Disease #00128 (CF (cystic fibrosis (CF)), OMIM:219700)

Official abbreviation CF
Name cystic fibrosis (CF)
OMIM ID 219700
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 549
Phenotype entries for this disease 541
Associated with 3 genes CFTR, FCGR2A, TGFB1
Associated tissues -
Disease features -
Remarks -


Individuals

549 entries on 6 pages. Showing entries 1 - 100.
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00000011 - PubMed: Bell 2011 - M - - - - 0 - - autism, BMD/DMD, CF, deafness - ACADM, ADA, ATP7B, ATR, BSND, CFTR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, SERPINA1, SMPD1 ADA, ATP7B, ATR, DMD, DPYD, GLB1, IGHMBP2, NHLRC1, PRKAR1A, SERPINA1, SMPD1, TMPPE 11 1 Global Variome, with Curator vacancy
00001226 - the CFTR2 database see CFTR2 database for details - - - (not applicable) - - 0 - - CF - CFTR CFTR 435 1 Johan den Dunnen
00035167 - - - - - Germany - - 0 - - CF clinical CF CFTR CFTR 1 1 Andreas Laner
00035171 - - - - - Germany - - 0 - - CF cystic fibrosis CFTR CFTR 1 1 Andreas Laner
00035182 - - - - - Germany - - 0 - - CF cystic fibrosis CFTR CFTR 1 1 Andreas Laner
00035183 - - - - - Germany - - 0 - - CF cystic fibrosis CFTR CFTR 1 1 Andreas Laner
00035186 - - - - - Germany - - 0 - - CF cystic fibrosis CFTR CFTR 1 1 Andreas Laner
00164653 - - - F ? Russian Federation Caucasian 15y 0 - - CF Cystic fibrosis, mixed type, severe course. Chronic purulent obstructive bronchitis. Chronic pancreatic insufficiency. Bronchiectasis. Cirrhosis CFTR CFTR 1 1 Zobkova Gaukhar Yurevna
00164654 - - - F ? (Russian Federation) Caucasian 08y 0 - - CF Cystic fibrosis mixed type, severe course. Chronic pancreatic insufficiency. Bronchiectases CFTR CFTR 1 1 Zobkova Gaukhar Yurevna
00164657 - - - M ? (Russian Federation) Caucasian 17y 0 - - CF Cystic fibrosis, mixed type, severe course. Chronic purulent obstructive bronchitis. Chronic pancreatic insufficiency. Chronic polyposis rhinosinusitis. CFTR CFTR 1 1 Zobkova Gaukhar Yurevna
00164659 - - - M ? (Russian Federation) Caucasian 09y 0 - - CF Cystic fibrosis mixed type, severe course. Chronic purulent bronchitis. Chronic pancreatic insufficiency. Cirrhosis associated with cystic fibrosis. Chronic polyposis rhinosinusitis. CFTR CFTR 1 1 Zobkova Gaukhar Yurevna
00271321 VL IV:1 PubMed: Poulter 2012 PubMed: Savarese 2014 4 generation family, 1 affected F yes Pakistan - - 0 - - CF, EVR-5, EVR;FEVR familial exudative vitreoretinopathy (HP:0030490), bilateral retinal folds (HP:0008052) CFTR, TSPAN12 CFTR, TSPAN12 2 1 Jasmine Chen
00296871 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 2 1 Erina Sasaki
00296876 - Sasaki 2020, submitted - - no Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00296877 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00296878 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 2 1 Erina Sasaki
00299457 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299458 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299459 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299460 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299461 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299462 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299463 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299464 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299465 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299466 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299467 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299468 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299469 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299470 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299471 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299472 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299473 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299474 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299475 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299476 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299477 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299478 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299479 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299480 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299481 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299482 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299483 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299484 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299485 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299486 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299487 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299488 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299489 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299490 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299491 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299492 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299493 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299494 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299495 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299496 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299497 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299498 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299499 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299500 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299501 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299502 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299503 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299504 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299505 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299506 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299507 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299508 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299509 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299510 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299511 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299512 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299513 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299514 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299515 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299516 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299517 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299518 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299519 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299520 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299521 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299522 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299523 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299524 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299525 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299526 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299527 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299528 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299529 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299530 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299531 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299532 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299533 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299534 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299535 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299536 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299537 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299538 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299539 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
00299540 - Sasaki 2020, submitted - - - Ireland - - 0 - - CF elevated sweat chloride (HP:0012236) CFTR CFTR 1 1 Erina Sasaki
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