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Imported: 2020-01-15 00:00:01.298
NCBI transfered: 2019-03-15 00:03:22.0
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No. |
Resource ID |
Entrez DB |
Entrez OID |
Link Name |
Link Category |
Link Url |
Link Query |
1
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nif-0000-03216
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PubMed
|
8651512
|
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 is related to genes POMT1, MDDGA1, MDDGB1, MDDGC1 which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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2
|
nif-0000-03216
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PubMed
|
9705283
|
Optic nerve hypoplasia is related to genes PAX6, AN2, MGDA, FVH1, ASGD5 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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3
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nif-0000-03216
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PubMed
|
1889089
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Otofaciocervical syndrome 2 is related to genes PAX1, OFC2 which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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4
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nif-0000-03216
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PubMed
|
5009595
|
HPRT-related gout is related to genes HPRT1, HPRT which are x-linked recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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5
|
nif-0000-03216
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PubMed
|
8571935
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Sickle cell anemia is related to genes HBB, ECYT6 which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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6
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nif-0000-03216
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PubMed
|
14607846
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Tooth agenesis, selective, 3 is related to genes PAX9, STHAG3 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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7
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nif-0000-03216
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PubMed
|
17631494
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AIDS, resistance to is related to genes CXCL12, SDF1.
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Data: Gene Annotation
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Link
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8
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nif-0000-03216
|
PubMed
|
9479495
|
Immunoskeletal dysplasia with neurodevelopmental abnormalities is related to genes EXTL3, EXTR1, ISDNA which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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9
|
nif-0000-03216
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PubMed
|
15094734
|
Colorblindness, protan is related to genes OPN1LW, RCP, CBP, CBBM which are x-linked according to the OMIM database.
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Data: Gene Annotation
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Link
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10
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nif-0000-03216
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PubMed
|
17264970
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Intestinal pseudoobstruction, neuronal is related to genes FLNA, FLN1, NHBP, OPD1, OPD2, FMD, MNS, CVD1, CSBS, FGS2 which are x-linked recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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11
|
nif-0000-03216
|
PubMed
|
3014537
|
Rheumatoid arthritis, systemic juvenile is related to genes IL6, IFNB2, BSF2, HSF, HGF.
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Data: Gene Annotation
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Link
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12
|
nif-0000-03216
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PubMed
|
14757859
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Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 is related to genes ATPAF2, ATP12, MC5DN1 which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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13
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nif-0000-03216
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PubMed
|
16683255
|
Corneal dystrophy, Avellino type is related to genes TGFBI, CSD2, CDGG1, CSD, BIGH3, CDG2, EBMD which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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14
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nif-0000-03216
|
PubMed
|
23246289
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Combined hyperlipidemia, familial is related to genes LPL, LIPD, HDLCQ11 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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15
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nif-0000-03216
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PubMed
|
15638828
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Thalassemia-beta, dominant inclusion-body is related to genes HBB, ECYT6.
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Data: Gene Annotation
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Link
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16
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nif-0000-03216
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PubMed
|
6032878
|
Erythrocytosis, 7 is related to genes HBA1, HBH, METHBA, ECYT7.
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Data: Gene Annotation
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Link
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17
|
nif-0000-03216
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PubMed
|
19808781
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Epiphyseal dysplasia, multiple, 1 is related to genes COMP, EDM1, MED, PSACH which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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18
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nif-0000-03216
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PubMed
|
17492760
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Pancreatic cancer/melanoma syndrome is related to genes CDKN2A, MTS1, P16, MLM, CMM2 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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19
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nif-0000-03216
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PubMed
|
10506710
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Renal cell carcinoma, papillary, 1 is related to genes TFE3, RCCX1.
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Data: Gene Annotation
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Link
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20
|
nif-0000-03216
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PubMed
|
12881038
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Syndactyly, type III is related to genes GJA1, CX43, ODDD, SDTY3, ODOD, HSS, AVSD3, HLHS1, CMDR, EKVP3 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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21
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nif-0000-03216
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PubMed
|
12888565
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NOR polyagglutination syndrome is related to genes A4GALT, P1PK.
