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	ptosis

Disease ID	1067
Disease	ptosis
Definition	Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle.
Synonym	blepharoptoses blepharoptosis blepharoptosis [disease/finding] drooped eyelid drooping eyelid drooping upper eyelid droopy eyelid droopy eyelids eyelid droop eyelid drooping eyelid ptoses eyelid ptosis eyelids ptosis ptoses, eyelid ptosis eyelid ptosis of eyelid ptosis of eyelid (disorder) ptosis of eyelid nos ptosis of eyelid nos (disorder) ptosis of eyelid, nos ptosis of eyelid, unspecified ptosis, eyelid unspecified ptosis of eyelid unspecified ptosis of eyelid (disorder)
Orphanet	ORPHANET:98578
DOID	DOID:0060260
UMLS	C0005745
MeSH	D001763
SNOMED-CT	SNOMEDCT_US_2016_09_01:11934000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:57) C0029089 \| ophthalmoplegia \| 11 C0002418 \| amblyopia \| 5 C0038379 \| strabismus \| 4 C0026848 \| myopathy \| 3 C0013592 \| ectropion \| 3 C0026896 \| myasthenia gravis \| 3 C0017921 \| pompe disease \| 2 C0033687 \| proteinuria \| 2 C0026850 \| muscular dystrophy \| 2 C0025958 \| microcephaly \| 2 C0012569 \| diplopia \| 2 C0019937 \| horner's syndrome \| 2 C0022541 \| kearns-sayre syndrome \| 2 C0005744 \| blepharophimosis \| 2 C0021053 \| immune disorder \| 2 C0028866 \| third nerve palsy \| 2 C0010678 \| cysticercosis \| 1 C0020676 \| hypothyroidism \| 1 C0011847 \| diabetes \| 1 C0220708 \| vater association \| 1 C0015397 \| eye disease \| 1 C0270952 \| oculopharyngeal muscular dystrophy \| 1 C0029089 \| oculomotor paralysis \| 1 C0431399 \| joubert syndrome \| 1 C0004106 \| astigmatism \| 1 C0220650 \| brain metastasis \| 1 C0751955 \| brain infarct \| 1 C0152134 \| internuclear ophthalmoplegia \| 1 C0015310 \| exotropia \| 1 C0151311 \| cranial nerve palsy \| 1 C0035334 \| retinitis pigmentosa \| 1 C0003076 \| aniridia \| 1 C0376545 \| hematologic malignancy \| 1 C0028866 \| oculomotor nerve palsy \| 1 C0751955 \| brain infarction \| 1 C0242287 \| neuromyotonia \| 1 C0027092 \| myopia \| 1 C0028754 \| obesity \| 1 C0235270 \| keratopathy \| 1 C0034951 \| refractive error \| 1 C0039614 \| tetanus \| 1 C0752121 \| spinocerebellar ataxia type 2 \| 1 C0004134 \| ataxia \| 1 C0035333 \| retinitis \| 1 C0018552 \| hamartoma \| 1 C0005745 \| ptosis \| 1 C0079298 \| epidermolysis bullosa simplex \| 1 C0027830 \| neurofibromas \| 1 C0206728 \| plexiform neurofibroma \| 1 C0020538 \| hypertension \| 1 C0020565 \| breast hypertrophy \| 1 C0206728 \| plexiform neurofibromas \| 1 C0014877 \| esotropia \| 1 C0339143 \| thyroid orbitopathy \| 1 C0339143 \| thyroid eye disease \| 1 C0014527 \| epidermolysis bullosa \| 1 C0010346 \| crohn's disease \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:182) 