MCID: RRD062
MIFTS: 16

Rare Disorder with Lens Opacification

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Rare Disorder with Lens Opacification

MalaCards integrated aliases for Rare Disorder with Lens Opacification:

Name: Rare Disorder with Lens Opacification 58
Rare Cataract 58

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

UMLS via Orphanet 72 C0086543
Orphanet 58 ORPHA98640

Summaries for Rare Disorder with Lens Opacification

MalaCards based summary : Rare Disorder with Lens Opacification, also known as rare cataract, is related to cataract. An important gene associated with Rare Disorder with Lens Opacification is IARS2 (Isoleucyl-TRNA Synthetase 2, Mitochondrial). Affiliated tissues include eye, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Related Diseases for Rare Disorder with Lens Opacification

Diseases related to Rare Disorder with Lens Opacification via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 cataract 8.8 RHO LIM2 IARS2

Symptoms & Phenotypes for Rare Disorder with Lens Opacification

GenomeRNAi Phenotypes related to Rare Disorder with Lens Opacification according to GeneCards Suite gene sharing:

26 (showing 9, show less)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.32 IARS2
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.32 IARS2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-126 9.32 IARS2 RHO
4 Increased shRNA abundance (Z-score > 2) GR00366-A-143 9.32 IARS2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.32 RHO
6 Increased shRNA abundance (Z-score > 2) GR00366-A-211 9.32 IARS2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.32 IARS2
8 Increased shRNA abundance (Z-score > 2) GR00366-A-57 9.32 IARS2
9 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.32 IARS2

MGI Mouse Phenotypes related to Rare Disorder with Lens Opacification:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 8.8 IARS2 LIM2 RHO

Drugs & Therapeutics for Rare Disorder with Lens Opacification

Search Clinical Trials , NIH Clinical Center for Rare Disorder with Lens Opacification

Genetic Tests for Rare Disorder with Lens Opacification

Anatomical Context for Rare Disorder with Lens Opacification

MalaCards organs/tissues related to Rare Disorder with Lens Opacification:

40
Eye

Publications for Rare Disorder with Lens Opacification

Articles related to Rare Disorder with Lens Opacification:

(showing 3, show less)
# Title Authors PMID Year
1
Pseudomonas aeruginosa endophthalmitis caused by contamination of the internal fluid pathways of a phacoemulsifier. 61
10198860 1999
2
[Eye and general illnesses in the public school for blind and visually handicapped students in Saarland. Developments in the last 20 years]. 61
9531802 1998
3
[A rare from of congenital cataract]. 61
6855126 1983

Variations for Rare Disorder with Lens Opacification

ClinVar genetic disease variations for Rare Disorder with Lens Opacification:

6 (showing 136, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IARS2 NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu)SNV Pathogenic 156553 rs587783070 1:220316451-220316451 1:220143109-220143109
2 46;XY;inv(9)(q22.3q34.11)dninversion Pathogenic 267868
3 RHO NM_000539.3(RHO):c.891C>G (p.Ser297Arg)SNV Pathogenic 523376 rs142285818 3:129251570-129251570 3:129532727-129532727
4 LIM2 NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)SNV Pathogenic 625113 rs1568480054 19:51883831-51883831 19:51380577-51380577
5 WRN NM_000553.5(WRN):c.724+1G>TSNV Likely pathogenic 523380 rs1339616347 8:30925844-30925844 8:31068328-31068328
6 COL5A1 NM_001278074.1(COL5A1):c.608G>T (p.Gly203Val)SNV Likely pathogenic 523328 rs1554781700 9:137593133-137593133 9:134701287-134701287
7 COL18A1 NM_030582.4(COL18A1):c.1469-2A>GSNV Likely pathogenic 373962 rs765919785 21:46897323-46897323 21:45477409-45477409
8 COL18A1 NM_030582.4(COL18A1):c.3979C>T (p.Arg1327Ter)SNV Likely pathogenic 373961 rs1057518802 21:46929468-46929468 21:45509554-45509554
9 HSF4 NM_001040667.3(HSF4):c.1476C>A (p.Pro492=)SNV Conflicting interpretations of pathogenicity 320191 rs367756178 16:67203685-67203685 16:67169782-67169782
10 PITX2 NM_000325.6(PITX2):c.639A>T (p.Ser213=)SNV Conflicting interpretations of pathogenicity 283383 rs141176394 4:111539617-111539617 4:110618461-110618461
11 EPM2A NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)SNV Conflicting interpretations of pathogenicity 167038 rs150452237 6:146007358-146007358 6:145686222-145686222
12 UPF3B NM_080632.2(UPF3B):c.758T>C (p.Ile253Thr)SNV Uncertain significance 284394 rs754982440 X:118975088-118975088 X:119841125-119841125
13 CRYGD NM_006891.4(CRYGD):c.295A>G (p.Arg99Gly)SNV Uncertain significance 333870 rs886055527 2:208986627-208986627 2:208121903-208121903
14 CRYGD NM_006891.4(CRYGD):c.482A>G (p.Asn161Ser)SNV Uncertain significance 333868 rs760434926 2:208986440-208986440 2:208121716-208121716
15 CRYGD NM_006891.3(CRYGD):c.-80A>CSNV Uncertain significance 333880 rs886055528 2:208989277-208989277 2:208124553-208124553
16 XDH NM_000379.4(XDH):c.3647C>A (p.Pro1216His)SNV Uncertain significance 335760 rs143981573 2:31562482-31562482 2:31339616-31339616
17 BFSP2 NM_003571.4(BFSP2):c.422A>C (p.Glu141Ala)SNV Uncertain significance 343407 rs886058009 3:133119349-133119349 3:133400505-133400505
18 BFSP2 NM_003571.4(BFSP2):c.722A>G (p.Tyr241Cys)SNV Uncertain significance 343411 rs886058012 3:133167482-133167482 3:133448638-133448638
19 BFSP2 NM_003571.4(BFSP2):c.*226C>ASNV Uncertain significance 343418 rs574253958 3:133194042-133194042 3:133475198-133475198
20 PITX2 NM_000325.6(PITX2):c.*572T>CSNV Uncertain significance 347289 rs886059003 4:111538709-111538709 4:110617553-110617553
21 PITX2 NM_000325.6(PITX2):c.*373_*375GTT[1]short repeat Uncertain significance 347292 rs886059004 4:111538903-111538905 4:110617747-110617749
22 BFSP2 NM_003571.4(BFSP2):c.865G>A (p.Glu289Lys)SNV Uncertain significance 343412 rs145444931 3:133169282-133169282 3:133450438-133450438
23 BFSP2 NM_003571.4(BFSP2):c.5G>A (p.Ser2Asn)SNV Uncertain significance 343397 rs886058007 3:133118932-133118932 3:133400088-133400088
24 BFSP2 NM_003571.4(BFSP2):c.437G>T (p.Arg146Leu)SNV Uncertain significance 343408 rs148759360 3:133119364-133119364 3:133400520-133400520
25 BFSP2 NM_003571.4(BFSP2):c.701T>C (p.Leu234Pro)SNV Uncertain significance 343410 rs886058011 3:133167461-133167461 3:133448617-133448617
26 BFSP2 NM_003571.4(BFSP2):c.567A>G (p.Lys189=)SNV Uncertain significance 343409 rs886058010 3:133166238-133166238 3:133447394-133447394
