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
Caffey disease	114000	COL1A1	collagen, type I, alpha 1
Campomelic dysplasia	114290	SOX9	SRY (sex determining region Y)-box 9
Campomelic dysplasia with autosomal sex reversal	114290	SOX9	SRY (sex determining region Y)-box 9
Canavan disease	271900	ASPA	aspartoacylase
Carcinoid tumor of lung		MEN1	multiple endocrine neoplasia I
Cardiac arrhythmia, ankyrin-B-related	600919	ANK2	ankyrin 2, neuronal
Cardiac conduction defect, nonspecific	612838	SCN1B	sodium channel, voltage-gated, type I, beta subunit
Cardiofaciocutaneous syndrome	115150	KRAS	v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog
Cardiomyopathy (Dilated)		STARD3	StAR-related lipid transfer (START) domain containing 3
Cardiomyopathy, dilated	115200	MYBPC3	myosin binding protein C, cardiac
Cardiomyopathy, dilated 1C	601493	LDB3	LIM domain binding 3
Cardiomyopathy, dilated, 1A	115200	LMNA	lamin A/C
Cardiomyopathy, dilated, 1AA	612158	ACTN2	actinin, alpha 2
Cardiomyopathy, dilated, 1BB	612877	DSG2	desmoglein 2
Cardiomyopathy, dilated, 1D	601494	TNNT2	troponin T type 2 (cardiac)
Cardiomyopathy, dilated, 1E	601154	SCN5A	sodium channel, voltage-gated, type V, alpha subunit
Cardiomyopathy, dilated, 1EE	613252	MYH6	myosin, heavy chain 6, cardiac muscle, alpha
Cardiomyopathy, dilated, 1FF	613286	TNNI3	troponin I type 3 (cardiac)
Cardiomyopathy, dilated, 1HH	613881	BAG3	BCL2-associated athanogene 3
Cardiomyopathy, dilated, 1I	604765	DES	desmin
Cardiomyopathy, dilated, 1L	606685	SGCD	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
Cardiomyopathy, dilated, 1O	608569	ABCC9	ATP-binding cassette, sub-family C (CFTR/MRP), member 9
Cardiomyopathy, dilated, 1P	609909	PLN	phospholamban
Cardiomyopathy, dilated, 1R	613424	ACTC1	actin, alpha, cardiac muscle 1
Cardiomyopathy, dilated, 1S	613426	MYH7	myosin, heavy chain 7, cardiac muscle, beta
Cardiomyopathy, dilated, 1U	613694	PSEN1	presenilin 1
Cardiomyopathy, dilated, 1V	613697	PSEN2	presenilin 2 (Alzheimer disease 4)
Cardiomyopathy, dilated, 1W	611407	VCL	vinculin
Cardiomyopathy, dilated, 1Y	611878	TPM1	tropomyosin 1 (alpha)
Cardiomyopathy, dilated, 1Z	611879	TNNC1	troponin C type 1 (slow)
Cardiomyopathy, dilated, 2A	611880	TNNI3	troponin I type 3 (cardiac)
Cardiomyopathy, dilated, 3B	302045	DMD	dystrophin
Cardiomyopathy, familial
Cardiomyopathy, familial hypertrophic	192600	CAV3	caveolin 3
Cardiomyopathy, familial hypertrophic	192600	SLC25A4	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
Cardiomyopathy, familial hypertrophic 6	600858	PRKAG2	protein kinase, AMP-activated, gamma 2 non-catalytic subunit
Cardiomyopathy, familial hypertrophic, 1	192600	MYH7	myosin, heavy chain 7, cardiac muscle, beta
Cardiomyopathy, familial hypertrophic, 10	608758	MYL2	myosin, light chain 2, regulatory, cardiac, slow
Cardiomyopathy, familial hypertrophic, 11	612098	ACTC1	actin, alpha, cardiac muscle 1
Cardiomyopathy, familial hypertrophic, 13	613243	TNNC1	troponin C type 1 (slow)
Cardiomyopathy, familial hypertrophic, 14	613251	MYH6	myosin, heavy chain 6, cardiac muscle, alpha
Cardiomyopathy, familial hypertrophic, 15	613255	VCL	vinculin
Cardiomyopathy, familial hypertrophic, 16	613838	MYOZ2	myozenin 2
Cardiomyopathy, familial hypertrophic, 18	613874	PLN	phospholamban
Cardiomyopathy, familial hypertrophic, 19	613875	CALR3	calreticulin 3
Cardiomyopathy, familial hypertrophic, 2	115195	TNNT2	troponin T type 2 (cardiac)
Cardiomyopathy, familial hypertrophic, 3	115196	TPM1	tropomyosin 1 (alpha)
Cardiomyopathy, familial hypertrophic, 4	115197	MYBPC3	myosin binding protein C, cardiac
Cardiomyopathy, familial hypertrophic, 7	613690	TNNI3	troponin I type 3 (cardiac)
Cardiomyopathy, familial hypertrophic, 8	608751	MYL3	myosin, light chain 3, alkali; ventricular, skeletal, slow
Cardiomyopathy, familial restrictive	115210	TNNI3	troponin I type 3 (cardiac)
Cardiomyopathy, familial restrictive, 3	612422	TNNT2	troponin T type 2 (cardiac)
Carpal tunnel syndrome, familial	115430	TTR	transthyretin
Cataract with late-onset corneal dystrophy	106210	PAX6	paired box 6
CATSHL syndrome	610474	FGFR3	fibroblast growth factor receptor 3
Central core disease	117000	RYR1	ryanodine receptor 1 (skeletal)
Central hypoventilation syndrome, congenital	209880	RET	ret proto-oncogene
Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants	605714	APP	amyloid beta (A4) precursor protein
Ceroid lipofuscinosis, neuronal, 1	256730	PPT1	palmitoyl-protein thioesterase 1
Charcot-Marie-Tooth
Charcot-Marie-Tooth disease, axonal, type 2M	606482	DNM2	dynamin 2
Charcot-Marie-Tooth disease, dominant intermediate B	606482	DNM2	dynamin 2
Charcot-Marie-Tooth disease, dominant intermediate D	607791	MPZ	myelin protein zero
Charcot-Marie-Tooth disease, type 1A	118220	PMP22	peripheral myelin protein 22
Charcot-Marie-Tooth disease, type 1B	118200	MPZ	myelin protein zero
Charcot-Marie-Tooth disease, type 1E	118300	PMP22	peripheral myelin protein 22
Charcot-Marie-Tooth disease, type 2A2	609260	MFN2	mitofusin 2
Charcot-Marie-Tooth disease, type 2B1	605588	LMNA	lamin A/C
Charcot-Marie-Tooth disease, type 2I	607677	MPZ	myelin protein zero
Charcot-Marie-Tooth disease, type 2J	607736	MPZ	myelin protein zero
CHARGE syndrome	214800	CHD7	chromodomain helicase DNA binding protein 7
Cherubism	118400	SH3BP2	SH3-domain binding protein 2
Chondrodysplasia, Grebe type	200700	GDF5	growth differentiation factor 5
Chondrosarcoma	215300	EXT1	exostosin glycosyltransferase 1
Choriodal dystrophy, central areolar 2	613105	PRPH2	peripherin 2 (retinal degeneration, slow)
Choroid plexus papilloma	260500	TP53	tumor protein p53
Choroideremia	303100	CHM	choroideremia (Rab escort protein 1)
Ciliary dyskinesia
Ciliary dyskinesia, primary, 1, with or without situs inversus	244400	DNAI1	dynein, axonemal, intermediate chain 1
Ciliary dyskinesia, primary, 11	612649	RSPH4A	radial spoke head 4 homolog A (Chlamydomonas)
Ciliary dyskinesia, primary, 12	612650	RSPH9	radial spoke head 9 homolog (Chlamydomonas)
Ciliary dyskinesia, primary, 14	613807	CCDC39	coiled-coil domain containing 39
Ciliary dyskinesia, primary, 15	613808	CCDC40	coiled-coil domain containing 40
Ciliary dyskinesia, primary, 3, with or without situs inversus	608644	DNAH5	dynein, axonemal, heavy chain 5
Ciliary dyskinesia, primary, 6	610852	TXNDC3	NME/NM23 family member 8
Ciliary dyskinesia, primary, 7, with or without situs inversus	611884	DNAH11	dynein, axonemal, heavy chain 11
Ciliary dyskinesia, primary, 9, with or without situs inversus	612444	DNAI2	dynein, axonemal, intermediate chain 2
Ciliary Primary  Dyskinesia		DNAH9	dynein, axonemal, heavy chain 9
Citrullinemia, adult-onset type II	603471	SLC25A13	solute carrier family 25 (aspartate/glutamate carrier), member 13
Citrullinemia, type II, neonatal-onset	605814	SLC25A13	solute carrier family 25 (aspartate/glutamate carrier), member 13
Coffin-Lowry syndrome	303600	RPS6KA3	ribosomal protein S6 kinase, 90kDa, polypeptide 3
Coloboma of optic nerve	120430	PAX6	paired box 6
Coloboma, ocular	120200	PAX6	paired box 6
Colorectal cancer	114500	TP53	tumor protein p53
Colorectal cancer, hereditary nonpolyposis, type 1	120435	MSH2	mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
Colorectal cancer, hereditary nonpolyposis, type 2	609310	MLH1	mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
Colorectal cancer, hereditary nonpolyposis, type 6	614331	TGFBR2	transforming growth factor, beta receptor II (70/80kDa)
Combined cellular and humoral immune defects with granulomas	233650	RAG1	recombination activating gene 1
Combined cellular and humoral immune defects with granulomas	233650	RAG2	recombination activating gene 2
Combined immunodeficiency, X-linked, moderate	312863	IL2RG	interleukin 2 receptor, gamma
Complement component 4, partial deficiency of	120790	SERPING1	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1
Cone-rod dystrophy
Cone-rod dystrophy	604393	AIPL1	aryl hydrocarbon receptor interacting protein-like 1
Cone-rod dystrophy 10	610283	SEMA4A	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A
Cone-rod dystrophy 12	612657	PROM1	prominin 1
Cone-rod dystrophy 13	608194	RPGRIP1	retinitis pigmentosa GTPase regulator interacting protein 1
Cone-rod dystrophy 3	604116	ABCA4	ATP-binding cassette, sub-family A (ABC1), member 4
Cone-rod dystrophy 6	601777	GUCY2D	guanylate cyclase 2D, membrane (retina-specific)
Cone-rod dystrophy, X-linked, 1	304020	RPGR	retinitis pigmentosa GTPase regulator
Cone-rod retinal dystrophy-2	120970	CRX	cone-rod homeobox
Congenital bilateral absence of vas deferens	277180	CFTR	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Congenital cataracts, facial dysmorphism, and neuropathy	604168	CTDP1	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
Congenital disorder of glycosylation, type Ia	212065	PMM2	phosphomannomutase 2
Conotruncal heart malformations, variable	217095	NKX2-5	NK2 homeobox 5
Cornelia de Lange syndrome 1	122470	NIPBL	Nipped-B homolog (Drosophila)
Corpus callosum, partial agenesis of	304100	L1CAM	L1 cell adhesion molecule
Craniofacial-deafness-hand syndrome	122880	PAX3	paired box 3
Craniosynostosis, type 1	123100	TWIST1	twist basic helix-loop-helix transcription factor 1
CRASH syndrome	303350	L1CAM	L1 cell adhesion molecule
Creatine phosphokinase, elevated serum	123320	CAV3	caveolin 3
Crouzon syndrome with acanthosis nigricans	612247	FGFR3	fibroblast growth factor receptor 3
Cutis laxa, AD	123700	ELN	elastin
Cystic fibrosis	219700	CFTR	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
Cystinosis, atypical nephropathic	219800	CTNS	cystinosin, lysosomal cystine transporter
Cystinosis, late-onset juvenile or adolescent nephropathic	219900	CTNS	cystinosin, lysosomal cystine transporter
Cystinosis, nephropathic	219800	CTNS	cystinosin, lysosomal cystine transporter
Cystinosis, ocular nonnephropathic	219750	CTNS	cystinosin, lysosomal cystine transporter
Czech dysplasia	609162	COL2A1	collagen, type II, alpha 1