Debug Stats | ### Total Build Time: 17 ms 30.023 KB CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 373 bytesCONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytesCONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 317 bytes- Skipping details on:
CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes - Skipping details on:
CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 188 bytes- Skipping details on:
CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytesCONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytesCONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytesCONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytesCONCEPT_GENES gt=11 ms Completed: 11 ms rowSize= 27.858 KBCONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.147 KBCONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes- Reload Stats
|
Genes (43)
Species: human : 43 | |
Human | SLC34A3 | 142680 | solute carrier family 34 (type II sodium/phosphate contransporter), member 3 | Caused by mutation in the solute carrier family 34, member 3 gene ({609826.0001}) | Human | BRIP1 | 83990 | BRCA1 interacting protein C-terminal helicase 1 | Caused by mutations in the solute carrier family 22, member 1-like gene (SLC22A1L, {602631.0001}) | Human | SLC25A22 | 79751 | solute carrier family 25 (mitochondrial carrier: glutamate), member 22 | Caused by mutation in the solute carrier family 25 (mitochondrial carrier, glutamate), member 22 gene (SLC25A22, {609302.0001}) | Human | PALB2 | 79728 | partner and localizer of BRCA2 | Caused by mutations in the solute carrier family 22, member 1-like gene (SLC22A1L, {602631.0001}) | Human | SLC17A5 | 26503 | solute carrier family 17 (acidic sugar transporter), member 5 | Caused by mutations in the solute carrier family 17 (sodium phosphate), member 5 gene (SLC17A5, {604322.0001}) Caused by mutations in the solute carrier family 17 (sodium phosphate), member 5 gene (SLC17A5, {604322.0002}) | Human | CHEK2 | 11200 | checkpoint kinase 2 | Caused by mutations in the solute carrier family 22, member 1-like gene (SLC22A1L, {602631.0001}) | Human | IL1RAPL1 | 11141 | interleukin 1 receptor accessory protein-like 1 | Learning disabilities in some carrier females | Human | SLC34A2 | 10568 | solute carrier family 34 (type II sodium/phosphate contransporter), member 2 | Caused by mutation in the solute carrier family 34 (sodium/phosphate cotransporter), member 2 gene (SLC34A2, {604217.0001}) | Human | SLC35A1 | 10559 | solute carrier family 35 (CMP-sialic acid transporter), member A1 | Caused by mutation in the solute carrier family 35, CMP-sialic acid transporter, member 1 gene (SLC35A1, {605634.0001}) | Human | SLC12A6 | 9990 | solute carrier family 12 (potassium/chloride transporter), member 6 | Increased frequency in the Charlevoix and Saguenat-Lac-St-Jean regions of Quebec, Canada (1 in 2,117 live births, carrier rate 1 in 23) Caused by mutation in the solute carrier family 12 (sodium/chloride transporter), member 6 gene (SLC12A6, {604878.0001}) | Human | RB1CC1 | 9821 | RB1-inducible coiled-coil 1 | Caused by mutations in the solute carrier family 22, member 1-like gene (SLC22A1L, {602631.0001}) | Human | SLC9A3R1 | 9368 | solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1 | Caused by mutation in the solute carrier family 9, isoform A3, regulatory factor 1 gene (SLC9A3R1, {604990.0001}) | Human | SLC7A7 | 9056 | solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 | Caused by mutation in the solute carrier family 7 (cationic amino acid transporter, y+ system), member 7 gene (SLC7A7, {603593.0001}) | Human | SLC4A4 | 8671 | solute carrier family 4 (sodium bicarbonate cotransporter), member 4 | Caused by mutations in the solute carrier family 4, sodium bicarbonate cotransporter, member 4 gene (SLC4A4, {603345.0001}) | Human | PPM1D | 8493 | protein phosphatase, Mg2+/Mn2+ dependent, 1D | Caused by mutations in the solute carrier family 22, member 1-like gene (SLC22A1L, {602631.0001}) | Human | PABPN1 | 8106 | poly(A) binding protein, nuclear 1 | Carrier frequency 1:1000 in French-Canadians in Quebec Carrier frequency 1:700 in Bukhara Jewish populations Carrier frequency 1:200,000 in France | Human | TP53 | 7157 | tumor protein p53 | Caused by mutations in the solute carrier family 22, member 1-like gene (SLC22A1L, {602631.0001}) | Human | SMS | 6611 | spermine synthase | Carrier females are normal | Human | SLC12A1 | 6557 | solute carrier family 12 (sodium/potassium/chloride transporter), member 1 | Caused by mutation in the solute carrier family 12 (sodium/potassium/chloride transporters), member 1 gene (SLC12A1, {600839.0001}) | Human | SLC2A1 | 6513 | solute carrier family 2 (facilitated glucose transporter), member 1 | Caused by mutations in the solute carrier family 2 (facilitated glucose transporter), member 1 gene (SLC2A1, {138140.0001}) | Human | TRAPPC2 | 6399 | trafficking protein particle complex 2 | Carrier females have arthralgias in middle age | Human | RP2 | 6102 | retinitis pigmentosa 2 (X-linked recessive) | Normal intelligence in carrier females | Human | RAD51 | 5888 | RAD51 recombinase | Caused by mutations in the solute carrier family 22, member 1-like gene (SLC22A1L, {602631.0001}) | Human | PIK3CA | 5290 | phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha | Caused by mutations in the solute carrier family 22, member 1-like gene (SLC22A1L, {602631.0001}) | Human | ABCB4 | 5244 | ATP-binding cassette, sub-family B (MDR/TAP), member 4 | Carrier females may develop intrahepatic cholestasis of pregnancy (ICP, {147480}) |
|