Mitochondria Phenome Knowledgebase

Phenotypic Feature Skin-diseases finds 56 Gene-Feature associations that are associated with 56 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCB7 301310 Skin-diseases dermatologic #11050011
ABCD1 300100 Skin-diseases dermatologic #9702690 #10369742 #10426149 #15564782 #16130276
ACADM 201450 Skin-diseases dermatologic #7929823 #15858970
ACADVL 201475 Skin-diseases dermatologic #11158518 #16443431
ACSL6 604443 Skin-diseases dermatologic #16572202
AGXT 259900 Skin-diseases livedo reticularis dermatologic 5572669 6770732 #6829606
ALAS2 301300 Skin-diseases dermatologic #1570328 #7560104 #10577279 #15477213
ALDH18A1 138250 Skin-diseases hyperelasticity of the skin; hyperelasticity; smooth skin; hyperelastic skin; connective tissue disease dermatologic 11092761 15517380
ALDH5A1 271980 Skin-diseases dermatologic #9093300
AMACR 604489 Skin-diseases dermatologic #11861706
ATP7B 277900 Skin-diseases dermatologic #11060541 #12894051 #14639035 #15636319
BCL2 151400 Skin-diseases cutaneous lesions; cutaneous follicular lymphoma; extranodal lymphomas; papule; plaque; tumors; erythema dermatologic 11224600 11557789
CASP8 607271 Skin-diseases dermatologic #12353035
CLN3 204200 Skin-diseases acne dermatologic 12374586
CPOX 121300 Skin-diseases skin fragility; tingling; cutaneous lesions; milia; hyperplasic epidermis; hypergranulosis; hyperkeratosis; irregular acanthosis; hypoderm and derm inflammation with predominant polynuclear cells; urticarial exanthem dermatologic #6886003 #9454777 #9843038 #9888388 11074238 11202054 11309681 11739202 12181641 16159891
CPT2 600649 Skin-diseases dermatologic #1528846
CYBA 233690 Skin-diseases dermatologic #8168815 #10910929
CYBB 306400 Skin-diseases acne vulgaris dermatologic #1974155 11435314 #11566256 #15308575 #16138344
CYP11A1 201710 Skin-diseases dermatologic #11502818 #12161514 #15507506 #16705068
CYP11B1 202010 Skin-diseases dermatologic #8768848 #14682466 #16030166
CYP11B2 124080 Skin-diseases dermatologic #12788848
CYP27A1 213700 Skin-diseases dermatologic #1763899 #2019602 #3344851 #5676919 #7315872 #8514861 #10430841 #10519880 #10775536 #11464194 #12000359 #14572142 #15147532 #16157755 #16278884
DLAT 109720 Skin-diseases itching; dermatosclerosis dermatologic 8900092 #10807520 16177252
DLD 248600 Skin-diseases dermatologic #3769994 #9934985 #10448086 #12925875
DMPK 160900 Skin-diseases dermatologic #1301924 #7811171 #7829609 #8122879 #8421476 #9270517 #9576545 #9863600 #10655320 #11284072 #11874420 #12240714 #14726854 #15770660
ETHE1 602473 Skin-diseases dermatologic #12382164
FECH 177000 Skin-diseases itching; erythema; edema; vesicles; light sensitive dermatitis; light sensitive; burning; burning sensation dermatologic 1251847 #1729699 1755842 #7910885 #8244265 #8500787 #9585598 #10433022 #10832676 10942404 11886534 #16150949 16315313
FH 605839 Skin-diseases erythema; pain; painful cutaneous leiomyomas; painful lesions; cutaneous lesions; clustered lesions; scattered lesions; intradermal papules dermatologic 15724016 15741255
GCDH 231670 Skin-diseases dermatologic #7564239
GDAP1 214400 Skin-diseases cutaneous lesions; ulcer; painless ulcer; lower leg; sensory involvement related dermatologic 12499475
GK 307030 Skin-diseases dermatologic #10851254 #15303806
HADHA 609015 Skin-diseases dermatologic #7738175
HADHA 609016 Skin-diseases dermatologic #11855930
HD 143100 Skin-diseases dermatologic #9443350
HLCS 253270 Skin-diseases skin abnormalities; erythematous skin; cracked skin; loss of skin turgor dermatologic 2515377 #8541348 #8817339 #9686819 #10190325 #11185745 #12124727 #12633764 #12855220 #16134170
HSD3B2 201810 Skin-diseases dermatologic #1363812 #10843183 #11344940 #12050224
MCCC2 210210 Skin-diseases dermatologic #7128647 #9537490
MPV17 256810 Skin-diseases acral mutilations; recurrent skin infections dermatologic 185990 2300261 10518083 16909392
MTRR 236270 Skin-diseases dermatologic #12555939 #12971424 #15714522
MUT 251000 Skin-diseases dermatologic #11350191
OXCT1 245050 Skin-diseases dermatologic #10964512
PCCA 606054 Skin-diseases dermatologic #7957390 #10780784 #15164333
PEO1 271245 Skin-diseases dermatologic #8133312
PPOX 176200 Skin-diseases cutaneous lesions; skin fragility; skin disease; hands; face; upper extremities; lower extremities; skin erosions; skin eruptions dermatologic #2317449 3319294 7586575 #8673113 8852667 9003509 9540990 #9540991 #9738863 #9763307 10457135 10870850 #11286631 #11298551 12357337 12390677 12859407 15327556 #15643299 16433813
PUS1 600462 Skin-diseases dermatologic #7726239 #14981724
RMRP 250250 Skin-diseases dermatologic #7981754 #8444246 #10064668 #11035826 #11207361 #11370774 #12888988 #14284412 #14569125 #14608646
SCO2 604377 Skin-diseases dermatologic #10545952
SDHB 115310 Skin-diseases dermatologic #12213855 #14715873 #15371856 #15473885
SLC19A2 249270 Skin-diseases dermatologic #5767338 #14627317
SLC25A16 275000 Skin-diseases dermatologic #2575220
STAR 201710 Skin-diseases dermatologic #8634702 #9215316 #9829224 #10323391 #10566637 #14764819 #15546900 #15666846 #15985476 #16118340
SUOX 272300 Skin-diseases dermatologic #9600976
SURF1 220110 Skin-diseases dermatologic #14557577 #15214016 #16222681 #16225813
TAT 276600 Skin-diseases keratosis; painful punctate keratoses; digits; palms; soles; genodermatosis; bullae; skin erosions; papules; erythema; tender and painful lesions; tenderness impaired; punctate keratoderma dermatologic 1357662 2456982 9544843 11589874 11924112 12548382 16318910 16574453
TAZ 300183 Skin-diseases dermatologic #9332651
TAZ 302060 Skin-diseases dermatologic #16235007
TP53 202300 Skin-diseases dermatologic #11481490 #11600572
UROS 263700 Skin-diseases cutaneous lesions; cutaneous involvement; cutaneous deformity; painful erosions; skin rash; pseudoscleroderma; ulcers dermatologic 9092747 #9188670 9834209 10583066 #11121156 #11254675 #12060112 12060141 15065102 15304101 16365260

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