Only Phenotypes that can be linked to residues in CREDO are displayed.
Phenotype ID Description ID Variations Targets Residues Binding Sites Interfaces Grooves
3 17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED COMPLETE
4 17-@ALPHA-HYDROXYLASE/17,20-LYASE DEFICIENCY, COMBINED PARTIAL
6 17-@BETA-HYDROXYSTEROID DEHYDROGENASE X DEFICIENCY
7 2-@METHYLBUTYRYL-CoA DEHYDROGENASE DEFICIENCY
10 3-@HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
12 3-@HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY
14 3-@KETOTHIOLASE DEFICIENCY
23 46,XY SEX REVERSAL 3
49 ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF
62 ADENOCARCINOMA OF LUNG, SOMATIC
64 ADENOSINE DEAMINASE 2 ALLOZYME
68 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
80 ADRENOLEUKODYSTROPHY, NEONATAL
89 AGAMMAGLOBULINEMIA, X-LINKED
94 AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY
111 ALBUMIN
117 ALBUMIN CASTEL DI SANGRO
118 ALBUMIN DUBLIN
124 ALBUMIN HIROSHIMA 1
141 ALBUMIN ORTONOVO
154 ALBUMIN YANOMAMA 2
157 ALCOHOL DEPENDENCE, PROTECTION AGAINST
158 ALCOHOL SENSITIVITY, ACUTE
166 ALKAPTONURIA
184 ALPHA-THALASSEMIA
201 ALZHEIMER DISEASE, FAMILIAL, 1
220 AMYLOIDOSIS, CARDIAC AND CUTANEOUS
221 AMYLOIDOSIS, CEREBROARTERIAL, ICELANDIC TYPE
222 AMYLOIDOSIS, FAMILIAL VISCERAL
223 AMYLOIDOSIS, FAMILIAL, FINNISH TYPE
224 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
225 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF
226 AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED
228 AMYLOIDOSIS, SYSTEMIC NONNEUROPATHIC
229 AMYOTROPHIC LATERAL SCLEROSIS 1
230 AMYOTROPHIC LATERAL SCLEROSIS 1, AUTOSOMAL RECESSIVE
240 AMYOTROPHIC LATERAL SCLEROSIS 9
289 ANTICHYMOTRYPSIN ISEHARA 1
296 APERT SYNDROME
301 APNEA, POSTANESTHETIC, DUE TO BCHE, ATYPICAL-1
310 APOLIPOPROTEIN A-I (BALTIMORE)
312 APOLIPOPROTEIN A-I (MARBURG)
313 APOLIPOPROTEIN A-I (MILANO)
314 APOLIPOPROTEIN A-I (MUNSTER3B)
315 APOLIPOPROTEIN A-I (MUNSTER3C)
316 APOLIPOPROTEIN A-I (MUNSTER4)
317 APOLIPOPROTEIN A-I (NORWAY)
318 APOLIPOPROTEIN A-I DEFICIENCY
335 APRT DEFICIENCY
336 APRT DEFICIENCY DUE TO TYPE I ALLELE
337 APRT DEFICIENCY, COMPLETE, ICELANDIC TYPE
338 APRT DEFICIENCY, JAPANESE TYPE
344 ARGININEMIA
347 AROMATASE DEFICIENCY
348 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
367 ASPARTYLGLUCOSAMINURIA
371 ASTHMA AND ATOPY, SUSCEPTIBILITY TO
388 ATELOSTEOGENESIS, TYPE I
390 ATELOSTEOGENESIS, TYPE III
400 ATRANSFERRINEMIA
412 ATRIAL SEPTAL DEFECT 6
441 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA
444 AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IV
469 BARDET-BIEDL SYNDROME 3
506 BERNARD SOULIER SYNDROME, TYPE B
516 BETA-PLUS-THALASSEMIA
523 BETA-ZERO-THALASSEMIA
529 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
540 BISPHOSPHOGLYCERATE MUTASE DEFICIENCY
544 BLADDER CANCER, TRANSITIONAL CELL, SOMATIC
584 BOTHNIA RETINAL DYSTROPHY
590 BRACHYDACTYLY, TYPE C
603 BREAST ADENOCARCINOMA, SOMATIC
604 BREAST CANCER
609 BREAST CANCER, SOMATIC
611 BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
628 BUTYRYLCHOLINESTERASE DEFICIENCY
647 CANAVAN DISEASE
648 CANAVAN DISEASE, MILD
658 CARBONIC ANHYDRASE II VARIANT
659 CARBOXYLESTERASE 1 DEFICIENCY
667 CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY
668 CARDIOFACIOCUTANEOUS SYNDROME
697 CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 1
721 CARPAL TUNNEL SYNDROME, FAMILIAL
738 CATARACT, CRYSTALLINE ACULEIFORM
765 CD207 ANTIGEN
788 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, DUTCH VARIANT
789 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, FLEMISH VARIANT
790 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, IOWA VARIANT
791 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, ITALIAN VARIANT
792 CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT
794 CEREBRAL AUTOSOMAL RECESSIVE ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY
807 CEROID LIPOFUSCINOSIS, NEURONAL, 2
815 CFTR POLYMORPHISM
824 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B
832 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE C
859 CHERUBISM
906 CITRULLINEMIA, CLASSIC
936 COLON CANCER