|
| Entrez Id: |
51412 |
| Gene Symbol: |
ACTL6B |
ACTL6B
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
Pathogenic homozygous variations in ACTL6B cause DECAM syndrome: Developmental delay, Epileptic encephalopathy, Cerebral Atrophy, and abnormal Myelination.
|
31134736 |
2019 |
|
| Entrez Id: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
|
26350204 |
2015 |
|
| Entrez Id: |
57492 |
| Gene Symbol: |
ARID1B |
ARID1B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome.
|
22426309 |
2012 |
|
| Entrez Id: |
91147 |
| Gene Symbol: |
TMEM67 |
TMEM67
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
19508969 |
2009 |
|
KIAA0753
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
128637 |
| Gene Symbol: |
TBC1D20 |
TBC1D20
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79147 |
| Gene Symbol: |
FKRP |
FKRP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
219844 |
| Gene Symbol: |
HYLS1 |
HYLS1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
29954 |
| Gene Symbol: |
POMT2 |
POMT2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
95681 |
| Gene Symbol: |
CEP41 |
CEP41
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
FAM149B1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79600 |
| Gene Symbol: |
TCTN1 |
TCTN1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
22884 |
| Gene Symbol: |
WDR37 |
WDR37
|
0.100 |
GeneticVariation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
7703 |
| Gene Symbol: |
PCGF2 |
PCGF2
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
51524 |
| Gene Symbol: |
TMEM138 |
TMEM138
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
2719 |
| Gene Symbol: |
GPC3 |
GPC3
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
8295 |
| Gene Symbol: |
TRRAP |
TRRAP
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
153241 |
| Gene Symbol: |
CEP120 |
CEP120
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
65250 |
| Gene Symbol: |
CPLANE1 |
CPLANE1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
RPGRIP1L
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
54499 |
| Gene Symbol: |
TMCO1 |
TMCO1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
10585 |
| Gene Symbol: |
POMT1 |
POMT1
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
KIAA0586
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
80184 |
| Gene Symbol: |
CEP290 |
CEP290
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
| Entrez Id: |
79023 |
| Gene Symbol: |
NUP37 |
NUP37
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|