OMIM Diseases

Search by Disease ontology

Total number of Protein for Diseases: 0

Identifier	UniProt Accession	Name	Gene Uniprot	Chromosome	Disease	Disordered Mutations	Ordered Mutations	Total Mutations	Mutation Disordered Percent	DO level 1	DO level 2	DO level 3	DO level 4	DO level 5	DO level 6	DO level 7	DO level 8	DO level 9	DO level 10	DO level 11	DOID	DO Slim	Annotations	Elm	ptm	binding	dibs	phasepro	mfib	GO	PPI

COL4A5_ENST00000361603	P29400	Collagen alpha-5(IV) chain	COL4A5	chrX	x-linked alport syndrome	132	12	144	91.67	disease	syndrome	Alport syndrome	-	-	-	-	-	-	-	-	DOID:0110034	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
COL3A1	P02461	Collagen alpha-1(III) chain	COL3A1	chr2	vascular type ehlers-danlos syndrome	101	2	103	98.06	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	collagen disease	Ehlers-Danlos syndrome	-	-	-	-	-	DOID:14756	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
COL1A1	P02452	Collagen alpha-1(I) chain	COL1A1	chr17	osteogenesis imperfecta type 2	78	3	81	96.3	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	bone disease	bone development disease	osteochondrodysplasia	osteogenesis imperfecta	-	-	-	DOID:0110341	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
LMNA	P02545	Prelamin-A/C	LMNA	chr1	autosomal dominant emery-dreifuss muscular dystrophy 2	50	11	61	81.97	disease	disease of anatomical entity	musculoskeletal system disease	muscular disease	muscle tissue disease	myopathy	muscular dystrophy	Emery-Dreifuss muscular dystrophy	-	-	-	DOID:0070247	DO_rare_slim	ptm	-	Methylation; Phosphorylation	-	-	-	-	goterms	PPI
MYH7	P12883	Myosin-7	MYH7	chr14	hypertrophic cardiomyopathy 1	50	120	170	29.41	disease	disease of anatomical entity	cardiovascular system disease	heart disease	cardiomyopathy	intrinsic cardiomyopathy	hypertrophic cardiomyopathy	familial hypertrophic cardiomyopathy	-	-	-	DOID:0110307	-	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
TP53_ENST00000445888	P04637	Cellular tumor antigen p53	TP53	chr17	li-fraumeni syndrome 1	46	37	83	55.42	disease	syndrome	Li-Fraumeni syndrome	-	-	-	-	-	-	-	-	DOID:0111503	-	Elm; ptm; dibs; mfib	ELMI001995\|DOC; ELMI001394\|TRG; ELMI000923\|TRG	Ubiquitination; Methylation; Phosphorylation	-	DI1000009	-	MF4100003	goterms	PPI
COL1A2	P08123	Collagen alpha-2(I) chain	COL1A2	chr7	osteogenesis imperfecta type 2	42	0	42	100	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	bone disease	bone development disease	osteochondrodysplasia	osteogenesis imperfecta	-	-	-	DOID:0110341	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
ALPL	P05186	Alkaline phosphatase, tissue-nonspecific isozyme	ALPL	chr1	adult hypophosphatasia	40	60	100	40	disease	syndrome	hypophosphatasia	-	-	-	-	-	-	-	-	DOID:0110913	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
COL7A1	Q02388	Collagen alpha-1(VII) chain	COL7A1	chr3	recessive dystrophic epidermolysis bullosa	39	0	39	100	disease	disease of anatomical entity	integumentary system disease	skin disease	dermatitis	bullous skin disease	vesiculobullous skin disease	epidermolysis bullosa	epidermolysis bullosa dystrophica	-	-	DOID:0060642	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
SOD1	P00441	Superoxide dismutase [Cu-Zn]	SOD1	chr21	amyotrophic lateral sclerosis type 1	39	40	79	49.37	disease	disease of anatomical entity	nervous system disease	central nervous system disease	neurodegenerative disease	motor neuron disease	amyotrophic lateral sclerosis	-	-	-	-	DOID:0060193	DO_rare_slim	ptm; mfib	-	Phosphorylation	-	-	-	MF2100014	goterms	PPI
MECP2_ENST00000303391	P51608	Methyl-CpG-binding protein 2	MECP2	chrX	rett syndrome	37	2	39	94.87	disease	disease of mental health	developmental disorder of mental health	pervasive developmental disorder	-	-	-	-	-	-	-	DOID:1206	DO_rare_slim\| NCIthesaurus	ptm	-	Acetylation; Phosphorylation	-	-	-	-	goterms	PPI
GALT	P07902	Galactose-1-phosphate uridylyltransferase	GALT	chr9	classic galactosemia	33	101	134	24.63	disease	disease of metabolism	inherited metabolic disorder	carbohydrate metabolic disorder	galactosemia	-	-	-	-	-	-	DOID:0111459	DO_rare_slim	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
F8	P00451	Coagulation factor VIII	F8	chrX	factor viii deficiency	32	440	472	6.78	disease	disease of anatomical entity	hematopoietic system disease	blood coagulation disease	-	-	-	-	-	-	-	DOID:12134	DO_rare_slim\| NCIthesaurus	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
HNF1A_ENST00000257555	P20823	Hepatocyte nuclear factor 1-alpha	HNF1A	chr12	maturity-onset diabetes of the young type 3	29	8	37	78.38	disease	disease of metabolism	inherited metabolic disorder	carbohydrate metabolic disorder	glucose metabolism disease	diabetes mellitus	maturity-onset diabetes of the young	-	-	-	-	DOID:0111102	-	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
COL7A1	Q02388	Collagen alpha-1(VII) chain	COL7A1	chr3	autosomal dominant dystrophic epidermolysis bullosa	28	0	28	100	disease	disease of anatomical entity	integumentary system disease	skin disease	dermatitis	bullous skin disease	vesiculobullous skin disease	epidermolysis bullosa	epidermolysis bullosa dystrophica	-	-	DOID:0080224	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
COL1A1	P02452	Collagen alpha-1(I) chain	COL1A1	chr17	osteogenesis imperfecta type 1	26	0	26	100	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	bone disease	bone development disease	osteochondrodysplasia	osteogenesis imperfecta	-	-	-	DOID:0110334	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
GFAP_ENST00000588735	P14136	Glial fibrillary acidic protein	GFAP	chr17	alexander disease	26	36	62	41.94	disease	disease of anatomical entity	nervous system disease	central nervous system disease	brain disease	cerebral degeneration	leukodystrophy	-	-	-	-	DOID:4252	DO_FlyBase_slim\| DO_rare_slim\| NCIthesaurus	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
TTR	P02766	Transthyretin	TTR	chr18	transthyretin amyloidosis	26	47	73	35.62	disease	disease of metabolism	amyloidosis	-	-	-	-	-	-	-	-	DOID:0050638	DO_FlyBase_slim\| DO_rare_slim	ptm; mfib	-	Phosphorylation	-	-	-	MF4100001	goterms	PPI
CBS_ENST00000359624	P35520	Cystathionine beta-synthase	CBS	chr21	homocystinuria	25	78	103	24.27	disease	disease of metabolism	inherited metabolic disorder	amino acid metabolic disorder	-	-	-	-	-	-	-	DOID:9263	DO_rare_slim\| NCIthesaurus	ptm	-	Ubiquitination; Phosphorylation	-	-	-	-	goterms	PPI
NKX2-5	P52952	Homeobox protein Nkx-2.5	NKX2-5	chr5	atrial heart septal defect 7	25	21	46	54.35	disease	disease of anatomical entity	cardiovascular system disease	heart disease	congenital heart disease	heart septal defect	atrial heart septal defect	-	-	-	-	DOID:0110112	DO_rare_slim	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
RUNX2_ENST00000647337	Q13950	Runt-related transcription factor 2	RUNX2	chr6	cleidocranial dysplasia	25	22	47	53.19	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	bone disease	bone development disease	osteochondrodysplasia	-	-	-	-	DOID:13994	DO_rare_slim\| NCIthesaurus	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
LMNA	P02545	Prelamin-A/C	LMNA	chr1	dilated cardiomyopathy 1a	24	3	27	88.89	disease	disease of anatomical entity	cardiovascular system disease	heart disease	cardiomyopathy	intrinsic cardiomyopathy	dilated cardiomyopathy	-	-	-	-	DOID:0110425	DO_rare_slim	ptm	-	Ubiquitination; Methylation; Phosphorylation	-	-	-	-	goterms	PPI
COMP	P49747	Cartilage oligomeric matrix protein	COMP	chr19	multiple epiphyseal dysplasia 1	23	6	29	79.31	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	bone disease	bone development disease	osteochondrodysplasia	multiple epiphyseal dysplasia	-	-	-	DOID:0070303	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
EDA	Q92838	Ectodysplasin-A	EDA	chrX	ectodermal dysplasia 1	23	40	63	36.51	disease	syndrome	ectodermal dysplasia	hypohidrotic ectodermal dysplasia	-	-	-	-	-	-	-	DOID:0111664	DO_rare_slim	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
COL2A1	P02458	Collagen alpha-1(II) chain	COL2A1	chr12	achondrogenesis type ii	22	0	22	100	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	bone disease	bone development disease	osteochondrodysplasia	achondrogenesis	-	-	-	DOID:0080056	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
TARDBP	Q13148	TAR DNA-binding protein 43	TARDBP	chr1	amyotrophic lateral sclerosis type 10	22	5	27	81.48	disease	disease of anatomical entity	nervous system disease	central nervous system disease	neurodegenerative disease	motor neuron disease	amyotrophic lateral sclerosis	-	-	-	-	DOID:0060201	DO_rare_slim	ptm; phasepro	-	Phosphorylation	-	-	29555476.0	-	goterms	PPI
COL1A2	P08123	Collagen alpha-2(I) chain	COL1A2	chr7	osteogenesis imperfecta type 3	21	0	21	100	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	bone disease	bone development disease	osteochondrodysplasia	osteogenesis imperfecta	-	-	-	DOID:0110339	DO_rare_slim	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
COMP	P49747	Cartilage oligomeric matrix protein	COMP	chr19	pseudoachondroplasia	21	9	30	70	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	bone disease	bone development disease	osteochondrodysplasia	-	-	-	-	DOID:0080047	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
ABCA4	P78363	Retinal-specific phospholipid-transporting ATPase ABCA4	ABCA4	chr1	stargardt disease	20	179	199	10.05	disease	disease of anatomical entity	nervous system disease	sensory system disease	eye disease	eye degenerative disease	retinal degeneration	macular degeneration	degeneration of macula and posterior pole	age related macular degeneration	-	DOID:0050817	DO_rare_slim	Elm; ptm	ELMI000561\|MOD; ELMI000563\|MOD; ELMI000566\|MOD	Phosphorylation	-	-	-	-	goterms	PPI
DES	P17661	Desmin	DES	chr2	myofibrillar myopathy 1	20	11	31	64.52	disease	disease of anatomical entity	musculoskeletal system disease	muscular disease	muscle tissue disease	myopathy	myofibrillar myopathy	-	-	-	-	DOID:0080092	DO_FlyBase_slim\| DO_rare_slim	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
BRCA2_ENST00000544455	P51587	Breast cancer type 2 susceptibility protein	BRCA2	chr13	breast cancer	19	24	43	44.19	disease	disease of cellular proliferation	cancer	organ system cancer	thoracic cancer	-	-	-	-	-	-	DOID:1612	DO_cancer_slim\| DO_CFDE_slim\| DO_RAD_slim\| NCIthesaurus\| TopNodes_DOcancerslim	Elm; ptm; dibs	ELMI002975\|LIG	Ubiquitination; Phosphorylation	-	DI1000254	-	-	goterms	PPI
COL1A1	P02452	Collagen alpha-1(I) chain	COL1A1	chr17	osteogenesis imperfecta type 3	19	1	20	95	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	bone disease	bone development disease	osteochondrodysplasia	osteogenesis imperfecta	-	-	-	DOID:0110339	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
COL1A1	P02452	Collagen alpha-1(I) chain	COL1A1	chr17	osteogenesis imperfecta type 4	19	0	19	100	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	bone disease	bone development disease	osteochondrodysplasia	osteogenesis imperfecta	-	-	-	DOID:0110340	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
SIX3	O95343	Homeobox protein SIX3	SIX3	chr2	holoprosencephaly 2	19	12	31	61.29	disease	physical disorder	congenital nervous system abnormality	holoprosencephaly	-	-	-	-	-	-	-	DOID:0110872	-	-	-	-	-	-	-	-	goterms	PPI
VHL	P40337	von Hippel-Lindau disease tumor suppressor	VHL	chr3	von hippel-lindau disease	19	85	104	18.27	disease	disease of cellular proliferation	benign neoplasm	organ system benign neoplasm	cardiovascular organ benign neoplasm	hemangioma	hemangioblastoma	-	-	-	-	DOID:14175	DO_FlyBase_slim\| DO_rare_slim\| NCIthesaurus	ptm	-	Ubiquitination; Methylation; Phosphorylation	-	-	-	-	goterms	PPI
FUS	P35637	RNA-binding protein FUS	FUS	chr16	amyotrophic lateral sclerosis type 6	18	0	18	100	disease	disease of anatomical entity	nervous system disease	central nervous system disease	neurodegenerative disease	motor neuron disease	amyotrophic lateral sclerosis	-	-	-	-	DOID:0060198	DO_rare_slim	ptm; phasepro	-	Methylation	-	-	29961577.0	-	goterms	PPI
MYBPC3	Q14896	Myosin-binding protein C, cardiac-type	MYBPC3	chr11	hypertrophic cardiomyopathy 4	18	41	59	30.51	disease	disease of anatomical entity	cardiovascular system disease	heart disease	cardiomyopathy	intrinsic cardiomyopathy	hypertrophic cardiomyopathy	familial hypertrophic cardiomyopathy	-	-	-	DOID:0110310	-	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
F9	P00740	Coagulation factor IX	F9	chrX	hemophilia b	17	121	138	12.32	disease	disease of anatomical entity	hematopoietic system disease	blood coagulation disease	-	-	-	-	-	-	-	DOID:12259	DO_rare_slim\| NCIthesaurus	Elm; ptm	ELMI000223\|MOD; ELMI002734\|MOD	Phosphorylation	-	-	-	-	goterms	PPI
SHH	Q15465	Sonic hedgehog protein	SHH	chr7	holoprosencephaly 3	17	62	79	21.52	disease	physical disorder	congenital nervous system abnormality	holoprosencephaly	-	-	-	-	-	-	-	DOID:0110875	-	-	-	-	-	-	-	-	goterms	PPI
SOX9	P48436	Transcription factor SOX-9	SOX9	chr17	campomelic dysplasia	17	1	18	94.44	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	bone disease	bone development disease	osteochondrodysplasia	-	-	-	-	DOID:0050463	DO_rare_slim\| NCIthesaurus	ptm	-	Ubiquitination	-	-	-	-	goterms	PPI
TNNT2	P45379	Troponin T, cardiac muscle	TNNT2	chr1	hypertrophic cardiomyopathy 2	17	1	18	94.44	disease	disease of anatomical entity	cardiovascular system disease	heart disease	cardiomyopathy	intrinsic cardiomyopathy	hypertrophic cardiomyopathy	familial hypertrophic cardiomyopathy	-	-	-	DOID:0110308	-	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
MEFV	O15553	Pyrin	MEFV	chr16	familial mediterranean fever	16	25	41	39.02	disease	disease of anatomical entity	immune system disease	autoimmune disease	-	-	-	-	-	-	-	DOID:2987	DO_rare_slim\| NCIthesaurus	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
MMUT	P22033	Methylmalonyl-CoA mutase, mitochondrial	MMUT	chr6	methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	16	109	125	12.8	disease	disease of metabolism	inherited metabolic disorder	amino acid metabolic disorder	organic acidemia	methylmalonic acidemia	-	-	-	-	-	DOID:0060740	DO_rare_slim	ptm	-	Acetylation; Phosphorylation	-	-	-	-	goterms	PPI
PAX6_ENST00000241001	P26367	Paired box protein Pax-6	PAX6	chr11	aniridia	16	12	28	57.14	disease	disease of anatomical entity	nervous system disease	sensory system disease	eye disease	uveal disease	iris disease	-	-	-	-	DOID:12271	DO_rare_slim\| NCIthesaurus	-	-	-	-	-	-	-	goterms	PPI
RYR1	P21817	Ryanodine receptor 1	RYR1	chr19	king denborough syndrome	16	77	93	17.2	disease	disease of anatomical entity	musculoskeletal system disease	muscular disease	muscle tissue disease	myopathy	-	-	-	-	-	DOID:0080990	DO_rare_slim	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
SQSTM1	Q13501	Sequestosome-1	SQSTM1	chr5	frontotemporal dementia and/or amyotrophic lateral sclerosis-3	16	7	23	69.57	disease	disease of anatomical entity	nervous system disease	central nervous system disease	neurodegenerative disease	motor neuron disease	amyotrophic lateral sclerosis	-	-	-	-	DOID:0110068	-	Elm; ptm; phasepro	ELMI002823\|DEG	Phosphorylation	-	-	29507397.0	-	goterms	PPI
FGFR1_ENST00000447712	P11362	Fibroblast growth factor receptor 1	FGFR1	chr8	hypogonadotropic hypogonadism 2 with or without anosmia	15	44	59	25.42	disease	disease of anatomical entity	endocrine system disease	gonadal disease	hypogonadism	hypogonadotropic hypogonadism	-	-	-	-	-	DOID:0090083	-	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
HGD	Q93099	Homogentisate 1,2-dioxygenase	HGD	chr3	alkaptonuria	15	53	68	22.06	disease	disease of metabolism	inherited metabolic disorder	amino acid metabolic disorder	-	-	-	-	-	-	-	DOID:9270	DO_rare_slim\| NCIthesaurus	-	-	-	-	-	-	-	goterms	PPI
SCN5A_ENST00000333535	Q14524	Sodium channel protein type 5 subunit alpha	SCN5A	chr3	long qt syndrome 3	15	58	73	20.55	disease	disease of anatomical entity	cardiovascular system disease	heart disease	cardiomyopathy	intrinsic cardiomyopathy	long QT syndrome	-	-	-	-	DOID:0110646	DO_rare_slim	Elm; ptm	ELMI001875\|LIG	Methylation	-	-	-	-	goterms	PPI
ARSA	P15289	Arylsulfatase A	ARSA	chr22	metachromatic leukodystrophy	14	83	97	14.43	disease	disease of metabolism	inherited metabolic disorder	lysosomal storage disease	lipid storage disease	sphingolipidosis	-	-	-	-	-	DOID:10581	DO_rare_slim\| NCIthesaurus	-	-	-	-	-	-	-	goterms	PPI
BRCA1_ENST00000357654	P38398	Breast cancer type 1 susceptibility protein	BRCA1	chr17	breast cancer	14	10	24	58.33	disease	disease of cellular proliferation	cancer	organ system cancer	thoracic cancer	-	-	-	-	-	-	DOID:1612	DO_cancer_slim\| DO_CFDE_slim\| DO_RAD_slim\| NCIthesaurus\| TopNodes_DOcancerslim	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
PCDH19	Q8TAB3	Protocadherin-19	PCDH19	chrX	developmental and epileptic encephalopathy 9	14	21	35	40	disease	disease of anatomical entity	nervous system disease	central nervous system disease	brain disease	epilepsy	electroclinical syndrome	developmental and epileptic encephalopathy	-	-	-	DOID:0060848	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
PKD1	P98161	Polycystin-1	PKD1	chr16	polycystic kidney disease 1	14	78	92	15.22	disease	disease of anatomical entity	urinary system disease	kidney disease	cystic kidney disease	polycystic kidney disease	autosomal dominant polycystic kidney disease	-	-	-	-	DOID:0110858	-	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
FOXC1_ENST00000645831	Q12948	Forkhead box protein C1	FOXC1	chr6	axenfeld-rieger syndrome type 3	13	10	23	56.52	disease	disease of anatomical entity	nervous system disease	sensory system disease	eye disease	Axenfeld-Rieger syndrome	-	-	-	-	-	DOID:0110122	-	-	-	-	-	-	-	-	goterms	PPI
LMNA	P02545	Prelamin-A/C	LMNA	chr1	familial partial lipodystrophy type 2	13	3	16	81.25	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	lipodystrophy	partial lipodystrophy	familial partial lipodystrophy	-	-	-	-	DOID:0070202	DO_rare_slim	ptm	-	Ubiquitination; Acetylation; Phosphorylation	-	-	-	-	goterms	PPI
PAX3_ENST00000350526	P23760	Paired box protein Pax-3	PAX3	chr2	waardenburg syndrome type 1	13	10	23	56.52	disease	syndrome	Waardenburg syndrome	-	-	-	-	-	-	-	-	DOID:0110948	DO_rare_slim\| NCIthesaurus	-	-	-	-	-	-	-	goterms	PPI
SCN5A_ENST00000333535	Q14524	Sodium channel protein type 5 subunit alpha	SCN5A	chr3	brugada syndrome 1	13	73	86	15.12	disease	disease of anatomical entity	cardiovascular system disease	heart disease	heart conduction disease	Brugada syndrome	-	-	-	-	-	DOID:0110218	-	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
SPAST	Q9UBP0	Spastin	SPAST	chr2	hereditary spastic paraplegia 4	13	64	77	16.88	disease	disease of anatomical entity	nervous system disease	central nervous system disease	paraplegia	hereditary spastic paraplegia	-	-	-	-	-	DOID:0110792	DO_rare_slim	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
TYR	P14679	Tyrosinase	TYR	chr11	oculocutaneous albinism type ia	13	88	101	12.87	disease	syndrome	oculocutaneous albinism	-	-	-	-	-	-	-	-	DOID:0070094	-	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
ASS1_ENST00000352480	P00966	Argininosuccinate synthase	ASS1	chr9	classic citrullinemia	12	74	86	13.95	disease	disease of metabolism	inherited metabolic disorder	amino acid metabolic disorder	urea cycle disorder	citrullinemia	-	-	-	-	-	DOID:0070340	-	ptm	-	Ubiquitination; Phosphorylation	-	-	-	-	goterms	PPI
CDKN2A_ENST00000304494	P42771	Cyclin-dependent kinase inhibitor 2A	CDKN2A	chr9	melanoma, cutaneous malignant 2	12	23	35	34.29	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	-	goterms	PPI
COL1A2	P08123	Collagen alpha-2(I) chain	COL1A2	chr7	osteogenesis imperfecta type 4	12	0	12	100	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	bone disease	bone development disease	osteochondrodysplasia	osteogenesis imperfecta	-	-	-	DOID:0110340	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
COL4A1	P02462	Collagen alpha-1(IV) chain	COL4A1	chr13	brain small vessel disease 1	12	2	14	85.71	disease	disease of anatomical entity	nervous system disease	central nervous system disease	brain disease	brain small vessel disease	-	-	-	-	-	DOID:0090125	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
GBA_ENST00000368373	P04062	Lysosomal acid glucosylceramidase	GBA	chr1	gaucher's disease type i	12	124	136	8.82	disease	disease of metabolism	inherited metabolic disorder	lysosomal storage disease	lipid storage disease	sphingolipidosis	Gaucher's disease	-	-	-	-	DOID:0110957	DO_rare_slim	ptm	-	Ubiquitination; Phosphorylation	-	-	-	-	goterms	PPI
KCNQ1	P51787	Potassium voltage-gated channel subfamily KQT member 1	KCNQ1	chr11	long qt syndrome 1	12	111	123	9.76	disease	disease of anatomical entity	cardiovascular system disease	heart disease	cardiomyopathy	intrinsic cardiomyopathy	long QT syndrome	-	-	-	-	DOID:0110644	DO_rare_slim	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
NIPBL	Q6KC79	Nipped-B-like protein	NIPBL	chr5	cornelia de lange syndrome 1	12	25	37	32.43	disease	syndrome	Cornelia de Lange syndrome	-	-	-	-	-	-	-	-	DOID:0080505	-	ptm	-	Ubiquitination; Phosphorylation	-	-	-	-	goterms	PPI
NPHS2	Q9NP85	Podocin	NPHS2	chr1	nephrotic syndrome type 2	12	38	50	24	disease	disease of anatomical entity	urinary system disease	kidney disease	proteinuria	nephrosis	nephrotic syndrome	familial nephrotic syndrome	-	-	-	DOID:0080379	-	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
PAH	P00439	Phenylalanine-4-hydroxylase	PAH	chr12	phenylketonuria	12	210	222	5.41	disease	disease of metabolism	inherited metabolic disorder	amino acid metabolic disorder	-	-	-	-	-	-	-	DOID:9281	DO_rare_slim\| NCIthesaurus	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
PTPN11_ENST00000351677	Q06124	Tyrosine-protein phosphatase non-receptor type 11	PTPN11	chr12	noonan syndrome 1	12	27	39	30.77	disease	syndrome	RASopathy	Noonan syndrome	-	-	-	-	-	-	-	DOID:0060578	-	ptm	-	Acetylation; Phosphorylation	-	-	-	-	goterms	PPI
SRY	Q05066	Sex-determining region Y protein	SRY	chrY	46,xy sex reversal 1	12	15	27	44.44	disease	disease of anatomical entity	endocrine system disease	gonadal disease	disorder of sexual development	gonadal dysgenesis	46,XY sex reversal	-	-	-	-	DOID:0111778	-	-	-	-	-	-	-	-	goterms	PPI
TCF4_ENST00000564999	P15884	Transcription factor 4	TCF4	chr18	pitt-hopkins syndrome	12	1	13	92.31	disease	syndrome	-	-	-	-	-	-	-	-	-	DOID:0060488	DO_FlyBase_slim\| DO_rare_slim\| NCIthesaurus	-	-	-	-	-	-	-	goterms	PPI
GCK_ENST00000403799	P35557	Hexokinase-4	GCK	chr7	maturity-onset diabetes of the young type 2	11	74	85	12.94	disease	disease of metabolism	inherited metabolic disorder	carbohydrate metabolic disorder	glucose metabolism disease	diabetes mellitus	maturity-onset diabetes of the young	-	-	-	-	DOID:0111100	-	ptm	-	Sumoylation; Phosphorylation	-	-	-	-	goterms	PPI
KCNH2	Q12809	Potassium voltage-gated channel subfamily H member 2	KCNH2	chr7	long qt syndrome 2	11	105	116	9.48	disease	disease of anatomical entity	cardiovascular system disease	heart disease	cardiomyopathy	intrinsic cardiomyopathy	long QT syndrome	-	-	-	-	DOID:0110645	DO_rare_slim	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
MAPT_ENST00000262410	P10636	Microtubule-associated protein tau	MAPT	chr17	frontotemporal dementia	11	1	12	91.67	disease	disease of mental health	cognitive disorder	dementia	-	-	-	-	-	-	-	DOID:9255	DO_FlyBase_slim\| DO_rare_slim	ptm	-	Acetylation; Phosphorylation	-	-	-	-	goterms	PPI
NPHS1	O60500	Nephrin	NPHS1	chr19	nephrotic syndrome type 1	11	51	62	17.74	disease	disease of anatomical entity	urinary system disease	kidney disease	proteinuria	nephrosis	nephrotic syndrome	familial nephrotic syndrome	-	-	-	DOID:0080390	DO_rare_slim	phasepro	-	-	-	-	26553976.0	-	goterms	PPI
PMM2	O15305	Phosphomannomutase 2	PMM2	chr16	congenital disorder of glycosylation ia	11	55	66	16.67	disease	disease of metabolism	inherited metabolic disorder	carbohydrate metabolic disorder	congenital disorder of glycosylation	congenital disorder of glycosylation type I	-	-	-	-	-	DOID:0080552	DO_rare_slim	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
SMC1A	Q14683	Structural maintenance of chromosomes protein 1A	SMC1A	chrX	cornelia de lange syndrome 2	11	9	20	55	disease	syndrome	Cornelia de Lange syndrome	-	-	-	-	-	-	-	-	DOID:0080506	-	-	-	-	-	-	-	-	goterms	PPI
SPTA1_ENST00000368147	P02549	Spectrin alpha chain, erythrocytic 1	SPTA1	chr1	hereditary elliptocytosis	11	10	21	52.38	disease	disease of anatomical entity	hematopoietic system disease	-	-	-	-	-	-	-	-	DOID:2373	DO_rare_slim\| NCIthesaurus	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
COL4A3	Q01955	Collagen alpha-3(IV) chain	COL4A3	chr2	autosomal recessive alport syndrome	10	0	10	100	disease	syndrome	Alport syndrome	-	-	-	-	-	-	-	-	DOID:0110033	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
KRT5	P13647	Keratin, type II cytoskeletal 5	KRT5	chr12	epidermolysis bullosa simplex localized type	10	15	25	40	disease	disease of anatomical entity	integumentary system disease	skin disease	dermatitis	bullous skin disease	vesiculobullous skin disease	epidermolysis bullosa	epidermolysis bullosa simplex	-	-	DOID:0080510	-	ptm	-	Methylation; Phosphorylation	-	-	-	-	goterms	PPI
MAFB	Q9Y5Q3	Transcription factor MafB	MAFB	chr20	multicentric carpotarsal osteolysis syndrome	10	0	10	100	disease	syndrome	-	-	-	-	-	-	-	-	-	DOID:0111534	DO_rare_slim	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
MYH7	P12883	Myosin-7	MYH7	chr14	dilated cardiomyopathy 1s	10	11	21	47.62	disease	disease of anatomical entity	cardiovascular system disease	heart disease	cardiomyopathy	intrinsic cardiomyopathy	dilated cardiomyopathy	-	-	-	-	DOID:0110454	-	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
NRL_ENST00000397002	P54845	Neural retina-specific leucine zipper protein	NRL	chr14	retinitis pigmentosa 27	10	0	10	100	disease	disease of anatomical entity	nervous system disease	sensory system disease	eye disease	eye degenerative disease	retinal degeneration	retinitis pigmentosa	-	-	-	DOID:0110397	-	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
THAP1	Q9NVV9	THAP domain-containing protein 1	THAP1	chr8	torsion dystonia 6	10	35	45	22.22	disease	disease of anatomical entity	nervous system disease	central nervous system disease	brain disease	movement disease	dystonia	generalized dystonia	-	-	-	DOID:0090039	DO_rare_slim	Elm; ptm	ELMI001531\|LIG	Phosphorylation	-	-	-	-	goterms	PPI
ADAMTS13	Q76LX8	A disintegrin and metalloproteinase with thrombospondin motifs 13	ADAMTS13	chr9	thrombotic thrombocytopenic purpura	9	34	43	20.93	disease	disease of anatomical entity	hematopoietic system disease	blood coagulation disease	thrombophilia	-	-	-	-	-	-	DOID:10772	DO_rare_slim\| NCIthesaurus	-	-	-	-	-	-	-	goterms	PPI
CDH23_ENST00000224721	Q9H251	Cadherin-23	CDH23	chr10	usher syndrome type 1d	9	16	25	36	disease	syndrome	Usher syndrome	Usher syndrome type 1	-	-	-	-	-	-	-	DOID:0110831	-	-	-	-	-	-	-	-	goterms	PPI
CHD7	Q9P2D1	Chromodomain-helicase-DNA-binding protein 7	CHD7	chr8	hypogonadotropic hypogonadism 5 with or without anosmia	9	8	17	52.94	disease	disease of anatomical entity	endocrine system disease	gonadal disease	hypogonadism	hypogonadotropic hypogonadism	-	-	-	-	-	DOID:0090084	-	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
COL2A1	P02458	Collagen alpha-1(II) chain	COL2A1	chr12	spondyloepiphyseal dysplasia congenita	9	1	10	90	disease	disease of anatomical entity	musculoskeletal system disease	connective tissue disease	bone disease	bone development disease	osteochondrodysplasia	spondyloepiphyseal dysplasia	-	-	-	DOID:14789	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
COL2A1	P02458	Collagen alpha-1(II) chain	COL2A1	chr12	stickler syndrome 1	9	1	10	90	disease	syndrome	Stickler syndrome	-	-	-	-	-	-	-	-	DOID:0080676	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
GALNS	P34059	N-acetylgalactosamine-6-sulfatase	GALNS	chr16	mucopolysaccharidosis iva	9	117	126	7.14	disease	disease of metabolism	inherited metabolic disorder	lysosomal storage disease	mucopolysaccharidosis	mucopolysaccharidosis IV	-	-	-	-	-	DOID:0111391	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
HSPB1	P04792	Heat shock protein beta-1	HSPB1	chr7	distal hereditary motor neuropathy type 2b	9	6	15	60	disease	disease of anatomical entity	nervous system disease	central nervous system disease	neurodegenerative disease	motor neuron disease	spinal muscular atrophy	autosomal dominant distal hereditary motor neuronopathy	distal hereditary motor neuronopathy type 2	-	-	DOID:0111207	-	ptm	-	Ubiquitination; Phosphorylation	-	-	-	-	goterms	PPI
IDS	P22304	Iduronate 2-sulfatase	IDS	chrX	mucopolysaccharidosis ii	9	117	126	7.14	disease	disease of metabolism	inherited metabolic disorder	lysosomal storage disease	mucopolysaccharidosis	-	-	-	-	-	-	DOID:12799	DO_rare_slim\| NCIthesaurus	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
IKBKG_ENST00000611071	Q9Y6K9	NF-kappa-B essential modulator	IKBKG	chrX	bloch-sulzberger syndrome	9	1	10	90	disease	disease of anatomical entity	integumentary system disease	skin disease	pigmentation disease	-	-	-	-	-	-	DOID:12305	NCIthesaurus	-	-	-	-	-	-	-	goterms	PPI
KIF21A	Q7Z4S6	Kinesin-like protein KIF21A	KIF21A	chr12	congenital fibrosis of the extraocular muscles 1	9	2	11	81.82	disease	disease of anatomical entity	nervous system disease	peripheral nervous system disease	neuropathy	cranial nerve disease	ocular motility disease	congenital fibrosis of the extraocular muscles	-	-	-	DOID:0081015	-	-	-	-	-	-	-	-	goterms	PPI
MAX	P61244	Protein max	MAX	chr14	pheochromocytoma	9	0	9	100	disease	disease of cellular proliferation	benign neoplasm	organ system benign neoplasm	endocrine organ benign neoplasm	-	-	-	-	-	-	DOID:0050771	DO_cancer_slim\| DO_rare_slim	mfib	-	-	-	-	-	MF2100009	goterms	PPI
MYH9	P35579	Myosin-9	MYH9	chr22	myh-9 related disease	9	7	16	56.25	disease	disease of anatomical entity	hematopoietic system disease	blood coagulation disease	blood platelet disease	-	-	-	-	-	-	DOID:0060651	DO_rare_slim	ptm	-	Ubiquitination; Phosphorylation	-	-	-	-	goterms	PPI
PITX2_ENST00000354925	Q99697	Pituitary homeobox 2	PITX2	chr4	axenfeld-rieger syndrome type 1	9	1	10	90	disease	disease of anatomical entity	nervous system disease	sensory system disease	eye disease	Axenfeld-Rieger syndrome	-	-	-	-	-	DOID:0110120	-	-	-	-	-	-	-	-	goterms	PPI
RBM20	Q5T481	RNA-binding protein 20	RBM20	chr10	dilated cardiomyopathy 1dd	9	1	10	90	disease	disease of anatomical entity	cardiovascular system disease	heart disease	cardiomyopathy	intrinsic cardiomyopathy	dilated cardiomyopathy	-	-	-	-	DOID:0110447	-	ptm	-	Phosphorylation	-	-	-	-	goterms	PPI
SATB1_ENST00000454909	Q01826	DNA-binding protein SATB1	SATB1	chr3	kohlschutter-tonz syndrome	9	3	12	75	disease	syndrome	-	-	-	-	-	-	-	-	-	DOID:0111668	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI
SGCA	Q16586	Alpha-sarcoglycan	SGCA	chr17	autosomal recessive limb-girdle muscular dystrophy type 2d	9	20	29	31.03	disease	disease of anatomical entity	musculoskeletal system disease	muscular disease	muscle tissue disease	myopathy	muscular dystrophy	limb-girdle muscular dystrophy	autosomal recessive limb-girdle muscular dystrophy	-	-	DOID:0110278	DO_rare_slim	-	-	-	-	-	-	-	goterms	PPI

Identifier	UniProt Accession	Name	Gene Uniprot	Chromosome	Disease	Disordered Mutations	Ordered Mutations	Total Mutations	Mutation Disordered Percent	DO level 1	DO level 2	DO level 3	DO level 4	DO level 5	DO level 6	DO level 7	DO level 8	DO level 9	DO level 10	DO level 11	DOID	DO Slim	Annotations	Elm	ptm	binding	dibs	phasepro	mfib	GO	PPI

Filter in search result