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| OMIM | Protein | Gene | Disorder | Molecular genetics |
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| 600577 | LIM/homeodomain protein LHX3 | LHX3 | Combined pituitary hormone deficiency-3 | Homozygosity for intragenic deletion/nonsense mutation |
| 613037 | Inositol polyphosphate-5-phosphatase | INPP5E | Joubert syndrome 1 | Homozygosity for mutations in the INPP5E gene that lead to decreased phosphatase activity |
| | | | Mental retardation, truncal obesity, retinal dystrophy, and micropenis | Homozygous nonsense mutation detected in the INPP5E gene |
| 607212 | Caspase recruitment domain-containing protein 9 | CARD9 | Autosomal recessive form of familial chronic mucocutaneous candidiasis | Homozygous nonsense mutation in the CARD9 gene |
| 190198 |
Notch, Drosophila, homolog of, 1, translocation associated Notch homolog; NOTCH1 | NOTCH1 | Aortic valve disease | Heterozygosity for nonsense/frameshift mutations |
| | | | Leukemia, T-cell acute lymphoblastic | |
| 603100 | 1-Acylglycerol-3-phosphate O-acyltransferase 2 | AGPAT2 | Lipodystrophy, congenital generalised, type 1; CGL1 | Homozygous or compound heterozygous mutations |
| 613354 | Taperin | TPRN | Autosomal recessive nonsyndromic deafness-79 | Homozygous truncating mutations |
| 604346 | Mannosidase, alpha, class 1B member 1 | MAN1B1 | Mental retardation, autosomal recessive 15 | Homozygous mutations |
| 138249 | Glutamate receptor, ionotropic, N-methyl D-aspartate 1 | GRIN1 | Mental retardation, autosomal dominant 8 | Missense mutation; in-frame duplication of codon 560 |
| 609826 | Solute carrier family 34 (sodium/phosphate cotransporter), member 3 | SLC34A3 | Hypophosphatemic rickets with hypercalciuria | Homozygous single-nucleotide deletion |
| 608137 | Nasal embryonic luteinizing hormone-releasing hormone factor | NELF | Hypogonadotropic hypogonadism | A thr480-to-ala mutation in the NELF gene |
| 607001 | Euchromatic histone methyltransferase 1 | EHMT1 | Kleefstra syndrome | Heterozygous nonsense/frameshift mutation, in the EHMT1 gene; terminal deletions, interstitial deletions, derivative chromosomes, and complex rearrangements |
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