Entrez Id: |
23389 |
Gene Symbol: |
MED13L |
MED13L
|
0.120 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6942 |
Gene Symbol: |
TCF20 |
TCF20
|
0.110 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
9024 |
Gene Symbol: |
BRSK2 |
BRSK2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder.
|
30879638 |
2019 |
Entrez Id: |
26960 |
Gene Symbol: |
NBEA |
NBEA
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
NBEA: Developmental disease gene with early generalized epilepsy phenotypes.
|
30269351 |
2018 |
Entrez Id: |
3708 |
Gene Symbol: |
ITPR1 |
ITPR1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.
|
29663667 |
2018 |
Entrez Id: |
5898 |
Gene Symbol: |
RALA |
RALA
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
|
30500825 |
2018 |
Entrez Id: |
49855 |
Gene Symbol: |
SCAPER |
SCAPER
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutations in SCAPER cause autosomal recessive retinitis pigmentosa with intellectual disability.
|
28794130 |
2017 |
Entrez Id: |
2186 |
Gene Symbol: |
BPTF |
BPTF
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
Entrez Id: |
7552 |
Gene Symbol: |
ZNF711 |
ZNF711
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability.
|
27993705 |
2017 |
Entrez Id: |
4286 |
Gene Symbol: |
MITF |
MITF
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
|
26650189 |
2016 |
Entrez Id: |
2290 |
Gene Symbol: |
FOXG1 |
FOXG1
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
2016 |
Entrez Id: |
23096 |
Gene Symbol: |
IQSEC2 |
IQSEC2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A novel splicing mutation in the IQSEC2 gene that modulates the phenotype severity in a family with intellectual disability.
|
26733290 |
2016 |
Entrez Id: |
4286 |
Gene Symbol: |
MITF |
MITF
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Molecular characterization of melanoma cases in Denmark suspected of genetic predisposition.
|
25803691 |
2015 |
Entrez Id: |
4286 |
Gene Symbol: |
MITF |
MITF
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Prevalence of the E318K MITF germline mutation in Italian melanoma patients: associations with histological subtypes and family cancer history.
|
23167872 |
2013 |
Entrez Id: |
4286 |
Gene Symbol: |
MITF |
MITF
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma.
|
22012259 |
2011 |
Entrez Id: |
7552 |
Gene Symbol: |
ZNF711 |
ZNF711
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
|
19377476 |
2009 |
Entrez Id: |
773 |
Gene Symbol: |
CACNA1A |
CACNA1A
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
203068 |
Gene Symbol: |
TUBB |
TUBB
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
4208 |
Gene Symbol: |
MEF2C |
MEF2C
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
8831 |
Gene Symbol: |
SYNGAP1 |
SYNGAP1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
10585 |
Gene Symbol: |
POMT1 |
POMT1
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
23299 |
Gene Symbol: |
BICD2 |
BICD2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
867 |
Gene Symbol: |
CBL |
CBL
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
1644 |
Gene Symbol: |
DDC |
DDC
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
Entrez Id: |
6595 |
Gene Symbol: |
SMARCA2 |
SMARCA2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|