Gene |
Protein product |
Resulting condition(s)
|
ABCA12 |
|
Harlequin ichthyosis Lamellar ichthyosis
|
ABCB1 |
P glycoprotein |
|
ABCC6 |
|
Pseudoxanthoma elasticum
|
ABCC7 |
CFTR protein |
Cystic fibrosis
|
ACVR1 |
|
Fibrodysplasia ossificans progressiva
|
ACVRL1 (ALK1) |
Activin A |
Hereditary hemorrhagic telangiectasia type 2
|
ADAMT52 |
Procollagen N-peptidase |
Dermatosparaxis variant of Ehlers–Danlos syndrome
|
AGPAT2 |
|
Berardinelli–Seip syndrome
|
AIRE |
|
APECED syndrome
|
APC |
|
Familial polyposis coli Gardner syndrome
|
ATM |
|
Ataxia telangiectasia
|
ATP2A2 |
SERCA2 protein |
Darier disease Acrokeratosis verruciformis of Hopf
|
ATP2C1 |
|
Hailey–Hailey disease
|
ATP7A |
|
Menkes kinky hair syndrome Occipital horn syndrome Cutis laxa
|
ATP7B |
|
Wilson's disease
|
BHD |
|
Birt–Hogg–Dubé syndrome
|
BLOCK153 |
BLOCK153 |
Hermansky–Pudlak syndrome type 8
|
BRAF |
|
Skin melanoma
|
BSCL2 |
|
Berardinelli–Seip syndrome
|
C282Y |
|
Hemochromatosis
|
C7orf11 |
|
Trichothiodystrophy
|
CBS |
Cystathionine synthase |
Homocystinuria
|
CDKN2A |
|
Familial melanoma syndrome
|
CHS1 (LYST) |
|
Chédiak–Higashi syndrome
|
CXCR4 |
|
WHIM syndrome
|
COL1A1 |
Collagen type 1 |
Osteogenesis imperfecta Arthrochalasia type of Ehlers–Danlos syndrome Classic variant of Ehlers–Danlos syndrome
|
COL1A2 |
Collagen type 1 |
Arthrochalasia type of Ehlers–Danlos syndrome Cardiac valvular type of Ehlers–Danlos syndrome
|
COL3A1 |
Collagen type 3 |
Hypermobility variant of Ehlers–Danlos syndrome Vascular variant of Ehlers–Danlos syndrome
|
COL4A5 |
Collagen type 4 |
Alport syndrome
|
COL5A1 |
Collagen type 5 |
Classic variant of Ehlers–Danlos syndrome
|
COL5A2 |
Collagen type 5 |
Classic variant of Ehlers–Danlos syndrome
|
CTNNB1 |
Beta-catenin |
Pilomatricoma
|
CX0RF5 |
|
Orofaciodigital syndrome
|
CYLD |
|
Brooke–Spiegler syndrome Cylindroma
|
DHCR7 |
|
Smith–Lemli–Opitz syndrome
|
DTNBP1 |
Dysbindin |
Hermansky–Pudlak syndrome type 7
|
Dyskerin |
|
Dyskeratosis congenita
|
ECM1 |
Extracellular matrix protein-1 |
Lipoid proteinosis
|
EDA |
|
Hypohidrotic ectodermal dysplasia
|
Elastin |
|
Cutis laxa
|
ENG |
Endoglin |
Hereditary hemorrhagic telangiectasia type 1
|
ERCC6 (CSB) |
|
Cockayne syndrome
|
ERCC8 (CSA) |
|
Cockayne syndrome
|
EVER1 (TMC6) |
|
Epidermodysplasia verruciformis
|
EVER2 (TCM8) |
|
Epidermodysplasia verruciformis
|
FGF23 |
|
Familial tumoral calcinosis
|
FGFR2 |
|
Nevus comedonicus Beare–Stevenson cutis gyrata syndrome
|
FGFR3 |
|
Epidermal nevus
|
Fibulin-1 |
Fibulin-1 |
Marfan syndrome
|
Fibulin-2 |
Fibulin-2 |
Congenital contractural arachnodactyly
|
Fibulin-4 |
Fibulin-4 |
Cutis laxa
|
Fibulin-5 |
Fibulin-5 |
Cutis laxa
|
FOXC2 |
|
Lymphedema–distichiasis syndrome Meige lymphedema
|
GALNT3 |
|
Familial tumoral calcinosis
