility to, 6 |
BCC4 GeneBasal cell carcinoma, susceptibility to, 4 |
BCC1 GeneBasal cell carcinoma, susceptibility to, 1 |
BCC2 GeneBasal cell carcinoma, susceptibility to, 2 |
BCC3 GeneBasal cell carcinoma, susceptibility to, 3 |
IBGC1 Geneidiopathic basal ganglia calcification 1 |
IBGC2 GeneBasal ganglia calcification, idiopathic, 2 |
BCAM Genebasal cell adhesion molecule (Lutheran blood group) This gene encodes Lutheran blood group glycoprotein, a member of the immunoglobulin superfamily and a receptor for the extracellular matrix protein, laminin. The protein contains five extracellular immunoglobulin domains, a single transmembrane domain, and a short C-terminal cytoplasmic tail. This protein may play a role in epithelial cell cancer and in vaso-occlusion of red blood cells in sickle cell disease. Polymorphisms in this gene define some of the antigens in the Lutheran system and also the Auberger system. Inactivating variants of this gene result in the recessive Lutheran null phenotype, Lu(a-b-), of the Lutheran blood group. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] |
BBOF1 Genebasal body orientation factor 1 Predicted to be involved in sperm axoneme assembly. Predicted to act upstream of or within several processes, including cilium movement involved in cell motility; negative regulation of microtubule depolymerization; and protein stabilization. Predicted to be located in axoneme; ciliary basal body; and sperm flagellum. [provided by Alliance of Genome Resources, Mar 2025] |
SSD GeneSpeech-sound disorder |
OHDS GeneOrthostatic hypotensive disorder of Streeten |
MAFD9 GeneMajor affective disorder-9, susceptibility to |
MAFD8 GeneMajor affective disorder-8, susceptibility to |
MAFD5 GeneMajor affective disorder 5 |
MAFD1 Genemajor affective disorder 1 |
MAFD3 GeneMajor affective disorder 3, early onset |
MDD2 GeneMajor depressive disorder 2 |
MDD1 GeneMajor depressive disorder |
MAFD2 Genemajor affective disorder 2 |
MAFD4 GeneMajor affective disorder 4 |
MAFD6 GeneMajor affective disorder 6 |
ADHD2 GeneAttention deficit-hyperactivity disorder, susceptibility to, 2 |
HDL3 GeneHuntington-like neurodegenerative disorder 2 |
PAND1 GenePanic disorder 1 |
PAND2 Genepanic disorder 2 |
PAND3 Genepanic disorder 3 |
BDET GeneBleeding disorder, east Texas type |
ADHD4 GeneAttention deficit-hyperactivity disorder, susceptibility to, 4 |
ADHD5 GeneAttention deficit-hyperactivity disorder, susceptibility to, 5 |
ADHD6 GeneAttention deficit-hyperactivity disorder, susceptibility to, 6 |
ADHD1 GeneAttention deficit-hyperactivity disorder, susceptibility to, 1 |
ADHD3 GeneAttention deficit-hyperactivity disorder, susceptibility to, 2 |
SCZD8 Geneschizophrenia disorder 8 |
SCZD7 Geneschizophrenia disorder 7 |
SCZD6 Geneschizophrenia disorder 6 |
SCZD1 Geneschizophrenia disorder 1 |
SCZD3 Geneschizophrenia disorder 3 |
SCZD10 Geneschizophrenia disorder 10 (periodic catatonia) |
NDNC9 GeneNail disorder, nonsyndromic congenital, 9 |
CLA3 Genecerebellar ataxia 3 (cerebellar parenchyma disorder 1) |
SCZD2 Geneschizophrenia disorder 2 |
PDR Genepigment disorder, reticulate |