Name

ABT1P1 Gene

activator of basal transcription 1 pseudogene 1

BCC5 Gene

Basal cell carcinoma, susceptibility to, 5

ABT1 Gene

activator 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 Gene

Basal cell carcinoma, susceptibility to, 6

BCC4 Gene

Basal cell carcinoma, susceptibility to, 4

BCC1 Gene

Basal cell carcinoma, susceptibility to, 1

BCC2 Gene

Basal cell carcinoma, susceptibility to, 2

BCC3 Gene

Basal cell carcinoma, susceptibility to, 3

IBGC1 Gene

idiopathic basal ganglia calcification 1

IBGC2 Gene

Basal ganglia calcification, idiopathic, 2

BCAM Gene

basal 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 Gene

basal 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 Gene

Speech-sound disorder

OHDS Gene

Orthostatic hypotensive disorder of Streeten

MAFD9 Gene

Major affective disorder-9, susceptibility to

MAFD8 Gene

Major affective disorder-8, susceptibility to

MAFD5 Gene

Major affective disorder 5

MAFD1 Gene

major affective disorder 1

MAFD3 Gene

Major affective disorder 3, early onset

MDD2 Gene

Major depressive disorder 2

MDD1 Gene

Major depressive disorder

MAFD2 Gene

major affective disorder 2

MAFD4 Gene

Major affective disorder 4

MAFD6 Gene

Major affective disorder 6

ADHD2 Gene

Attention deficit-hyperactivity disorder, susceptibility to, 2

HDL3 Gene

Huntington-like neurodegenerative disorder 2

PAND1 Gene

Panic disorder 1

PAND2 Gene

panic disorder 2

PAND3 Gene

panic disorder 3

BDET Gene

Bleeding disorder, east Texas type

ADHD4 Gene

Attention deficit-hyperactivity disorder, susceptibility to, 4

ADHD5 Gene

Attention deficit-hyperactivity disorder, susceptibility to, 5

ADHD6 Gene

Attention deficit-hyperactivity disorder, susceptibility to, 6

ADHD1 Gene

Attention deficit-hyperactivity disorder, susceptibility to, 1

ADHD3 Gene

Attention deficit-hyperactivity disorder, susceptibility to, 2

SCZD8 Gene

schizophrenia disorder 8

SCZD7 Gene

schizophrenia disorder 7

SCZD6 Gene

schizophrenia disorder 6

SCZD1 Gene

schizophrenia disorder 1

SCZD3 Gene

schizophrenia disorder 3

SCZD10 Gene

schizophrenia disorder 10 (periodic catatonia)

NDNC9 Gene

Nail disorder, nonsyndromic congenital, 9

CLA3 Gene

cerebellar ataxia 3 (cerebellar parenchyma disorder 1)

SCZD2 Gene

schizophrenia disorder 2

PDR Gene

pigment disorder, reticulate