27 PITX2 NM_000325.6(PITX2):c.*370G>CSNV Uncertain significance 347293 rs886059005 4:111538911-111538911 4:110617755-110617755
28 PITX2 NM_000325.6(PITX2):c.*264A>CSNV Uncertain significance 347295 rs886059006 4:111539017-111539017 4:110617861-110617861
29 PITX2 NM_000325.6(PITX2):c.412-11deldeletion Uncertain significance 347299 rs886059007 4:111539855-111539855 4:110618699-110618699
30 PITX2 NM_000325.6(PITX2):c.*611A>GSNV Uncertain significance 347288 rs886059002 4:111538670-111538670 4:110617514-110617514
31 PITX2 NM_000325.6(PITX2):c.*522T>CSNV Uncertain significance 347290 rs188349821 4:111538759-111538759 4:110617603-110617603
32 PITX2 NM_000325.6(PITX2):c.*119T>ASNV Uncertain significance 347297 rs765040142 4:111539162-111539162 4:110618006-110618006
33 MIP NM_012064.4(MIP):c.*1777dupduplication Uncertain significance 309861 rs886049688 12:56843286-56843287 12:56449502-56449503
34 MIP NM_012064.4(MIP):c.*1237_*1238dupduplication Uncertain significance 309864 rs111463603 12:56843825-56843826 12:56450041-56450042
35 MIP NM_012064.4(MIP):c.*601G>ASNV Uncertain significance 309874 rs565229690 12:56844463-56844463 12:56450679-56450679
36 HSF4 NM_001040667.3(HSF4):c.1127T>C (p.Leu376Pro)SNV Uncertain significance 320188 rs373962350 16:67202778-67202778 16:67168875-67168875
37 HSF4 NM_001040667.3(HSF4):c.*30deldeletion Uncertain significance 320192 rs756298250 16:67203717-67203717 16:67169814-67169814
38 HSF4 NM_001538.3(HSF4):c.*158_*159dupTTduplication Uncertain significance 320194 rs3215366 16:67203835-67203836 16:67169932-67169933
39 TALDO1 NM_006755.2(TALDO1):c.328A>G (p.Arg110Gly)SNV Uncertain significance 523493 rs766745943 11:759056-759056 11:759056-759056
40 XDH NM_000379.4(XDH):c.1172C>T (p.Pro391Leu)SNV Uncertain significance 598996 rs1558697792 2:31602803-31602803 2:31379937-31379937
41 HSF4 NM_001040667.3(HSF4):c.741G>A (p.Glu247=)SNV Uncertain significance 320186 rs373435397 16:67201389-67201389 16:67167486-67167486
42 MMAA NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)SNV Uncertain significance 523564 rs1328584680 4:146560595-146560595 4:145639443-145639443
43 EPM2A NM_005670.4(EPM2A):c.*1691G>ASNV Uncertain significance 523391 rs750320097 6:145946861-145946861 6:145625725-145625725
44 MIP NM_012064.4(MIP):c.*132deldeletion Uncertain significance 309882 rs886049691 12:56844932-56844932 12:56451148-56451148
45 MIP NM_012064.4(MIP):c.493G>A (p.Gly165Ser)SNV Uncertain significance 309884 rs886049692 12:56847407-56847407 12:56453623-56453623
46 MIP NM_012064.4(MIP):c.361-10C>TSNV Uncertain significance 309886 rs886049693 12:56847549-56847549 12:56453765-56453765
47 MIP NM_012064.4(MIP):c.98G>A (p.Arg33His)SNV Uncertain significance 309887 rs139963297 12:56848300-56848300 12:56454516-56454516
48 HSF4 NM_018378.3(FBXL8):c.896A>G (p.Tyr299Cys)SNV Uncertain significance 320166 rs777343855 16:67197494-67197494 16:67163591-67163591
49 HSF4 NM_001040667.3(HSF4):c.-191C>GSNV Uncertain significance 320174 rs769427775 16:67198524-67198524 16:67164621-67164621
50 HSF4 NM_001040667.3(HSF4):c.1137G>A (p.Pro379=)SNV Uncertain significance 320189 rs369862977 16:67202788-67202788 16:67168885-67168885
51 MIP NM_012064.4(MIP):c.*148dupduplication Uncertain significance 309881 rs35639464 12:56844915-56844916 12:56451131-56451132
52 MIP NM_012064.4(MIP):c.*1103C>TSNV Uncertain significance 309867 rs886049689 12:56843961-56843961 12:56450177-56450177
53 MIP NM_012064.4(MIP):c.*342C>TSNV Uncertain significance 309878 rs886049690 12:56844722-56844722 12:56450938-56450938
