Name

EBM Gene

epidermolysis bullosa, macular type

EBR3 Gene

epidermolysis bullosa 3, progressiva

EBR4 Gene

epidermolysis bullosa 4, pseudojunctional (intraepidermal)

OPA6 Gene

optic atrophy 6 (autosomal recessive)

OPA4 Gene

optic atrophy 4 (autosomal dominant)

OPA5 Gene

optic atrophy 5 (autosomal dominant)

OPA1 Gene

optic atrophy 1 (autosomal dominant)

This gene product is a nuclear-encoded mitochondrial protein with similarity to dynamin-related GTPases. It is a component of the mitochondrial network. 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. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

OPA3 Gene

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]

SPG27 Gene

spastic paraplegia 27 (autosomal recessive)

SPG25 Gene

spastic paraplegia 25 (autosomal recessive, with disc herniation)

SPG24 Gene

spastic paraplegia 24 (autosomal recessive)

SPG21 Gene

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]

CMR1A Gene

cardiomyopathy, restrictive 1A (autosomal dominant)

DFNA7 Gene

deafness, autosomal dominant 7

DFNA5 Gene

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]

SPG23 Gene

spastic paraplegia 23 (autosomal recessive)

MRT28 Gene

mental retardation, non-syndromic, autosomal recessive, 28

MRT29 Gene

Mental retardation, autosomal recessive 29

MRT24 Gene

mental retardation, non-syndromic, autosomal recessive, 24

MRT23 Gene

mental retardation, non-syndromic, autosomal recessive, 23

DFNB45 Gene

deafness, autosomal recessive 45

MRT10 Gene

mental retardation, non-syndromic, autosomal recessive, 10

DFNB20 Gene

deafness, autosomal recessive 20

DFNB26 Gene

deafness, autosomal recessive 26

DFNB27 Gene

deafness, autosomal recessive 27

FXR1 Gene

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]

FXR2 Gene

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 mental retardation syndrome. [provided by RefSeq, Jul 2008]

MYP18 Gene

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]

MYP19 Gene

Myopia 19, autosomal dominant

MYP11 Gene

myopia 11 (high grade, autosomal dominant)

DFNA37 Gene

deafness, autosomal dominant 37

DFNA35 Gene

deafness, autosomal dominant 35

DFNA32 Gene

deafness, autosomal dominant 32

DFNA33 Gene

deafness, autosomal dominant 33

DFNA30 Gene

deafness, autosomal dominant 30

DFNA31 Gene

deafness, autosomal dominant 31

CMR2A Gene

cardiomyopathy, restrictive 2A (autosomal recessive)

HOAC Gene

hypoacusis 2 (autosomal recessive)

MRT17 Gene

mental retardation, non-syndromic, autosomal recessive, 17

MRT16 Gene

Mental retardation, autosomal recessive 16

MRT11 Gene

mental retardation, non-syndromic, autosomal recessive, 11

MRT19 Gene

mental retardation, non-syndromic, autosomal recessive, 19

DFNB75 Gene

deafness, autosomal recessive 75

SPG36 Gene

spastic paraplegia 36 (autosomal dominant)

SCAR2 Gene

spinocerebellar ataxia, autosomal recessive 2

SCAR3 Gene

spinocerebellar ataxia, autosomal recessive 3

DFNB81 Gene

deafness, autosomal recessive 81

CTRCT34 Gene

Cataract, autosomal recessive congenital 3

CTRCT35 Gene

cataract, congenital nuclear, autosomal recessive

MRT8 Gene

mental retardation, non-syndromic, autosomal recessive, 8

CNA1 Gene

cornea plana 1 (autosomal dominant)

MRT9 Gene

mental retardation, non-syndromic, autosomal recessive, 9

PKHD1L1 Gene

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

SPG45 Gene

spastic paraplegia 45 (autosomal recessive)

SPG41 Gene

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]

LOC100132797 Gene

fragile X mental retardation, autosomal homolog 1 pseudogene

CMD1K Gene

cardiomyopathy, dilated 1K (autosomal dominant)

CMD1H Gene

cardiomyopathy, dilated 1H (autosomal dominant)

CMD1F Gene

cardiomyopathy, dilated 1F (autosomal dominant)

CMD1B Gene

cardiomyopathy, dilated 1B (autosomal dominant)