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Data: Gene Annotation
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Link
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22
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nif-0000-03216
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PubMed
|
4942314
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Heinz body anemia is related to genes HBB, ECYT6 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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23
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nif-0000-03216
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PubMed
|
23892605
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Autism susceptibility, X-linked 3 is related to genes MECP2, RTT, PPMX, MRX16, MRX79, AUTSX3, MRXSL, MRXS13 which are x-linked; multifactorial; isolated cases according to the OMIM database.
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Data: Gene Annotation
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Link
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24
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nif-0000-03216
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PubMed
|
11069186
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LADD syndrome is related to genes FGFR2, BEK, CFD1, JWS, TK14, BBDS which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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25
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nif-0000-03216
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PubMed
|
15661757
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Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 is related to genes LARGE, KIAA0609, MDC1D, MDDGA6, MDDGB6 which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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26
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nif-0000-03216
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PubMed
|
12034774
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Seizures, cortical blindness, microcephaly syndrome is related to genes DIAPH1, DFNA1, LFHL1, SCBMS which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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27
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nif-0000-03216
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PubMed
|
24290378
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Pfeiffer syndrome is related to genes FGFR2, BEK, CFD1, JWS, TK14, BBDS which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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28
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nif-0000-03216
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PubMed
|
1361196
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Alzheimer disease-2 is related to genes APOE, AD2, LPG, LDLCQ5 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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29
|
nif-0000-03216
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PubMed
|
1319838
|
Hepatoblastoma, somatic is related to genes APC, GS, FPC, BTPS2.
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Data: Gene Annotation
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Link
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30
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nif-0000-03216
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PubMed
|
3359047
|
Elliptocytosis-2 is related to genes SPTA1, EL2, SPH3, HS3, HPP which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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31
|
nif-0000-03216
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PubMed
|
3702936
|
Leukoencephalopathy, diffuse hereditary, with spheroids is related to genes CSF1R, FMS, HDLS which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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32
|
nif-0000-03216
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PubMed
|
7951246
|
Xeroderma pigmentosum, group G/Cockayne syndrome is related to genes ERCC5, XPG, COFS3 which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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33
|
nif-0000-03216
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PubMed
|
11978985
|
Parkinson disease, juvenile, type 2 is related to genes PRKN, PARK2, PDJ, LPRS2 which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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34
|
nif-0000-03216
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PubMed
|
16528451
|
Resistance to malaria due to G6PD deficiency is related to genes G6PD, G6PD1.
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Data: Gene Annotation
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Link
|
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35
|
nif-0000-03216
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PubMed
|
9439666
|
Diabetes mellitus, insulin-dependent, 20 is related to genes HNF1A, TCF1, MODY3, IDDM20.
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Data: Gene Annotation
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Link
|
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36
|
nif-0000-03216
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PubMed
|
15922306
|
Andersen syndrome is related to genes KCNJ2, HHIRK1, KIR2.1, IRK1, LQT7, SQT3, ATFB9 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
|
|
37
|
nif-0000-03216
|
PubMed
|
14727154
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Osteosclerosis is related to genes LRP5, BMND1, LRP7, LR3, OPPG, VBCH2, OPTA1, EVR4, PCLD4 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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38
|
nif-0000-03216
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PubMed
|
23903654
|
Cerebral amyloid angiopathy, PRNP-related is related to genes PRNP, PRIP, KURU, CJD which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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|
39
|
nif-0000-03216
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PubMed
|
11754069
|
Sweeney-Cox syndrome is related to genes TWIST1, ACS3, SCS, CRS1, SWCOS which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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40
|
nif-0000-03216
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PubMed
|
1887852
|
Waardenburg syndrome, type 1 is related to genes PAX3, WS1, HUP2, CDHS, WS3 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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41
|
nif-0000-03216
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PubMed
|
10915612
|
Subcortical laminal heterotopia, X-linked is related to genes DCX, DBCN, LISX which are x-linked according to the OMIM database.
