Name

PAND1 Gene

Panic disorder 1

PAND2 Gene

panic disorder 2

PAND3 Gene

panic disorder 3

OS4 Gene

Osteoarthritis, generalized, without dysplasia, susceptibility to

TNFRSF10C Gene

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]

CTEPH1 Gene

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

MGR3 Gene

Migraine, familial, with or without aura, susceptibility to

MGR5 Gene

Migraine with or without aura, susceptibility to, 5

LILRA3 Gene

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]

RIT2 Gene

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]

RIT1 Gene

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]

HTGH Gene

Hypertrichosis terminalis, generalized, with or without gingival hyperplasia

RPH3AL Gene

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]

ANOP1 Gene

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

MGR12 Gene

Migraine, with or without aura, susceptibility to, 12

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

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