|
GJB2 |
Connexin 26 |
KID syndrome Vohwinkel syndrome Bart–Pumphrey syndrome
|
GJB3 |
Connexin 31 |
Erythrokeratodermia variabilis
|
GJB4 |
Connexin 30.3 |
Erythrokeratodermia variabilis
|
GJB6 |
Connexin 30 |
Clouston syndrome (Hidrotic ectodermal dysplasia)
|
GNAS1 |
|
Progressive osseous heteroplasia Plate-like osteoma cutis Albright's hereditary osteodystrophy
|
GNAQ |
|
Blue nevus Uveal melanoma Port-wine stain Sturge-weber syndrome
|
GTF2H5 (TFBS) |
|
Trichothiodystrophy
|
GLA |
Alpha-galactosidase |
Fabry disease
|
GLUT-1 |
|
Infantile hemangioma
|
Hairless |
|
Papular atrichia
|
Hamartin |
|
Tuberous sclerosis type 1
|
HFE |
|
Hemochromatosis
|
HPS1 |
HPS1 |
Hermansky–Pudlak syndrome type 1
|
HPS3 |
HPS3 |
Hermansky–Pudlak syndrome type 3
|
HPS4 |
HPS4 |
Hermansky–Pudlak syndrome type 4
|
HPS5 |
Ru2 |
Hermansky–Pudlak syndrome type 5
|
HPS6 |
Ru |
Hermansky–Pudlak syndrome type 6
|
HRAS |
|
Spitz nevus
|
KIND1 |
Kindlin-1 |
Kindler syndrome
|
Klotho |
|
Familial tumoral calcinosis
|
KIT (CD117) |
|
Mastocytosis Mast cell leukemia Mucosal melanoma Piebaldism
|
KRT1 |
|
Epidermolytic hyperkeratosis Ichthyosis hystrix of Curth–Macklin Diffuse nonepidermolytic palmoplantar keratoderma (Unna–Thost keratoderma) Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma)
|
KRT2 |
|
Ichthyosis bullosa of Siemens
|
KRT3 |
|
Meesmann corneal dystrophy
|
KRT4 |
|
White sponge nevus
|
KRT5 |
|
Epidermolysis bullosa simplex Dowling–Degos' disease Olmsted syndrome
|
KRT6A |
|
Pachyonychia congenita type I
|
KRT6B |
|
Pachyonychia congenita type II
|
KRT9 |
|
Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma)
|
KRT10 |
|
Epidermolytic hyperkeratosis Ichthyosis with confetti Ichthyosis hystrix
|
KRT12 |
|
Meesmann corneal dystrophy
|
KRT13 |
|
White sponge nevus
|
KRT14 |
|
Epidermolysis bullosa simplex Naegeli–Franceschetti–Jadassohn syndrome Dermatopathia pigmentosa reticularis Olmsted syndrome
|
KRT16 |
|
Pachyonychia congenita type I
|
KRT17 |
|
Pachyonychia congenita type II Steatocystoma multiplex Vellus hair cyst
|
KRT81 |
|
Monilethrix
|
KRT83 |
|
Monilethrix
|
KRT85 |
|
Pure hair–nail type of ectodermal dysplasia
|
KRT86 |
|
Monilethrix
|
LMNA |
Laminin A/C |
Progeria Köbberling–Dunnigan syndrome
|
LMNB1 |
Laminin B1 |
Cutis laxa
|
LMNB2 |
Laminin B2 |
Barraquer–Simons syndrome
|
LEMD3 |
|
Buschke–Ollendorff syndrome
|
Lewis Y |
|
Infantile hemangioma
|
LMX1B |
|
Nail–patella syndrome
|
MATP |
Membrane-associated transporter protein |
Oculocutaneous albinism type 4
|
MCR1R |
|
Red hair color
|
Menin (MENI) |
|
MEN1A (Wermer syndrome)
|
Merlin |
|
Neurofibromatosis type 1
|
Merosin |
|
Infantile hemangioma
|
MLH1 |
|
Muir–Torre syndrome
|
MLPH |
|
Griscelli syndrome
|
MITF |
|
Waardenburg syndrome type 2