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Data: Gene Annotation
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Link
|
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42
|
nif-0000-03216
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PubMed
|
19656776
|
Pseudohypoparathyroidism, type IB is related to genes GNASAS1, GNASAS, SANG, NESPAS which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
|
Link
|
|
43
|
nif-0000-03216
|
PubMed
|
15077204
|
Hypertension, essential, susceptibility to is related to genes AGT, SERPINA8 which are multifactorial according to the OMIM database.
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Data: Gene Annotation
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Link
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44
|
nif-0000-03216
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PubMed
|
26427606
|
Paramyotonia congenita is related to genes SCN4A, HYPP, NAC1A, HOKPP2, CMS16 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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|
45
|
nif-0000-03216
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PubMed
|
6430782
|
Venous thrombosis, protection against is related to genes F13A1, F13A which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
|
|
46
|
nif-0000-03216
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PubMed
|
25601850
|
Sclerosing cholangitis, neonatal is related to genes DCDC2, RU2, KIAA1154, NPHP19, DFNB66, NSC which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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47
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nif-0000-03216
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PubMed
|
11980916
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Congenital disorder of glycosylation, type IIl is related to genes COG6, COD2, KIAA1134, CDG2L, SHNS which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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48
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nif-0000-03216
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PubMed
|
12221071
|
Long QT syndrome 12 is related to genes SNTA1, SNT1, TACIP1, LQT12 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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49
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nif-0000-03216
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PubMed
|
19541653
|
Dystonia 16 is related to genes PRKRA, PACT, RAX, DYT16 which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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50
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nif-0000-03216
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PubMed
|
10369308
|
Hypokalemic periodic paralysis, type 2 is related to genes SCN4A, HYPP, NAC1A, HOKPP2, CMS16 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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51
|
nif-0000-03216
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PubMed
|
6548480
|
Thalassemia, beta is related to genes HBB, ECYT6.
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Data: Gene Annotation
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Link
|
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52
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nif-0000-03216
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PubMed
|
10468611
|
Crigler-Najjar syndrome, type II is related to genes UGT1A1, UGT1, GNT1, BILIQTL1 which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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53
|
nif-0000-03216
|
PubMed
|
21791690
|
Barrett esophagus/esophageal adenocarcinoma is related to genes ASCC1, p50, SMABF2.
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Data: Gene Annotation
|
Link
|
|
54
|
nif-0000-03216
|
PubMed
|
2370055
|
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related is related to genes CRYAB, CRYA2, CTPP2, CMD1II, CTRCT16, MFM2 which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
|
Link
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55
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nif-0000-03216
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PubMed
|
11157804
|
Charcot-Marie-Tooth disease, type 4F is related to genes PRX, CMT4F which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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56
|
nif-0000-03216
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PubMed
|
18039847
|
Pilomatricoma, somatic is related to genes CTNNB1, MRD19, EVR7.
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Data: Gene Annotation
|
Link
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57
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nif-0000-03216
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PubMed
|
11756666
|
Attention deficit-hyperactivity disorder is related to gene DRD4 which is autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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58
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nif-0000-03216
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PubMed
|
9049632
|
Cleft palate, cardiac defects, and mental retardation is related to genes MEIS2, MRG1, CPCMR which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
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59
|
nif-0000-03216
|
PubMed
|
8723106
|
Colorectal cancer, somatic is related to genes FGFR3, ACH.
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Data: Gene Annotation
|
Link
|
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60
|
nif-0000-03216
|
PubMed
|
3838727
|
Heinz body anemia is related to genes HBB, ECYT6 which are autosomal dominant according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
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61
|
nif-0000-03216
|
PubMed
|
10231032
|
Interstitial nephritis, karyomegalic is related to genes FAN1, MTMR15, KIAA1018, KMIN which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
|
Link
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62
|
nif-0000-03216
|
PubMed
|
9079687
|
Neurodegeneration with brain iron accumulation 2B is related to genes PLA2G6, IPLA2, INAD1, NBIA2B, NBIA2A, PARK14 which are autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
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63
|
nif-0000-03216
|
PubMed
|
14656915
|
Leprosy, susceptibility to is related to genes TLR2, TIL4 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
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Link
|
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64
|
nif-0000-03216
|
PubMed
|
9639526
|
Neurofibromatosis-Noonan syndrome is related to genes NF1, VRNF, WSS, NFNS which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
|
Link
|
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65
|
nif-0000-03216
|
PubMed
|
25575550
|
Alport syndrome, autosomal recessive is related to gene COL4A4 which is autosomal recessive according to the OMIM database.
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Data: Gene Annotation
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Link
|
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66
|
nif-0000-03216
|
PubMed
|
8306871
|
Central hypoventilation syndrome, congenital is related to genes RET, MEN2A, HSCR1 which are autosomal dominant according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
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67
|
nif-0000-03216
|
PubMed
|
11175290
|
Myokymia is related to genes KCNQ2, EBN1, EIEE7, BFNS1 which are autosomal dominant according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
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68
|
nif-0000-03216
|
PubMed
|
7566171
|
Immunodeficiency 31A, mycobacteriosis, autosomal dominant is related to genes STAT1, CANDF7, IMD31A, IMD31B, IMD31C which are autosomal dominant according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
69
|
nif-0000-03216
|
PubMed
|
9628581
|
Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) is related to genes OPA1, NTG, NPG, BERHS, MTDPS14.
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Data: Gene Annotation
|
Link
|
|
70
|
nif-0000-03216
|
PubMed
|
7749328
|
Colorectal cancer, somatic is related to genes APC, GS, FPC, BTPS2.
|
Data: Gene Annotation
|
Link
|
|
71
|
nif-0000-03216
|
PubMed
|
10606622
|
Myopathy, myosin storage, autosomal dominant is related to genes MYH7, CMH1, MPD1, CMD1S, SPMM, SPMD which are autosomal dominant according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
72
|
nif-0000-03216
|
PubMed
|
12619104
|
Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 is related to genes TP63, TP73L, KET, EEC3, SHFM4, LMS, RHS, OFC8 which are autosomal dominant according to the OMIM database.
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Data: Gene Annotation
|
Link
|
|
73
|
nif-0000-03216
|
PubMed
|
14741101
|
Hyperlipoproteinemia, type III is related to genes APOE, AD2, LPG, LDLCQ5.
|
Data: Gene Annotation
|
Link
|
|
74
|
nif-0000-03216
|
PubMed
|
20133699
|
Burkitt lymphoma is related to gene MYC which is isolated cases according to the OMIM database.
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Data: Gene Annotation
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Link
|
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75
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nif-0000-03216
|
PubMed
|
10648622
|
Mental retardation, X-linked 9/44 is related to genes FTSJ1, JM23, SPB1, MRX44, MRX9 which are x-linked recessive according to the OMIM database.
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Data: Gene Annotation
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Link
|
|
76
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nif-0000-03216
|
PubMed
|
25957469
|
Arthrogryposis, distal, type 2B is related to genes MYH3, DA2A, DA2B, DA8 which are autosomal dominant according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
77
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nif-0000-03216
|
PubMed
|
1271425
|
Apnea, postanesthetic, susceptibility to, due to BCHE deficiency is related to genes BCHE, CHE1, BCHED.
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Data: Gene Annotation
|
Link
|
|
78
|
nif-0000-03216
|
PubMed
|
10991693
|
Branchiootic syndrome 1 is related to genes EYA1, BOR, BOS1, OFC1 which are autosomal dominant according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
79
|
nif-0000-03216
|
PubMed
|
1303246
|
Lymphangioleiomyomatosis, somatic is related to genes TSC2, LAM.
|
Data: Gene Annotation
|
Link
|
|
80
|
nif-0000-03216
|
PubMed
|
11786642
|
Cataract 14, multiple types is related to genes GJA3, CX46, CZP3, CAE3, CTRCT14 which are autosomal dominant according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
81
|
nif-0000-03216
|
PubMed
|
24067355
|
Microtia with or without hearing impairment (AD) is related to genes HOXA2, MCOHI which are autosomal recessive; autosomal dominant according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
82
|
nif-0000-03216
|
PubMed
|
15151504
|
Wolfram syndrome 1 is related to genes WFS1, WFRS, WFS, DFNA6, DFNA14, DFNA38, WFSL, CTRCT41 which are autosomal recessive according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
83
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nif-0000-03216
|
PubMed
|
7786104
|
Cardiomyopathy, dilated, 1MM is related to genes MYBPC3, CMH4, CMD1MM, LVNC10 which are autosomal dominant according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
84
|
nif-0000-03216
|
PubMed
|
11450852
|
ACTH-independent macronodular adrenal hyperplasia is related to genes GNAS, GNAS1, GPSA, POH, PHP1B, PHP1A, AHO, PHP1C, PITA3 which are isolated cases according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
85
|
nif-0000-03216
|
PubMed
|
15895257
|
Nephrolithiasis, type I is related to genes CLCN5, CLCK2, NPHL2, DENTS, NPHL1 which are x-linked recessive according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
86
|
nif-0000-03216
|
PubMed
|
17881656
|
Mandibuloacral dysplasia is related to genes LMNA, LMN1, EMD2, FPLD2, CMD1A, HGPS, LGMD1B which are autosomal recessive according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
87
|
nif-0000-03216
|
PubMed
|
19734909
|
Subcortical laminar heterotopia is related to genes PAFAH1B1, LIS1 which are isolated cases according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
88
|
nif-0000-03216
|
PubMed
|
20400119
|
Cold-induced sweating syndrome 2 is related to genes CLCF1, BSF3, CLC, CISS2 which are autosomal recessive according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
89
|
nif-0000-03216
|
PubMed
|
11390973
|
Apert syndrome is related to genes FGFR2, BEK, CFD1, JWS, TK14, BBDS which are autosomal dominant according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
90
|
nif-0000-03216
|
PubMed
|
7530216
|
Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5 is related to genes TRAF3, CD40BP, LAP1, CAP1, CRAF1, IIAE5.
|
Data: Gene Annotation
|
Link
|
|
91
|
nif-0000-03216
|
PubMed
|
6248796
|
Maturity-onset diabetes of the young, type 10 is related to genes INS, MODY10, IDDM2 which are autosomal dominant according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
92
|
nif-0000-03216
|
PubMed
|
18241067
|
Acyl-CoA dehydrogenase, medium chain, deficiency of is related to genes ACADM, MCAD which are autosomal recessive according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
93
|
nif-0000-03216
|
PubMed
|
7177196
|
Malaria, resistance to is related to genes HBB, ECYT6.
|
Data: Gene Annotation
|
Link
|
|
94
|
nif-0000-03216
|
PubMed
|
2845420
|
Dermatofibrosarcoma protuberans is related to genes PDGFB, SIS, IBGC5.
|
Data: Gene Annotation
|
Link
|
|
95
|
nif-0000-03216
|
PubMed
|
2001396
|
Ciliary dyskinesia, primary, 29 is related to genes CCNO, UNG2, CILD29 which are autosomal recessive according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
96
|
nif-0000-03216
|
PubMed
|
11075813
|
Luteinizing hormone resistance, female is related to genes LHCGR, LHR, LCGR which are autosomal recessive according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
97
|
nif-0000-03216
|
PubMed
|
19243017
|
Microphthalmia, isolated 6 is related to genes PRSS56, MCOP6 which are autosomal recessive according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
98
|
nif-0000-03216
|
PubMed
|
9892956
|
Epidermolysis bullosa, junctional, non-Herlitz type is related to gene ITGB4 which is autosomal recessive according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
99
|
nif-0000-03216
|
PubMed
|
17924331
|
Prostate cancer is related to genes BRCA2, FANCD1, BROVCA2, GLM3, PNCA2 which are autosomal dominant according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
100
|
nif-0000-03216
|
PubMed
|
3488775
|
von Willebrand disease, types 2A, 2B, 2M, and 2N is related to genes VWF, F8VWF which are autosomal recessive; autosomal dominant according to the OMIM database.
|
Data: Gene Annotation
|
Link
|
|
|
|