PKD1P1 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 1

PKD1P2 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 2

PKD1P3 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 3

PKD1P4 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 4

PKD1P5 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 5

PKD1P6 Gene

polycystic kidney disease 1 (autosomal dominant) pseudogene 6

PKD3 Gene

polycystic kidney disease 3 (autosomal dominant)

PKD2 Gene

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]

PKD1 Gene

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]

SPG7 Gene

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]

SPG9 Gene

spastic paraplegia 9 (autosomal dominant)

DFNB62 Gene

deafness, autosomal recessive 62

DFNB60 Gene

deafness, autosomal recessive 60

DFNB68 Gene

deafness, autosomal recessive 68

DFNB69 Gene

deafness, autosomal recessive 69

SPG11 Gene

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]

LGMD1H Gene

limb girdle muscular dystrophy 1H (autosomal dominant)

LGMD1G Gene

limb girdle muscular dystrophy 1G (autosomal dominant)

DYT7 Gene

dystonia 7, torsion (autosomal dominant)

DYT2 Gene

dystonia 2, torsion (autosomal recessive)

MRT25 Gene

mental retardation, non-syndromic, autosomal recessive, 25

MRT4 Gene

mental retardation, non-syndromic, autosomal recessive, 4

SPDT Gene

Spondyloepiphyseal dysplasia tarda, autosomal dominant

DFNB85 Gene

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]

DFNB83 Gene

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]

LATD Gene

Laterality defects, autosomal dominant

SPG18 Gene

spastic paraplegia 18 (autosomal dominant)

SPG19 Gene

spastic paraplegia 19 (autosomal dominant)

SPG14 Gene

spastic paraplegia 14 (autosomal recessive)

DFNA16 Gene

deafness, autosomal dominant 16

DFNA18 Gene

deafness, autosomal dominant 18

DFNA19 Gene

deafness, autosomal dominant 19

HYSP3 Gene

Hypospadias 3, autosomal

USH2A Gene

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]

RP1 Gene

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]

RP9 Gene

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]

MRT33 Gene

Mental retardation, autosomal recessive 33

MRT32 Gene

Mental retardation, autosomal recessive 32

MRT31 Gene

Mental retardation, autosomal recessive 31

MRT30 Gene

Mental retardation, autosomal recessive 30

MRT35 Gene

Mental retardation, autosomal recessive 35

MRT27 Gene

mental retardation, non-syndromic, autosomal recessive, 27

DFNB59 Gene

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]

DFNB57 Gene

deafness, autosomal recessive 57

DFNB56 Gene

deafness, autosomal recessive 56

DFNB55 Gene

deafness, autosomal recessive 55

ECB2 Gene

erythrocytosis, autosomal recessive benign 2

DYT21 Gene

dystonia 21, torsion (autosomal dominant)

RP22 Gene

retinitis pigmentosa 22 (autosomal recessive)

RP29 Gene

retinitis pigmentosa 29 (autosomal recessive)

MYP20 Gene

Myopia 20, autosomal dominant

MHB Gene

myopathy, hyaline body, autosomal recessive

NYS2 Gene

nystagmus 2, congenital autosomal dominant

NYS3 Gene

nystagmus 3, congenital autosomal dominant

NYS4 Gene

nystagmus 4, congenital autosomal dominant

CMD1Q Gene

cardiomyopathy, dilated 1Q (autosomal dominant)

CIRH1A Gene

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. [provided by RefSeq, Jul 2008]

PAURT1 Gene

Preauricular tag, isolated, autosomal dominant, 1

DFNA43 Gene

deafness, autosomal dominant 43

DFNA42 Gene

deafness, autosomal dominant 42

DFNA40 Gene

deafness, autosomal dominant 40

DFNA47 Gene

deafness, autosomal dominant 47

DFNA46 Gene

deafness, autosomal dominant 46

DFNA45 Gene

deafness, autosomal dominant 45

DFNA49 Gene

deafness, autosomal dominant 49

RP32 Gene

retinitis pigmentosa 32 (autosomal recessive)

DFNB66 Gene

deafness, autosomal recessive 66

DFNB65 Gene

deafness, autosomal recessive 65

CORD1 Gene

cone rod dystrophy 1 (autosomal dominant)

DFNB58 Gene

deafness, autosomal recessive 58

DFNB50 Gene

deafness, autosomal recessive 50

DFNB71 Gene

deafness, autosomal recessive 71

MYP12 Gene

myopia 12 (high grade, autosomal dominant)

