Only Phenotypes that can be linked to residues in CREDO are displayed.
Phenotype ID Description ID Variations Targets Residues Binding Sites Interfaces Grooves
2 17,20-@LYASE DEFICIENCY, ISOLATED
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
17 3-@METHYLGLUTACONIC ACIDURIA, TYPE I
22 46,XY SEX REVERSAL 1
23 46,XY SEX REVERSAL 3
34 ACAMPOMELIC CAMPOMELIC DYSPLASIA
37 ACERULOPLASMINEMIA
38 ACETYLATION, SLOW
43 ACHONDROPLASIA
49 ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF
51 ACQUIRED IMMUNODEFICIENCY SYNDROME, SLOW PROGRESSION TO
58 ACYL-CoA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF
62 ADENOCARCINOMA OF LUNG, SOMATIC
64 ADENOSINE DEAMINASE 2 ALLOZYME
65 ADENOSINE DEAMINASE DEFICIENCY, PARTIAL
68 ADENYLATE KINASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
69 ADENYLOSUCCINASE DEFICIENCY
71 ADIPONECTIN, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1
76 ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE
77 ADRENOCORTICAL CARCINOMA, PEDIATRIC
78 ADRENOCORTICAL INSUFFICIENCY
80 ADRENOLEUKODYSTROPHY, NEONATAL
82 ADULT SYNDROME
86 AFIBRINOGENEMIA, CONGENITAL
87 AGAMMAGLOBULINEMIA 2
88 AGAMMAGLOBULINEMIA 6
89 AGAMMAGLOBULINEMIA, X-LINKED
94 AICA-RIBOSIDURIA DUE TO ATIC DEFICIENCY
97 AICARDI-GOUTIERES SYNDROME 2
98 AICARDI-GOUTIERES SYNDROME 3
99 AICARDI-GOUTIERES SYNDROME 4
100 AICARDI-GOUTIERES SYNDROME 5
111 ALBUMIN
112 ALBUMIN ASOLA
114 ALBUMIN BREMEN
115 ALBUMIN CASEBROOK
116 ALBUMIN CASERTA
117 ALBUMIN CASTEL DI SANGRO
118 ALBUMIN DUBLIN
119 ALBUMIN FUKUOKA 1
121 ALBUMIN GHENT
122 ALBUMIN HAWKES BAY
123 ALBUMIN HERBORN
124 ALBUMIN HIROSHIMA 1
125 ALBUMIN HIROSHIMA 2
128 ALBUMIN IOWA CITY 1
129 ALBUMIN KOMAGOME 2
130 ALBUMIN LAMBADI
131 ALBUMIN MALMO 10
132 ALBUMIN MALMO 5
133 ALBUMIN MALMO 95
134 ALBUMIN MERSIN
135 ALBUMIN MEXICO 2
136 ALBUMIN NAGASAKI 1
137 ALBUMIN NAGASAKI 2
138 ALBUMIN NAGASAKI 3
139 ALBUMIN NAGOYA
140 ALBUMIN NEW GUINEA
141 ALBUMIN ORTONOVO
142 ALBUMIN OSAKA 1
143 ALBUMIN OSAKA 2
144 ALBUMIN PARKLANDS
145 ALBUMIN PORTO ALEGRE 1
146 ALBUMIN ROMA
148 ALBUMIN SONDRIA
149 ALBUMIN TOCHIGI
150 ALBUMIN TORINO
151 ALBUMIN TRADATE 2
152 ALBUMIN VANVES
153 ALBUMIN VIBO VALENTIA
154 ALBUMIN YANOMAMA 2
155 ALCOHOL DEHYDROGENASE 1B, CLASS I, BETA POLYPEPTIDE
157 ALCOHOL DEPENDENCE, PROTECTION AGAINST
158 ALCOHOL SENSITIVITY, ACUTE
166 ALKAPTONURIA
176 ALPHA-2-MACROGLOBULIN POLYMORPHISM
183 ALPHA-PLUS-THALASSEMIA
184 ALPHA-THALASSEMIA
188 ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED
198 ALZHEIMER DISEASE 2
199 ALZHEIMER DISEASE 3
201 ALZHEIMER DISEASE, FAMILIAL, 1
202 ALZHEIMER DISEASE, FAMILIAL, 3
209 AMELOGENESIS IMPERFECTA, PIGMENTED HYPOMATURATION TYPE
214 AMINOACYLASE 1 DEFICIENCY
215 AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM
219 AMYLOID POLYNEUROPATHY-NEPHROPATHY, IOWA TYPE
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