Harmonizome 3.0

extracellular matrix protein 2, female organ and adipocyte specific

ECM2 encodes extracellular matrix protein 2, so named because it shares extensive similarity with known extracelluar matrix proteins. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2010]

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]

Epilepsy, idiopathic generalized, susceptibility to 4

Epilepsy, familial temporal lobe, 6

Epilepsy, familial adult myoclonic, 4

Epilepsy, familial adult myoclonic, 3

Epilepsy, idiopathic generalized, susceptibility to 3

Epilepsy, idiopathic generalized, susceptibility to 2

centralopathic epilepsy

Epilepsy, idiopathic generalized, susceptibility to, 5

epilepsy, familial temporal lobe

epilepsy, occipitotemporal lobe, and migraine with aura

familial cortical myoclonic tremor with epilepsy 2

familial cortical myoclonic tremor with epilepsy 1

Epilepsy, juvenile myoclonic 3

epilepsy, juvenile myoclonic 2

Myoclonic epilepsy, juvenile, 4

Epilepsy, juvenile myoclonic, susceptiblity to, 9

Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp

Generalized epilepsy with febrile seizures plus, type 8

Generalized epilepsy with febrile seizures plus, type 6

Epilepsy, generalized, with febrile seizures plus, type 4

epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)

This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]

Epilepsy, hot water, 1

Epilepsy, hot water, 2

Infantile myoclonic epilepsy

Epilepsy, familial mesial temporal lobe

Epilepsy, partial, with variable foci

epilepsy, childhood absence 1

epilepsy, generalized, idiopathic

Epilepsy, partial, with pericentral spikes

Epilepsy, nocturnal frontal lobe, type 2

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

Abidi X-linked mental retardation syndrome

mental retardation, X-linked 18

mental retardation, X-linked 11

mental retardation, X-linked 12

mental retardation, X-linked 15

mental retardation, X-linked 14

mental retardation, X-linked 17

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]

Mental retardation, X-linked 92

Mental retardation, X-linked 95

alpha-thalassemia/mental retardation syndrome, type 1

Mental health wellness 2

Mental health wellness 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

alpha thalassemia/mental retardation syndrome X-linked

The protein encoded by this gene contains an ATPase/helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins. This protein is found to undergo cell cycle-dependent phosphorylation, which regulates its nuclear matrix and chromatin association, and suggests its involvement in the gene regulation at interphase and chromosomal segregation in mitosis. Mutations in this gene are associated with X-linked syndromes exhibiting cognitive disabilities as well as alpha-thalassemia (ATRX) syndrome. These mutations have been shown to cause diverse changes in the pattern of DNA methylation, which may provide a link between chromatin remodeling, DNA methylation, and gene expression in developmental processes. Multiple alternatively spliced transcript variants encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2017]

cubitus valgus with mental retardation and unusual facies

mental retardation, X-linked 42

mental retardation, X-linked 40

mental retardation, X-linked 49

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

mental retardation, X-linked 37

mental retardation, X-linked 35

mental retardation, X-linked 31

mental retardation, X-linked 39

Alopecia-mental retardation syndrome 3

Alopecia with mental retardation syndrome 2

Alopecia-mental retardation syndrome

Choroideremia, deafness, and mental retardation

Mental retardation, X-linked, syndromic 17

Mental retardation, X-linked, syndromic 12

mental retardation, X-linked, syndromic 11

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

mental retardation, X-linked 69

mental retardation, X-linked 64

mental retardation, X-linked 65

mental retardation, X-linked 61

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

Armfield X-linked mental retardation syndrome

Lubs X-linked mental retardation syndrome

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

mental retardation, X-linked 57

mental retardation, X-linked 56

mental retardation, X-linked 51

mental retardation, X-linked 50

mental retardation, X-linked 53

mental retardation, X-linked 52

Miles-Carpenter X-linked mental retardation syndrome

Martin-Probst deafness-mental retardation syndrome

Prieto X-linked mental retardation syndrome

mental retardation, X-linked 66

mental retardation, X-linked 67

mental retardation, X-linked 5

mental retardation, X-linked 4

mental retardation, X-linked 7

mental retardation, X-linked 6 (Okinawa type)

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

mental retardation, X-linked 8

mental retardation, X-linked 82

mental retardation, X-linked 80

mental retardation, X-linked 81

mental retardation, X-linked 86

mental retardation, X-linked 84

Mental retardation, X-linked 88

Mental retardation, X-linked 89

Cerebellar hypoplasia, mental retardation, and quadrupedal locomotion

mental retardation, X-linked 28

Mental retardation, X-linked, syndromic, Chudley-Schwartz type

Gustavson mental retardation syndrome (with microcephaly, optic

mental retardation, X-linked 73

mental retardation, X-linked 71

mental retardation, X-linked 70

mental retardation, X-linked 75

mental retardation, X-linked, syndromic 7

mental retardation-skeletal dysplasia

Mental retardation, X-linked, with short stature

Mental retardation, severe, with spasticity and tapetoretinal

mental retardation, X-linked 77

mental retardation, X-linked 78

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

fragile X mental retardation 1 neighbor

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

mental retardation, X-linked 20

mental retardation, X-linked 23

mental retardation, X-linked 24

mental retardation, X-linked 25

mental retardation, X-linked 26

mental retardation, X-linked 27