Harmonizome 3.0

optic atrophy 6 (autosomal recessive)

optic atrophy 4 (autosomal dominant)

optic atrophy 5 (autosomal dominant)

optic atrophy 1 (autosomal dominant)

The protein encoded by this gene is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. The encoded protein localizes to the inner mitochondrial membrane and helps regulate mitochondrial stability and energy output. This protein also sequesters cytochrome c. Mutations in this gene have been associated with optic atrophy type 1, which is a dominantly inherited optic neuropathy resulting in progressive loss of visual acuity, leading in many cases to legal blindness. [provided by RefSeq, Aug 2017]

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

spastic paraplegia 27 (autosomal recessive)

spastic paraplegia 25 (autosomal recessive, with disc herniation)

spastic paraplegia 24 (autosomal recessive)

spastic paraplegia 21 (autosomal recessive, Mast syndrome)

The protein encoded by this gene binds to the hydrophobic C-terminal amino acids of CD4 which are involved in repression of T cell activation. The interaction with CD4 is mediated by the noncatalytic alpha/beta hydrolase fold domain of this protein. It is thus proposed that this gene product modulates the stimulatory activity of CD4. Mutations in this gene are associated with autosomal recessive spastic paraplegia 21 (SPG21), also known as mast syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]

cardiomyopathy, restrictive 1A (autosomal dominant)

deafness, autosomal dominant 7

deafness, autosomal dominant 5

Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

spastic paraplegia 23 (autosomal recessive)

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

deafness, autosomal recessive 45

mental retardation, non-syndromic, autosomal recessive, 10

deafness, autosomal recessive 20

deafness, autosomal recessive 26

deafness, autosomal recessive 27

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]

myopia 18 (high grade, autosomal recessive)

This locus was identified by linkage in one consanguineous Chinese family to lie between D14S984 and D14S999. [provided by RefSeq, Feb 2010]

Myopia 19, autosomal dominant

myopia 11 (high grade, autosomal dominant)

deafness, autosomal dominant 37

deafness, autosomal dominant 35

deafness, autosomal dominant 32

deafness, autosomal dominant 33

deafness, autosomal dominant 30

deafness, autosomal dominant 31

cardiomyopathy, restrictive 2A (autosomal recessive)

hypoacusis 2 (autosomal recessive)

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

deafness, autosomal recessive 75

spastic paraplegia 36 (autosomal dominant)

spinocerebellar ataxia, autosomal recessive 2

spinocerebellar ataxia, autosomal recessive 3

deafness, autosomal recessive 81

Cataract, autosomal recessive congenital 3

cataract, congenital nuclear, autosomal recessive

mental retardation, non-syndromic, autosomal recessive, 8

cornea plana 1 (autosomal dominant)

mental retardation, non-syndromic, autosomal recessive, 9

polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1

Predicted to enable signaling receptor activity. Predicted to be involved in immune response. Predicted to act upstream of or within sensory perception of sound. Predicted to be located in cytosol; extracellular space; and membrane. Implicated in autosomal recessive nonsyndromic deafness. [provided by Alliance of Genome Resources, Mar 2025]

spastic paraplegia 45 (autosomal recessive)

spastic paraplegia 41 (autosomal dominant)

This locus was defined in a Chinese family. Nineteen individuals were genotyped and the interval was defined between D11S1324 and D11S1933. [provided by RefSeq, Feb 2010]

fragile X mental retardation, autosomal homolog 1 pseudogene

cardiomyopathy, dilated 1K (autosomal dominant)

cardiomyopathy, dilated 1H (autosomal dominant)

cardiomyopathy, dilated 1F (autosomal dominant)

cardiomyopathy, dilated 1B (autosomal dominant)

polycystic kidney disease 1 (autosomal dominant) pseudogene 1

polycystic kidney disease 1 (autosomal dominant) pseudogene 2

polycystic kidney disease 1 (autosomal dominant) pseudogene 3

polycystic kidney disease 1 (autosomal dominant) pseudogene 4

polycystic kidney disease 1 (autosomal dominant) pseudogene 5

polycystic kidney disease 1 (autosomal dominant) pseudogene 6

polycystic kidney disease 3 (autosomal dominant)

polycystic kidney disease 2 (autosomal dominant)

This gene encodes a member of the polycystin protein family. The encoded protein is a multi-pass membrane protein that functions as a calcium permeable cation channel, and is involved in calcium transport and calcium signaling in renal epithelial cells. This protein interacts with polycystin 1, and they may be partners in a common signaling cascade involved in tubular morphogenesis. Mutations in this gene are associated with autosomal dominant polycystic kidney disease type 2. [provided by RefSeq, Mar 2011]

polycystic kidney disease 1 (autosomal dominant)

