|
| Entrez Id: |
6103 |
| Gene Symbol: |
RPGR |
RPGR
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Spectrum of mutations in the RPGR gene that are identified in 20% of families with X-linked retinitis pigmentosa.
|
9399904 |
1997 |
|
| Entrez Id: |
6103 |
| Gene Symbol: |
RPGR |
RPGR
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
X-linked retinitis pigmentosa in two families with a missense mutation in the RPGR gene and putative change of glycine to valine at codon 60.
|
9855162 |
1998 |
|
| Entrez Id: |
27019 |
| Gene Symbol: |
DNAI1 |
DNAI1
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.
|
10577904 |
1999 |
|
| Entrez Id: |
6103 |
| Gene Symbol: |
RPGR |
RPGR
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
X-linked retinitis pigmentosa: mutation spectrum of the RPGR and RP2 genes and correlation with visual function.
|
10937588 |
2000 |
|
| Entrez Id: |
27019 |
| Gene Symbol: |
DNAI1 |
DNAI1
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).
|
11231901 |
2001 |
|
| Entrez Id: |
27019 |
| Gene Symbol: |
DNAI1 |
DNAI1
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Germline mutations in an intermediate chain dynein cause primary ciliary dyskinesia.
|
11713099 |
2001 |
|
| Entrez Id: |
27019 |
| Gene Symbol: |
DNAI1 |
DNAI1
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome).
|
11231901 |
2001 |
|
| Entrez Id: |
1767 |
| Gene Symbol: |
DNAH5 |
DNAH5
|
Ciliary Motility Disorders
|
0.310 |
CausalMutation |
CLINVAR |
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
|
11788826 |
2002 |
|
| Entrez Id: |
1767 |
| Gene Symbol: |
DNAH5 |
DNAH5
|
Ciliary Motility Disorders
|
0.310 |
GeneticVariation |
CLINVAR |
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.
|
11788826 |
2002 |
|
| Entrez Id: |
1767 |
| Gene Symbol: |
DNAH5 |
DNAH5
|
Ciliary Motility Disorders
|
0.310 |
GeneticVariation |
CLINVAR |
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
|
16627867 |
2006 |
|
| Entrez Id: |
1767 |
| Gene Symbol: |
DNAH5 |
DNAH5
|
Ciliary Motility Disorders
|
0.310 |
CausalMutation |
CLINVAR |
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
|
16627867 |
2006 |
|
| Entrez Id: |
27019 |
| Gene Symbol: |
DNAI1 |
DNAI1
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.
|
16858015 |
2006 |
|
| Entrez Id: |
27019 |
| Gene Symbol: |
DNAI1 |
DNAI1
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation.
|
16858015 |
2006 |
|
| Entrez Id: |
64446 |
| Gene Symbol: |
DNAI2 |
DNAI2
|
Ciliary Motility Disorders
|
0.300 |
GeneticVariation |
CLINVAR |
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
|
18950741 |
2008 |
|
| Entrez Id: |
27019 |
| Gene Symbol: |
DNAI1 |
DNAI1
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
DNAI1 mutations explain only 2% of primary ciliary dykinesia.
|
18434704 |
2008 |
|
| Entrez Id: |
8701 |
| Gene Symbol: |
DNAH11 |
DNAH11
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
|
18022865 |
2008 |
|
| Entrez Id: |
8701 |
| Gene Symbol: |
DNAH11 |
DNAH11
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.
|
18022865 |
2008 |
|
| Entrez Id: |
1767 |
| Gene Symbol: |
DNAH5 |
DNAH5
|
Ciliary Motility Disorders
|
0.310 |
GeneticVariation |
CLINVAR |
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
|
19357118 |
2009 |
|
| Entrez Id: |
1767 |
| Gene Symbol: |
DNAH5 |
DNAH5
|
Ciliary Motility Disorders
|
0.310 |
CausalMutation |
CLINVAR |
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.
|
19357118 |
2009 |
|
| Entrez Id: |
221421 |
| Gene Symbol: |
RSPH9 |
RSPH9
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
|
19200523 |
2009 |
|
| Entrez Id: |
123872 |
| Gene Symbol: |
DNAAF1 |
DNAAF1
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
|
19944405 |
2009 |
|
| Entrez Id: |
123872 |
| Gene Symbol: |
DNAAF1 |
DNAAF1
|
Ciliary Motility Disorders
|
0.100 |
GeneticVariation |
CLINVAR |
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
|
19944400 |
2009 |
|
| Entrez Id: |
123872 |
| Gene Symbol: |
DNAAF1 |
DNAAF1
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.
|
19944400 |
2009 |
|
| Entrez Id: |
123872 |
| Gene Symbol: |
DNAAF1 |
DNAAF1
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
|
19944405 |
2009 |
|
| Entrez Id: |
345895 |
| Gene Symbol: |
RSPH4A |
RSPH4A
|
Ciliary Motility Disorders
|
0.100 |
CausalMutation |
CLINVAR |
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.
|
19200523 |
2009 |