Human | NCF1 | 653361 | neutrophil cytosolic factor 1 | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | SLC25A5P8 | 392301 | solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 8 | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | MMAB | 326625 | methylmalonic aciduria (cobalamin deficiency) cblB type | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | H19 | 283120 | H19, imprinted maternally expressed transcript (non-protein coding) | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | MMAA | 166785 | methylmalonic aciduria (cobalamin deficiency) cblA type | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | SLC34A3 | 142680 | solute carrier family 34 (type II sodium/phosphate contransporter), member 3 | Enlargement of the wrists Enlargement of the ankles Enlargement of the costochondral junction |
Human | DNAJC19 | 131118 | DnaJ (Hsp40) homolog, subfamily C, member 19 | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | CYP2R1 | 120227 | cytochrome P450, family 2, subfamily R, polypeptide 1 | Enlargement of the ankles Enlargement and bulging of the costochondral junction Enlargement of the wrists |
Human | PDB4 | 94003 | Paget disease of bone 4 | Deformity or enlargement of bones |
Human | MYPN | 84665 | myopalladin | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | HSD3B7 | 80270 | hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7 | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | FKRP | 79147 | fukutin related protein | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | GINGF2 | 64644 | gingival fibromatosis, hereditary, 2 | Gingival fibromatosis (slowly progressive enlargement of gingiva) |
Human | DCLRE1C | 64421 | DNA cross-link repair 1C | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | NSD1 | 64324 | nuclear receptor binding SET domain protein 1 | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | ABCG8 | 64241 | ATP-binding cassette, sub-family G (WHITE), member 8 | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | ABCG5 | 64240 | ATP-binding cassette, sub-family G (WHITE), member 5 | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | NOD2 | 64127 | nucleotide-binding oligomerization domain containing 2 | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | PRX | 57716 | periaxin | Hypertrophic nerve changes |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | BTNL2 | 56244 | butyrophilin-like 2 (MHC class II associated) | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | ALG1 | 56052 | ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | INFERRED, Score=800, UMLKSK CUI: C0020564 |
Human | SLC39A4 | 55630 | solute carrier family 39 (zinc transporter), member 4 | INFERRED, Score=800, UMLKSK CUI: C0020564 |