| Name |
|---|
PAND1 GenePanic disorder 1 |
PAND2 Genepanic disorder 2 |
PAND3 Genepanic disorder 3 |
OS4 GeneOsteoarthritis, generalized, without dysplasia, susceptibility to |
TNFRSF10C Genetumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains an extracellular TRAIL-binding domain and a transmembrane domain, but no cytoplasmic death domain. This receptor is not capable of inducing apoptosis, and is thought to function as an antagonistic receptor that protects cells from TRAIL-induced apoptosis. This gene was found to be a p53-regulated DNA damage-inducible gene. The expression of this gene was detected in many normal tissues but not in most cancer cell lines, which may explain the specific sensitivity of cancer cells to the apoptosis-inducing activity of TRAIL. [provided by RefSeq, Jul 2008] |
CTEPH1 GenePulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to |
MGR3 GeneMigraine, familial, with or without aura, susceptibility to |
MGR5 GeneMigraine with or without aura, susceptibility to, 5 |
LILRA3 Geneleukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 This gene encodes a member of a family of immunoreceptors that are expressed predominantly in monocytes and B cells, and at lower levels in dendritic cells and natural killer cells. The encoded protein lacks the transmembrane region found in other members of this family. It acts as a soluble receptor for class I major histocompatibility complex (MHC) antigens. Alternatively spliced transcript variants encoding different isoforms have been found. This gene is located in a cluster of related genes on chromosome 19 and is polymorphic in human populations, with many individuals containing a deletion of this genomic region. [provided by RefSeq, Mar 2014] |
RIT2 GeneRas-like without CAAX 2 RIN belongs to the RAS (HRAS; MIM 190020) superfamily of small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by OMIM, Mar 2008] |
RIT1 GeneRas-like without CAAX 1 This gene encodes a member of a subfamily of Ras-related GTPases. The encoded protein is involved in regulating p38 MAPK-dependent signaling cascades related to cellular stress. This protein also cooperates with nerve growth factor to promote neuronal development and regeneration. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2012] |
HTGH GeneHypertrichosis terminalis, generalized, with or without gingival hyperplasia |
RPH3AL Generabphilin 3A-like (without C2 domains) The protein encoded by this gene plays a direct regulatory role in calcium-ion-dependent exocytosis in both endocrine and exocrine cells and plays a key role in insulin secretion by pancreatic cells. This gene is likely a tumor suppressor. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jun 2010] |
ANOP1 Geneanophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities) |
MGR12 GeneMigraine, with or without aura, susceptibility to, 12 |
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 |
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 |