|
GENE
|
LOCUS or SYNDROME
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LAST UPDATED
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CURATOR
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CDH23
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DFNB12
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9/18/2002
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Usher Syndrome,
Type 1D
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9/18/2002
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CLD14
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DFNB29
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9/18/2002
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COCH
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DFNA9
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9/18/2002
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COL2A1
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Achondrogenesis II
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9/18/2002
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Hypochondrogenesis
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9/18/2002
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Kniest Dysplasia
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9/18/2002
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Spondylarthopathy
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9/18/2002
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Spondyloepiphyseal
Dysplasia
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9/18/2002
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Stickler Syndrome, Type I
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9/18/2002
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COL4A3
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Alport Syndrome
|
9/18/2002
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Benign Familial
Hematuria
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9/18/2002
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COL4A4
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Alport Syndrome
|
9/18/2002
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Alport Syndrome
Dominant
|
9/18/2002
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Benign Familial
Hematuria
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9/18/2002
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Thin Basement
Membrane Disease
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9/18/2002
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COL4A5
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Alport Syndrome
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9/18/2002
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COL11A1
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Stickler Syndrome, Type II
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9/18/2002
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Marshall Syndrome
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9/18/2002
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COL11A2
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DFNA13
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9/18/2002
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Osteochondrodysplasia
|
9/18/2002
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Otospondylomegaepiphyseal
Dysplasia
|
9/18/2002
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Stickler Syndrome, Type III
|
9/18/2002
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Weissenbacher-Zweymuller Syndrome
|
9/18/2002
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DDP
(TIMM8A)
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DFN1 = Mohr-Tranebjaerg
|
9/18/2002
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DFNA5
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DFNA5
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9/18/2002
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DSPP
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DFNA39 -Dentinogenesis Imperfecta 1
|
9/18/2002
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EDN3
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Central Hypoventilation Syndrome
|
9/18/2002
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Hirschsprung Disease
|
9/18/2002
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Waardenburg IV
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9/18/2002
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EDNRB
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Hirschsprung Disease
|
9/18/2002
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Waardenburg IV
|
9/18/2002
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EYA1
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Brachiooto Syndrome
|
9/18/2002
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Brachiootorenal Syndrome
|
9/18/2002
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Iris Anomaly
|
9/18/2002
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Peters' anomaly
with cataracts
|
9/18/2002
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EYA4
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DFNA10
|
9/18/2002
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FLJ13782
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DFNA28
|
9/18/2002
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GJA1
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Recessive Hearing
Loss
|
9/18/2002
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Heart Malformations?
|
9/18/2002
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GJB2
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DFNA3
|
9/18/2002
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Connexins
and Deafness Webpage
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DFNB1
|
9/18/2002
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Connexins
and Deafness Webpage
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Keratitis-Ichthyosis-Deafness Syndrome
|
9/18/2002
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Connexins
and Deafness Webpage
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Palmoplantar
Hyperkeratosis
|
9/18/2002
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Connexins
and Deafness Webpage
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Palmoplantar
Keratoderma
|
9/18/2002
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Connexins
and Deafness Webpage
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Vohwinkel's
Syndrome
|
9/18/2002
|
Connexins
and Deafness Webpage
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GJB3
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DFNA2