|
MSH2 |
|
Muir–Torre syndrome
|
MSX1 |
|
Witkop syndrome
|
MYO5A |
|
Griscelli syndrome
|
Neurofibromin |
|
Neurofibromatosis type 2
|
NOD2 |
|
Blau syndrome, Early-onset sarcoidosis
|
NOTCH3 |
|
CADASIL syndrome
|
NSDHL |
3-beta-hydroxysteroid dehydrogenase |
CHILD syndrome
|
OCA2 (P) |
P protein |
Oculocutaneous albinism type 2
|
p53 |
|
Li–Fraumeni syndrome Actinic keratosis Squamous cell carcinoma
|
p57 |
|
Beckwith–Wiedemann syndrome
|
p63 |
|
Hay–Wells syndrome (AEC syndrome) EEC syndrome Rapp–Hodgkin syndrome
|
PAX3 |
|
Waardenburg syndrome type 1 Waardenburg syndrome type 3
|
PLEC |
Plectin |
Epidermolysis bullosa simplex with muscular dystrophy
|
PLOD |
Lysyl hydroxylase |
Kyphoscoliosis variant of Ehlers–Danlos syndrome
|
PPARG |
|
Köbberling–Dunnigan syndrome
|
PRKAR1 |
Protein kinase A |
Carney complex
|
PSTPIP1 |
CD2 binding protein 1 |
PAPA syndrome
|
PTCH |
Patched |
Nevoid basal cell carcinoma syndrome Sporadic basal cell carcinoma
|
PTEN |
|
Bannayan–Riley–Ruvalcaba syndrome Cowden syndrome
|
PTPN11 |
|
LEOPARD syndrome
|
RAB27A |
|
Griscelli syndrome
|
RAG1 |
|
Severe combined immunodeficiency
|
RAG2 |
|
Severe combined immunodeficiency
|
RecQL2 (WRN) |
DNA helicase |
Werner syndrome
|
RecQL3 (BLM) |
DNA helicase |
Bloom syndrome
|
RecQL4 |
DNA helicase |
Rothmund–Thomson syndrome
|
RET |
|
MEN2A, MEN2B
|
SAMD9 |
|
Familial tumoral calcinosis
|
SERPINA1 |
Alpha 1-antitrypsin |
Alpha-1 antitrypsin deficiency panniculitis
|
SLC39A4 |
|
Acrodermatitis enteropathica
|
SOX10 |
|
Waardenburg syndrome type 4
|
SOX18 |
|
Hypotrichosis–lymphedema–telangiectasia syndrome
|
SPREAD1 |
|
Neurofibromatosis type 1-like syndrome
|
STK11 |
|
Peutz–Jeghers syndrome
|
TERC |
|
Dyskeratosis congenita
|
TGM1 |
Transglutaminase 1 |
Lamellar ichthyosis Nonbullous congenital ichthyosiform erythroderma
|
TGM5 |
Transglutaminase 5 |
Acral peeling skin syndrome
|
TNXB |
Tenascin X |
Classic variant of Ehlers–Danlos syndrome Hypermobility variant of Ehlers–Danlos syndrome
|
Tuberin |
|
Tuberous sclerosis type 2
|
TYR |
Tyrosine |
Oculocutaneous albinism type 1a Oculocutaneous albinism type 1b
|
TYRP1 |
Tyrosine-related protein 1 |
Oculocutaneous albinism type 3
|
FLT4 |
VEGFR-3 |
Milroy disease
|
VHL |
|
Von Hippel–Lindau disease
|
XPA |
|
Xeroderma pigmentosa
|
XPB |
DNA helicase |
Xeroderma pigmentosa Trichothiodystrophy Xeroderma pigmentosum–Cockayne syndrome
|
XPC |
|
Xeroderma pigmentosa
|
XPD |
DNA helicase |
Xeroderma pigmentosa Trichothiodystrophy Xeroderma pigmentosum–Cockayne syndrome
|
XPE |
|
Xeroderma pigmentosa
|
XPF |
DNA endonuclease |
Xeroderma pigmentosa
|
XPG |
DNA endonuclease |
Xeroderma pigmentosa Xeroderma pigmentosum–Cockayne syndrome
|
ZMPSTE24 |
|
Köbberling–Dunnigan syndrome Restrictive dermopathy
|