54 HSF4 NM_001040667.3(HSF4):c.-354C>ASNV Uncertain significance 320170 rs886052214 16:67198361-67198361 16:67164458-67164458
55 HSF4 NM_001040667.3(HSF4):c.-186C>TSNV Uncertain significance 320175 rs772601480 16:67198529-67198529 16:67164626-67164626
56 HSF4 NM_001040667.3(HSF4):c.-23C>TSNV Uncertain significance 320176 rs760188385 16:67198692-67198692 16:67164789-67164789
57 HSF4 NM_001040667.3(HSF4):c.32A>G (p.Glu11Gly)SNV Uncertain significance 320177 rs886052215 16:67198746-67198746 16:67164843-67164843
58 HSF4 NM_001040667.3(HSF4):c.1075C>A (p.Pro359Thr)SNV Uncertain significance 320187 rs886052216 16:67201843-67201843 16:67167940-67167940
59 HSF4 NM_018378.3(FBXL8):c.1090G>A (p.Glu364Lys)SNV Uncertain significance 320168 rs147591659 16:67197688-67197688 16:67163785-67163785
60 HSF4 NM_018378.3(FBXL8):c.*248A>GSNV Uncertain significance 320169 rs886052213 16:67197971-67197971 16:67164068-67164068
61 HSF4 NM_001040667.3(HSF4):c.203T>C (p.Met68Thr)SNV Uncertain significance 320178 rs751405773 16:67199504-67199504 16:67165601-67165601
62 HSF4 NM_001040667.3(HSF4):c.523C>G (p.Arg175Gly)SNV Uncertain significance 320181 rs377009893 16:67200260-67200260 16:67166357-67166357
63 HSF4 NM_001040667.3(HSF4):c.259G>A (p.Glu87Lys)SNV Uncertain significance 320179 rs367654370 16:67199648-67199648 16:67165745-67165745
64 HSF4 NM_001040667.3(HSF4):c.394C>T (p.Arg132Cys)SNV Uncertain significance 320180 rs769736356 16:67199882-67199882 16:67165979-67165979
65 HSF4 NM_001040667.3(HSF4):c.594G>T (p.Ala198=)SNV Uncertain significance 320183 rs763541172 16:67200493-67200493 16:67166590-67166590
66 HSF4 NM_001040667.3(HSF4):c.627-11C>TSNV Likely benign 320184 rs199856104 16:67201012-67201012 16:67167109-67167109
67 HSF4 NM_001040667.3(HSF4):c.636G>T (p.Met212Ile)SNV Likely benign 320185 rs199742128 16:67201032-67201032 16:67167129-67167129
68 HSF4 NM_001040667.3(HSF4):c.561+4T>GSNV Likely benign 320182 rs180744555 16:67200302-67200302 16:67166399-67166399
69 MIP NM_012064.4(MIP):c.-10C>ASNV Likely benign 309889 rs61759527 12:56848407-56848407 12:56454623-56454623
70 HSF4 NM_018378.3(FBXL8):c.775G>C (p.Glu259Gln)SNV Likely benign 320163 rs201429195 16:67197373-67197373 16:67163470-67163470
71 HSF4 NM_001040667.3(HSF4):c.-250C>TSNV Likely benign 320171 rs140579779 16:67198465-67198465 16:67164562-67164562
72 HSF4 NM_001040667.3(HSF4):c.-211A>GSNV Likely benign 320173 rs369313270 16:67198504-67198504 16:67164601-67164601
73 HSF4 NM_001040667.3(HSF4):c.*89G>TSNV Likely benign 320193 rs11642409 16:67203777-67203777 16:67169874-67169874
74 HSF4 NM_018378.3(FBXL8):c.823G>A (p.Val275Ile)SNV Likely benign 320165 rs201963745 16:67197421-67197421 16:67163518-67163518
75 MIP NM_012064.4(MIP):c.-4T>CSNV Likely benign 309888 rs117788190 12:56848401-56848401 12:56454617-56454617
76 MIP NM_012064.4(MIP):c.*1373A>GSNV Likely benign 309862 rs181959264 12:56843691-56843691 12:56449907-56449907
77 HSF4 NM_018378.3(FBXL8):c.1033G>C (p.Asp345His)SNV Likely benign 320167 rs200404151 16:67197631-67197631 16:67163728-67163728
78 MIP NM_012064.4(MIP):c.378C>T (p.Ser126=)SNV Likely benign 309885 rs35033450 12:56847522-56847522 12:56453738-56453738
79 MIP NM_012064.4(MIP):c.*407A>GSNV Likely benign 309877 rs72478920 12:56844657-56844657 12:56450873-56450873
80 MIP NM_012064.4(MIP):c.*284T>CSNV Likely benign 309879 rs148601602 12:56844780-56844780 12:56450996-56450996
81 HSF4 NM_001040667.3(HSF4):c.1395C>A (p.Gly465=)SNV Likely benign 320190 rs28364624 16:67203604-67203604 16:67169701-67169701