|
9/18/2002
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Erythrokeratodermia
Variabilis
|
9/18/2002
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Neuropathy
and Hearing Impairment
|
9/18/2002
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Recessive Deafness
|
9/18/2002
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GJB6
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DFNA3
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9/18/2002
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Hidrotic Ectodermal
Dysplasia (Clouston Syndrome)
|
9/18/2002
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HDIA1
(DIAPH1)
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DFNA1
|
9/18/2002
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KCNE1/IsK
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Jervell and
Lange-Nielson Syndrome
|
9/18/2002
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Long QT Syndrome
|
9/18/2002
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KCNQ1
|
Jervell and
Lange-Nielson Syndrome
|
9/18/2002
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Long QT Syndrome
|
9/18/2002
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KCNQ4
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DFNA2
|
9/18/2002
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MITF
|
Tietz Syndrome
|
9/18/2002
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Waardenburg II
|
9/18/2002
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MYH9
|
Alport Syndrome
with macrothrombocytopenia (MYH9)
|
9/18/2002
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DFNA17
|
9/18/2002
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Epstein Syndrome
|
9/18/2002
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Fechtner Syndrome
|
9/18/2002
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May-Hegglin
Anomaly/ Sebastian Syndrome
|
9/18/2002
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MYO3A
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DFNB30
|
9/18/2002
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MYO6
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DFNA22
|
9/18/2002
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MYO7A
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DFNA11
|
9/18/2002
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DFNB2
|
9/18/2002
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Usher Syndrome,
Type 1B
|
9/18/2002
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MYO15
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DFNB3
|
9/18/2002
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Smith-Magenis
|
9/18/2002
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NDP
|
Coats' Disease
|
9/18/2002
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Familial Exudative
Vitreoretinopathy
|
9/18/2002
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Norrie Disease
|
9/18/2002
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Retinopathy
of Prematurity
|
9/18/2002
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OTOF
|
DFNB9
|
9/18/2002
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NSRAN
|
9/18/2002
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PAX3
|
Waardenburg I/III
|
9/18/2002
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Craniofacial-Deafness-
Hand Syndrome
|
9/18/2002
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PCDH15
|
Usher Syndrome,
Type 1F
|
9/18/2002
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PDS
(SLC26A4)
|
DFNB4
|
9/18/2002
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Pendred Syndrome
|
9/18/2002
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POU3F4
|
DFN3
|
9/18/2002
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POU4F3
|
DFNA15
|
9/18/2002
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SOX10
|
Peripheral
nueropathy with hypomyelination +deafness
|
9/18/2002
|
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Waardenburg IV
|
9/18/2002
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Yemenite Deaf-Blind
Hypopigmentation (Mild)
|
9/18/2002
|
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STRC
|
DFNB16
|
9/18/2002
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TCOF1
|
Treacher Collins
|
9/18/2002
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TECTA
|
DFNA8/12
|
9/18/2002
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DFNB21
|
9/18/2002
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TMC1
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DFNA36
|
9/18/2002
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DFNB7/11
|
9/18/2002
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TMIE
|
DFNB6
|
9/18/2002
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TMPRSS3
|
DFNB8/10
|
9/18/2002
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USH1C
|
Usher Syndrome,
Type 1C
|
9/18/2002
|
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Nonsyndromic
Recessive Deafness
|
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USH2A
|
Usher Syndrome,
Type 2A
|
9/18/2002
|
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Recessive Retinitis
Pigmentosa without hearing loss
|
9/18/2002
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USH3
|
Usher Syndrome,
Type 3
|
9/18/2002
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WFS1
|
Affective Disorder
|
9/18/2002
|
WFS1
website
|
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DFNA6/14/38
|
9/18/2002
|
WFS1
website
|
|
|
Diabetes type I association
|
9/18/2002
|
WFS1
website
|
|
|
Diabetes type II ?
|
9/18/2002
|
WFS1
website
|
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|
Wolfram Syndrome
|
9/18/2002
|
WFS1
website
|
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12S
rRNA
|
Associatd with
ototoxicity
|
9/18/2002
|
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tRNA
ile
|
Associated
with cardiomyopathy
|
9/18/2002
|
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tRNA
leu(UUR)
|
Associated
with diabetes mellitus
|
9/18/2002
|
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tRNA
lys
|
Associated
with diabetes mellitus
|
9/18/2002
|
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|
tRNA
ser(AGY)
|
Associated
with retinitis pigmentosa
|
9/18/2002
|
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tRNA
ser(UCN)
|
Associated
with palmoplantar keratoderma
|
9/18/2002
|
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|
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tRNA
trp(UCN)
|
Associated
with cutaneous hypopigmentation
|
9/18/2002
|
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|
|
COX1
|
Associated
with COX1 deficiency
|
9/18/2002
|
|