65985 \| AACS \| 1.463 \| DISEASES 39 \| ACAT2 \| 1.991 \| DISEASES 58 \| ACTA1 \| 1.187 \| DISEASES 60 \| ACTB \| 2.069 \| DISEASES 71 \| ACTG1 \| 3.323 \| DISEASES 375790 \| AGRN \| 1.4 \| DISEASES 121642 \| ALKBH2 \| 1.623 \| DISEASES 257 \| ALX3 \| 2.588 \| DISEASES 60529 \| ALX4 \| 2.691 \| DISEASES 84334 \| APOPT1 \| 1.871 \| DISEASES 2909 \| ARHGAP35 \| 1.382 \| DISEASES 200894 \| ARL13B \| 1.586 \| DISEASES 9048 \| ARTN \| 1.128 \| DISEASES 481 \| ATP1B1 \| 1.683 \| DISEASES 491 \| ATP2B2 \| 2.875 \| DISEASES 493 \| ATP2B4 \| 1.307 \| DISEASES 60467 \| BPESC1 \| 3.166 \| DISEASES 7862 \| BRPF1 \| 1.969 \| DISEASES 51161 \| C3orf18 \| 2.204 \| DISEASES 9254 \| CACNA2D2 \| 1.628 \| DISEASES 820 \| CAMP \| 1.578 \| DISEASES 57545 \| CC2D2A \| 2.633 \| DISEASES 885 \| CCK \| 2.185 \| DISEASES 959 \| CD40LG \| 1.784 \| DISEASES 1066 \| CES1 \| 1.651 \| DISEASES 221223 \| CES5A \| 1.941 \| DISEASES 1103 \| CHAT \| 1.692 \| DISEASES 1107 \| CHD3 \| 1.755 \| DISEASES 1123 \| CHN1 \| 4.827 \| DISEASES 9469 \| CHST3 \| 1.341 \| DISEASES 152330 \| CNTN4 \| 2.882 \| DISEASES 84570 \| COL25A1 \| 2.193 \| DISEASES 1280 \| COL2A1 \| 1.146 \| DISEASES 8292 \| COLQ \| 3.608 \| DISEASES 9276 \| COPB2 \| 3.292 \| DISEASES 51004 \| COQ6 \| 1.918 \| DISEASES 10229 \| COQ7 \| 1.723 \| DISEASES 64764 \| CREB3L2 \| 1.328 \| DISEASES 80319 \| CXXC4 \| 2.008 \| DISEASES 1538 \| CYLC1 \| 1.181 \| DISEASES 192668 \| CYS1 \| 1.093 \| DISEASES 1621 \| DBH \| 3.393 \| DISEASES 1644 \| DDC \| 3.356 \| DISEASES 10522 \| DEAF1 \| 1.67 \| DISEASES 1717 \| DHCR7 \| 2.308 \| DISEASES 9704 \| DHX34 \| 2.854 \| DISEASES 1745 \| DLX1 \| 1.511 \| DISEASES 1760 \| DMPK \| 1.905 \| DISEASES 1763 \| DNA2 \| 1.367 \| DISEASES 1785 \| DNM2 \| 3.256 \| DISEASES 81704 \| DOCK8 \| 2.414 \| DISEASES 285489 \| DOK7 \| 3.482 \| DISEASES 1798 \| DPAGT1 \| 5.252 \| DISEASES 1805 \| DPT \| 1.533 \| DISEASES 1810 \| DR1 \| 1.882 \| DISEASES 83658 \| DYNLRB1 \| 1.234 \| DISEASES 10682 \| EBP \| 1.275 \| DISEASES 1961 \| EGR4 \| 1.707 \| DISEASES 2036 \| EPB41L1 \| 1.896 \| DISEASES 2098 \| ESD \| 2.133 \| DISEASES 2132 \| EXT2 \| 1.382 \| DISEASES 2152 \| F3 \| 1.133 \| DISEASES 2199 \| FBLN2 \| 1.427 \| DISEASES 2245 \| FGD1 \| 1.332 \| DISEASES 2263 \| FGFR2 \| 1.032 \| DISEASES 2261 \| FGFR3 \| 1.416 \| DISEASES 2303 \| FOXC2 \| 3.456 \| DISEASES 668 \| FOXL2 \| 6.415 \| DISEASES 2517 \| FUCA1 \| 1.344 \| DISEASES 2550 \| GABBR1 \| 1.134 \| DISEASES 2643 \| GCH1 \| 1.211 \| DISEASES 9573 \| GDF3 \| 1.244 \| DISEASES 2709 \| GJB5 \| 2.13 \| DISEASES 342035 \| GLDN \| 1.808 \| DISEASES 10223 \| GPA33 \| 1.713 \| DISEASES 2719 \| GPC3 \| 1.344 \| DISEASES 4935 \| GPR143 \| 1.349 \| DISEASES 8091 \| HMGA2 \| 1.186 \| DISEASES 3211 \| HOXB1 \| 1.548 \| DISEASES 3339 \| HSPG2 \| 2.109 \| DISEASES 3363 \| HTR7 \| 2.874 \| DISEASES 3547 \| IGSF1 \| 1.662 \| DISEASES 56623 \| INPP5E \| 1.913 \| DISEASES 387755 \| INSC \| 2.174 \| DISEASES 83737 \| ITCH \| 1.249 \| DISEASES 3679 \| ITGA7 \| 1.565 \| DISEASES 102723508 \| KANTR \| 4.987 \| DISEASES 55605 \| KIF21A \| 5.777 \| DISEASES 3908 \| LAMA2 \| 1.791 \| DISEASES 54900 \| LAX1 \| 3.507 \| DISEASES 4000 \| LMNA \| 1.235 \| DISEASES 4128 \| MAOA \| 2.918 \| DISEASES 4129 \| MAOB \| 2.647 \| DISEASES 7867 \| MAPKAPK3 \| 1.624 \| DISEASES 83742 \| MARVELD1 \| 1.483 \| DISEASES 4152 \| MBD1 \| 1.141 \| DISEASES 55777 \| MBD5 \| 6.934 \| DISEASES 56917 \| MEIS3 \| 2.384 \| DISEASES 8510 \| MMP23B \| 1.724 \| DISEASES 4508 \| MT-ATP6 \| 2.949 \| DISEASES 4509 \| MT-ATP8 \| 2.233 \| DISEASES 4519 \| MT-CYB \| 1.628 \| DISEASES 4534 \| MTM1 \| 3.778 \| DISEASES 4540 \| MT-ND5 \| 2.517 \| DISEASES 4541 \| MT-ND6 \| 1.978 \| DISEASES 4549 \| MT-RNR1 \| 1.293 \| DISEASES 4553 \| MT-TA \| 1.861 \| DISEASES 4566 \| MT-TK \| 2.407 \| DISEASES 4568 \| MT-TL2 \| 2.292 \| DISEASES 4574 \| MT-TS1 \| 1.891 \| DISEASES 4578 \| MT-TW \| 1.984 \| DISEASES 4593 \| MUSK \| 4.513 \| DISEASES 4625 \| MYH7 \| 1.773 \| DISEASES 4626 \| MYH8 \| 2.504 \| DISEASES 79133 \| NDUFAF5 \| 2.711 \| DISEASES 137682 \| NDUFAF6 \| 2.241 \| DISEASES 4719 \| NDUFS1 \| 1.596 \| DISEASES 4723 \| NDUFV1 \| 2.494 \| DISEASES 4763 \| NF1 \| 2 \| DISEASES 10528 \| NOP56 \| 1.679 \| DISEASES 4861 \| NPAS1 \| 2.246 \| DISEASES 7181 \| NR2C1 \| 2.148 \| DISEASES 7182 \| NR2C2 \| 1.717 \| DISEASES 9542 \| NRG2 \| 1.683 \| DISEASES 22978 \| NT5C2 \| 1.035 \| DISEASES 8481 \| OFD1 \| 1.178 \| DISEASES 4958 \| OMD \| 1.832 \| DISEASES 4988 \| OPRM1 \| 1.082 \| DISEASES 55074 \| OXR1 \| 1.837 \| DISEASES 5080 \| PAX6 \| 3.383 \| DISEASES 5160 \| PDHA1 \| 1.939 \| DISEASES 5828 \| PEX2 \| 1.454 \| DISEASES 5238 \| PGM3 \| 1.215 \| DISEASES 63895 \| PIEZO2 \| 3.016 \| DISEASES 140464 \| PISRT1 \| 2.97 \| DISEASES 5339 \| PLEC \| 2.464 \| DISEASES 10687 \| PNMA2 \| 1.304 \| DISEASES 11232 \| POLG2 \| 2.517 \| DISEASES 728378 \| POTEF \| 3.211 \| DISEASES 5455 \| POU3F3 \| 1.194 \| DISEASES 221823 \| PRPS1L1 \| 1.668 \| DISEASES 5781 \| PTPN11 \| 2.654 \| DISEASES 22930 \| RAB3GAP1 \| 1.368 \| DISEASES 83695 \| RHNO1 \| 2.734 \| DISEASES 84282 \| RNF135 \| 2.126 \| DISEASES 64221 \| ROBO3 \| 2.287 \| DISEASES 6261 \| RYR1 \| 3.916 \| DISEASES 55209 \| SETD5 \| 2.157 \| DISEASES 117157 \| SH2D1B \| 1.722 \| DISEASES 6572 \| SLC18A3 \| 1.64 \| DISEASES 4093 \| SMAD9 \| 1.461 \| DISEASES 23583 \| SMUG1 \| 1.092 \| DISEASES 6622 \| SNCA \| 1.342 \| DISEASES 23161 \| SNX13 \| 2.707 \| DISEASES 6651 \| SON \| 1.74 \| DISEASES 6654 \| SOS1 \| 