This gene encodes a member of the polycystin protein family. The encoded glycoprotein contains a large N-terminal extracellular region, multiple transmembrane domains and a cytoplasmic C-tail. It is an integral membrane protein that functions as a regulator of calcium permeable cation channels and intracellular calcium homoeostasis. It is also involved in cell-cell/matrix interactions and may modulate G-protein-coupled signal-transduction pathways. It plays a role in renal tubular development, and mutations in this gene cause autosomal dominant polycystic kidney disease type 1 (ADPKD1). ADPKD1 is characterized by the growth of fluid-filled cysts that replace normal renal tissue and result in end-stage renal failure. Splice variants encoding different isoforms have been noted for this gene. Also, six pseudogenes, closely linked in a known duplicated region on chromosome 16p, have been described. [provided by RefSeq, Oct 2008]

spastic paraplegia 7 (pure and complicated autosomal recessive)

This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]

spastic paraplegia 9 (autosomal dominant)

deafness, autosomal recessive 62

deafness, autosomal recessive 60

deafness, autosomal recessive 68

deafness, autosomal recessive 69

spastic paraplegia 11 (autosomal recessive)

The protein encoded by this gene is a potential transmembrane protein that is phosphorylated upon DNA damage. Defects in this gene are a cause of spastic paraplegia type 11 (SPG11). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2009]

limb girdle muscular dystrophy 1H (autosomal dominant)

limb girdle muscular dystrophy 1G (autosomal dominant)

dystonia 7, torsion (autosomal dominant)

dystonia 2, torsion (autosomal recessive)

mental retardation, non-syndromic, autosomal recessive, 25

mental retardation, non-syndromic, autosomal recessive, 4

Spondyloepiphyseal dysplasia tarda, autosomal dominant

deafness, autosomal recessive 85

This locus was defined by homozygosity mapping in a kindred of 42 enrolled individuals, between FAM18B2 and NF1. [provided by RefSeq, Feb 2010]

deafness, autosomal recessive 83

This locus, identified by homozygosity mapping, overlaps that of DFNA47. It may be that mutations of the same gene are responsible for recessive and dominant hearing loss. [provided by RefSeq, Feb 2010]

Laterality defects, autosomal dominant

spastic paraplegia 18 (autosomal dominant)

spastic paraplegia 19 (autosomal dominant)

spastic paraplegia 14 (autosomal recessive)

deafness, autosomal dominant 16

deafness, autosomal dominant 18

deafness, autosomal dominant 19

Hypospadias 3, autosomal

Usher syndrome 2A (autosomal recessive, mild)

This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

retinitis pigmentosa 1 (autosomal dominant)

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. The encoded protein is a photoreceptor microtubule-associated protein and is required for correct stacking of outer segment disc. This protein and the RP1L1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Because of its response to in vivo retinal oxygen levels, this protein was initially named ORP1 (oxygen-regulated protein-1). This protein was subsequently designated RP1 (retinitis pigmentosa 1) when it was found that mutations in this gene cause autosomal dominant retinitis pigmentosa. Mutations in this gene also cause autosomal recessive retinitis pigmentosa. Transcript variants resulted from an alternative promoter and alternative splicings have been found, which overlap the current reference sequence and has several exons upstream and downstream of the current reference sequence. However, the biological validity and full-length nature of some variants cannot be determined at this time.[provided by RefSeq, Sep 2010]

retinitis pigmentosa 9 (autosomal dominant)

The protein encoded by this gene can be bound and phosphorylated by the protooncogene PIM1 product, a serine/threonine protein kinase . This protein localizes in nuclear speckles containing the splicing factors, and has a role in pre-mRNA splicing. CBF1-interacting protein (CIR), a corepressor of CBF1, can also bind to this protein and effects alternative splicing. Mutations in this gene result in autosomal dominant retinitis pigmentosa-9. This gene has a pseudogene (GeneID: 441212), which is located in tandem array approximately 166 kb distal to this gene. [provided by RefSeq, Sep 2009]

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

deafness, autosomal recessive 59

The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]

deafness, autosomal recessive 57

deafness, autosomal recessive 56

deafness, autosomal recessive 55

erythrocytosis, autosomal recessive benign 2

dystonia 21, torsion (autosomal dominant)

retinitis pigmentosa 22 (autosomal recessive)

retinitis pigmentosa 29 (autosomal recessive)

