Annotation Detail
Information
- Associated Genes
- TRIM23 BTF3 CCNB1 CDK7 ERCC8 FOXD1 GTF2H2 HTR1A KIF2A TNPO1 CD180 MAP1B NAIP PDE4D PIK3R1 RAD17 SMN1 SMN2 TAF9 SERF1A CARTPT CWC27 ADAMTS6 MRPS27 PPWD1 PART1 DIMT1 IPO11 SGTB DEPDC1B BDP1 ERBIN NLN ZSWIM6 MCCC2 CENPK SLC30A5 CENPH PTCD2 ELOVL7 TRAPPC13 NDUFAF2 KGD4 FCHO2 RAB3C TMEM171 TMEM174 SREK1 MARVELD2 ZNF366 CCDC125 LINC03122 RNF180 SREK1IP1 LOC340090 MAST4 RGS7BP SMIM15 MIR582 GTF2H2C SERF1B LRRC70 SHISAL2B LINC03123 OCLN MIR4804 MIR4803 IPO11-LRRC70 SMIM15-AS1 LOC101928651 LINC02065 LINC02229 MAST4-AS1 LINC02997 LINC02198 LOC101928924 AK6 LINC02219 LOC102503427 LINC02197 LINC01386 ERCC8-AS1 LINC02057 LOC105378997 LINC02242 LOC105379030 LINC02230 SNORA50D SNORD13B-1 SNORD13B-2 LOC111089946 LOC111556106 SHLD3 LOC113002588 LOC113002589 LOC113002590 LOC113002591 LOC114004394 LOC116158518 BTF3-DT FCHO2-DT LOC121079939 LOC121079940 LOC121079941 LOC121079942 LOC121079943 LOC121079944 LOC121079945 TNPO1-DT LOC121725205 LOC121725206 LOC121725207 LOC123493319 LOC123493320 LOC123493321 LOC123493322 LOC123493323 LOC123493324 LOC123493325 LOC123493326 LOC123493327 LOC123493329 LOC123493330 LOC123493331 LOC123493332 LOC123493333 LOC123493334 LOC123493335 LOC123497905 LOC123497906 TILRLS LOC126807403 LOC126807404 LOC126807405 LOC126807406 LOC126807407 LOC126807408 LOC126807409 LOC126807410 LOC126807411 LOC126807412 LOC126807413 LOC126807414 LOC126807415 LOC126807416 LOC126807417 LOC126807418 LOC126807419 LOC129389287 LOC129389288 LOC129389289 LOC129389290 LOC129389291 LOC129389292 LOC129389293 LOC129389294 LOC129389296 LOC129993938 LOC129993939 LOC129993940 LOC129993941 LOC129993942 LOC129993943 LOC129993944 LOC129993945 LOC129993946 LOC129993947 LOC129993948 LOC129993949 LOC129993950 LOC129993951 LOC129993952 LOC129993953 LOC129993954 LOC129993955 LOC129993956 LOC129993957 LOC129993958 LOC129993959 LOC129993960 LOC129993961 LOC129993962 LOC129993963 LOC129993964 LOC129993965 LOC129993966 LOC129993967 LOC129993968 LOC129993969 LOC129993970 LOC129993971 LOC129993972 LOC129993973 LOC129993974 LOC129993975 LOC129993976 LOC129993977 LOC129993978 LOC129993979 LOC129993980 LOC129993981 LOC129993982 LOC129993983 LOC129993984 LOC129993985 LOC129993986 LOC129993987 LOC129993988 LOC129993989 LOC129993990 LOC129993991 LOC129993992 LOC129993993 LOC129993994 LOC129993995 LOC129993996 LOC129993997 LOC129993998 LOC129993999 LOC129994000 LOC129994001 LOC129994002 LOC129994003 LOC129994004 LOC129994005 LOC129994006 LOC129994007 LOC129994008 LOC129994009 LOC129994010 LOC129994011 LOC129994012 LOC129994013 LOC129994014 LOC129994015 LOC129994016 LOC129994017 LOC129994018 LOC129994019 LOC129994020 LOC129994021 LOC129994022 LOC129994023 LOC129994024 LOC129994025 LOC129994026 LOC129994027 LOC129994028 LOC129994029 LOC129994030 LOC129994031 LOC129994032 LOC129994033 LOC129994034 LOC129994035 LOC129994036 LOC129994037 LOC129994038 LOC129994039 LOC129994040 LOC129994041 LOC129994042 LOC129994043 LOC129994044 LOC129994045 SMN-AS1 LOC132089288
- Associated Variants
- GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1
- Associated Disease
- intellectual disability
- Source Database
- ClinVar
- Description
- GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1 AND Intellectual disability
- ClinVar Allele ID
- 789344
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000984869
- ClinVar Disease
- Intellectual disability
- Observed Origin Sample
- de novo
Drugs