82 HSF4 NM_018378.3(FBXL8):c.803_804CG[4] (p.Val270fs)short repeat Likely benign 320164 rs763526640 16:67197400-67197401 16:67163497-67163498
83 HSF4 NM_001040667.3(HSF4):c.-223C>TSNV Likely benign 320172 rs192479571 16:67198492-67198492 16:67164589-67164589
84 MIP NM_012064.4(MIP):c.*491A>CSNV Likely benign 309876 rs137926387 12:56844573-56844573 12:56450789-56450789
85 MIP NM_012064.4(MIP):c.*799A>GSNV Likely benign 309868 rs140453442 12:56844265-56844265 12:56450481-56450481
86 MIP NM_012064.4(MIP):c.*674G>ASNV Likely benign 309872 rs150155933 12:56844390-56844390 12:56450606-56450606
87 MIP NM_012064.4(MIP):c.*774G>CSNV Likely benign 309869 rs66826398 12:56844290-56844290 12:56450506-56450506
88 PITX2 NM_000325.6(PITX2):c.862C>T (p.Leu288=)SNV Likely benign 347298 rs139401187 4:111539394-111539394 4:110618238-110618238
89 PITX2 NM_000325.6(PITX2):c.224A>C (p.Gln75Pro)SNV Likely benign 347300 rs201628949 4:111542507-111542507 4:110621351-110621351
90 MIP NM_012064.4(MIP):c.*1201_*1203ATT[2]short repeat Likely benign 309865 rs540359096 12:56843855-56843857 12:56450071-56450073
91 PITX2 NM_000325.6(PITX2):c.*471G>ASNV Likely benign 347291 rs75911264 4:111538810-111538810 4:110617654-110617654
92 PITX2 NM_000325.6(PITX2):c.*176A>TSNV Likely benign 347296 rs567517676 4:111539105-111539105 4:110617949-110617949
93 BFSP2 NM_003571.4(BFSP2):c.*132G>CSNV Likely benign 343414 rs578233592 3:133193948-133193948 3:133475104-133475104
94 BFSP2 NM_003571.4(BFSP2):c.*159T>GSNV Likely benign 343416 rs540920442 3:133193975-133193975 3:133475131-133475131
95 CRYGD NM_006891.4(CRYGD):c.-40C>TSNV Likely benign 333878 rs113618781 2:208989237-208989237 2:208124513-208124513
96 BFSP2 NM_003571.4(BFSP2):c.410G>A (p.Arg137Gln)SNV Likely benign 343406 rs80176276 3:133119337-133119337 3:133400493-133400493
97 BFSP2 NM_003571.4(BFSP2):c.100T>C (p.Ser34Pro)SNV Likely benign 343399 rs200208769 3:133119027-133119027 3:133400183-133400183
98 BFSP2 NM_003571.4(BFSP2):c.246T>C (p.Ser82=)SNV Likely benign 343401 rs145934653 3:133119173-133119173 3:133400329-133400329
99 BFSP2 NM_003571.4(BFSP2):c.*73C>TSNV Likely benign 343413 rs537979573 3:133193889-133193889 3:133475045-133475045
100 PITX2 NM_000325.6(PITX2):c.*340A>GSNV Likely benign 347294 rs551209662 4:111538941-111538941 4:110617785-110617785
101 BFSP2 NM_003571.4(BFSP2):c.*140deldeletion Likely benign 343415 rs139190094 3:133193955-133193955 3:133475111-133475111
102 BFSP2 NM_003571.4(BFSP2):c.*209C>TSNV Likely benign 343417 rs150374124 3:133194025-133194025 3:133475181-133475181
103 BFSP2 NM_003571.4(BFSP2):c.366G>A (p.Val122=)SNV Likely benign 343403 rs139476224 3:133119293-133119293 3:133400449-133400449
104 CRYGD NM_006891.4(CRYGD):c.-39C>TSNV Likely benign 333877 rs765407471 2:208989236-208989236 2:208124512-208124512
105 CRYGD NM_006891.3(CRYGD):c.-77T>CSNV Likely benign 333879 rs575552206 2:208989274-208989274 2:208124550-208124550
106 CRYGD NM_006891.4(CRYGD):c.264C>G (p.His88Gln)SNV Likely benign 333871 rs75156162 2:208986658-208986658 2:208121934-208121934
107 CRYGD NM_006891.4(CRYGD):c.252+10T>ASNV Likely benign 333872 rs200111275 2:208988826-208988826 2:208124102-208124102
108 CRYGD NM_006891.4(CRYGD):c.10-7C>GSNV Benign/Likely benign 333876 rs189582567 2:208989085-208989085 2:208124361-208124361
109 CRYGD NM_006891.4(CRYGD):c.252+7A>GSNV Benign/Likely benign 333873 rs185860020 2:208988829-208988829 2:208124105-208124105
110 CRYGD NM_006891.4(CRYGD):c.130A>G (p.Met44Val)SNV Benign/Likely benign 333875 rs61731517 2:208988958-208988958 2:208124234-208124234