Myopia 20, autosomal dominant

myopathy, hyaline body, autosomal recessive

nystagmus 2, congenital autosomal dominant

nystagmus 3, congenital autosomal dominant

nystagmus 4, congenital autosomal dominant

cardiomyopathy, dilated 1Q (autosomal dominant)

cirrhosis, autosomal recessive 1A (cirhin)

This gene encodes a WD40-repeat-containing protein that is localized to the nucleolus. Mutation of this gene causes North American Indian childhood cirrhosis, a severe intrahepatic cholestasis that results in transient neonatal jaundice, and progresses to periportal fibrosis and cirrhosis in childhood and adolescence. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Preauricular tag, isolated, autosomal dominant, 1

deafness, autosomal dominant 43

deafness, autosomal dominant 42

deafness, autosomal dominant 40

deafness, autosomal dominant 47

deafness, autosomal dominant 46

deafness, autosomal dominant 45

deafness, autosomal dominant 49

retinitis pigmentosa 32 (autosomal recessive)

deafness, autosomal recessive 66

deafness, autosomal recessive 65

cone rod dystrophy 1 (autosomal dominant)

deafness, autosomal recessive 58

deafness, autosomal recessive 50

deafness, autosomal recessive 71

myopia 12 (high grade, autosomal dominant)

ptosis, congenital 1 (autosomal dominant)

Usher syndrome 1K (autosomal recessive)

spastic paraplegia 34 (autosomal dominant)

spastic paraplegia 37 (autosomal dominant)

spastic paraplegia 38 (autosomal dominant, Silver syndrome)

amyotrophic lateral sclerosis 3 (autosomal dominant)

Spinal muscular atrophy, chronic distal, autosomal recessive

deafness, autosomal recessive 5

Ataxia, spastic, 3, autosomal recessive

deafness, autosomal recessive 38

deafness, autosomal recessive 31

This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016]

deafness, autosomal recessive 33

deafness, autosomal recessive 32

deafness, autosomal recessive 34

deafness, autosomal recessive 19

spastic ataxia 1 (autosomal dominant)

deafness, autosomal recessive 44

deafness, autosomal dominant 34

deafness, autosomal dominant 24

deafness, autosomal dominant 27

deafness, autosomal dominant 21

deafness, autosomal dominant 29

retinitis pigmentosa 9 (autosomal dominant) pseudogene

cone rod dystrophy 17 (autosomal dominant)

Usher syndrome 1H (autosomal recessive)

Usher syndrome 1C (autosomal recessive, severe)

This gene encodes a scaffold protein that functions in the assembly of Usher protein complexes. The protein contains PDZ domains, a coiled-coil region with a bipartite nuclear localization signal and a PEST degradation sequence. Defects in this gene are the cause of Usher syndrome type 1C and non-syndromic sensorineural deafness autosomal recessive type 18. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Usher syndrome 1G (autosomal recessive)

This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Usher syndrome 1E (autosomal recessive, severe)

hypercholesterolemia, autosomal dominant 4

Radiation sensitivity/chromosome instability syndrome, autosomal dominant

deafness, autosomal recessive 43

deafness, autosomal recessive 46

Parkinson disease 3 (autosomal dominant, Lewy body)

cataract, pulverulent (autosomal recessive, early-onset)

deafness, autosomal recessive 40

deafness, autosomal recessive 47

spastic paraplegia 32 (autosomal recessive)

deafness, autosomal recessive 51

spastic paraplegia 29 (autosomal dominant)

ocular albinism 3 (autosomal recessive)

microphthalmia, autosomal recessive

spastic paraplegia 5B (autosomal recessive)

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

deafness, autosomal dominant 54

deafness, autosomal dominant 57

deafness, autosomal dominant 52

deafness, autosomal dominant 53

deafness, autosomal dominant 58

This locus was identified to map between markers D2S2259 and D2S2114 in a Brazilian family with 12 individuals affected by bilateral post-lingual and progressive hearing loss. [provided by RefSeq, Feb 2010]

deafness, autosomal dominant 59

Ichthyosis, congenital, autosomal recessive 9

Ichthyosis, congenital, autosomal recessive 7

polycystic kidney and hepatic disease 1 (autosomal recessive)

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]

myopia 2 (high grade, autosomal dominant)

myopia 3 (high grade, autosomal dominant)

myopia 4 (high grade, autosomal dominant)

myopia 5 (high grade, autosomal dominant)

deafness, autosomal recessive 13

deafness, autosomal recessive 17

deafness, autosomal recessive 14

hypodontia 2 (autosomal recessive)

oculocutaneous albinism 5 (autosomal recessive)

retinitis pigmentosa 63 (autosomal dominant)

deafness, autosomal recessive 96

corneal endothelial dystrophy 1 (autosomal dominant)