Índice de enfermedades genéticas ofrecidas por AC Gen Reading Life

Busca la enfermedad o gen a estudiar
(Recomendable en inglés)

A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z 

Enfermedad/Phenotype	Phenotype MIM number	Simbolo del Gen	Nombre del Gen
Danon disease	300257	LAMP2	lysosomal-associated membrane protein 2
Darier disease	124200	ATP2A2	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
Deafness
Deafness, autosomal dominant 11	601317	MYO7A	myosin VIIA
Deafness, autosomal dominant 13	601868	COL11A2	collagen, type XI, alpha 2
Deafness, autosomal dominant 23	605192	SIX1	SIX homeobox 1
Deafness, autosomal dominant 2A	600101	KCNQ4	potassium voltage-gated channel, KQT-like subfamily, member 4
Deafness, autosomal dominant 2B	612644	GJB3	gap junction protein, beta 3, 31kDa
Deafness, autosomal dominant 3A	601544	GJB2	gap junction protein, beta 2, 26kDa
Deafness, autosomal dominant 3B	612643	GJB6	gap junction protein, beta 6, 30kDa
Deafness, autosomal dominant, with peripheral neuropathy		GJB3	gap junction protein, beta 3, 31kDa
Deafness, autosomal recessive		GJB3	gap junction protein, beta 3, 31kDa
Deafness, autosomal recessive 12	601386	CDH23	cadherin-related 23
Deafness, autosomal recessive 18A	602092	USH1C	Usher syndrome 1C (autosomal recessive, severe)
Deafness, autosomal recessive 1A	220290	GJB2	gap junction protein, beta 2, 26kDa
Deafness, autosomal recessive 1B	612645	GJB6	gap junction protein, beta 6, 30kDa
Deafness, autosomal recessive 2	600060	MYO7A	myosin VIIA
Deafness, autosomal recessive 23	609533	PCDH15	protocadherin-related 15
Deafness, autosomal recessive 4, with enlarged vestibular aqueduct	600791	SLC26A4	solute carrier family 26, member 4
Deafness, autosomal recessive 53	609706	COL11A2	collagen, type XI, alpha 2
Deafness, congenital heart defects, and posterior embryotoxon		JAG1	jagged 1
Deafness, digenic GJB2/GJB6	220290	GJB6	gap junction protein, beta 6, 30kDa
Deafness, digenic, GJB2/GJB3	220290	GJB3	gap junction protein, beta 3, 31kDa
Deep venous thrombosis, protection against	300807	F9	coagulation factor IX
Dejerine-Sottas disease
Dejerine-Sottas disease	145900	PMP22	peripheral myelin protein 22
Dejerine-Sottas disease	145900	MPZ	myelin protein zero
Delta-beta thalassemia	141749	HBB	hemoglobin, beta
Dementia
Dementia, frontotemporal	600274	PSEN1	presenilin 1
Dementia, frontotemporal, with or without parkinsonism	600274	MAPT	microtubule-associated protein tau
Dementia, Lewy body	127750	SNCA	synuclein, alpha (non A4 component of amyloid precursor)
Dent disease 2	300555	OCRL	oculocerebrorenal syndrome of Lowe
Denys-Drash syndrome	194080	WT1	Wilms tumor 1
Dermatopathia pigmentosa reticularis	125595	KRT14	keratin 14
Desmoid disease, hereditary	135290	APC	adenomatous polyposis coli
Diamond-Blackfan
Diamond-Blackfan anemia 1	105650	RPS19	ribosomal protein S19
Diamond-Blackfan anemia 10	613309	RPS26	ribosomal protein S26
Diamond-blackfan anemia 3	610629	RPS24	ribosomal protein S24
Diamond-Blackfan anemia 5	612528	RPL35A	ribosomal protein L35a
Diamond-Blackfan anemia 7	612562	RPL11	ribosomal protein L11
Diamond-Blackfan anemia 8	612563	RPS7	ribosomal protein S7
Diamond-Blackfan anemia 9	613308	RPS10	ribosomal protein S10
Dihydrolipoamide dehydrogenase deficiency	246900	DLD	dihydrolipoamide dehydrogenase
Dilated cardiomyopathy with woolly hair and keratoderma	605676	DSP	desmoplakin
Double Cortex Syndrome		DCX	doublecortin
Dowling-Degos disease	179850	KRT5	keratin 5
Dravet syndrome, modifier of	607208	SCN9A	sodium channel, voltage-gated, type IX, alpha subunit
Du Pan syndrome	228900	GDF5	growth differentiation factor 5
Duane-radial ray syndrome	607323	SALL4	sal-like 4 (Drosophila)
Duchenne muscular dystrophy	310200	DMD	dystrophin
Dysautonomia, familial	223900	IKBKAP	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
Dyskeratosis congenita, X-linked	305000	DKC1	dyskeratosis congenita 1, dyskerin
Dystonia-Parkinsonism, X-linked	314250	TAF1	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
Dystransthyretinemic hyperthyroxinemia	145680	TTR	transthyretin