Harmonizome 3.0

Migraine, familial, with or without aura, susceptibility to

Osteoarthritis, generalized, without dysplasia, susceptibility to

tumor 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]

Pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to

Migraine with or without aura, susceptibility to, 5

leukocyte 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]

Ras-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]

Ras-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]

Hypertrichosis terminalis, generalized, with or without gingival hyperplasia

rabphilin 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]

anophthalmos 1 (with mental retardation, without limb anomalies or dental or urogenital abnormalities)

Migraine, with or without aura, susceptibility to, 12

aortic aneurysm, familial abdominal 1

Aneurysm, familial abdominal 3

Aortic aneurysm, familial abdominal 2

Aortic aneurysm, familial abdominal, 4

Epilepsy, familial temporal lobe, 6

cardiomyopathy, familial restrictive, 2

Atrial fibrillation, familial, 8

Hyperuricemic nephropathy, familial juvenile, 3

gliosis, familial progressive subcortical

Beukes familial hip dysplasia

Epilepsy, familial adult myoclonic, 4

Epilepsy, familial adult myoclonic, 3

Progressive familial heart block, type II

benign familial infantile convulsions

Progressive familial heart block, type I, locus 1

epilepsy, familial temporal lobe

Hyperaldosteronism, familial, type II

familial cortical myoclonic tremor with epilepsy 2

familial cortical myoclonic tremor with epilepsy 1

Glioma, familial, 1

Pseudohyperkalemia, familial, 2, due to red cell leak

Syncope, familial vasovagal

Convulsions, benign familial infantile, 4

Atrial fibrillation, familial 1

familial atrial fibrillation 2

X inactivation, familial skewed, 2

Benign familial infantile convulsions-2

Epilepsy, familial mesial temporal lobe

Stuttering, familial persistent, 3

Stuttering, familial persistent 2

Stuttering, familial persistent 1

Stuttering, familial persistent, 4

cancer, familial, with in vitro radioresistance

Migraine, familial typical, susceptibility to

Trichoepithelioma, multiple familial, 2

Febrile convulsions, familial, 9

Atrial fibrillation, familial, 5

Hypertriglyceridemia, familial

interstitial pneumonitis, desquamative, familial

Cardiomyopathy, familial hypertrophic, 21

candidiasis, familial 1

antiphospholipid syndrome, familial

eosinophilia, familial

Febrile convulsions, familial, 10

noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2

Thrombocytosis, familial X-linked

myasthenia gravis, familial infantile, 1

vestibulopathy, familial

Aortic aneurysm, familial thoracic 2

Aortic aneurysm, familial thoracic 1

Natural killer cell deficiency, familial isolated