PTOS1 Gene

ptosis, congenital 1 (autosomal dominant)

USH1K Gene

Usher syndrome 1K (autosomal recessive)

SPG34 Gene

spastic paraplegia 34 (autosomal dominant)

SPG37 Gene

spastic paraplegia 37 (autosomal dominant)

SPG38 Gene

spastic paraplegia 38 (autosomal dominant, Silver syndrome)

ALS3 Gene

amyotrophic lateral sclerosis 3 (autosomal dominant)

SMAR Gene

Spinal muscular atrophy, chronic distal, autosomal recessive

DFNB5 Gene

deafness, autosomal recessive 5

SPAX3 Gene

Ataxia, spastic, 3, autosomal recessive

DFNB38 Gene

deafness, autosomal recessive 38

DFNB31 Gene

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 of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010]

DFNB33 Gene

deafness, autosomal recessive 33

DFNB32 Gene

deafness, autosomal recessive 32

DFNB34 Gene

deafness, autosomal recessive 34

DFNB19 Gene

deafness, autosomal recessive 19

SAX1 Gene

spastic ataxia 1 (autosomal dominant)

DFNB44 Gene

deafness, autosomal recessive 44

DFNA34 Gene

deafness, autosomal dominant 34

DFNA24 Gene

deafness, autosomal dominant 24

DFNA27 Gene

deafness, autosomal dominant 27

DFNA21 Gene

deafness, autosomal dominant 21

DFNA29 Gene

deafness, autosomal dominant 29

LOC100421404 Gene

retinitis pigmentosa 9 (autosomal dominant) pseudogene

CORD17 Gene

cone rod dystrophy 17 (autosomal dominant)

USH1H Gene

Usher syndrome 1H (autosomal recessive)

USH1C Gene

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]

USH1G Gene

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]

USH1E Gene

Usher syndrome 1E (autosomal recessive, severe)

HCHOLA4 Gene

hypercholesterolemia, autosomal dominant 4

RSCIS Gene

Radiation sensitivity/chromosome instability syndrome, autosomal dominant

DFNB43 Gene

deafness, autosomal recessive 43

DFNB46 Gene

deafness, autosomal recessive 46

PARK3 Gene

Parkinson disease 3 (autosomal dominant, Lewy body)

CTPL1 Gene

cataract, pulverulent (autosomal recessive, early-onset)

DFNB40 Gene

deafness, autosomal recessive 40

DFNB47 Gene

deafness, autosomal recessive 47

SPG32 Gene

spastic paraplegia 32 (autosomal recessive)

DFNB51 Gene

deafness, autosomal recessive 51

SPG29 Gene

spastic paraplegia 29 (autosomal dominant)

OA3 Gene

ocular albinism 3 (autosomal recessive)

MCOP1 Gene

microphthalmia, autosomal recessive

SPG5B Gene

spastic paraplegia 5B (autosomal recessive)

LVNC2 Gene

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

DFNA54 Gene

deafness, autosomal dominant 54

DFNA57 Gene

deafness, autosomal dominant 57

DFNA52 Gene

deafness, autosomal dominant 52

DFNA53 Gene

deafness, autosomal dominant 53

DFNA58 Gene

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]

DFNA59 Gene

deafness, autosomal dominant 59

ARCI9 Gene

Ichthyosis, congenital, autosomal recessive 9

ARCI7 Gene

Ichthyosis, congenital, autosomal recessive 7

PKHD1 Gene

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]

MYP2 Gene

myopia 2 (high grade, autosomal dominant)

MYP3 Gene

myopia 3 (high grade, autosomal dominant)

MYP4 Gene

myopia 4 (high grade, autosomal dominant)

MYP5 Gene

myopia 5 (high grade, autosomal dominant)

DFNB13 Gene

deafness, autosomal recessive 13

DFNB17 Gene

deafness, autosomal recessive 17

DFNB14 Gene

deafness, autosomal recessive 14

HYD2 Gene

hypodontia 2 (autosomal recessive)

OCA5 Gene

oculocutaneous albinism 5 (autosomal recessive)

RP63 Gene

retinitis pigmentosa 63 (autosomal dominant)

DFNB96 Gene

deafness, autosomal recessive 96

CHED1 Gene

corneal endothelial dystrophy 1 (autosomal dominant)