1.22 \| DISEASES 54345 \| SOX18 \| 1.284 \| DISEASES 23384 \| SPECC1L \| 2.768 \| DISEASES 10011 \| SRA1 \| 1.719 \| DISEASES 9901 \| SRGAP3 \| 1.599 \| DISEASES 81551 \| STMN4 \| 1.834 \| DISEASES 8803 \| SUCLA2 \| 1.341 \| DISEASES 6834 \| SURF1 \| 2.318 \| DISEASES 10716 \| TBR1 \| 1.409 \| DISEASES 50945 \| TBX22 \| 1.198 \| DISEASES 6949 \| TCOF1 \| 1.362 \| DISEASES 7054 \| TH \| 1.204 \| DISEASES 51259 \| TMEM216 \| 1.983 \| DISEASES 7169 \| TPM2 \| 1.988 \| DISEASES 7170 \| TPM3 \| 2.202 \| DISEASES 11076 \| TPPP \| 1.312 \| DISEASES 83696 \| TRAPPC9 \| 1.533 \| DISEASES 140803 \| TRPM6 \| 1.023 \| DISEASES 7227 \| TRPS1 \| 1.083 \| DISEASES 10381 \| TUBB3 \| 2.544 \| DISEASES 89910 \| UBE3B \| 3.242 \| DISEASES 7402 \| UTRN \| 1.186 \| DISEASES 7444 \| VRK2 \| 1.78 \| DISEASES 79776 \| ZFHX4 \| 4.447 \| DISEASES 7546 \| ZIC2 \| 1.063 \| DISEASES 84107 \| ZIC4 \| 1.798 \| DISEASES 7694 \| ZNF135 \| 1.212 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1067
Disease	ptosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:86) HP:0000602 \| Ophthalmoplegia \| 12 HP:0001324 \| Muscular weakness \| 6 HP:0007824 \| Total ophthalmoplegia \| 6 HP:0003473 \| Fatigable weakness \| 6 HP:0000646 \| Wandering eyes \| 5 HP:0000486 \| Squint eyes \| 5 HP:0012531 \| Pain \| 4 HP:0000316 \| Increased distance between eye sockets \| 4 HP:0003470 \| Inability to move \| 4 HP:0000544 \| CPEO \| 4 HP:0000656 \| Ectropion \| 3 HP:0003198 \| Myopathic changes \| 3 HP:0000651 \| Diplopia \| 3 HP:0002015 \| Swallowing difficulty \| 2 HP:0011499 \| Mydriasis \| 2 HP:0002277 \| Horner's syndrome \| 2 HP:0000093 \| Proteinuria \| 2 HP:0000581 \| Blepharophimosis \| 2 HP:0000969 \| Dropsy \| 2 HP:0001999 \| Facial dysmorphism \| 2 HP:0000506 \| Telecanthus \| 2 HP:0001491 \| Congenital fibrosis of the extraocular muscles \| 2 HP:0000490 \| Sunken eyes \| 2 HP:0002315 \| Headaches \| 2 HP:0003324 \| Muscle weakness, diffuse \| 2 HP:0000252 \| Small head circumference \| 2 HP:0003560 \| Muscular dystrophy \| 2 HP:0001941 \| acidemia \| 1 HP:0000565 \| Inward turning of one or both eyes \| 1 HP:0002721 \| Immunodeficiency \| 1 HP:0000577 \| Exotropia \| 1 HP:0010313 \| Gigantomastia \| 1 HP:0009890 \| High anterior hairline \| 1 HP:0000537 \| Epicanthus inversus \| 1 HP:0001824 \| Weight loss \| 1 HP:0001067 \| Neurofibromas \| 1 HP:0000821 \| Underactive thyroid \| 1 HP:0012246 \| Oculomotor nerve palsy \| 1 HP:0000790 \| Hematuria \| 1 HP:0003546 \| Exercise intolerance \| 1 HP:0008070 \| Thinned hair \| 1 HP:0007209 \| Facial paresis \| 1 HP:0005484 \| Acquired microcephaly \| 1 HP:0001347 \| Hyperreflexia \| 1 HP:0000248 \| Brachycephaly \| 1 HP:0001291 \| Cranial nerve disease \| 1 HP:0001371 \| Flexion contractures of joints \| 1 HP:0000526 \| Absent iris \| 1 HP:0002579 \| Gastrointestinal dysmotility \| 1 HP:0001059 \| Pterygium \| 1 HP:0010566 \| Hamartoma \| 1 HP:0009732 \| Plexiform neurofibroma \| 1 HP:0030833 \| Neck pain \| 1 HP:0000822 \| Hypertension \| 1 HP:0000483 \| Astigmatism \| 1 HP:0000286 \| Palpebronasal fold \| 1 HP:0100540 \| Swelling of eyelids \| 1 HP:0000365 \| Hearing impairment \| 1 HP:0001609 \| Hoarseness \| 1 HP:0011787 \| Central hypothyroidism \| 1 HP:0002027 \| Abdominal pain \| 1 HP:0000510 \| Retinitis pigmentosa \| 1 HP:0000505 \| Poor vision \| 1 HP:0012199 \| Cluster headache \| 1 HP:0000478 \| Abnormal eye \| 1 HP:0001251 \| Ataxia \| 1 HP:0001385 \| Congenital hip dysplasia \| 1 HP:0003187 \| Underdeveloped breasts \| 1 HP:0001510 \| Growth deficiency \| 1 HP:0006824 \| Cranial nerve palsy \| 1 HP:0030773 \| Internuclear ophthalmoplegia \| 1 HP:0000975 \| Increased sweating \| 1 HP:0000487 \| Congenital strabismus \| 1 HP:0001114 \| Fatty deposits on eyelids \| 1 HP:0000194 \| Slack jawed appearance \| 1 HP:0001513 \| Obesity \| 1 HP:0000311 \| Round facial shape \| 1 HP:0000508 \| Drooping upper eyelid \| 1 HP:0007936 \| Restrictive external ophthalmoplegia \| 1 HP:0000522 \| Absent lacrimal fluids \| 1 HP:0012378 \| Fatigue \| 1 HP:0100280 \| Morbus Crohn \| 1 HP:0000473 \| Spasmodic torticollis \| 1 HP:0010828 \| Hemifacial spasm \| 1 HP:0000545 \| Near sightedness \| 1 HP:0001582 \| Loose redundant skin \| 1

Disease ID	1067
Disease	ptosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:7) C2700542 \| aniridia C2020541 \| strabismus C0263409 \| linear scleroderma C0152189 \| stimulus deprivation amblyopia C0036454 \| visual field loss C0032001 \| pituitary apoplexy C0002418 \| amblyopia
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:4) C0038379 \| strabismus \| 5 C0002418 \| amblyopia \| 4 C0003076 \| aniridia \| 1 C0152189 \| stimulus deprivation amblyopia \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs113994095	18546343	5428	POLG	umls:C0005745	BeFree	Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.	0.000271442	2008	POLG;MIR6766	15	89327201	C	T
rs113994095	18546343	5428	POLG	umls:C0033377	BeFree	Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.	0.000271442	2008	POLG;MIR6766	15	89327201	C	T
rs113994097	18546343	5428	POLG	umls:C0005745	BeFree	Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.	0.000271442	2008	POLG	15	89323426	C	G
rs113994097	18546343	5428	POLG	umls:C0033377	BeFree	Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.	0.000271442	2008	POLG	15	89323426	C	G

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	1067
Disease	ptosis
Case	(Waiting for update.)

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