111 PITX2 NM_000325.6(PITX2):c.618T>G (p.Ser206=)SNV Benign/Likely benign 262718 rs35946364 4:111539638-111539638 4:110618482-110618482
112 MIP NM_012064.4(MIP):c.319G>A (p.Val107Ile)SNV Benign/Likely benign 260169 rs74641138 12:56848079-56848079 12:56454295-56454295
113 PITX2 NM_000325.6(PITX2):c.819G>A (p.Pro273=)SNV Benign/Likely benign 167472 rs148191851 4:111539437-111539437 4:110618281-110618281
114 PITX2 NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)SNV Benign/Likely benign 197884 rs77144743 4:111539694-111539694 4:110618538-110618538
115 CRYGD NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter)SNV Benign/Likely benign 333874 rs202233735 2:208988920-208988920 2:208124196-208124196
116 BFSP2 NM_003571.4(BFSP2):c.75G>A (p.Ala25=)SNV Benign/Likely benign 343398 rs146992682 3:133119002-133119002 3:133400158-133400158
117 BFSP2 NM_003571.4(BFSP2):c.162C>T (p.Pro54=)SNV Benign/Likely benign 343400 rs112142146 3:133119089-133119089 3:133400245-133400245
118 CRYGD NM_006891.4(CRYGD):c.499C>T (p.Leu167=)SNV Benign/Likely benign 333867 rs774626835 2:208986423-208986423 2:208121699-208121699
119 CRYGD NM_006891.4(CRYGD):c.376G>A (p.Val126Met)SNV Benign/Likely benign 333869 rs150318966 2:208986546-208986546 2:208121822-208121822
120 BFSP2 NM_003571.4(BFSP2):c.369C>T (p.His123=)SNV Benign/Likely benign 343404 rs34163197 3:133119296-133119296 3:133400452-133400452
121 BFSP2 NM_003571.4(BFSP2):c.379C>G (p.Gln127Glu)SNV Benign/Likely benign 343405 rs185816798 3:133119306-133119306 3:133400462-133400462
122 MIP NM_012064.4(MIP):c.*762_*763deldeletion Benign 309870 rs3840772 12:56844301-56844302 12:56450517-56450518
123 MIP NM_012064.4(MIP):c.*715G>ASNV Benign 309871 rs3809125 12:56844349-56844349 12:56450565-56450565
124 MIP NM_012064.4(MIP):c.*615A>GSNV Benign 309873 rs17118657 12:56844449-56844449 12:56450665-56450665
125 MIP NM_012064.4(MIP):c.*1238dupduplication Benign 309863 rs111463603 12:56843825-56843826 12:56450041-56450042
126 MIP NM_012064.4(MIP):c.*1171C>ASNV Benign 309866 rs2371455 12:56843893-56843893 12:56450109-56450109
127 MIP NM_012064.4(MIP):c.*505T>CSNV Benign 309875 rs774053 12:56844559-56844559 12:56450775-56450775
128 CRYGD NM_006891.4(CRYGD):c.*12T>CSNV Benign 260059 rs2305429 2:208986385-208986385 2:208121661-208121661
129 CRYGD NM_006891.4(CRYGD):c.285A>G (p.Arg95=)SNV Benign 260061 rs2305430 2:208986637-208986637 2:208121913-208121913
130 CRYGD NM_006891.4(CRYGD):c.51T>C (p.Tyr17=)SNV Benign 260062 rs2242074 2:208989037-208989037 2:208124313-208124313
131 BFSP2 NM_003571.4(BFSP2):c.1220C>A (p.Ala407Asp)SNV Benign 259089 rs79087781 3:133191385-133191385 3:133472541-133472541
132 PITX2 NM_000325.6(PITX2):c.*454C>TSNV Benign 183253 rs6533526 4:111538827-111538827 4:110617671-110617671
133 HSF4 NM_001040667.3(HSF4):c.123+9C>TSNV Benign 258163 rs115335849 16:67198846-67198846 16:67164943-67164943
134 HSF4 NM_018378.3(FBXL8):c.711G>A (p.Leu237=)SNV Benign 320162 rs61735433 16:67197309-67197309 16:67163406-67163406
135 MIP NM_012064.4(MIP):c.*148deldeletion Benign 309880 rs35639464 12:56844916-56844916 12:56451132-56451132
136 MIP NM_012064.4(MIP):c.*94T>GSNV Benign 309883 rs2935008 12:56844970-56844970 12:56451186-56451186

Expression for Rare Disorder with Lens Opacification

Search GEO for disease gene expression data for Rare Disorder with Lens Opacification.

Pathways for Rare Disorder with Lens Opacification

GO Terms for Rare Disorder with Lens Opacification

Sources for Rare Disorder with Lens Opacification

3 CDC
7 CNVD
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11 DGIdb
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