#59
Unknown sequences:
1. cgcctgcttt tgcccgggtc ctgagaacag gggctcccca cactttgttt tttttttttg
2. gacatggcgg tgcagccgaa ggagacgctg cagttggaga gcgcggccga ggtcggcttc
3. gctgccggga cgggtccaag atggacggcc gctcaggttc tgcttttacc tgcggcccag
4. gctcactgga accggccggt gctagtgtggct tgggccttctc gctccttctc agcctgcccc
5. atataccaaa tcccttctgt tgattctgct gacaatctat ctgaaaaatt ggaaagagaa
6. cacagtcgcg ccgcgctcga ccgcctggag aagctgctgc gctgctcgcg ttgtactaac
7. tggacctgat cttgaagacc taaaacgcca agtacaacaa cataaggtgc ttcaagaaga
8. cgggagctgc tgcggcagca ggtcaggggag atcacgttcc tgaaaaacac ggtgatggag
9. acagctcacc tagctgcaat ggctacggt aagcgcccct aaaatccctt tggcacaatg
10. cttctctggt gaagtgtgtt tcctgcaacg atcacgaaca tgaacatcaa aggatcgatcgcca
# name of the gene or protein
Name of disease
(if available)
1
SHOXa gene idiopathic short stature
2 mutS homolog 2 (MSH2), on chromosome 2
Mutated in nonpolyposis colon cancer (HNPCC)
3
huntingtin (HTT), mRNA
huntingtin
4
AVPR2 gene for arginine vasopressin receptor 2, without stop codon high-throughput preparation of ORF clones and efficient characterization of their protein products. diabetes insipidus, and nephrogenic diabetes insipidus,
5
CFTR
cDNA clone IMAGE:9052227, containing frame-shift errors
Mutations in this gene are associated with the autosomal recessive disorders cystic fibrosis and congenital bilateral aplasia of the vas deferens.
6 BRCA1 associated RING domain 1 (BARD1), transcript variant 8, long non-coding RNA
target of oncogenic mutations in breast or ovarian cancer
7
dystrophin (DMD), transcript variant Dp427p2, mRNA
intellectual disability without muscular dystrophy (DMD)
8
ECM protein, cDNA FLJ53494 complete cds
Mutations can cause the steochondrodysplasias pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED).
9
Human growth hormone gene (HGH-N)
Mutations in this gene lead to placental