|
| Entrez Id: |
513 |
| Gene Symbol: |
ATP5F1D |
ATP5F1D
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
|
29478781 |
2018 |
|
| Entrez Id: |
1593 |
| Gene Symbol: |
CYP27A1 |
CYP27A1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
91949 |
| Gene Symbol: |
COG7 |
COG7
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2720 |
| Gene Symbol: |
GLB1 |
GLB1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2706 |
| Gene Symbol: |
GJB2 |
GJB2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23522 |
| Gene Symbol: |
KAT6B |
KAT6B
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
| Entrez Id: |
6326 |
| Gene Symbol: |
SCN2A |
SCN2A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5518 |
| Gene Symbol: |
PPP2R1A |
PPP2R1A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
55636 |
| Gene Symbol: |
CHD7 |
CHD7
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
57479 |
| Gene Symbol: |
PRR12 |
PRR12
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
5530 |
| Gene Symbol: |
PPP3CA |
PPP3CA
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4534 |
| Gene Symbol: |
MTM1 |
MTM1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
|
| Entrez Id: |
54870 |
| Gene Symbol: |
QRICH1 |
QRICH1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
6942 |
| Gene Symbol: |
TCF20 |
TCF20
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
58538 |
| Gene Symbol: |
MPP4 |
MPP4
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
4208 |
| Gene Symbol: |
MEF2C |
MEF2C
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
547 |
| Gene Symbol: |
KIF1A |
KIF1A
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
|
26486474 |
2016 |
|
| Entrez Id: |
3708 |
| Gene Symbol: |
ITPR1 |
ITPR1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
|
29663667 |
2018 |
|
| Entrez Id: |
23314 |
| Gene Symbol: |
SATB2 |
SATB2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3784 |
| Gene Symbol: |
KCNQ1 |
KCNQ1
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23394 |
| Gene Symbol: |
ADNP |
ADNP
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
23126 |
| Gene Symbol: |
POGZ |
POGZ
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
3785 |
| Gene Symbol: |
KCNQ2 |
KCNQ2
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
91147 |
| Gene Symbol: |
TMEM67 |
TMEM67
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
|
|
|
|
| Entrez Id: |
2186 |
| Gene Symbol: |
BPTF |
BPTF
|
0.100 |
CausalMutation
|
phenotype |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |