All conditions under I
All 200+ conditions are caused by changes to specific genes. These genes are shown underneath each condition.
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- IMAGE-I syndrome
Associated gene: POLE
- IMAGE syndrome
Associated gene: CDKN1C
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Imerslund-Grasbeck syndrome
2 associated genes- CUBN
- AMN
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Immunodeficiency
22 associated genes- STAT1
- LCK
- FOXN1
- PNP
- PRKDC
- LAT
- DOCK2
- RAC2
- IFNGR1
- IFNGR2
- FCHO1
- IKBKB
- CTPS1
- IRAK4
- MYD88
- LIG1
- MAGT1
- RASGRP1
- IRF8
- MCM4
- STK4
- ARPC1B
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Immunodeficiency-centromeric instability-facial anomalies syndrome
4 associated genes- DNMT3B
- ZBTB24
- CDCA7
- HELLS
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Immunodeficiency with hyper-IgM
2 associated genes- CD40
- CD40LG
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Immunodeficiency with lymphoproliferation and autoimmunity
2 associated genes- IL2RA
- IL2RB
- Insulin-like growth factor I deficiency
Associated gene: IGF1
- Intestinal hypomagnesaemia
Associated gene: TRPM6
- Intrinsic factor deficiency
Associated gene: CBLIF
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Isolated growth hormone deficiency
3 associated genes- GH1
- GHRHR
- RNPC3
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Isolated methylmalonic acidaemia
5 associated genes- MMUT
- MCEE
- MMAA
- MMAB
- MMADHC
- Isovaleric acidaemia
Associated gene: IVD