Harmonizome 3.0

aristaless related homeobox

This gene is a homeobox-containing gene expressed during development. The expressed protein contains two conserved domains, a C-peptide (or aristaless domain) and the prd-like class homeobox domain. It is a member of the group-II aristaless-related protein family whose members are expressed primarily in the central and/or peripheral nervous system. This gene is thought to be involved in CNS development. Expansion of a polyalanine tract and other mutations in this gene cause X-linked cognitive disability and epilepsy. [provided by RefSeq, Jul 2016]

mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome

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

Generalized epilepsy with febrile seizures plus, type 8

Generalized epilepsy with febrile seizures plus, type 6

Epilepsy, generalized, with febrile seizures plus, type 4

mental retardation, non-syndromic, autosomal recessive, 28

Mental retardation, autosomal recessive 29

mental retardation, non-syndromic, autosomal recessive, 24

mental retardation, non-syndromic, autosomal recessive, 23

mental retardation, non-syndromic, autosomal recessive, 10

fragile X mental retardation 1

The protein encoded by this gene binds RNA and is associated with polysomes. The encoded protein may be involved in mRNA trafficking from the nucleus to the cytoplasm. A trinucleotide repeat (CGG) in the 5' UTR is normally found at 6-53 copies, but an expansion to 55-230 repeats is the cause of fragile X syndrome. Expansion of the trinucleotide repeat may also cause one form of premature ovarian failure (POF1). Multiple alternatively spliced transcript variants that encode different protein isoforms and which are located in different cellular locations have been described for this gene. [provided by RefSeq, May 2010]

fragile X mental retardation associated 3

Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1

The exact function of this gene is not known, however, submicroscopic deletion of the X chromosome including this gene, COL4A5, and FACL4 genes, result in a contiguous gene deletion syndrome, the AMME complex (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

fragile X mental retardation, autosomal homolog 1

The protein encoded by this gene is an RNA binding protein that interacts with the functionally-similar proteins FMR1 and FXR2. These proteins shuttle between the nucleus and cytoplasm and associate with polyribosomes, predominantly with the 60S ribosomal subunit. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

fragile X mental retardation, autosomal homolog 2

The protein encoded by this gene is a RNA binding protein containing two KH domains and one RCG box, which is similar to FMRP and FXR1. It associates with polyribosomes, predominantly with 60S large ribosomal subunits. This encoded protein may self-associate or interact with FMRP and FXR1. It may have a role in the development of fragile X cognitive disability syndrome. [provided by RefSeq, Jul 2008]

alpha-thalassemia/mental retardation syndrome, type 1

mental retardation, non-syndromic, autosomal recessive, 17

Mental retardation, autosomal recessive 16

mental retardation, non-syndromic, autosomal recessive, 11

mental retardation, non-syndromic, autosomal recessive, 19

cubitus valgus with mental retardation and unusual facies

mental retardation, non-syndromic, autosomal recessive, 8

Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis

mental retardation, non-syndromic, autosomal recessive, 9

fragile X mental retardation, autosomal homolog 1 pseudogene

Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome

nuclear fragile X mental retardation protein interacting protein 2

Enables RNA binding activity. Located in several cellular components, including cytoplasmic stress granule; nuclear body; and ribosome. [provided by Alliance of Genome Resources, Mar 2025]

nuclear fragile X mental retardation protein interacting protein 1

This gene encodes a nuclear RNA binding protein that contains a C2H2 zinc finger motif and a nuclear localization signal. This protein is associated with the nuclear matrix in perichromatin fibrils and, in neurons, localizes to the cytoplasm in association with endoplasmic reticulum ribosomes. This protein interacts with the fragile X mental retardation protein (FMRP), the tumor suppressor protein BRCA1, upregulates RNA polymerase II transcription, and is involved in box C/D snoRNP biogenesis. A pseudogene of this gene resides on chromosome 6q12. [provided by RefSeq, Feb 2012]

mental retardation, non-syndromic, autosomal recessive, 25

mental retardation, non-syndromic, autosomal recessive, 4

Alopecia-mental retardation syndrome 3

Alopecia with mental retardation syndrome 2

Alopecia-mental retardation syndrome

Choroideremia, deafness, and mental retardation

ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)

This gene encodes a transmembrane protein belonging to a family of proteins containing TLC domains, which are postulated to function in lipid synthesis, transport, or sensing. The protein localizes to the endoplasmic reticulum (ER), and may recycle between the ER and ER-Golgi intermediate compartment. Mutations in this gene are associated with a disorder characterized by progressive epilepsy with cognitive disabilities (EPMR), which is a subtype of neuronal ceroid lipofuscinoses (NCL). Patients with mutations in this gene have altered levels of sphingolipid and phospholipids in the brain. [provided by RefSeq, Jul 2017]

Mental retardation, autosomal recessive 33

Mental retardation, autosomal recessive 32

Mental retardation, autosomal recessive 31

Mental retardation, autosomal recessive 30

Mental retardation, autosomal recessive 35

mental retardation, non-syndromic, autosomal recessive, 27

nuclear fragile X mental retardation protein interacting protein 1 pseudogene

Microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations

Martin-Probst deafness-mental retardation syndrome

fragile site, folic acid type, rare, fra(X)(q27.3) A (macroorchidism, mental retardation)

Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion

Gustavson mental retardation syndrome (with microcephaly, optic

mental retardation-skeletal dysplasia

Mental retardation, severe, with spasticity and tapetoretinal

fragile X mental retardation 1 neighbor

Predicted to be located in membrane. [provided by Alliance of Genome Resources, Mar 2025]

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, familial, with or without aura, 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]

Migraine, with or without aura, susceptibility to, 12

Mental health wellness 2

Mental health wellness 1